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.
  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

Classification


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