orofaciodigital syndrome IV
MeSH: C537133ORPHA: 2753
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 orofaciodigital syndrome IV, sourced from HPO and Orphanet clinical annotations.
Abnormality of the tongueMedian cleft upper lipAbnormality of the gingivaAbnormal oral frenulum morphologyOrofacial cleftMicrocephalyRetrognathiaHypertelorismMicrognathiaAbnormality of the outer earPosteriorly rotated earsLow-set earsConductive hearing impairmentWide noseChoanal atresiaDepressed nasal ridgeAbnormality of eye movementPostaxial hand polydactylyPreaxial hand polydactylyIntellectual disabilityGlobal developmental delaySpecific learning disabilityAbnormal joint morphologyJoint dislocationIntrauterine growth retardationOligohydramniosLaryngomalaciaRecurrent respiratory infectionsGenu varumMicromeliaShort noseSevere short statureAplasia/Hypoplasia of the tibiaFinger syndactylyDecreased testicular sizeAplasia/Hypoplasia of the mandibleOral synechiaAbsent testisHamartomaMicrotia, third degreeAbnormal oral mucosa morphologyMonorchismCleft palateSubmucous cleft hard palateBifid uvulaProptosisSplit handFailure to thriveGrowth delayCerebral cortical atrophyHigh, narrow palateFeeding difficultiesSubcortical cerebral atrophyCerebral cortical hemiatrophyCamptodactyly of fingerRenal agenesisRectovaginal fistulaShort philtrumAbnormality of the earHypoplastic toenailsAnal atresiaPulmonary hypoplasiaPerineal fistulaBilateral lung agenesisPrimary adrenal insufficiencyRenal hypoplasia/aplasiaAbsent crus of helixRectal atresiaAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C537133Orphanet Code
ORPHA:2753orofaciodigital syndrome IV
| MeSH | C537133 |
| Orphanet | ORPHA:2753 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO