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Синдром ектодермальної дисплазії-pili torti-шкірної синдактилії

ORPHA:247820· ICD-10 Q82.8· Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Визначення(English summary)

Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal