Biemond syndrome type 2

Orpha code: 141333OMIM code: 210350

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
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl