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sparse hair-short stature-skin anomalies syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.
Mondo Term and Equivalent IDs
MONDO:0019206:  sparse hair-short stature-skin anomalies syndrome
Orphanet:79132: 
UMLS:CN205797: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found