Dysmorphologist

Dysmorphology is the study of birth defects. Birth defects may result from environmental exposures, genetic causes or a combination of external and genetic factors. A dysmorphologist tries to determine what caused a problem and how to manage it.

What type of doctor is a dysmorphologist?

A dysmorphologist is a board-certified pediatrician who has spent two to three additional years in training focusing on the causes, treatment and prevention of birth defects.

A dysmorphologist:

  • Gathers information such as the family history and pregnancy history.
  • Evaluates any developmental or structural problems detected prenatally or postnatally.
  • Interprets available information from the viewpoint of developmental anatomy (i.e. Did the abnormality occur before birth (prenatally) or begin after birth (postnatally)? If prenatally, how early in fetal development did the problem occur? If there is more than one structural birth defect, is it part of an overall pattern of malformations or specific syndromes? Could the birth defect be caused by a single defect that then leads to a sequence of problems in development?).
  • Attempts to arrive at a specific diagnosis.
  • May recommend tests to confirm and/or rule out a diagnosis.
  • When possible, provides information regarding how the problem came about, the natural course of the condition and what may be done to assist the child before or after birth.
  • Discusses the chances that such a problem may occur again in a future pregnancy.
  • Discusses any measures that might be taken to reduce the risk or prevent a recurrence (i.e. extra folic acid to reduce the risk for a neural tube defect).
  • Discusses any prenatal procedures (i.e. CVS, amniocentesis, ultrasound) or genetic tests (such as chromosomes, DNA studies) that might detect a recurrence early in the pregnancy.
  • Provides consultation and follow-up as needed after birth for children born with malformations or specific syndromes requiring their unique expertise.

How do I know if I need to see a dysmorphologist?

If indicated, an appointment will be arranged by one of our perinatologists or a genetic counselor on our staff.

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