autosomal dominant deafness-onychodystrophy syndrome
ORPHA: 79499
Overview
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges
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 autosomal dominant deafness-onychodystrophy syndrome, sourced from HPO and Orphanet clinical annotations.
Absent fingernailSevere sensorineural hearing impairmentAbnormality of the dentitionOligodontiaTriphalangeal thumbAbsent toenailAplasia/Hypoplasia of the nailsDolichocephalyHigh foreheadAplasia cutis congenitaIntellectual disabilitySeizurePes planusHypoplastic toenailsAbnormal facial shapePoor speechShort thumbAbsent thumbnailAbsent fifth fingernailSmall, conical teeth
Classification & Codes
Orphanet Code
ORPHA:79499autosomal dominant deafness-onychodystrophy syndrome
| Orphanet | ORPHA:79499 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO