Curly hair-acral keratoderma-caries syndrome

Orpha code: 307766OMIM code: 607656

Definition

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
Classification

Disease

Synonyms
CHAC syndrome
CHACS
Zespół CHAC
CHACS
ORPHA code
307766
OMIM code
607656
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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