Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Zespół hipogonadyzm-niski wzrost-szczelina-polidaktylia przedosiowa ORPHA code 141333 OMIM code 210350 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl