Sparse hair-short stature-skin anomalies syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000951 Abnormality of the skin Very frequent (99-80%)
HP:0000953 Hyperpigmentation of the skin Very frequent (99-80%)
HP:0001025 Urticaria Very frequent (99-80%)
HP:0002209 Sparse scalp hair Very frequent (99-80%)
HP:0003502 Mild short stature Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Frequent (79-30%)
HP:0006315 Single median maxillary incisor Frequent (79-30%)
HP:0009778 Short thumb Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID