Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Orpha code: 247820OMIM code: 613573

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
EDSS
EDSS1
Zespół dysplazji ektodermalnej - pili torti - syndaktylii skórnej
Kod ORPHA
247820
Kod OMIM
613573
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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