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Generalized joint hypermobility

MedGen UID:
322888
Concept ID:
C1836308
Finding
Synonym: Generalized joint laxity
 
HPO: HP:0002761

Definition

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Generalized joint hypermobility

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
Ehlers-Danlos syndrome, classic type, 2
MedGen UID:
120628
Concept ID:
C0268336
Disease or Syndrome
Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). 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 of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.
CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).
Multiple epiphyseal dysplasia type 1
MedGen UID:
325376
Concept ID:
C1838280
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Ehlers-Danlos syndrome, musculocontractural type
MedGen UID:
356497
Concept ID:
C1866294
Disease or Syndrome
Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Familial hypertryptophanemia
MedGen UID:
419177
Concept ID:
C2931837
Disease or Syndrome
Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017).
Osteogenesis imperfecta type 10
MedGen UID:
462561
Concept ID:
C3151211
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).
Ehlers-Danlos syndrome, periodontal type 1
MedGen UID:
1642148
Concept ID:
C4551499
Disease or Syndrome
Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).

Professional guidelines

PubMed

Warwick D, Fetouh S
Hand Clin 2022 May;38(2):261-268. doi: 10.1016/j.hcl.2021.11.005. PMID: 35465943
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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

Recent clinical studies

Etiology

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
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Castori M, Colombi M
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Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
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
Tinkle BT
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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
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Therapy

Arshad Z, Marway P, Shoman H, Ubong S, Hussain A, Khanduja V
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Pacey V, Nicholson LL, Adams RD, Munn J, Munns CF
Am J Sports Med 2010 Jul;38(7):1487-97. doi: 10.1177/0363546510364838. PMID: 20601606

Prognosis

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van Die-de Vries J, Verbunt J, Ramaekers S, Calders P, Engelbert R
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Hiemstra LA, Kerslake S, Kupfer N, Lafave MR
Knee Surg Sports Traumatol Arthrosc 2019 Nov;27(11):3660-3667. Epub 2019 Mar 27 doi: 10.1007/s00167-019-05489-0. PMID: 30919002

Clinical prediction guides

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Tsai CC, Chih YC, Shih CL, Chen SJ, Shen PC, Tien YC
Medicine (Baltimore) 2022 Aug 5;101(31):e29608. doi: 10.1097/MD.0000000000029608. PMID: 35945775Free PMC Article
Reuter PR
Phys Ther Sport 2021 May;49:123-128. Epub 2021 Feb 24 doi: 10.1016/j.ptsp.2021.02.009. PMID: 33676202
Zhong G, Zeng X, Xie Y, Lai J, Wu J, Xu H, Lin C, Li H, Cui C, Ma L, Li L, Huang W, Zhang Y
Gait Posture 2021 Feb;84:254-259. Epub 2020 Dec 14 doi: 10.1016/j.gaitpost.2020.12.002. PMID: 33383536
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

Arshad Z, Marway P, Shoman H, Ubong S, Hussain A, Khanduja V
Arthroscopy 2024 May;40(5):1658-1669. Epub 2023 Nov 11 doi: 10.1016/j.arthro.2023.10.047. PMID: 37952744
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
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
Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RH
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):116-147. doi: 10.1002/ajmg.c.31540. PMID: 28306223
Pacey V, Nicholson LL, Adams RD, Munn J, Munns CF
Am J Sports Med 2010 Jul;38(7):1487-97. doi: 10.1177/0363546510364838. PMID: 20601606

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