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Ectodermal dysplasia-syndactyly syndrome(EDSS)

MedGen UID:
1648397
•Concept ID:
C4749852
•
Disease or Syndrome
Synonym: EDSS
SNOMED CT: Ectodermal dysplasia syndactyly syndrome (771335004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0013311
OMIM® Phenotypic series: PS613573
Orphanet: ORPHA247820

Definition

A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctodermal dysplasia-syndactyly syndrome

Recent clinical studies

Etiology

A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R, Gruber R, Volc-Platzer B
Int J Dermatol 2018 Feb;57(2):223-226. Epub 2017 Dec 19 doi: 10.1111/ijd.13862. PMID: 29265343
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
Raza SI, Nasser Dar R, Shah AA, Ahmad W
Ann Hum Genet 2015 Mar;79(2):92-8. Epub 2014 Dec 22 doi: 10.1111/ahg.12094. PMID: 25529316
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
Brancati F, Agolini E, Fortugno P
G Ital Dermatol Venereol 2013 Feb;148(1):59-64. PMID: 23407077

Diagnosis

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom
An Bras Dermatol 2023 Sep-Oct;98(5):580-586. Epub 2023 May 12 doi: 10.1016/j.abd.2022.07.009. PMID: 37183149Free PMC Article
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123

Prognosis

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, El Hachem M
Genes (Basel) 2021 May 17;12(5) doi: 10.3390/genes12050748. PMID: 34067522Free PMC Article

Clinical prediction guides

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, El Hachem M
Genes (Basel) 2021 May 17;12(5) doi: 10.3390/genes12050748. PMID: 34067522Free PMC Article
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
Jelani M, Chishti MS, Ahmad W
J Hum Genet 2011 May;56(5):352-7. Epub 2011 Feb 24 doi: 10.1038/jhg.2011.18. PMID: 21346770

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