Feingold Syndrome 1

Background and History: 

This rare multisystem inherited syndrome was first reported in 1997.

Clinical Correlations: 

The head is usually small (microcephaly) and the face appears somewhat triangular.  The lower jaw is shortened (micrognathia) and the bridge of the nose is broad.  The ears are often set low and rotated posteriorly.  The opening between the eyelids is narrow and appears to slant upward.  Several of the toes are fused (second and third, plus fourth and fifth), while the second and fifth fingers appear short.  The fifth finger often curves inward.  The thumb sometimes is underdeveloped.  Most patients are short in stature.

There may be abnormal openings between the esophagus and trachea (breathing tube).  There may be malformations of parts of the small intestines as well as the esophagus creating blockage.  Cardiac and renal abnormalities are present in some patients.  The vertebrae can be malformed as well.  A few patients have hearing difficulties.

Intelligence may be normal but often is below average and learning difficulties are common. 


This is a rare disorder caused by a mutation in a gene.  Family trees are consistent with autosomal dominant inheritance in which affected parents transmit the disorder directly to their offspring with a 50% probability.

Diagnosis and Prognosis: 

The diagnosis is likely made by a pediatrician in consultation with gastroenterologists and other specialists.  Treatment is usually surgical for the serious defects such as blockage of the gastrointestinal tract but no treatment is available for the overall syndrome.  Special education may be helpful.  Nothing is known about longevity.

Additional Information
Autosomal dominant