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Donnai-Barrow syndrome

Disease definition

A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

ORPHA:2143

Classification level: Disorder
  • Synonym(s):
    • DBS/FOAR syndrome
    • Diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
    • FOAR syndrome
    • Facio-oculo-acoustico-renal syndrome
    • Holmes-Schepens syndrome
    • Syndrome of ocular and facial anomalies, telecanthus and deafness
    • Syndrome of ocular and facial anomalies, telecanthus and hearing loss
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 222448
  • UMLS: C1857277
  • MeSH: C536390
  • GARD: 1899
  • MedDRA: -

Detailed information

Professionals

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.