U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
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]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Congenital contracture
MedGen UID:
83066
•Concept ID:
C0332878
•
Congenital Abnormality
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
See: Feature record | Search on this feature
Oral cleft
MedGen UID:
893092
•Concept ID:
C4021813
•
Congenital Abnormality
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
See: Feature record | Search on this feature
Ectodermal dysplasia
MedGen UID:
8544
•Concept ID:
C0013575
•
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
See: Feature record | Search on this feature
Show allHide all

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

Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.
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

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
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
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome.
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
Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.
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
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E
Am J Med Genet A 2011 Nov;155A(11):2746-9. Epub 2011 Oct 11 doi: 10.1002/ajmg.a.34270. PMID: 21990121
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
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

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
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
Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.
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
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.
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
Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.
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
Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
Farrington F, Lausten L
Am J Med Genet A 2009 Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790. PMID: 19681142

Therapy

Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
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
Sweating ability of patients with p63-associated syndromes.
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
Ocular manifestations of the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
Baum JL, Bull MJ
Am J Ophthalmol 1974 Aug;78(2):211-6. doi: 10.1016/0002-9394(74)90078-6. PMID: 4847460

Prognosis

Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
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
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
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
Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.
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
TP63 gene mutations in Chinese P63 syndrome patients.
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
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
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

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
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
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
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
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
TP63 gene mutations in Chinese P63 syndrome patients.
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
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...