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Contractures-ectodermal dysplasia-cleft lip/palate syndrome

MedGen UID:
375546
Concept ID:
C1844935
Disease or Syndrome
Synonyms: Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay; Contractures ectodermal dysplasia cleft lip palate
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).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010531
OMIM®: 301815
Orphanet: ORPHA1484

Definition

A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVContractures-ectodermal dysplasia-cleft lip/palate syndrome
Follow this link to review classifications for Contractures-ectodermal dysplasia-cleft lip/palate syndrome in Orphanet.

Professional guidelines

PubMed

Grauhan LD, Gericke A, Brueggemann FB, Pfeiffer N, Wasielica-Poslednik J
Cornea 2023 Sep 1;42(9):1172-1175. Epub 2023 Jun 21 doi: 10.1097/ICO.0000000000003295. PMID: 37351863

Recent clinical studies

Etiology

Török G, Saláta J, Ábrám E, Nemes B, Hermann P, Rózsa N, Kispélyi B
Spec Care Dentist 2024 Jan-Feb;44(1):96-102. Epub 2023 Jan 18 doi: 10.1111/scd.12826. PMID: 36653185
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Lourencone LFM, Koga FDT, Oliveira EB, Jorge JC, de Brito R
Otol Neurotol 2018 Sep;39(8):e679-e682. doi: 10.1097/MAO.0000000000001921. PMID: 30113563
Felipe AF, Abazari A, Hammersmith KM, Rapuano CJ, Nagra PK, Peiro BM
Int Ophthalmol 2012 Oct;32(5):475-80. Epub 2012 May 23 doi: 10.1007/s10792-012-9585-6. PMID: 22618129
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA
Am J Med Genet A 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791. PMID: 19676059

Diagnosis

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Grauhan LD, Gericke A, Brueggemann FB, Pfeiffer N, Wasielica-Poslednik J
Cornea 2023 Sep 1;42(9):1172-1175. Epub 2023 Jun 21 doi: 10.1097/ICO.0000000000003295. PMID: 37351863
Dhar RS, Bora A
J Indian Soc Pedod Prev Dent 2014 Oct-Dec;32(4):346-9. doi: 10.4103/0970-4388.140972. PMID: 25231046
Felipe AF, Abazari A, Hammersmith KM, Rapuano CJ, Nagra PK, Peiro BM
Int Ophthalmol 2012 Oct;32(5):475-80. Epub 2012 May 23 doi: 10.1007/s10792-012-9585-6. PMID: 22618129
Farrington F, Lausten L
Am J Med Genet A 2009 Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790. PMID: 19681142

Therapy

Hammoudeh JA, Goel P, Wolfswinkel EM, Fahradyan A, Vartanian E, Garg R, Williams MS, Khansa I, Urata MM
Plast Reconstr Surg 2020 Jun;145(6):1067e-1072e. doi: 10.1097/PRS.0000000000006816. PMID: 32459778
Ferstl P, Wohlfart S, Schneider H
Eur J Pediatr 2018 Nov;177(11):1727-1731. Epub 2018 Aug 7 doi: 10.1007/s00431-018-3227-6. PMID: 30088137
Baum JL, Bull MJ
Am J Ophthalmol 1974 Aug;78(2):211-6. doi: 10.1016/0002-9394(74)90078-6. PMID: 4847460

Prognosis

Török G, Saláta J, Ábrám E, Nemes B, Hermann P, Rózsa N, Kispélyi B
Spec Care Dentist 2024 Jan-Feb;44(1):96-102. Epub 2023 Jan 18 doi: 10.1111/scd.12826. PMID: 36653185
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Kennedy DP, Chandler JW, McCulley JP
Cont Lens Anterior Eye 2015 Jun;38(3):228-31. Epub 2015 Mar 11 doi: 10.1016/j.clae.2015.02.002. PMID: 25769661
Yin W, Ye X, Shi L, Wang QK, Jin H, Wang P, Bian Z
J Dent Res 2010 Aug;89(8):813-7. Epub 2010 Apr 21 doi: 10.1177/0022034510366804. PMID: 20410354
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H
Hum Mol Genet 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. PMID: 11159940

Clinical prediction guides

Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI
Medicine (Baltimore) 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. PMID: 33126320Free PMC Article
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Yin W, Ye X, Shi L, Wang QK, Jin H, Wang P, Bian Z
J Dent Res 2010 Aug;89(8):813-7. Epub 2010 Apr 21 doi: 10.1177/0022034510366804. PMID: 20410354
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H
Hum Mol Genet 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. PMID: 11159940

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