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Ehlers-Danlos syndrome, musculocontractural type 1

MedGen UID:
976414
Concept ID:
CN295219
Disease or Syndrome
Synonyms: adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome; adducted thumb-clubfoot syndrome; Arthrogryposis, Distal, with peculiar facies and hydronephrosis; Dundar syndrome; EDSMC; EDSMC1; Ehlers-Danlos syndrome, musculocontractural type, 1; Ehlers-Danlos syndrome, type Vib; Ehlers-Danlos syndrome, type Vib, formerly
 
Gene (location): CHST14 (15q15.1)
 
Monarch Initiative: MONDO:0020681
OMIM®: 601776

Definition

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998). The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by Malfait et al., 2010). Janecke et al. (2015) reviewed the clinical findings in 34 reported EDSMC patients, 31 with CHST14 mutations and 3 with DSE (605942) mutations (see 615539), and stated that the disorder can be recognized based on the presence of distal arthrogryposis, including adducted thumbs or clenched fists and talipes equinovarus, as well as hands with atypically shallow palmar creases and tapering fingers, and neonatal muscular hypotonia. Characteristic craniofacial features include brachycephaly, large fontanel, hypertelorism, downslanting palpebral fissures, microcorneae, strabismus, prominent nasolabial folds, short philtrum, thin upper lip, small mouth, high palate, microretrognathia, and prominent and often low-set and posteriorly rotated ears. In addition, EDSMC patients show muscular hypoplasia and weakness, which has been confirmed by ultrasound and electromyography, and intellectual development appears to be normal. Genetic Heterogeneity of Musculocontractural Ehlers-Danlos Syndrome Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2; 615539) is caused by mutation in the DSE gene (605942) on chromosome 6q22. [from OMIM]

Recent clinical studies

Etiology

Umapathy N, Thirugnana Sambanda Moorthy B, Azhagar Nambi Santhi V, Nair LDV
BMJ Case Rep 2024 Jun 4;17(6) doi: 10.1136/bcr-2023-259350. PMID: 38834308
Stephenson KJ, Shewmake CN, Bowman SM, Kalkwarf KJ, Wyrick DL, Dassinger MS, Maxson RT
Am J Surg 2022 Dec;224(6):1445-1449. Epub 2022 Aug 29 doi: 10.1016/j.amjsurg.2022.08.017. PMID: 36058750

Diagnosis

Umapathy N, Thirugnana Sambanda Moorthy B, Azhagar Nambi Santhi V, Nair LDV
BMJ Case Rep 2024 Jun 4;17(6) doi: 10.1136/bcr-2023-259350. PMID: 38834308
Sandal S, Kaur A, Panigrahi I
BMJ Case Rep 2018 Sep 23;2018 doi: 10.1136/bcr-2018-226165. PMID: 30249733Free PMC Article
Kosho T
Pediatr Int 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. PMID: 26646600

Therapy

Faber ML, Oldham RAA, Thakur A, Rademacher MJ, Kubicka E, Dlugi TA, Gifford SA, McKillop WM, Schloemer NJ, Lum LG, Medin JA
Front Immunol 2023;14:1225610. Epub 2023 Aug 14 doi: 10.3389/fimmu.2023.1225610. PMID: 37646042Free PMC Article

Prognosis

Umapathy N, Thirugnana Sambanda Moorthy B, Azhagar Nambi Santhi V, Nair LDV
BMJ Case Rep 2024 Jun 4;17(6) doi: 10.1136/bcr-2023-259350. PMID: 38834308

Clinical prediction guides

Ho JPY, Park SY, Nam HS, Cho JH, Lee YS
Knee 2023 Dec;45:35-45. Epub 2023 Sep 27 doi: 10.1016/j.knee.2023.09.003. PMID: 37774563
Stephenson KJ, Shewmake CN, Bowman SM, Kalkwarf KJ, Wyrick DL, Dassinger MS, Maxson RT
Am J Surg 2022 Dec;224(6):1445-1449. Epub 2022 Aug 29 doi: 10.1016/j.amjsurg.2022.08.017. PMID: 36058750
Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J
World Neurosurg 2020 Nov;143:454-461. Epub 2020 Aug 19 doi: 10.1016/j.wneu.2020.08.085. PMID: 32822956

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