Thumb deformity-alopecia-pigmentation anomaly syndrome

Orpha code: 2251OMIM code: 188150

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Sparse hair-short stature-skin anomalies syndrome
ORPHA code
2251
OMIM code
188150
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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