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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1387
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Less than 20 cases have been described in the literature so far.
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).
Mutations in the RAB3GAP2 gene have been identified in some patients.
Transmission is autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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