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.
MONDO:0019054
congenital limb malformation
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
excluded_subClassOf
MONDO:0021147
disorder of development or morphogenesis
is_a
congenital deformity of the thumb and congenital alopecia
related
hypotrichosis associated with congenital hypoplasia of the thumb
related
sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation
related
thumb deformity and alopecia
exact
thumb deformity, alopecia, pigmentation anomaly
related