familial anetoderma
ORPHA: 228277
Overview
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder
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 familial anetoderma, sourced from HPO and Orphanet clinical annotations.
PapuleHigh, narrow palateGeneralized joint hypermobilityLumbar hyperlordosisAbnormal tibia morphologyIrregular dentition
Classification & Codes
Orphanet Code
ORPHA:228277familial anetoderma
| Orphanet | ORPHA:228277 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO