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Ehlers-Danlos syndrome, Beasley-Cohen type

MedGen UID:
332459
Concept ID:
C1837462
Disease or Syndrome
Synonym: Ehlers-Danlos syndrome with mental retardation, deafness, and cataract
 
Monarch Initiative: MONDO:0012114
OMIM®: 608763

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Joint laxity
MedGen UID:
39439
Concept ID:
C0086437
Finding
Lack of stability of a joint.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Excessive skin wrinkling on dorsum of hands and fingers
MedGen UID:
324804
Concept ID:
C1837467
Finding
Bilateral microphthalmos
MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
Cigarette-paper scars
MedGen UID:
342099
Concept ID:
C1851828
Finding
Thin (atrophic) and wide scars.
Narrow palpebral fissure
MedGen UID:
382506
Concept ID:
C2675021
Finding
Reduction in the vertical distance between the upper and lower eyelids.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Professional guidelines

PubMed

Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167. doi: 10.1002/ajmg.c.31545. PMID: 28306230
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. PMID: 28306228

Recent clinical studies

Etiology

Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH
Nat Rev Dis Primers 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH
Nat Rev Dis Primers 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):48-69. Epub 2017 Feb 1 doi: 10.1002/ajmg.c.31538. PMID: 28145611
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Therapy

Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
O'Shea KM, Aceves SS, Dellon ES, Gupta SK, Spergel JM, Furuta GT, Rothenberg ME
Gastroenterology 2018 Jan;154(2):333-345. Epub 2017 Jul 27 doi: 10.1053/j.gastro.2017.06.065. PMID: 28757265Free PMC Article
Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167. doi: 10.1002/ajmg.c.31545. PMID: 28306230
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Monaco A, Choi D, Uzun S, Maitland A, Riley B
Immunol Res 2022 Aug;70(4):419-431. Epub 2022 Apr 21 doi: 10.1007/s12026-022-09280-1. PMID: 35449490Free PMC Article
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994
Pepin M, Schwarze U, Superti-Furga A, Byers PH
N Engl J Med 2000 Mar 9;342(10):673-80. doi: 10.1056/NEJM200003093421001. PMID: 10706896

Clinical prediction guides

Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Celletti C, Paolucci T, Maggi L, Volpi G, Billi M, Mollica R, Camerota F
Biomed Res Int 2021;2021:6664864. Epub 2021 Jun 1 doi: 10.1155/2021/6664864. PMID: 34124258Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Recent systematic reviews

Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
El Masri H, Loong TH, Meurette G, Podevin J, Zinzindohoue F, Lehur PA
Tech Coloproctol 2018 May;22(5):333-341. Epub 2018 Apr 26 doi: 10.1007/s10151-018-1783-4. PMID: 29700641

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