Martsolf syndrome

Other Names: Cataract-intellectual disability-hypogonadism syndrome This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Epidemiology

Less than 20 cases have been described in the literature so far.

Cause

Mutations in the RAB3GAP2 gene have been identified in some patients.

Signs and symptoms

Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive.

NIH genetic and rare disease info

• NIH info on Martsolf syndrome

Martsolf syndrome is a rare disease.

Martsolf syndrome Resources
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