craniofaciofrontodigital syndrome
MeSH: C567298ORPHA: 363705
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 craniofaciofrontodigital syndrome, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresHypertrichosisCongenital, generalized hypertrichosisThick hairLong philtrumEdemaCutis laxaProminent superficial veinsSeizureHypotoniaGlobal developmental delayJoint hypermobilityPolyhydramniosPremature birthCardiomegalyPatent ductus arteriosusPericardial effusionGastroesophageal refluxMigraineDyspneaRespiratory distressHeadacheExercise intoleranceDepressed nasal bridgePalmoplantar cutis laxaHyperintensity of cerebral white matter on MRIPremature skin wrinklingMacroglossiaEpicanthusLow anterior hairlineHypertelorismProptosisPectus carinatumHemiparesisStrokeSpecific learning disabilityLarge for gestational ageCongestive heart failureAortic valve stenosisMitral regurgitationAbnormal heart valve morphologyPulmonary arterial hypertensionGastrointestinal hemorrhageGastrointestinal dysmotilityScoliosisSkeletal dysplasiaProminent median palatal rapheShort statureSacral hypertrichosisDilatation of the cerebral arteryAnomalous branches of internal carotid arteryFinger joint hypermobilityProminent foreheadArrhythmiaPersistent fetal circulationThick vermilion borderLower eyelid edemaAbnormal cerebral vascular morphologyHerniaGingival overgrowthOsteopeniaOsteoporosisLarge handsMild intellectual disabilityVentricular septal defectAtrial septal defectBicuspid aortic valveCoarctation of aortaPyloric stenosis
Classification & Codes
MeSH Code
C567298Orphanet Code
ORPHA:363705craniofaciofrontodigital syndrome
| MeSH | C567298 |
| Orphanet | ORPHA:363705 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO