branchiooculofacial syndrome
ORPHA: 1297
Overview
autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts
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 branchiooculofacial syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsEverted lower lip vermilionAbnormal pinna morphologyConductive hearing impairmentColobomaAtypical scarring of skinHemangiomaDeep philtrumPostauricular pitPreauricular pitSupraauricular pitHigh palateDolichocephalyWide nasal bridgeBroad nasal tipNasolacrimal duct obstructionUpslanted palpebral fissureIris colobomaMicrodontiaIntrauterine growth retardationHypernasal speechAbnormal speech patternPremature graying of hairShort statureTooth agenesisNon-midline cleft of the upper lipFingernail dysplasiaMulticystic kidney dysplasiaRenal agenesisHydronephrosisOrofacial cleftMicrocorneaStrabismusPtosisCataractPreaxial hand polydactylyUpper lip pit
Classification & Codes
Orphanet Code
ORPHA:1297branchiooculofacial syndrome
| Orphanet | ORPHA:1297 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO