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Biemond syndrome type 2

Disease 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.

ORPHA:141333

  • Synonym(s):
    • Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: 210350
  • UMLS: C1859487  C2930903
  • MeSH: -
  • GARD: 882
  • MedDRA: -

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