Biemond syndrome type 2

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Biemond syndrome type 2

Synonyms: Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Biemond syndrome type 2?

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