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Donnai-Barrow syndrome

^ http://www.orpha.net/ORDO/Orphanet_2143


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

Synonyms: Holmes-Schepens syndrome, Facio-oculo-acoustico-renal syndrome, Syndrome of ocular and facial anomalies, telecanthus and deafness, Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, FOAR syndrome, DBS/FOAR syndrome, Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Term info

database cross reference
  • OMIM:222448 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (Attributed)
  • UMLS:C1857277 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (NTBT (narrower term maps to a broader term))
  • MeSH:C536390 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:222448, UMLS:C1857277, ICD-10:Q87.8, MeSH:C536390

notation

ORPHA:2143