This is a rare malformation syndrome of unknown etiology but it occurs in a familial pattern suggestive of a genetic causation. Only a few individuals, all female, have been reported.
The facial features are coarse and excessive hair is common throughout the body. The scalp hairline is low and the eyebrows are bushy. The eyes have been described as small and the eyelids may have small notches. Premature closure of skull bones creates a malformed skull while the midface is flattened. The teeth are often small and abnormally placed. The oral palate is high and narrow. The bones in some of the fingers and toes are underdeveloped and there is minor webbing between some of the digits. Some patients have a conductive hearing loss. Physical and mental growth seems to be normal. The facial features grow coarser over time.
Nothing is known about any gene mutations causing this disorder. However, siblings have been reported suggesting this might be an autosomal recessive disorder. There is no explanation why all reported cases have been female.
The clinical features necessary to the diagnosis of this condition have not been established. Medical geneticists and pediatricians are most likely to make the diagnosis after ruling out other malformation syndromes.