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Blepharophimosis-intellectual disability syndrome, Ohdo type

Synonym(s) BMRS, Ohdo type
Blepharophimosis syndrome, Ohdo type
Ohdo syndrome
Ohdo-Madokoro-Sonoda syndrome
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Infancy
ICD-10 -
  • C0796094
  • C2931643
MeSH -
MedDRA -


Disease definition

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.

Clinical description

Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia.

Genetic counseling

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
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