Rapp–Hodgkin syndrome

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]

Rapp–Hodgkin syndrome
Other namesEctodermal dysplasia, anhidrotic, with cleft lip/palate[1]

It was first characterized in 1968.[3]

See also

References

  1. "Rapp–Hodgkin syndrome". The Genetic and Rare Diseases Information Center. NIH. 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.

Further reading


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