Biemond syndrome type 2

Rare Disease

MONDO:0008864

Also Known As

Biemond syndrome type 2hypogonadism-short stature-coloboma-preaxial polydactyly syndromeBIEMOND syndrome IIBS2Biemond syndrome 2iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactylyiris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly

Definition

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.