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Blepharophimosis-intellectual disability syndrome, Ohdo type

Orpha number ORPHA2728
Synonym(s) BMRS, Ohdo type
Blepharophimosis syndrome, Ohdo type
Ohdo syndrome
Ohdo-Madokoro-Sonoda syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS
  • C0796094
  • C2931643
MeSH -
MedDRA -
SNOMED CT
  • 412787009

Summary

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. So far, less than 30 patients have been reported worldwide. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, favoring autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.


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Detailed information

Clinical genetics review
  • EN (2013)
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