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Blepharophimosis-intellectual disability syndrome, Ohdo type

Disease definition

A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

ORPHA:2728

Classification level: Disorder
  • 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, Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD2F.1Y
  • OMIM: 249620
  • UMLS: C0796094
  • MeSH: C536232
  • GARD: 3348
  • MedDRA: -

Summary

Epidemiology

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.

- Last update: May 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.