Donnai-Barrow syndrome
Findings
No curated finding names Donnai-Barrow syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009104), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 4 of 4 reported patients
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- 4 of 4 reported patients
- High myopiaHPOHP:0011003
- 18 of 18 reported patients
- Non-acidotic proximal tubulopathyHPOHP:0005574
- 100% of reported patients
- ProteinuriaHPOHP:0000093
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Downslanted palpebral fissuresHPOHP:0000494
- 8 of 11 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 26 of 33 reported patients
- Very frequent (80% to 99% of cases)
- Infra-orbital creaseHPOHP:0100876
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRP2HGNC:6694
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: Donnai-Barrow syndrome
- Also called
- DBS/FOAR syndromediaphragmatic hernia-exomphalos-hypertelorism syndromediaphragmatic hernia-hypertelorism-myopia-deafness syndromediaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuriafacio-oculo-acoustico-renal syndromefaciooculoacousticorenal syndromeFOAR syndromeHolmes-Schepens syndromesyndrome of ocular and facial anomalies, telecanthus and deafness