There are many congenital and developmental conditions resulting from gene changes (mutations). Each mutation usually results in a more or less characteristic clinical syndrome but there is often considerable overlap. This disorder is manifest primarily in heart and facial anomalies.
Defects in the internal heart walls are consistently present. Sometimes the pulmonary heart valve is anomalous as well. The eyelids droop (ptosis), the eyes are often misaligned (strabismus) and appear wide apart, the mouth is small, the lid openings slant upwards, and the ears are rotated posteriorly. In a few patients, the skull is smaller than normal.
General development is delayed as manifest by delays in speech and walking and in general intellectual functioning. Muscle tone is often decreased resulting in generalized 'floppiness' and joint hypermobility. Feeding difficulties are common.
Imaging of the brain reveals widespread developmental abnormalities.
This disorder results from a single mutation (change) in a specific gene which usually arises de novo since those who carry the change do not reproduce. The gene configuration suggests autosomal dominant inheritance as the most likely transmission pattern.
The diagnosis is based on the unique pattern of anomalies although each of these individually are not diagnostic. No treatment is known and supportive care is required. There are no data on longevity.