Biemond syndrome type 2

Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.

Also known as: Biemond syndrome type 2, hypogonadism-short stature-coloboma-preaxial polydactyly syndrome, BIEMOND syndrome II, BS2, Biemond syndrome 2, iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly, iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly

0 clinical trials for this condition and its sub-types, 0 tagged with Biemond syndrome type 2 itself.