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Congenital Anomalies, Dysmorphic Features

The document discusses the importance of early detection and management of congenital anomalies and dysmorphic features, which can lead to long-term disabilities. It outlines causal conditions, key objectives for healthcare providers, and enabling objectives that include thorough patient assessment and appropriate referrals for specialized care. The document emphasizes the need for supportive counseling for families and the importance of identifying potential teratogenic exposures.

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13 views2 pages

Congenital Anomalies, Dysmorphic Features

The document discusses the importance of early detection and management of congenital anomalies and dysmorphic features, which can lead to long-term disabilities. It outlines causal conditions, key objectives for healthcare providers, and enabling objectives that include thorough patient assessment and appropriate referrals for specialized care. The document emphasizes the need for supportive counseling for families and the importance of identifying potential teratogenic exposures.

Uploaded by

hamerhamer573
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Congenital anomalies, dysmorphic features

(March 2023)

Rationale
Congenital anomalies and dysmorphic features can be associated with long-term disability,
making early detection and identification vital. Although early involvement of pediatric or genetic
specialists is appropriate, primary care physicians are often required to contribute immediate care
and assist with long-term management.

Causal Conditions
(list not exhaustive)

Teratogenic disorders (e.g., fetal alcohol spectrum disorder, congenital cytomegalovirus


infections)
Genetic disorders (e.g., trisomy 21, fragile X syndrome)
Mechanical forces (e.g., constriction band syndrome)

Key Objectives
Given a patient with congenital anomalies or dysmorphic features, the candidate will investigate
the cause, determine the severity of the immediate presentation, and initiate an appropriate
management plan. Particular attention should be paid to the identification of patients requiring
early referral for specialized care and to the provision of supportive counselling for parents.

Enabling Objectives
Given a patient with congenital anomalies or dysmorphic features, the candidate will

list and interpret critical clinical findings, including those derived from
a. a complete history, with particular attention to any potential teratogenic exposures,
and a detailed family history; and

Medical Council of Canada | Congenital anomalies, dysmorphic features 1


b. an appropriate physical examination, with particular attention to signs of severe
anomalies (e.g., cardiovascular malformations, ambiguous genitalia) as well as to
recognizable phenotypic patterns (e.g., trisomy 21 syndrome);

list and interpret appropriate investigations (e.g., microarray; karyotyping; screening for
toxoplasmosis, other agents, rubella, cytomegalovirus, herpes simplex [TORCH]); and
construct an effective initial management plan, including
a. stabilization and immediate referral in case of respiratory and/or hemodynamic
instability;

b. referral for specialized pediatric or genetic care if necessary;

c. referral for therapeutic services, counselling, and family support groups, if indicated;
and

d. provision of family support and counselling regarding recurrence risk, including


discussion of prenatal strategies for the prevention of recurrence, indications for
antenatal screening and diagnostic prenatal testing, and referral for genetic
counselling, if indicated.

Medical Council of Canada | Congenital anomalies, dysmorphic features 2

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