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Blepharocheilodontic syndrome(BCDS)

MedGen UID:
349302
•Concept ID:
C1861536
•
Disease or Syndrome
Synonyms: BCD syndrome; Blepharo-cheilo-dontic syndrome; Clefting, ectropion, and conical teeth; Ectropion inferior cleft lip and or palate; ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE; Elschnig syndrome; Lagophthalmia with bilateral cleft lip and palate
SNOMED CT: Blepharocheilodontic syndrome (717911008); Blepharo-cheilo-odontic syndrome (717911008); Clefting, ectropion, conical teeth syndrome (717911008); Elsching syndrome (717911008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007339
OMIM®: 119580
OMIM® Phenotypic series: PS119580
Orphanet: ORPHA1997

Definition

An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance. [from SNOMEDCT_US]

Term Hierarchy

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

Recent clinical studies

Etiology

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
LeBlanc S, Naveen D, Haan E, Barnett C, Rawlings L, Roscioli T, Poplawski N
Am J Med Genet A 2020 Jul;182(7):1780-1784. Epub 2020 Apr 17 doi: 10.1002/ajmg.a.61601. PMID: 32302040
Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.
Awadh W, Kiukkonen A, Nieminen P, Arte S, Hurmerinta K, Rice DP
Am J Med Genet A 2017 Apr;173(4):905-913. Epub 2017 Feb 9 doi: 10.1002/ajmg.a.38088. PMID: 28181393

Diagnosis

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
LeBlanc S, Naveen D, Haan E, Barnett C, Rawlings L, Roscioli T, Poplawski N
Am J Med Genet A 2020 Jul;182(7):1780-1784. Epub 2020 Apr 17 doi: 10.1002/ajmg.a.61601. PMID: 32302040
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S
Genet Med 2017 Sep;19(9):1013-1021. Epub 2017 Mar 16 doi: 10.1038/gim.2017.11. PMID: 28301459
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
Weaver KN, Rutledge KD, Grant JH, Robin NH
Am J Med Genet A 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207. PMID: 20101698
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.
Winship I, Aftimos S
Clin Dysmorphol 2005 Jul;14(3):151-153. PMID: 15930907

Therapy

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.
Awadh W, Kiukkonen A, Nieminen P, Arte S, Hurmerinta K, Rice DP
Am J Med Genet A 2017 Apr;173(4):905-913. Epub 2017 Feb 9 doi: 10.1002/ajmg.a.38088. PMID: 28181393

Supplemental Content

Table of contents

    Clinical resources

    Reviews

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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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