Congenital abnormalities by Erum Khowaja

CONGENITAL
ABNORMALITIES
BY:
ERUM KHOWAJA
SANAM AKBAR

NURSE MIDWIFERY
STUDENT
AKUSONAM
GARDEN

1
Define congenital
abnormalities

Congenital 2 Describe causes of
congenital abnormalities
abnormalitie
Describe congenital
s 3
abnormalities related to GI,
Respiratory, cardiac, CNS,
muscoskeletal, skin,
genitourinary.

4. Describe their causes and
treatment

DEFINITION
 The word "congenital" means "at birth." "Anomaly"
comes from the Greek word "anomalos" meaning
"uneven" or "irregular.“
 (Something that is unusual or different at birth. )
 A congenital abnormality is any defect in form,
structure or function. (Myles)

1. Chromosomal
abnormalities

Numerical abnormalities Structural abnormalities

1. Deletion
Sex 2. Duplication
Autosomes
chromosomes 3. Inversion
4. Translocation

Turner
Down syndrome Congenital
syndrome
abnormalities
(if unbalanced)

2. Single gene defect
(Mendelian inheritance)

Autosomal dominant Autosomal recessive x_-linked

Congenital Duchenne muscular
spherocytosis Cystic fibrosis
dystrophy

3. Mitochondrial DNA disorders

4. Multifactorial diseases

DM
HTN
Spina bifida

5. Teratogens

These include..
-Gastroschisis
-Atresias
-Exomphalos

Gastroschisis

 In the womb, fetal intestines develop outside
of the abdomen for a brief time. In normal
cases, the intestines return to the abdominal
cavity,and the baby's abdomen closes before
birth.

GASTROSCHISIS

Gastroschisis is an abdominal-wall defect that
occurs on the side of the umbilical cord (umbilicus).
The baby is born with intestines protruding through this
defect, and no protective sac is present.
Gastroschisis is rarely associated with other birth
defects.
Gastroschisis is a life-threatening defect,
requiring immediate intervention.

Congenital abnormalities by Erum Khowaja

Before Operation

Artrificial Sac

Post Operation

The infant is cared for post-operatively in a
neonatal intensive-care unit. He is placed in an
isolette (incubator) to keep warm and avoid infection
Oxygen is provided, often through mechanical
ventilation. Intravenous fluids, antibiotics, and
pain medications are also given. A nasogastric tube
is inserted to keep the stomach emptied of gastric
secretions. Feedings through the nasogastric tube
begin as soon as bowel function resumes.

These feedings are approached very slowly, and
often infants are reluctant to eat. They may need
feeding therapy and lots of encouragement.

 It is a defect in which the bowel or other
viscera protrude through the umbilicus.
(Myles)

Exomphalos is a weakness of the baby‘s abdominal
wall where the umbilical cord joins it. This weakness
allows the abdominal contents, mainly the bowel and
the liver to protrude outside the abdominal cavity
where they are contained in a loose sac that
surrounds the umbilical cord.

. An infant with exomphalos (omphalocoele) has no
abdominal wall muscle around the base of the
umbilical cord.
. The normal abdominal wall is replaced by a thin
membrane through which the bowel may be seen.
 The covering membrane may burst at delivery. After
birth the cord should be clamped well away from the
exomphalos.
 The abnormality should be covered with sterile gauze
or plastic wrapping.
 Whether the exomphalos is big or small, all these
infants must be transferred urgently to a level 2 or 3
hospital for management.

 It may b defined as a congenital absence or
abnormal narrowing of a body opening.
(medical dictionary)
It can affect different sites in the GI tract.
 oesophageal
 duodenal
 small bowel
 colonic
 anorectal.

 Oesophageal atresia is an obstruction of the oesophagus due
to a section of the oesophagus which is missing. It is usually
associated with a connection (fistula) between the lower
oesophagus and the bronchi of the lungs.

 Polyhydramnios is almost always present during pregnancy as
the fetus cannot swallow. After birth these infants also cannot
swallow as the oesophagus ends in a blind pouch.

 The feed, which cannot be swallowed, is inhaled into the
lungs. Gastric acid passes from the stomach into the bronchi,
via a fistula, especially when the infants lie down. Both
inhaled feeds and the reflux of gastric acid result in
respiratory distress.

 Do not feed any infant that you suspect of having an
oesophageal atresia.

 The diagnosis is confirmed by the inability to pass a
nasogastric tube.

 Whenever polyhydramnios is diagnosed, a
nasogastric tube must be passed at birth to exclude
oesophageal atresia before the first feed is given.

Polyhydramnios always
suggests oesophageal Atresia

 Duodenal atresia is an obstruction of the
duodenum.
 Polyhydramnios may have been present and the
amniotic fluid may also be bile stained due to the
fetus vomiting.
 Soon after delivery the infant starts vomiting. The
vomit is often bile stained
 The diagnosis is easily confirmed by an
abdominal X-ray that shows 2 bubbles of air only
in the bowel. These infants must be kept nil per
mouth, the stomach should be emptied via a
nasogastric tube.

 Imperforate anus is a defect that is present
from birth (congenital) in which the opening
to the anus is missing or blocked.

 The rectum may end in a blind pouch that does not
connect with the colon.

 The rectum may have openings to the urethra,
bladder, base of the penis or scrotum in boys, or
vagina in girls.

 There may be narrowing (stenosis) of the anus or no
anus.

 The problem is caused by abnormal development of
the fetus. Many forms of imperforate anus occur with
other birth defects.

 Anal opening very near the vagina opening in
girls.

 Baby does not pass first stool within 24 - 48
hours after birth.

 Missing or moved opening to the anus.

 Stool passes out of the vagina, base of penis,
scrotum, or urethra.

 Swollen belly area.

 A doctor can diagnose this condition during a physical
exam. Imaging tests may be recommended.

 TREATMENT
 The infant should be checked for other problems,
especially those affecting the genitals, urinary tract, and
spine.

 Surgery to correct the defect is needed. If the rectum
connects with other organs, these organs will also need to
be repaired.

 A temporary colostomy (connecting the end of the large
intestine to the abdomen wall so that stool can be
collected in a bag) is often needed.

1.MALROTATION/ 2.MECONIUM ILEUS
VOLVULUS (CYSTIC FIBROSIS)

3.HIRSCHSPRUNG‘S
DISEASE

 A volvulus is a bowel obstruction with a loop of bowel that
has abnormally twisted on itself.
SINGS AND SYMPTOMS
….Bowel obstruction, manifested as abdominal distension and
vomiting.

….Ischemia (loss of blood flow) to the affected portion of
intestine.

….severe pain and progressive injury to the intestinal wall, with
accumulation of gas and fluid in the portion of the bowel
obstructed.
TREATMENT
 Sigmoidoscopy

 Laparotomy

 In meconium ileus the meconium is
particularly viscous and causes intestinal
obstruction.
 Symptoms include emesis that may be
bilious, abdominal distention, and failure to
pass meconium.
 Diagnosis is based on clinical presentation
and x-rays.
 Treatment is enemas with dilute contrast
under fluoroscopy and surgery if enemas fail.

 Hirschsprung's disease is a blockage of the
large intestine due to improper muscle
movement in the bowel. It is a congenital
condition.
 CAUSES:
 Muscle contractions in the gut help digested materials move
through the intestine. This is called peristalsis. Nerves in
between the muscle layers trigger the contractions.

 In Hirschsprung's disease, the nerves are missing from a part
of the bowel. Areas without such nerves cannot push material
through. This causes a blockage. Intestinal contents build up
behind the blockage, causing the bowel and abdomen to
become swollen.

 Hirschsprung's disease is sometimes associated with other
inherited or congenital conditions, such as Down syndrome.

Symptoms that may be present in newborns and infants
include:
 Difficulty with bowel movements
 Failure to pass meconium shortly after birth
 Failure to pass a first stool within 24 - 48 hours after
birth
 Infrequent but explosive stools
 Jaundice
 Poor feeding
 Poor weight gain
 Vomiting
 Watery diarrhea (in the newborn)
 Symptoms in older children:
 Constipation that gradually gets worse
 Fecal impaction
 Malnutrition
 Slow growth
 Swollen belly

 During a physical examination, the doctor may be able to
feel loops of bowel in the swollen belly. A rectal
examination may reveal a loss of muscle tone in the rectal
muscles.

 Tests used to help diagnose Hirschsprung's
disease may include:
 Abdominal x-ray
 Anal manometry (a balloon is inflated in the rectum to
measure pressure in the area)
 Barium enema
 Rectal biopsy

 Colostomy is usually performed in the sigmoid
colon at a site identified intraoperatively (by
frozen section pathology) as containing ganglion
cells.

 A variety of subsequent corrective operations are
carried out at approximately 1 year of age,
although the recent trend is to perform this as a
one stage procedure in the neonatal period.

 All procedures have in common the aim of
bringing innervated bowel to, or close to the anal
margin with minimal disruption of neural
anatomy.

CLEFT LIP
The congenital deformity of a cleft in
the upper lip, on one or both sides of
the midline.

CLEFT PALATE
A fissure in the midline of the
palate due to failure of the two
sides to fuse in embryonic
development. It may be
accompanied by a cleft lip and
disturbance of tooth formation .

Unilateral Unilateral complete Bilateral complete
incomplete

Incomplete Unilateral
cleft palate complete lip and Bilateral
palate complete

 Diagnosed until the soft tissues of the fetal face
can be clearly visualized sonographically (13 to
14 weeks).

 The majority of infants with cleft lip also have
palatal involvement:

MANAGEMENT

Cleft lip repair. The edges of the cleft between the lip and nose are cut (A and B). The
bottom of the nostril is formed with suture (C). The upper part of the lip tissue is
closed (D), and the stitches are extended down to close the opening entirely (E).

 Diaphragmatic Hernia

 Choanal Atresia

 Laryngeal Stridor

A diaphragmatic hernia is
a birth defect in which
there is an abnormal
opening in the
diaphragm, the muscle
that helps you breathe.
The opening allows part
of the organs from the
belly
(stomach, spleen, liver, a
nd intestines) to go up
into the chest cavity near
the lungs.

 Diaphragmatic hernia is caused by the
improper joining of structures during fetal
development. As a result, the abdominal
organs such as the stomach, small intestine,
spleen, part of the liver, and the kidney
appear in the chest cavity. The lung tissue on
the affected side is thus not allowed to
completely develop.
 Most affect the left side.

 Severe breathing difficulty
 Bluish colored skin due to lack of oxygen
 Rapid breathing (tachypnea)
 Fast heart rate (tachycardia)
DIAGNOSIS
 The pregnant mother may have excessive amounts
of amniotic fluid. Fetal ultrasound may show
abdominal contents in the chest cavity.
Examination of the infant shows:
 Irregular chest movements
 Absent breath sounds on affected side
 Bowel sounds heard in the chest
 Abdomen feels less full on examination by touch
(palpation)
 A chest x-ray may show abdominal organs in chest
cavity.

1
The chest cavity includes
the heart and lungs. The
abdominal cavity
includes the liver, the
stomach, and the small
and large intestines. The
two regions are
separated by the
diaphragm, the large
dome-shaped muscle.

2
When the diaphragm develops with a hole in
it, the abdominal organs can pass into the
chest cavity. The lung tissue on the affected
side is compressed, fails to grow normally,
and is unable to expand after birth. As the
child begins to breathe, cry, and swallow, air
enters the intestines that are protruding into
the chest. The increasing size of the intestines
puts pressure on the other side of the chest,
lung, and heart and can quickly cause a life-
threatening situation.
The indications for a diaphragmatic hernia
repair include:
1.chest X-rays showing diaphragmatic hernia
2.severe breathing difficulty (respiratory
3.distress) shortly after birth
4.prenatal ultrasound often identifies a
diaphragmatic hernia

3 4

An incision is made in the upper
abdomen, under the ribs. The The hole in the diaphragm is repaired
abdominal organs are gently pulled and the incision is stitched closed. A
down through the opening in the tube is placed in the chest to allow air,
diaphragm and positioned into the blood, and fluid to drain so the lung
abdominal cavity. can re-expand

5

The lung tissue may be underdeveloped on
the affected side, and the outcome depends
upon the development of the lung tissue.
Infants who survive may have some long-
term lung disease.

 Choanal atresia describes a unilateral or bilateral narrowing of the
nasal passage(s) with a web of tissue or bone occluding the
nasopharynx. (Myles)

 SYMPTOMS
 Newborns generally prefer to breathe through their nose.
Typically, infants only mouth breathe when they cry. Babies
with choanal atresia have difficulty breathing unless they are
crying
 Chest retracts
 crying Difficulty
 Cyanosis (bluish discoloration)
 Inability to nurse and breathe at same time
 Inability to pass a catheter through each side of the nose into
the throat
 Persistent one-sided nasal blockage or discharge

 The immediate concern is to resuscitate the baby
if necessary. An airway may need to be placed so
that the infant can breathe. In some cases,
intubation or tracheostomy may be needed.
 An infant can learn to mouth breathe, which can
delay the need for immediate surgery.
 Surgery to remove the obstruction cures the
problem. Surgery may be delayed if the infant
can tolerate mouth breathing. The surgery may
be done through the nose (transnasal) or through
the mouth (transpalatal).

 Laryngomalacia (also called congenital laryngeal
stridor) results from a congenital (present at birth)
anomaly of the larynx (voice box). A weakness in
the structures in the larynx, can cause stridor.
 Stridor is a high-pitched sound that is heard best
when the child breaths in (inspiration).
 CAUSE
 Laryngomalacia is a defect that is present at
birth. During fetal development, the structures
in the larynx may not fully develop. As a result,
there is a weakness in these structures at birth,
causing them to collapse during breathing

 In most cases, laryngomalacia is a harmless condition that
resolves on its own, without medical intervention. The
condition usually improves by the time the infant is 18
months old, but Each child's case is unique.

 The most helpful way to determine if your child's
laryngomalacia is causing significant problems is:

 your baby requires frequent breaks while feeding
 your baby is having difficulty gaining weight
 Your child should be seen by an ENT if these are present.
 your child has significant retractions (chest sucking in)
 breathing problems

 A congenital heart defect is a problem with the
structure of the heart. It is present at birth.
Congenital heart defects are the most common type
of major birth defect.

 A baby's heart begins to develop shortly after
conception. During development, structural defects
can occur. These defects can involve the walls of the
heart, the valves of the heart and the arteries and
veins near the heart. Congenital heart defects can
disrupt the normal flow of blood through the heart.
The blood flow can
 Slow down
 Go in the wrong direction or to the wrong place
 Be blocked completely

 Chromosomal and genetic factors
 Teratogens

 PRENATAL DETECTION:
 Detailed ultrasound
 POSTNATAL RECOGNITION:
 Clinically babies with cardiac anomalies can
be divided into two groups
1.Central Cyanosis
2.Acyanotic Cardiac Defects

 Defects included in this group are:
1. Transportion of the great arteries
2. Pulmonary atresia
3. Tetra logy of fallot
4. Tricuspid atresia
5. Total anomalous pulmonary venous drainage
6. Univentricular/complex heart

 "transposed" literally means "swapped―
(exchanged or substitute)
 A congenital abnormality of the heart in which
the aorta arises from the right ventricle and the
pulmonary artery from the left ventricle.
 (Myles)

 In TGA the oxygenated blood is circulated back
into the systemic circuit.
 Life is impossible unless there is an additional
abnormality, such as septal defect, that permits
the mixing of blood.

Factors in the mother that may increase the
risk of this condition include:
 Age over 40
 Alcoholism
 Diabetes
 Poor nutrition during pregnancy (prenatal
nutrition)
 Rubella or other viral illness during pregnancy

 Blueness of the skin
 Clubbing of the fingers or toes
 Poor feeding
 Shortness of breath

 The health care provider may detect a heart
murmur while listening to the chest with a
stethoscope. The baby's mouth and skin will be a
blue color.
 Tests often include the following:
 Cardiac catheterization
 Chest x-ray
 ECG
 Echocardiogram (if done before birth, it is called
a fetal echocardiogram)
 Pulse oximetry (to check blood oxygen level)

 The baby will immediately receive a medicine called
prostaglandin through an IV (intravenous line). This
medicine helps keep a blood vessel called the ductus
arteriosus open, allowing some mixing of the two
blood circulations.
 A procedure using a long, thin flexible tube (balloon
atrial septostomy) may be needed to create a large
hole in the atrial septum to allow blood to mix.
 A surgery called an arterial switch procedure is used
to permanently correct the problem within the baby's
first week of life. This surgery switches the great
arteries back to the normal position and keeps the
coronary arteries attached to the aorta.

 Women who plan to become pregnant should
be immunized against rubella if they are not
already immune. Eating well, avoiding
alcohol, and controlling diabetes both before
and during pregnancy may be helpful.

 Pulmonary atresia is a form of heart disease that
occurs from birth in which the pulmonary valve
does not form properly. (The pulmonary valve is
an opening on the right side of the heart that
regulates blood flow from the right ventricle
(right side pumping chamber) to the lungs.)
 SYMPTOMS
 Symptoms usually occur in the first few hours of
life, although it may take up to a few days.
 Bluish colored skin (cyanosis)
 Fast breathing
 Fatigue
 Poor eating habits (babies may get tired while
nursing or sweat during feedings)
 Shortness of breath

 prostaglandin E1 is usually used to help the
blood move (circulate) into the lungs. This
medicine keeps a blood vessel open between
the pulmonary artery and aorta.
 Palliative blalock shunt

 It usually occurs with a ventricular septal
defect or an atrial septal defect, or both,
allowing mixing of the circulation.
 Potentially more distressing for parents are
the defects that do not initially present with
marked cyanosis. These babies may for a
long time be considered to be healthy.

Tetralogy of Fallot (TOF) is a
congenital heart defect
which is classically
understood to involve four
anatomical abnormalities
(although only three of
them are always present).
In this condition there is a
pulmonary outflow tract
obstruction, a ventricular
septal defect, right
ventricular hypertrophy and
an overriding aorta.

1. Persistant 2.Ventricular
ductus or atrial
arteriosus septal
(arterial defects
duct)

3.
Coarctation
of the aorta

5.
4.Aotric Hypoplastic
stenosis left heart
syndrome

 Patent ductus arteriosus (PDA) is a congenital
disorder in the heart wherein a neonate's
ductus arteriosus fails to close after birth.
Early symptoms are uncommon, but in the
first year of life include increased work of
breathing and poor weight gain. With age, the
PDA may lead to congestive heart failure if
left uncorrected.

 A ventricular septal defect (VSD) is a defect in the
ventricular septum, the wall dividing the left and
right ventricles of the heart.
 Ventricular septal defect is usually symptomless
at birth. It usually manifests a few weeks after
birth.
 Most cases do not need treatment and heal at the
first years of life. Treatment is either conservative
or surgical. Smaller congenital VSDs often close
on their own, as the heart grows, and in such
cases may be treated conservatively.

 Coarctation of the aorta, or aortic coarctation, is a
congenital condition whereby the aorta narrows in the area
where the ductus arteriosus inserts.
 In mild cases, children may show no signs or symptoms at
first and their condition may not be diagnosed until later
in life.
 Some children born with coarctation of the aorta have
other heart defects, too, such as aortic stenosis,
ventricular septal defect, patent ductus arteriosus or mitral
valve abnormalities.
 Coarctation is about twice as common in boys as it is in
girls. It‘s common in girls who have Turner syndrome.
 Therapy/Treatment is conservative if asymptomatic, but
may require surgical resection of the narrow segment if
there is arterial hypertension.

 Aortic valve stenosis (AS) is a disease of the
heart valves in which the opening of the
aortic valve is narrowed.
 Treatment is generally not necessary in
people without symptoms. In some cases,
echocardiography is performed every 1–2
years to monitor the progression.

Hypo plastic left heart
syndrome (also known
as HLHS), is a rare
congenital heart
defect in which the
left ventricle of the
heart is severely
underdeveloped. Infant with cyanosis
due to hypo plastic
left heart syndrome

Ingestion of folic acid supplements prior to
conception and during the early stages of
pregnancy has helped prevent such abnormalities.
If patient do not take folic acid in early stages
they end up with ―. Termination Of Pregnancy.‖
The abnormalities include:
• Anencephaly

• Spina bifida

• Hydrocephalus

• Microcephaly

 Anencephaly:-
The absence of the forebrain and vault of the skull. It is the
condition that is incompatible with sustained life but
occassionally such a baby is born alive.

 Management:-
The Midwife should wrap the baby carefully before showing the
baby to the mother.
It is recognized that seeing and holding the baby will facilitate
the grieving process.

Spina bifida

 Spina Bifida is failure of
the vertebral column.
There is no skin covering
the defect, which allows
protrusion of the
meninges.

 Long Term Effects

The long term effects are;
loss of sensation, paralysis,
mental retardation,
permanent loss of bowel
and bladder control,
seizures and weakness.

 Curing and Care:-
 Often times surgery is performed within twenty-four to
forty-eight hours of birth to close any openings in the child‘s
lower back and reconstruct the spine and other tissues in the
area.
 Problems with feet and legs may also be deal with surgically.
 There is fluid in the child‘s brain it can be drained.
 Bladder and bowel function can be regulated, by
catheterization.
 Mental health and physical therapy experts can also help with
learning disabilities, physical therapy, and emotional
adjustments.

 Hydrocephalus
This condition arises from a blockage in the circulation and
absorption of cerebrospinal fluid, which is produced from the
choroid plexuses within the lateral ventricles of the brain. The
large lateral ventricles increase in size and eventually,
compress the surrounding brain tissues.

 Sign And Symptoms
 Large tense anterior fontanelle
 Splayed skull suture

 Inappropriate increase in occipito frontol

circumference
 Sun setting appearance to the eye

 Irritability or abnormal movements.

 Microcephaly
Abnormal smallness of the head in
relation to the size of the rest of the
body. A congenital condition in which
the brain is not fully developed.

OR
The occipitofrontal circumference is
more than two standard deviations
below normal for gestational age, the
disproportionally small head.
 Causes
 Intrauterine infection
e.g.
Rubella.
 Alcohol syndrome.
 Some trisomic disorders,
That is chromosomal defect
e.g.
Down syndrome.

 Sign and symptoms
Depending on the severity of the accompanying syndrome,
children with microcephaly may have:
 mental retardation

 delayed motor functions and speech

 facial distortions

 Dwarfism or short stature

 Hyperactivity

 Seizures

 difficulties with coordination and balance

 other brain or neurological abnormalities.

 Polydactyly
More than the normal number of fingers or toes. From the
Greek "polys" (many) + "dactylos" (finger) = many fingers or,
medically, too many fingers. Polydactyly is the opposite of
oligodactyly (too few fingers or toes).
(medicinenet.com)
 Syndactyly
A condition in which fingers or toes are partially joined
together. Syndactyly can involve the bones or just the
skin. With partial syndactyly, the connection extends
from the base only partway up the involved digits.
(medicinenet.com)

 MANAGEMENT

 Polydactyly
 Can be corrected surgically to improve appearance and functioning
 Usually done at 1 year of age so skeletal development is complete and accurate
anatomic assessment can be done
 May require reconstruction of any associated abnormalities in remaining digit
 Cast and soft dressing may be used until healed

 Syndactyly
 Treatment aimed at maintaining and improving function with cosmetic
benefits
 Involves surgery and may require skin graft from groin area.
 Surgery usually done after one year and may be delayed as late as 18-24
months.
 Whether or not any surgical division needs to be carried out depends on the
degree of fusion.

 Limb reduction anomaly
 Limb reduction anomalies is a condition in which a baby is
born with a limb deficit.
OR
A birth defect where all or part of a limb is absent.

 Sign and symptoms
 Underdeveloped limb bones
 Partial absence of limb
 Complete absence of limb
 Short limbs
 Short digits
 Absent digits
 Partially absent digits
 Malformed limbs
 Bowed limbs.

 Talipes

―Deformity is an ankle in a state of insufficient
dorsiflexion to perform normal gait.‖ (journals.lww.com)

OR

―Talipes equinovarus is the descriptive term for a deformity
of the foot where the ankle is bent downwards (planter
flexed) and the front part of the turned inwards (inverted).‖

―Talipes calcaneovalgus describes the opposite
position where the foot id dorsiflexed and
everted.‖

 Causes

 The causes of talipes is the abnormal position
of the feet and limited space in the womb
during fetal development, which can result in
malformed tendons, muscles and bones.
 the lack of amniotic fluid in the sac surrounding
the fetus, or oligohydramnios, can increase
pressure on the feet, leading to talipes as well.
 Treatment

Treatment for talipes should commence
immediately after birth. The goal is to restore
the feet to their normal position to enable
proper function as well as eliminate pain and
deformity. The treatments available are:
 Serial plaster casting and splinting
 Surgery.

 Developmental hip dysplasia:-
Hip dysplasia is the medical name used to describe a problem
with formation of the hip joint in children. The location of the
problem can be either the ball of the hip joint (femoral head),
the socket of the hip joint (the acetabulum), or both.
 Causes
 Breech presentation
 Primigravida
 Oligohydramnios
 It is more in girls than boys.
 Symptoms

Some babies born with a dislocated hip will show no outward
signs:

Legs of different lengths

Uneven skin folds on the thigh

Less mobility or flexibility on one side

Limping, toe walking, or a waddling, duck-like gait .

 Treatment
 Non surgical treatment

Treatment methods depend on the child's age.

Newborns

Newborns are placed in a Pavlik harness for 1 to 2 months to
treat DDH.

Newborns are placed in a Pavlik harness for 1 to 2 months to
treat DDH. The baby is placed in a soft positioning device, a
Pavlik harness, for 1 to 2 months to keep the thighbone in the
socket. This will help tighten the ligaments around the hip joint
and promote normal hip socket formation.

1 to 6 months

The baby's thighbone is repositioned in the socket using a
harness or similar device. The method is usually successful. But
if it is not, the doctor may have to anesthetize the baby and
move the thighbone into proper position, and then put the baby
into a body cast (spica).

Surgical treatment
Can be done under anesthesia. Open surgery is sometimes
necessary. Afterwards, the child is placed into a body cast
(spica) to maintain the hip position.

 Achondroplasia
―An inherited skeletal disorder beginning before
birth; cartilage is converted to bone resulting in
dwarfism.‖
 Symptoms
 a form of dwarfism
 short arms, short legs, and an enlarged head.
 Obesity is one of the most common symptoms of
achondroplasia.
 Causes
 The causes of dwarfism are quite variable, although
most are genetic.
 Dwarfism is not necessarily inherited, often arising
from spontaneous mutations.
 Metabolic disorders can also lead to dwarfism. If
people cannot absorb nutrients, this leads to
dwarfism as a result of malnutrition.

 Management

 Achondroplasia treatment does not include the use of human
growth hormone to increase height. This kind of hormone
therapy is considered viable only in cases of proportionate
dwarfism, in which the limbs and head are appropriately
proportioned to the size of the torso. The use of growth
hormone has not been shown to significantly increase adult
height when used in children with achondroplasia.

 Individuals with achondroplasia might require therapeutic
support for issues related to social adjustment.

 Some individuals elect to undergo this surgery to achieve
greater height for cosmetic and social purposes, but this
procedure is not considered medically necessary.

 Osteogenesis Imperfecta
Osteogenesis imperfecta, also called Brittle Bone
Disease, is a genetic protein deficiency that results
in fragile bones. The protein affected is usually
Type-I collagen. The disorder is typically a
dominant genetic trait that is passed through the
parents, but it may also be a de novo mutation,
with no family history. There are also two rare and
recently discovered forms of osteogenesis
imperfecta that are recessive genetic traits.
 Type II OI is the most severe form, in which
collagen is of insufficient quality and quantity.
Deformities and respiratory problems are severe,
and most cases die within the first year of life.
 In types III, IV, V, and VI OI, collagen is produced in
normal quantities, but its quality is poor. Sufferers
of Types III, IV, V, and VI OI are characteristically
short in stature, with a curved spine and a barrel-
shaped rib cage. Type III is distinguished by being
progressive; deformities and other symptoms may
be slight at birth but develop over time.

 Management and
treatment
Osteogenesis imperfecta is an incurable
condition. Treatments to manage the
disease include surgery, physical
therapy, and physical aids. Bone
infections are managed with antibiotics
and antiseptics when they occur.
Medication, either oral or intravenous, is
also used to treat osteogenesis
imperfecta.

 Vascular naevi:
These defects in the development of
the skin can be divided into two
main types:

 Capillary malformations:
These are due to defects in the dermal
capillaries. The most commonly
observed are ‗stork marks‘. These
are usually found on the neck of the
skin. They are generally small and
will fade. No treatment is necessary.

 Port wine stain:
A port wine stain is usually a large flat patch of purple or dark
red skin with well-defined borders. At birth the surface of the
port-wine stain is flat, but in time it becomes bumpy and
often more unsightly. The face is most commonly affected
although they can occur anywhere on the body.

Laser treatment and the use skilful cosmetics will help to
prevent this problem.

 Capillary haemangiomata (strawberry
marks):-
A capillary hemangioma, also called a strawberry
mark, is a red birthmark that is either present at the
time of birth or develops within the first few weeks of
life. Most of these marks begin to fade by the time
the child is between 12 and 15 months old, and
some of the marks disappear completely. These
birthmarks are more common in girls and babies who
are born prematurely. Most capillary hemangioma do
not cause problems, though they can create vision
problems if present on or near the eye or breathing
problems if they are near the nostrils or mouth.
 Treatment:-
No treatment is normally required unless the haem-
angioma is situated in an awkward area where it is
likely to be subject to the abresion,such as on the lip
or around the eye where it may interfere with vision.
Treatment with steroids or pulsed laser therapy is
possible.

 Pigmented (melanocytic) naevi:-
These are brown, sometimes hairy , marks on the skin that vary
in size and may be flat or raised. A percentage of this type of
birth mark may become malignant.
 Treatment:-
Surgical excision may be recommended to pre empts this. This
birth mark will be carried out in the immediate neonatal
period except in the case of large pigment naevi. Laser
removal is a more common procedure but is not always
successful.

Genitourinary is a word that refers to the urinary and genital
organs. Most neonatal genitourinary problems are due to
congenital anomalies, it is may be finding a single umbilical
artery in the umbilical cord. The first clues to urinary
dysfunction are the quantity and quality of the urinary
stream, and this should be scrutinized in every newborn.
Common signs of dysfunction include anuria, hematuria, and
masses. Anuria may be caused by obstruction, a vascular
disorder, or renal agenesis or dysplasia. In the male,
obstruction is commonly caused by posterior urethral valves.
 Posterior uretheral valves:-
This is an abnormality affecting boys the presence of valves in
the posterior urethra prevents the normal outflow of urine. As
a result the bladder distention causing back pressure on the
ureters and to the kidneys.

 Sign and symptoms:-
 Inability to void is a common presentation.
 an enlarged bladder that may be detectable through the
abdomen as a large mass
 painful urination
 weak urine stream
 bedwetting or wetting pants after the child has been toilet-
trained
 poor weight gain

 Causes:-
 PUV are the most common cause of severe types of
urinary tract obstruction in children. It is thought to
develop in the early stages of fetal development. The
abnormality affects only male infants. This disorder is
usually sporadic (occurs by chance). However, some
cases have been seen in twins and siblings,
suggesting a genetic component.

 Treatment:-
 Initially, treatment may focus on relieving your child's symptoms.
 If child has a urinary tract infection, is dehydrated, and/or has electrolyte
irregularities, these conditions will be treated first.
 child may have a catheter placed in his bladder (a small hollow tube that is
inserted into the penis through the urethra and is threaded up into the
bladder).
 child may also receive antibiotic therapy and intravenous (IV) fluids.
 An urologist may perform a procedure called an endoscopic ablation. During
this procedure, the urologist will insert an endoscope, a small, flexible tube
with a light and a camera lens at the end. With this tube he/she will examine
the obstruction and remove the valve leaflets through a small incision.
 In certain situations, a different procedure called a vesicostomy may be
required. A vesicostomy is a small opening made in the bladder through the
abdomen. Usually this opening is repaired at a later time when the valves
can be cut more safely.

 Potter‘s syndrome:-

―Potter's Syndrome is one of several serious or fatal kidney abnormalities. In
Potter's (or Potter) syndrome the baby's kidneys do not develop in the first
few weeks of life in the womb. The baby's kidneys are essential for the
production of amniotic fluid in the womb. If there are no kidneys, there is
little or no amniotic fluid (this is known as oligohydramnios) to expand the
womb around the baby and to allow the baby to grow and move. The womb
remains small and in its confined space the baby's lungs cannot develop
properly. Many babies with Potter's syndrome are stillborn. In those who
are born alive, the immediate cause of death is failure to breathe (respiratory
failure) due to underdeveloped (hypoplastic) lungs, usually one or two days
after delivery. Even if this problem is treated the baby cannot survive
without kidneys. (Potter's syndrome is also known as Renal Agenesis, which
simply means that the kidneys did not developed.‖

 Treatment:
 Nutrition: Adequate nutrition is required. Nasogastric feeding may be
indicated in infants.
 Electrolyte abnormalities such as hypocalcemia and
hyperphosphatemia can be treated with medications, including
calcium carbonate and vitamin D.
 Anemia is treated with oral or parenteral iron and erythropoietin
stimulating agents.
 Growth: The use of growth hormone is indicated in children with a
low birth weight who do not grow at a healthy rate.

 POLYCYSTIC KIDNEYS:-
 Polycystic kidney disease (PKD) is a genetic disorder characterized by the
growth of numerous cysts in the kidneys.

Blood in the urine

Urinary tract infection

Kidney stones

Drowsiness

Nail abnormalities
 Increased abdominal guts
 Kidneys will be palpable.
 Causes:-
 PKD is caused by an inherited gene.
 Children have a 50% chance of developing PKD if one parent carries the
gene.
 If a person has the PKD gene, he or she will have some form of the
disease in his or her lifetime
 There is also a rare form of PKD, called autosomal recessive polycystic
kidney disease, that affects newborns, infants, and children. This form of
PKD can cause death in the first month of life.


Treatment:-
Most treatments for PKD treat the disease symptoms or prevent
complications. Some of these treatment options may include:

Pain medications must be used cautiously, since some of them can
cause further damage to the kidneys.

Antibiotics—In the event of a urinary tract infection, aggressive
treatment with antibiotics is required to avoid further damage to the
kidneys.

Surgery—Cysts may be drained through surgery to relieve pain,
blockage, infection, or bleeding. Cyst drainage may also temporarily
lower blood pressure. Sometimes, one or both kidneys may be
removed, called a nephrectomy , if pain is severe.

Diet—A low-protein diet may reduce stress on the kidney. Avoiding
salt can help maintain normal blood pressure and drinking lots of
water can help reduce the risk of kidney stones .
 Dialysis and transplantation—More than half of PKD patients develop
kidney failure and require dialysis . Dialysis is used to remove wastes
from the blood, since the kidneys cannot. At this stage, dialysis will
be a lifelong requirement unless a kidney transplant from a donor
can be arranged and performed successfully.

 Hypospadias:-
 Hypospadias is a birth defect of the penis that commonly has four
characteristics: The urethral opening is located on the underside of
the penis, instead of the tip, and may exit the penis anywhere along
its shaft as high as the scrotum.
 The urethral opening is unusually narrow.
 The entire foreskin may be bunched on the topside of the penis.
 The penis itself may be curved to one side.
 Causes:-
The causes of hypospadias are unknown. There seems to be a genetic
association, since a baby boy with a family history of hypospadias is
slightly more likely to be born with the condition.
 Treatment:-
 Hypospadias is treated with surgery, usually when the child is
between six and 18 months old.
 The aims of surgery include repositioning the urethral opening at the
tip of the penis, removing the abnormal foreskin (which gives a
circumcised appearance), and correcting the bend in the penis (if it is
present) to allow sexual function.
 It is important not to have your son circumcised before the
hypospadias repair, in case the foreskin is needed.

 Cryptorchidism:-
―The condition in which the testes failed to descend into the scrotum
and are retained within the abdomen or inguinal canal.‖
 Causes:-
About five per cent of all boys are born with this condition. Premature
and low birth weight babies are at increased risk.

 The symptoms of undescended testicles include:The scrotum is
empty on the affected side.
 Sometimes, the scrotum is empty on both sides.
 The condition is painless.
 Urination is not affected.
 Treatment:-
 Operation of orchidopexy is necessary to bring testes into the
scrotum before puberty.

 INTERSEX:-
―Intersex‖ is a general term used for a variety of conditions in which a
person is born with a reproductive or sexual anatomy that doesn‘t
seem to fit the typical definitions of female or male. For example, a
person might be born appearing to be female on the outside, but
having mostly male-typical anatomy on the inside.
 Causes:-
 There are many causes of intersex conditions in infants. They can be
roughly divided into prenatal (before birth) and postnatal
(immediately following birth).
 the most frequent and disturbing of postnatal causes are
circumcision accidents that result in the permanent loss of an infant
boy‘s penis.
 Prenatal causes of intersex conditions include many genetic and
chromosomal conditions.

Treatment:-
 Ideally, a team of health care
professionals with expertise in intersex
should work together to understand and
treat the child with intersex -- and to
understand, counsel, and support the
entire family.

 Parents should understand controversies
and changes in treating intersex in
recent years.
 Surgery was often recommended.
 It was considered easier to reconstruct
female genitalia than functioning male
genitalia, so if the "correct" choice was
not clear, the child was often assigned to
be a girl.

 AMBIGIUOUS GENITALIA:-
Ambiguous genitalia is a birth defect where the outer
genitals do not have the typical appearance of either
a boy or a girl.
 Sign and Symptoms:-
 Usually, ambiguous genitalia in genetic females
(babies with two X chromosomes) has the following
features:
 An enlarged clitoris that looks like a small penis
 The urethral opening (where urine comes out) can
be along, above, or below the surface of the clitoris.
 he labia may look like a scrotum
 The infant may be thought to be a male with
undescended testicles
 Sometimes a lump of tissue is felt in the labia,
further making it look like a scrotum with testicles.
 In a genetic male (one X and one Y chromosome),
ambiguous genitalia usually include the following
features:
 A small penis (less than 2-3 centimeters or 0.8-1.2
inches) that looks like an enlarged clitoris (the
clitoris of a newborn female is normally somewhat
enlarged at birth).
 The urethral opening may be along, above, or below
the penis; it can be as low as on the peritoneum,
further making the infant appear to be female.
 There may be a small scrotum that is separated and
looks like labia.
 Undescended testicles commonly occur with
ambiguous genitalia.

 Causes:-
 Pseudohermaphroditism. The genitalia are of one sex, but some physical
characteristics of the other sex are present.
 Mixed gonadal dysgenesis (MGD). An intersex condition in which there
are some male structures (gonad, testis), as well as a uterus, vagina, and
fallopian tubes
 Congenital adrenal hyperplasia. This condition has several forms, but the
most common form causes the genetic female to appear male. Many
states test for this potentially life-threatening condition during newborn
screening exams.
 Lack of testosterone cellular receptors. Even if the body makes the
hormones needed to develop into a physical male, the body cannot
respond to those hormones. This produces a female body-type, even if
the genetic sex is male.
 Lack of production of certain hormones can cause the embryo to develop
with a female body type, regardless of genetic sex
 If the mother takes certain medications (such as androgenic steroids),
they may make a genetic female look more male
 Chromosomal abnormalities

 Treatment:-
 Medications
Hormone medications may help correct the hormonal imbalance. In
some children, hormones may be administered shortly after birth
and may be the only treatment necessary.
 Surgery
In children with ambiguous genitalia, surgery may be used to:
 Preserve normal sexual function
 Create more natural-looking genitals
 For girls with ambiguous genitalia, the sex organs often work
normally despite the ambiguous outward appearance. If a girl's
vagina is hidden under her skin, surgery in childhood can help with
sexual function later. For boys, surgery to reconstruct an incomplete
penis may improve appearance and make erections possible.

 CONGENITAL ADRENAL HYPERPLASIA:-
―Congenital adrenal hyperplasia refers to a group of inherited disorders
of the adrenal gland. It is an autosomic recessive condition.‖
 Causes:-
 People have 2 adrenal glands, one located on top of each of their
kidneys. These glands make hormones, cortisol and aldosterone,
that are essential for life. People with congenital adrenal hyperplasia
lack an enzyme the adrenal gland needs to make the hormones.
 At the same time, the body produces more androgen, a type of male
sex hormone. This causes male characteristics to appear early (or
inappropriately).
 Symptoms will vary, depending on the type of congenital adrenal
hyperplasia someone has and their age when the disorder is
diagnosed.
 Girls with a more severe form often have abnormal genitals at birth
and may be diagnosed before symptoms appear.
 Boys will appear normal at birth even if they have a more severe
form.

 In children with the more severe form of the disorder,
symptoms often develop within 2 or 3 weeks after birth.
 Poor feeding or vomiting
 Dehydration
 Electrolyte changes (abnormal levels of sodium
and potassium in the blood)
 Abnormal heart rhythm
 Girls with the milder form will usually have normal
female reproductive organs (ovaries, uterus, and
fallopian tubes). They may also have the following
changes:
 Abnormal menstrual periods or failure to menstruate
 Early appearance of pubic or armpit hair
 Excessive hair growth or facial hair
 Failure to menstruate
 Some enlargement of the clitoris
 Boys with the milder form often appear normal at birth.
However, they may appear to enter puberty early.
Symptoms may include:
 Deepening voice
 Early appearance of pubic or armpit hair
 Enlarged penis but normal testes
 Well-developed muscles
 Both boys and girls will be tall as children but much
shorter than normal as adults.

 Treatment:-
 The goal of treatment is to return hormone levels to normal, or near normal.
This is done by taking a form of cortisol, most often hydrocortisone, three
times per day. People may need additional doses of medicine during times of
stress, such as severe illness or surgery.
 The health care provider will determine the genetic sex of the baby with
abnormal genitalia by checking the chromosomes. Girls with male-looking
genitals may have surgery during infancy to correct the abnormal
appearance.
 Steroids used to treat congenital adrenal hyperplasia do not usually cause
side effects, such as obesity or week bones.
 It is important for parents to report signs of infection and stress to child's
health care provider because the child may need more medication.
 Steroids cannot be stopped suddenly because doing so may lead to adrenal
insufficiency.

 TERATOGENIC CAUSES:-
―Teratogens are substances or other factors that can cause congenital
abnormalities, which are also called birth defects. Usually these
abnormalities arise in the third to eighth weeks of pregnancy, when the
major organ systems are forming. Examples of teratogens include
certain chemicals, medications, and infections or other diseases in the
mother.‖
 Chemicals and medications
 It is difficult to determine whether a particular chemical or medication
causes congenital abnormalities. This is because many women take
medications during pregnancy, and most studies have to rely on the
mother‘s memory of what she took while she was pregnant.
 Some anti-epileptic drugs are associated with a wide array of birth
defects, such as cardiovascular abnormalities, cleft palate, and
microcephaly, which is a condition where the brain is too small. These
drugs include phenytoin, valproic acid, and trimethadione. Women with
epilepsy need special monitoring and care during pregnancy, which may
include a change in medication.
 Warfarin, a blood-thinning drug, is a teratogen. Warfarin can cause
central nervous system defects, including mental retardation, as well as
problems with the optic nerves.
 Drugs called angiotensin-converting enzyme (ACE) inhibitors, which are
used to treat high blood pressure, can cause a number of problems
during pregnancy. ACE inhibitors can cause fetal growth restriction,
problems with the baby‘s kidneys, and sometimes death of the baby
during pregnancy.

 Isotretinoin, which is used to treat severe acne, is also linked with a
number of congenital abnormalities. These include cleft palate, heart
defects, abnormalities of the outer ears, and underdevelopment of
the lower jaw. Isotretinoin is also linked with neural tube defects.
 Some types of tranquilizers, such as phenothiazine and lithium, are
thought to be teratogens. Similarly, drugs used to treat anxiety, such
as diazepam, are linked with congenital abnormalities such as cleft
lip or palate.
 Hormones called androgens and progestins have been shown to
make female fetuses more masculine. The baby‘s clitoris may be
larger than normal, and the outer lips surrounding her genitals may
be fused.
 Another hormone called diethylstilbestrol (DES), which is a form of
estrogen, can cause abnormalities of the uterus, vagina, and cervix in
girls.

Alcohol, smoking, and other drugs
Alcohol use is a well-known cause of congenital abnormalities during
pregnancy.

Abnormalities caused by alcohol in pregnancy include deformities of the face,
arms, and legs, heart conditions, mental retardation, and fetal growth
restriction.

Cigarette smoking is linked with fetal growth restriction and premature birth.
Smoking may also cause problems with the development of the brain,
cardiovascular system, and respiratory system.

Exposure to marijuana during pregnancy may result in low birth weight,
intracranial bleeding, jitteriness, low blood sugar, low levels of calcium in the
blood, or an infection of the blood called sepsis.

The use of opioid drugs, such as heroin or methadone, during pregnancy can
lead to fetal growth restriction, premature birth, and low birth weight.
Cocaine use is known to cause numerous problems during pregnancy. These
include miscarriage, fetal growth restriction, and problems with the
development of the urinary system or genital tract

Infections in the mother

 ―CHEAP TORCHES‖ is an acronym for a special group of infections
that can affect the developing baby during pregnancy. CHEAP
TORCHES stands for the following:
 C: Chickenpox and shingles
H: Hepatitis B, C, D, E
E: Enteroviruses, a group of viruses including poliovirus
A: AIDS
P: Parvovirus B19, also known as fifth disease
 T: Toxoplasmosis
O: Other infections such as group B streptococcus, listeria, candida
R: Rubella
C: Cytomegalovirus
H: Herpes simplex virus
E: Everything else sexually transmitted such as gonorrhea and
chlamydia
S: Syphilis

 Myles (text book of midwifes)
 Medical dictionary
 Adam.com
 Medlineplus medical encyclopedia
 Medicine.net
 Kidshealth.com

Congenital abnormalities by Erum Khowaja

More Related Content

What's hot (20)

Viewers also liked (20)

Similar to Congenital abnormalities by Erum Khowaja (20)

Recently uploaded (20)

Congenital abnormalities by Erum Khowaja