1. Diseases
  2. Donnai-Barrow syndrome

Donnai-Barrow syndrome

Disease Export to PDF
Name:
Donnai-Barrow syndrome
Description:
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.
ORPHAcode:
2143
Synonyms:
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
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
LRP2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14