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Ehlers-Danlos syndrome, classic type(cEDS)

MedGen UID:
909864
Concept ID:
C4225429
Disease or Syndrome
Synonym: cEDS
SNOMED CT: Ehlers-Danlos syndrome classic type (715318006); Ehlers-Danlos syndrome classical type (715318006); Classical Ehlers-Danlos syndrome (715318006)
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.
 
Related genes: COL5A2, COL5A1
 
Monarch Initiative: MONDO:0007522
OMIM®: 120150
Orphanet: ORPHA287

Disease characteristics

Excerpted from the GeneReview: Classic Ehlers-Danlos Syndrome
Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and snaps back after release. The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching, thinning, and pigmentation of scars is characteristic, leading to the presence of atrophic and/or hemosiderotic scars. Easy bruising is also a hallmark of cEDS. GJH is present in most but not all affected individuals, evidenced by the presence of a Beighton score of five or greater, either on examination or historically. Joint instability complications may comprise sprains and dislocations/subluxations. Mild muscle hypotonia with delayed motor development, fatigue and muscle cramps, and some skeletal morphologic alterations (scoliosis, pectus deformities, genus/hallux valgus, pes planus) are regularly observed. While aortic root dilatation and mitral valve prolapse are seen in cEDS, they are rarely clinically significant. Arterial aneurysm and rupture have been reported in a few individuals with cEDS. [from GeneReviews]
Authors:
Fransiska Malfait  |  Sofie Symoens  |  Delfien Syx   view full author information

Professional guidelines

PubMed

Joseph AW, Joseph SS, Francomano CA, Kontis TC
JAMA Facial Plast Surg 2018 Jan 1;20(1):70-75. doi: 10.1001/jamafacial.2017.0793. PMID: 29121166
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Whitelaw SE
Dermatol Nurs 2004 Oct;16(5):433-6, 449. PMID: 15624708

Curated

Mayer K, Kennerknecht I, Steinmann B
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Feb 10 doi: 10.1038/ejhg.2009.227. PMID: 20145674Free PMC Article

Recent clinical studies

Etiology

Cho SY
Prim Dent Care 2011 Oct;18(4):167-70. doi: 10.1308/135576111797512793. PMID: 21968044
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Sauer M, Borger MA, Seeburger J, Mohr FW
Ann Thorac Surg 2010 Jan;89(1):273-5. doi: 10.1016/j.athoracsur.2009.06.033. PMID: 20103253
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555
Hermanns-Lê T, Piérard GE
Am J Dermatopathol 2001 Oct;23(5):427-30. doi: 10.1097/00000372-200110000-00007. PMID: 11801775

Diagnosis

Morais P, Ferreira O, Magina S, Silva C, Leão M, Maia A, Azevedo F
Acta Dermatovenerol Croat 2013;21(2):118-22. PMID: 24001420
Whitaker JK, Alexander P, Chau DY, Tint NL
BMC Ophthalmol 2012 Sep 3;12:47. doi: 10.1186/1471-2415-12-47. PMID: 22943506Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Hermanns-Lê T, Piérard GE
Am J Dermatopathol 2001 Oct;23(5):427-30. doi: 10.1097/00000372-200110000-00007. PMID: 11801775

Therapy

Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Sauer M, Borger MA, Seeburger J, Mohr FW
Ann Thorac Surg 2010 Jan;89(1):273-5. doi: 10.1016/j.athoracsur.2009.06.033. PMID: 20103253

Clinical prediction guides

Whitaker JK, Alexander P, Chau DY, Tint NL
BMC Ophthalmol 2012 Sep 3;12:47. doi: 10.1186/1471-2415-12-47. PMID: 22943506Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

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