hypotrichosis with juvenile macular dystrophy
MeSH: C537698ORPHA: 1573
Overview
a hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.
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 hypotrichosis with juvenile macular dystrophy, sourced from HPO and Orphanet clinical annotations.
Macular degenerationBlindnessNystagmusHyperkeratosisMelanocytic nevusFrecklingSparse scalp hairFine hairBrittle hairSkeletal dysplasiaAbnormal limb bone morphologyPili tortiShort statureAbnormal macular pigmentationImmunologic hypersensitivity
Classification & Codes
MeSH Code
C537698Orphanet Code
ORPHA:1573hypotrichosis with juvenile macular dystrophy
| MeSH | C537698 |
| Orphanet | ORPHA:1573 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO