Thumb deformity-alopecia-pigmentation anomaly syndrome

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Synonyms: Sparse hair-short stature-skin anomalies 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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