Синдром ектодермальної дисплазії-гіпергідрозу-шкірної синдактилії
ORPHA:247827· ICD-10 Q82.8· Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Визначення(English summary)
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal