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Biemond syndrome type 2
rareBiemond 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.
- Identifiers
- MONDO:0008864 OMIM:210350Orphanet:141333
- Also known as
- Biemond syndrome 2 · BS2 · hypogonadism-short stature-coloboma-preaxial polydactyly syndrome · iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly · iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly
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