Biemond syndrome type 2

What is Biemond syndrome type 2?

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.

Other condition names

  • Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Inheritance type



  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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