Opitz-GBBB syndrome
ORPHA: 2745
Overview
monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form
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 Opitz-GBBB syndrome, sourced from HPO and Orphanet clinical annotations.
HypertelorismLong philtrumWide nasal bridgeProminent foreheadHypospadiasCleft palateWidow's peakAnteverted naresTelecanthusPtosisShort attention spanIntellectual disabilityAbnormal corpus callosum morphologySpecific learning disabilityAbnormal facial shapeVentriculomegalyShort statureLaryngeal cleftNeurodevelopmental delayCleft lipInguinal herniaCryptorchidismBifid scrotumShawl scrotumVesicoureteral refluxAbnormality of the urinary systemAbnormality of the genitourinary systemHydronephrosisHigh palateLarge fontanellesMicrocephalyMicrognathiaPosteriorly rotated earsHearing impairmentLow-set earsDownslanted palpebral fissuresAutistic behaviorCongenital diaphragmatic herniaAgenesis of corpus callosumDandy-Walker malformationCraniosynostosisUmbilical herniaOmphaloceleAbnormal heart morphologyVentricular septal defectAtrial septal defectPatent ductus arteriosusPatent foramen ovaleCoarctation of aortaDysphagiaAnal atresiaHypoplasia of the corpus callosumRecurrent aspiration pneumoniaPoor speechTracheoesophageal fistulaAortic root aneurysmEctopic anusPreauricular pitPersistent left superior vena cavaProminent metopic ridgeAplasia/Hypoplasia of the cerebellar vermisFeeding difficulties in infancyStridorAbnormal brain morphologyDelayed ability to walkEnlarged ovariesStrabismusAbnormality of refractionHypodontiaNatal toothBicornuate uterusTracheomalaciaVertebral segmentation defectAnkyloglossiaThyroglossal cyst
Classification & Codes
Orphanet Code
ORPHA:2745Opitz-GBBB syndrome
| Orphanet | ORPHA:2745 |
| Treatments | 0 drug(s) |
| Symptoms on record | 75 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO