deafness-enamel hypoplasia-nail defects syndrome
MeSH: C535994ORPHA: 3220
Overview
medical condition
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 deafness-enamel hypoplasia-nail defects syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal fingernail morphologyIntellectual disabilityExternal genital hypoplasiaPili tortiAbnormal toenail morphologyAbnormal hair quantityThin eyebrowAbnormality of nail colorRound facePrimary amenorrheaLarge handsShort statureArrhythmiaSensory neuropathyAcanthosis nigricansHyporeflexiaCerebral calcificationDelayed skeletal maturationIchthyosisPeripheral neuropathyHigh anterior hairlineMuscle flaccidityCamptodactyly of fingerHypogonadismAbnormality of the dentitionHearing impairmentSensorineural hearing impairmentAbnormal eyelid morphologyAbnormal eyebrow morphologyAbnormal nasolacrimal system morphologyTaurodontiaAbnormal dental enamel morphologyDiabetes mellitus
Classification & Codes
MeSH Code
C535994Orphanet Code
ORPHA:3220deafness-enamel hypoplasia-nail defects syndrome
| MeSH | C535994 |
| Orphanet | ORPHA:3220 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO