Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Donnai-Barrow syndrome

Orpha number ORPHA2143
Synonym(s) DBS/FOAR syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C1857277
MeSH
  • C536390
MedDRA -
SNOMED CT -

Summary

Donnai-Barrow syndrome is characterized by diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. Facial dysmorphism is specific, including a severe hypertelorism with downslanting palpebral fissures, a short bulbous nose, and posteriorly rotated ears. Some patients also have iris coloboma, retinal detachment, and intestinal malrotation. Intellectual impairment is variable. In rare cases, proteinuria is present and has lead to the suggestion that Donnai-Barrow and FOAR syndrome are allelic. Patients have facial characteristics that share similarities with several other disorders like Kniest syndrome and Stickler syndrome, but there is no evidence of skeletal anomalies in Donnai-Barrow syndrome. Donnai-Barrow syndrome is probably transmitted by an autosomal recessive mode of inheritance. This condition is not life-threatening but the functional prognosis depends on the degree of visual and hearing handicap and might be poor.

Expert reviewer(s)

  • Dr Juliette ALBUISSON
Last update: February 2005

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information
Clinical genetics review
  • EN (2011)
Get Acrobat Reader
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.