Preferred Label : biemond syndrome II;
Définition CISMeF : 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.;
MeSH synonym : Biemond syndrome type 2;
Origin ID : C565902;
UMLS CUI : C1859487;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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.
