Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies

Background and History: 

This is a rare, recently reported inherited syndrome found in two German families.  Its major features include both physical malformations and neurologic defects.

Clinical Correlations: 

Severe shortness of stature may be evident in the first years of life.  Development delays and mild intellectual disability are common.  The digits are often stubby and the ends, especially in the thumbs, appear broad.  The forehead is high, the eyes appear deep-set, the lid fissures slant upward, and the ears are low-set and rotated posteriorly.  Hair is generally sparse and individuals appear to age prematurely.  Two of the three reported patients in two German families were highly nearsighted.  Two also developed pigmentary changes characteristic of some retinal degeneration.  Some hearing loss may be present as well.

MRI of the brain reveals nonspecific changes.


This is an autosomal recessive condition in which both parents contribute a mutation in one of a specific pair of genes.  The offspring inherits both of the mutations (one from the mother and one from the father) which is required for expression of the disorder.  Such parents convey a 25% risk to each of their offspring for a recurrence of the condition.

Diagnosis and Prognosis: 

There is no treatment available for this specific condition.  However, special education, corrective eyeglasses, and hearing assistance allow students with this disorder to achieve some improvement in their mental functioning.  There is no information regarding longevity.

Additional Information
Autosomal recessive