| Description |
Ectodermal dysplasia/short stature syndrome (ECTDS) is a rare autosomal recessive ectodermal dysplasia syndrome. The clinical features comprise short stature, nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, and dysphagia. In addition, some patients have sensorineural deafness or bronchial asthma. It has been reported that mutations in GRHL2 cause this syndrome. GRHL2 encodes Grainyhead-like 2, a member of a highly conserved family of transcription factors that play essential roles during epithelial development.
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| Authors |
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA |
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