neurofaciodigitorenal syndrome
MeSH: C537388ORPHA: 2673
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 neurofaciodigitorenal syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyBrachycephalyLow-set earsAtresia of the external auditory canalProminent nasal bridgeTriphalangeal thumbIntellectual disabilityHypotoniaIntrauterine growth retardationShort statureAbnormal metacarpal morphologyAbnormal antitragus morphologyAbnormal tragus morphologyHypoplasia of the premaxillaProminent foreheadAbnormal oral mucosa morphologyCryptorchidismUnilateral renal agenesisEpicanthusAbnormality of the philtrumMandibular prognathiaHypertelorismDownslanted palpebral fissuresPtosisPectus excavatumCorneal dystrophyPlagiocephalyAbnormality of the elbowAbnormal distal phalanx morphology of fingerAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C537388Orphanet Code
ORPHA:2673neurofaciodigitorenal syndrome
| MeSH | C537388 |
| Orphanet | ORPHA:2673 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO