This is a rare and severe heritable syndrome that is always lethal. Infants may be stillborn or die in the first few days of life secondary to extensive malformations throughout multiple organ systems.
The placenta is small, resulting in intrauterine growth retardation. The head is small (microcephaly), the ears are often large and malformed, the nose is flattened and the mouth is large and round. The eyeballs are small but appear to bulge, an appearance that is exaggerated by, in some cases, absence of the eyelids. The eyelashes are frequently absent. The neck is short.
The brain is severely malformed and the lungs are underdeveloped. The fingers and toes are shortened and sometimes fused. There is generalized edema noted in the skin which is also scaly and rough. Various heart and vascular defects occur. Malformations of the kidneys and genitalia are often present.
This is an autosomal recessive condition due to mutations in both copies of a specific gene. Parents are clinically normal but carry a single copy of the mutation and the risk of recurrence in another child is 25%.
The malformations are evident at birth and the diagnosis is likely to be made by a pediatrician or neurologist. No treatment is available and infants usually do not live beyond a few days of age if born alive.