Curly hair-acral keratoderma-caries syndrome

Orpha code: 307766OMIM code: 607656

Definicja

Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.

Disease data
Klasyfikacja

Disease

Synonimy
CHAC syndrome
CHACS
Zespół CHAC
CHACS
Kod ORPHA
307766
Kod OMIM
607656
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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