Rapp–Hodgkin syndrome

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Rapp–Hodgkin syndrome
Other names: Ectodermal dysplasia, anhidrotic, with cleft lip/palate[1]
Rapp–Hodgkin Syndrome: frontal bossing, short philtrum, thin upper lip, mildly dysmorphic auricles and prognathism

Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome.[2]

It was first characterized in 1968.[3]

See also


  1. "Rapp–Hodgkin syndrome". The Genetic and Rare Diseases Information Center. NIH. Archived from the original on 24 January 2017. Retrieved 19 March 2019.
  2. Clements SE, Techanukul T, Holden ST, et al. (September 2010). "Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder". Br. J. Dermatol. 163 (3): 624–9. doi:10.1111/j.1365-2133.2010.09859.x. PMID 20491771. S2CID 44866051.
  3. Rapp RS, Hodgkin WE (December 1968). "Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies". J. Med. Genet. 5 (4): 269–72. doi:10.1136/jmg.5.4.269. PMC 1468665. PMID 5713637.

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