Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

Background and History: 

Two families with an inherited complex syndromic disorder with features noted in the title have been reported.

Clinical Correlations: 

Patients have mild dysmorphic facial features including a depressed nasal bridge, lid fissures that slant downward, and eyes appearing to be abnormally far apart.  Sparse hair is notable in the scalp, eyebrows, and eyelashes.  The ears are low-set, the lower jaw appears underdeveloped and the skull is high, long, and somewhat narrow.  These features may be noted at birth while developmental delay and short stature are evident later.  The teeth and toenails do not fully develop.

The kidneys appear to function normally although some red blood cells and protein may occasionally be found in the urine.  The heart may have a hole in its septum.  Brain imaging may show some underdevelopment and malformations.


This is an autosomal recessive disorder in which both members of a specific gene pair have been changed (mutated).  The parents are normal but they confer a 25% risk to each of their offspring to have this condition.

Diagnosis and Prognosis: 

This complex condition in most cases requires a multidisciplinary team for diagnosis and care.  There is no treatment for the general condition but physical therapy and special education may be helpful.  Nothing is known regarding longevity.

Additional Information
Autosomal recessive