Donnai-Barrow syndrome
MeSH: C536390ORPHA: 2143
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Donnai-Barrow syndrome, sourced from HPO and Orphanet clinical annotations.
ProteinuriaAbnormality of the uterusMacrocephalyWide anterior fontanelHypertelorismBroad foreheadWidow's peakPosteriorly rotated earsSensorineural hearing impairmentDownslanted palpebral fissuresProptosisProgressive visual lossRetinal detachmentMyopiaRetinal dystrophyIris colobomaCongenital diaphragmatic herniaBicornuate uterusIntellectual disabilitySeizureGlobal developmental delayUmbilical herniaOmphaloceleVentricular septal defectIntestinal malrotationShort noseDepressed nasal bridgeAplasia/Hypoplasia of the corpus callosum
Classification & Codes
MeSH Code
C536390Orphanet Code
ORPHA:2143Donnai-Barrow syndrome
| MeSH | C536390 |
| Orphanet | ORPHA:2143 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO