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Hidrotic ectodermal dysplasia, Halal type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Halal Setton Wang syndrome
SNOMED CT: Hidrotic ectodermal dysplasia Halal type (721147000); Ectodermal dysplasia with skin anomaly and intellectual disability (721147000); Halal Setton Wang syndrome (721147000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0015883
Orphanet: ORPHA1809


A form of ectodermal dysplasia syndrome with characteristics of trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHidrotic ectodermal dysplasia, Halal type

Recent clinical studies


Halal F, Setton N, Wang NS
Am J Med Genet 1991 Mar 15;38(4):552-6. doi: 10.1002/ajmg.1320380411. PMID: 2063897

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