E

 

ECTD11B sendromu (Ectodermal dysplasia 11B; hypohydrotic tip)

Kalıtsal - AR

Alın, yanak ve çene derisi hiperpigmentasyonu

Periorbital kırışıklık

Periorbital hiperpigmentasyon

Kaşlar ve kirpikler seyrek

Burun sırtında düzleşme

Yineleyen burun kanamaları

Atrofik rinit

Ağız kuruluğu

Hipodonti

Konik dişler

Kürek biçiminde dişler

Memeler hipoplazik

 

  • Munoz F, Lestringant G, Sybert V, et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. American Journal of Human Genetics, 61: 94-100, 1997

  • Cluzeau C, Hadj-Rabia S, Jambou M, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32: 70-77, 2011

  • Chaudhary AK, Girisha KM, Bashyam MD. A novel EDARADD 5-prime-splice site mutation resulting in activation of two alternate cryptic 5-prime-splice sites causes autosomal recessive hypohidrotic ectodermal dysplasia. (Letter) American Journal of Medical Genetics, 170A: 1639-1641, 2016