Thumb deformity-alopecia-pigmentation anomaly syndrome- MedGen UID:
- 348284
- •Concept ID:
- C1861168
- •
- Disease or Syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.