Biemond syndrome
Overview
Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome.
Diagnosis
The diagnosis is not always made quickly because it is often about an obese child having difficulties of training but without polydactyly. The appearance of eye trouble in connection with chorioretinitis allows the diagnosis, although this syndrome is the second more badly diagnosed, among syndromic Pigmentary Retinites (associating other symptoms).