Acrofacial Dysostosis, Cincinnati Type

Background and History: 

This is a hereditary malformation syndrome that primarily involves the face. 

Clinical Correlations: 

The anomalous facial features are present at birth.  The head is often small.  The lower jaw can be severely underdeveloped requiring a breathing tube (tracheostomy) in the newborn period.  The external ears (pinnae) appear large and sometimes have no opening resulting in severe hearing loss.  The eyes themselves appear to be lower than normal and the openings between the eyelids (lid fissures) may slant downwards. The lower lids and sometimes the upper can have ‘clefts’ (colobomas).  The bones of the midface are underdeveloped resulting in a flattened appearance.  Older children are often small in stature.

Only a few individuals with this syndrome have been reported.

Genetics: 

This is an autosomal dominant condition caused by a mutation in a specific gene.  It can be passed from affected parent to a child with a 50% probability.

Diagnosis and Prognosis: 

The diagnosis can be made at birth but the rarity of this condition makes it difficult.  A pediatrician, pediatric geneticist, or a dysmorphologist can be helpful.

No treatment is available for the general condition but individual features such as the lid colobomas could be surgically treatable.  The impact on longevity is unknown.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant