trichodysplasia-amelogenesis imperfecta syndrome
ORPHA: 79129
Overview
The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
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 trichodysplasia-amelogenesis imperfecta syndrome, sourced from HPO and Orphanet clinical annotations.
Amelogenesis imperfectaAlopecia of scalpTrichodysplasia
Classification & Codes
Orphanet Code
ORPHA:79129trichodysplasia-amelogenesis imperfecta syndrome
| Orphanet | ORPHA:79129 |
| Treatments | 0 drug(s) |
| Symptoms on record | 3 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO