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Lelis syndrome

MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonym: Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans
SNOMED CT: Lelis syndrome (719429003); Ectodermal dysplasia with acanthosis nigricans syndrome (719429003)
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:0012008
OMIM®: 608290
Orphanet: ORPHA140936


The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLelis syndrome
Follow this link to review classifications for Lelis syndrome in Orphanet.

Recent clinical studies


Steiner CE, Cintra ML, Marques-de-Faria AP
Am J Med Genet 2002 Dec 15;113(4):381-4. doi: 10.1002/ajmg.b.10787. PMID: 12457412

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