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