Medical Council of Canada

Medical expert

Congenital Anomalies, Dysmorphic Features - 36-2

Rationale

Congenital anomalies and dysmorphic features are often 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 subsequently assist with long-term management.

Causal Conditions

(list not exhaustive)
  1. Teratogenic disorders (e.g., fetal alcohol spectrum disorder, congenital cytomegalovirus infections)
  2. Genetic disorders (e.g., Down syndrome, fragile X syndrome)
  3. 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 will 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 counseling for parents.

Enabling Objectives

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

  1. list and interpret critical clinical findings, including those derived from
    1. an appropriate history with particular attention to any potential teratogenic exposures and family history;
    2. an appropriate physical examination, with particular attention to signs of severe anomalies (e.g., cardiovascular malformations) to ambiguous genitalia as well as to recognizable phenotypic patterns (e.g., Down syndrome);
  2. list and interpret appropriate investigations (e.g., karyotype, screening for toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and human immunodeficiency virus [TORCH]);
  3. construct an effective initial management plan, including
    1. stabilization and immediate referral in case of hemodynamic instability;
    2. referral for specialized pediatric or genetic care, if necessary;
    3. referral for therapeutic services, counseling and family support groups, if indicated;
    4. provision of family support and counseling 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 counseling, if indicated;
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