Severe Joint Laxity: Causes & Reasons

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Possible Causes for Severe Joint Laxity

Ehlers-Danlos Syndrome Arthrochalasia Type

This form of EDS is congenital, and is associated with severe muscle hypotonia, scleral fragility, placing the globe at an increased risk for rupture, and severe joint laxity [morphopedics.wikidot.com]

[…] hypotonia at birth, generalized joint laxity, progressive infantile scoliosis, scleral fragility may lead to globe rupture mutation in PLOD gene; l ysyl hydroxylase deficiency [orthobullets.com]

The patient had notable hypotonia and severe joint and extremity laxity at birth, possibly consistent with EDS-VI. [acgcasereports.gi.org]

Desbuquois Dysplasia Type 1

Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial [rarediseases.org]

Adult stature is usually 114 cm or greater.; Generalized joint laxity, which can cause joint dislocations; Radial deviation of the fingers with thumbs that are often broad [rareguru.com]

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include:[1][3][4][2][5] Intrauterine growth retardation; Short stature with shortened [rarediseases.info.nih.gov]

Ehlers-Danlos Syndrome Classic-Like Type 2

OMIM® : 57 Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant [malacards.org]

EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound [malacards.org]

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 [malacards.org]

Desbuquois Dysplasia

Adult stature is usually 114 cm or greater.; Generalized joint laxity, which can cause joint dislocations; Radial deviation of the fingers with thumbs that are often broad [rareguru.com]

Spondyloepimetaphyseal Dysplasia Type Shohat

[…] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly [orpha.net]

[…] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely [malacards.org]

Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely [orpha.net]

Chromosome 22q13.3 Deletion Syndrome

It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. [genome.jp]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

Spondylo-epi-metaphyseal Dysplasia with joint laxity ; Section VIII Severe Spondylodysplastic Dysplasias ; 51. Achondrogenesis type 1A ; 52. [amazon.de]

Spondylo-epi-metaphyseal Dysplasia with joint laxity Section VIII Severe Spondylodysplastic Dysplasias 51. Achondrogenesis type 1A 52. Schneckenbecken Dysplasia 53. [axon.es]

However, the joint laxity is not as severe as that seen in joint hypermobility syndromes such as Ehlers–Danlos syndrome, some of which may be associated with increased fracture [radiologykey.com]

Ehlers-Danlos Syndrom Classic Type 2

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

Examination of the patient’s mother revealed mild skin stretchability and moderate joint laxity. The patient’s 10-year-old brother had several scars... [mdedge.com]

Ehlers-Danlos-Syndrome Type 10

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

The patient had notable hypotonia and severe joint and extremity laxity at birth, possibly consistent with EDS-VI. [acgcasereports.gi.org]

Humeroradial Synostosis with Craniofacial Anomalies

3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified [203.71.232.25]

Spondyloepimetaphyseal dysplasia with joint laxity, type 3 MedGen UID: 1677378 •Concept ID: C5193073 • Disease or Syndrome Spondyloepimetaphyseal dysplasia with joint laxity [203.71.232.25]

laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic [203.71.232.25]

Ehlers-Danlos Syndrome Hypermobility Type

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

Ehlers-Danlos Syndrome Spondylodysplastic Type 3

Arthrochalasia Type (VIIA/B) Major Criteria • Severe joint laxity with recurrent dislocations in many joints • Congenital, bilateral hip dislocation Inheritance Autosomal [studyslide.com]

laxity; severe hypotonia at birth; delayed gross motor development; progressive scoliosis (present at birth); scleral fragility or ocular globe rupture post minor trauma [emedicine.medscape.com]

laxity • severe muscle hypotonia • Kyphoscoliosis, usually usually early onset • Scleral fragility Inheritance: Autosomal recessive Genetic cause: PLOD1 Kyphoscoliosis Types [studyslide.com]

Pseudoachondroplasia

Young boy with pseudoachondroplasia Pseudoachondroplasia is a severe type of dwarfism characterized by joint laxity and severe deformities affecting the hips, knees, and ankles [paleyinstitute.org]

PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthritis. [ncbi.nlm.nih.gov]

[…] limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. [uniprot.org]

Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

Kyphoscoliosis Type Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. [ehlersdanlos.ca]

laxity, skin fragility, and severe muscle hypotonia at birth. [me-pedia.org]

Familial Joint Laxity

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

Joint hypermobility is usually limited to the digits ... Kyphoscoliosis Type; Generalized joint laxity and severe muscle hypotonia ... [ibis-birthdefects.org]

Metaphyseal Dysplasia Type Braun-Tinschert

Spondylo-epi-metaphyseal Dysplasia with joint laxity ; Section VIII Severe Spondylodysplastic Dysplasias ; 51. Achondrogenesis type 1A ; 52. [bookdepository.com]

Spondylo-epi-metaphyseal Dysplasia with joint laxity Section VIII Severe Spondylodysplastic Dysplasias 51. Achondrogenesis type 1A 52. Schneckenbecken Dysplasia 53. [amazon.cn]

Chondrodysplasia with congenital joint dislocations, CST3 type ; 47. Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50. [bookdepository.com]

Ehlers-Danlos Syndrome Classic-Like Type 1

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

Kyphoscoliosis Type: characterized by generalised joint laxity and severe muscle hypotonia (weak muscle tone) at birth. [workplacephysio.com]

Consistent with the original description of tenascin-X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. [unboundmedicine.com]

Hypermobility Syndrome

laxity and severe muscle weakness Type VII A & B: congenital hip dislocation & severe joint laxity Type VIIC: severely fragile skin [3] Symptoms [ edit ] -Bruising -Delayed [en.wikibooks.org]

Joint Hypermobility Syndrome is an inherited collagen-related disorder with a large range of symptoms – from having some degree of joint laxity or flexibility to severe, life-impacting [backinmotion.com.au]

Concerned that joint laxity may be affecting his performance, she checks his balance and notices significant deficits. [moveforwardpt.com]

Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. S. Afr. Med. J. 64: 772-775,1983. [gait.aidi.udel.edu]

[…] short stature Pica Disproportionate short-limb short stature Kyphoscoliosis Tibial bowing Micrognathia Rare Symptoms - Less than 30% cases Joint laxity Depressed nasal ridge [mendelian.co]

[…] bow legs is the principle feature McKusick Type Inheritance: Autosomal dominant Clinical Features: Sparse, short, brittle hair and excessive joint laxity Ankle deformity [flinders.edu.au]

Cutis Laxa-Marfanoid Syndrome

joint laxity, with recurrent dislocations/subluxations -chronic joint pain and arthritis -MVP Kyphoscoliotic ehlers-danlos syndrome Type VI, AR, lysyl hydroxylase 1 (PLOD1 [quizlet.com]

Kyphoscoliosis Type Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. [ehlersdanlos.ca]

Clin Genet 5: 363–367 PubMed CrossRef Google Scholar Beighton PH, Kozlowski K (1980) Spondylo-epi-metaphyseal dysplasia with joint laxity and severe progressive kyphoscoliosis [link.springer.com]

Osteoporosis-Pseudoglioma Syndrome

Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular [ncbi.nlm.nih.gov]

The three patients demonstrated visual impairment and psychomotor retardation during infancy, as well as severe platyspondyly, bilateral cataracts, joint laxity, borderline [cags.org.ae]

severe osteoporosis, multiple fractures, short stature, kyphoscoliosis, hyperextensible joints, and wide metaphyses. [iofbonehealth.org]

Hajdu-Cheney Syndrome

laxity, bulbous finger tips and severe osteoporosis. [en.wikipedia.org]

[…] deformities, short stature, delayed acquisition of speech and motor skills, dolichocephalic skull, Wormian bone, small maxilla, hypoplastic frontal sinuses, basilar impression, joint [en.wikipedia.org]

Spondyloepimetaphyseal Dysplasia Type Irapa

Spondyloepimetaphyseal dysplasia with joint laxity and severe, progressivekyphoscoliosis. S African Med J 64:772776.Beighton P, Gericke G, Kozlowski K, Grobler L. 1984. [documents.tips]

Spondylo - epi - metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiology 1980; 5: 205–212. *11. [yumpu.com]

laxity Pectus carinatum Platyspondyly Epiphyseal dysplasia Spondyloepiphyseal dysplasia Generalized osteoporosis Intellectual disability, severe Enlarged joints Mucopolysacchariduria [mendelian.co]

Mucopolysaccharidosis Type 4

Clinical features: severe dwarfism ( joint laxity corneal opacification/clouding lymphadenopathy progressive deafness spinal kyphoscoliosis prominent mandible and lower face [radiopaedia.org]

Short stature. ligamentous laxity/joint hypermobility. Odontoid hypoplasia leading to atlantoaxial instability. Spinal cord compression leading to cervical myelopathy. [genetics4medics.com]

[…] dysplasia and laxity of joints, and corneal clouding among other signs, while intelligence remains normal. [journals.plos.org]

Acheiria, unilateral

[…] are more severely retarded and often have joint laxity and dislocation of the radial head. 2 Treatment Treatment for the hypoplastic distal phalanges and nails is rarely [the-rheumatologist.org]

This syndrome has several similarities to fetal hydantoin syndrome, including hypoplastic fingernails and toenails, especially of the fifth digits; however, Coffin-Siris patients [the-rheumatologist.org]

Ehlers-Danlos Syndrome

Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita) Patients are short in height and severely affected by joint laxity and dislocations. [medicinenet.com]

Arthrochalasia (Type VII A/B) Congenital bilateral dislocations of both hips, severe generalized joint hypermobility with recurrent subluxations, skin hyperextensibility, [morphopedics.wikidot.com]

Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency

The Ehlers-Danlos syndrome type VI (EDS VI), also called the kyphoscoliotic type [1], is characterized by severe hypotonia at birth, joint laxity, hyperextensible and fragile [bioline.org.br]

[…] abnormal type 1 collagen - most severe Presentation of Osteogenesis Imperfecta Low energy fractures Bony deformity e.g. scoliosis Joint laxity Blue sclera What is Ehler's [quizlet.com]

laxity, skin fragility, and severe muscle hypotonia at birth. [emedicine.medscape.com]

Ehlers-Danlos Syndrome Periodontitis Type 2

He had severe shin bruising but no joint pain, joint laxity or dislocations by family report. [nature.com]

Type I Severe generalized joint hypermobility with recurrent subluxations, congenital bilateral hip dislocation Dermato-sparaxis Procollagen N-peptidase Skin fragility leading [comprped.com]

These include joint laxity and dislocations, Marfanoid habitus, osteopenia, early-onset osteoarthritis, pectus deformity, scoliosis and pes planus.24 Recurrent shin bruising [nature.com]

Young-Simpson Syndrome

Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. [medical-dictionary.thefreedictionary.com]

The condition presents in infancy with severe hypotonia and feeding problems. [uniprot.org]

It presents in infancy with severe hypotonia and feeding problems. [medical-dictionary.thefreedictionary.com]

Congenital Disorder of Glycosylation Type 1H

He had age-appropriate growth parameters, generalized cutis laxa, pectus excavatum, bilateral hip dislocation, joint laxity, pes planus, severe hypotonia and large fontanel [nature.com]