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Start free with EleplanDonnai-Barrow syndrome
ORPHA:2143Malformation syndrome
Also called 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
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13Common30–79%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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