Thumb deformity-alopecia-pigmentation anomaly syndrome

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.

Also known as: thumb deformity and alopecia, congenital deformity of the thumb and congenital alopecia, hypotrichosis associated with congenital hypoplasia of the thumb, sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation, thumb deformity, alopecia, pigmentation anomaly

0 clinical trials for this condition and its sub-types, 0 tagged with Thumb deformity-alopecia-pigmentation anomaly syndrome itself.