The dysmorphic newborn

What dysmorphology means

Dysmorphology refers to alterations of normal or typical morphology that can be observed and/or measured in other individuals with the same age or ethnic background. Dys, Greek, means disordered or abnormal, and morph means shape. Dysmorphology is concerned with the description and categorization of birth defects, the diagnosis of syndromes, and the investigation and counseling of affected individuals and their families. That last part is the shape of the whole approach: it does not end at a name.

When a genetic cause should be suspected

Genetic etiology should be suspected if the child has:

• Congenital anomalies, for example a major anomaly or more than 2 minor anomalies
• Growth deficit, for example short stature or failure to thrive, or macrosomia
• Developmental delay, mental deficit or developmental regression
• Failure to develop secondary sexual characteristics
• Ambiguous genitalia

The clues that point specifically to a chromosomal aberration are gathered as: dysmorphic, mental retardation, short stature, genital ambiguity, primary amenorrhea, azoospermia.

The four steps

1. Suspicion and analysis: history, detailed examination of the whole body, photography.
2. Confirmation of diagnosis: genetic tests, that is chromosomal, metabolic or DNA testing; and others, imaging, labs, hearing, EMG and NC.
3. Management and follow up.
4. Genetic counseling for recurrence risk and prevention of recurrence.

Note where hearing sits: it is inside step 2, beside the genetic test, not left to later.