Thumb deformity-alopecia-pigmentation anomaly syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Thumb deformity-alopecia-pigmentation anomaly syndrome?
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National Foundation for Ectodermal Dysplasias
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