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Curly hair - acral keratoderma - caries syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0011883:  Curly hair - acral keratoderma - caries syndrome
GARD:0010163: 
MESH:C536220: 
Orphanet:307766: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found