orofaciodigital syndrome I
ORPHA: 2750
Overview
orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene
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 orofaciodigital syndrome I, sourced from HPO and Orphanet clinical annotations.
Median cleft upper lipLobulated tongueBroad alveolar ridgesAccessory oral frenulumHigh palateAbnormality of the faceHypertelorismWide nasal bridgeFrontal bossingAbnormality of the dentitionCleft palateTongue nodulesFacial asymmetryUnderdeveloped nasal alaeDownslanted palpebral fissuresHypodontiaAbnormal skull morphologyHand polydactylyIntellectual disabilitySeizureAtaxiaFoot polydactylyShort toeDeviation of fingerClinodactyly of the 5th fingerReduced bone mineral densityFinger syndactylyCone-shaped epiphysisHamartoma of tongueMulticystic kidney dysplasiaRenal insufficiencyProteinuriaHydronephrosisEpicanthusMicrognathiaHearing impairmentChronic otitis mediaChoanal atresiaTelecanthusAbnormal dental enamel morphologyHypertensionAbnormality of the skeletal systemDry skinMiliaBrachydactylyPostaxial hand polydactylyPreaxial hand polydactylyAgenesis of corpus callosumDandy-Walker malformationDystoniaTremorAlopeciaAbnormality of the pancreasPancreatic cystsExocrine pancreatic insufficiencyCoarse hairBrittle hairVascular dilatationElevated circulating hepatic transaminase concentrationSparse hairTarsal synostosisHypoplasia of the zygomatic boneOpen biteLip pitOdontogenic neoplasm
Classification & Codes
Orphanet Code
ORPHA:2750orofaciodigital syndrome I
| Orphanet | ORPHA:2750 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO