U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Curly hair - acral keratoderma - caries syndrome

MedGen UID:
335923
Concept ID:
C1843291
Disease or Syndrome
Synonym: Curly hair-acral keratoderma-caries syndrome
SNOMED CT: CHACS - curly hair, acral keratoderma, caries syndrome (763686007); Curly hair, acral keratoderma, caries syndrome (763686007)
 
Monarch Initiative: MONDO:0011883
OMIM®: 607656
Orphanet: ORPHA307766

Definition

An extremely rare ectodermal dysplasia syndrome with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCurly hair - acral keratoderma - caries syndrome
Follow this link to review classifications for Curly hair - acral keratoderma - caries syndrome in Orphanet.

Recent clinical studies

Etiology

van Steensel MA, Koedam MI, Swinkels OQ, Rietveld F, Steijlen PM
Br J Dermatol 2001 Jul;145(1):157-61. doi: 10.1046/j.1365-2133.2001.04303.x. PMID: 11453928

Diagnosis

van Steensel MA, Koedam MI, Swinkels OQ, Rietveld F, Steijlen PM
Br J Dermatol 2001 Jul;145(1):157-61. doi: 10.1046/j.1365-2133.2001.04303.x. PMID: 11453928

Clinical prediction guides

van Steensel MA, Koedam MI, Swinkels OQ, Rietveld F, Steijlen PM
Br J Dermatol 2001 Jul;145(1):157-61. doi: 10.1046/j.1365-2133.2001.04303.x. PMID: 11453928

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...