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Curly hair, ankyloblepharon, nail dysplasia syndrome(CHANDS)

MedGen UID:
98035
•Concept ID:
C0406733
•
Disease or Syndrome
Synonyms: Baughman syndrome; CHAND syndrome; CHANDS
SNOMED CT: CHANDS - Curly hair, ankyloblepharon, nail dysplasia syndrome (239037001); Curly hair, ankyloblepharon, nail dysplasia syndrome (239037001)
 
Gene (location): RIPK4 (21q22.3)
 
Monarch Initiative: MONDO:0008959
OMIM®: 214350
Orphanet: ORPHA1401

Definition

CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). [from OMIM]

Clinical features

From HPO
Ankyloblepharon
MedGen UID:
83282
•Concept ID:
C0339182
•
Anatomical Abnormality
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
See: Feature record | Search on this feature
Commissural lip pits
MedGen UID:
98001
•Concept ID:
C0399605
•
Finding
A depression located at an oral commissure.
See: Feature record | Search on this feature
Curly hair
MedGen UID:
488919
•Concept ID:
C0558165
•
Finding
See: Feature record | Search on this feature
Nail dysplasia
MedGen UID:
331737
•Concept ID:
C1834405
•
Congenital Abnormality
The presence of developmental dysplasia of the nail.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCurly hair, ankyloblepharon, nail dysplasia syndrome

Recent clinical studies

Diagnosis

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Busa T, Jeraiby M, Clémenson A, Manouvrier S, Granados V, Philip N, Touraine R
Am J Med Genet A 2017 Nov;173(11):3114-3117. Epub 2017 Sep 21 doi: 10.1002/ajmg.a.38475. PMID: 28940926
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC
Am J Med Genet A 2015 Nov;167A(11):2555-62. Epub 2015 Jun 30 doi: 10.1002/ajmg.a.37233. PMID: 26129644

Clinical prediction guides

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC
Am J Med Genet A 2015 Nov;167A(11):2555-62. Epub 2015 Jun 30 doi: 10.1002/ajmg.a.37233. PMID: 26129644

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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