Hyperextensible Joints: Causes & Reasons

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Possible Causes for Hyperextensible Joints

SHORT Syndrome

The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short stature, Hyperextensible joints, Ocular depression, Rieger [ncbi.nlm.nih.gov]

Hyperextensibility of joints and/or hernias - Present only in a minority of individuals (around 35%). [symptoma.com]

This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly [ncbi.nlm.nih.gov]

Hyper-IgE Syndrome

Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. [ncbi.nlm.nih.gov]

Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years [scienceopen.com]

Our patient had hyperextensible joints including talipes cavus. [idoj.in]

Ehlers-Danlos Syndrome

joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. [ncbi.nlm.nih.gov]

Ehlers-Danlos syndrome (EDS) is a rare hereditary disorder that results in skin hyperextensibility, joint hypermobility, and tissue fragility. [medcomic.com]

[…] and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis. [ednf.org]

Ehlers-Danlos Syndrome Classic-Like Type 1

Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org]

Skin laxity, joint hyperextensibility, and bruisability are variable. [emedicine.medscape.com]

[…] skin, hypermobile joints and tissue fragility. [medical-dictionary.thefreedictionary.com]

Pseudoachondroplasia

Shortened Limbs Short stubby fingers Waddling walk Joint pain (with age) Large range of joint movement (hyperextensibility) in hands, knees and ankles Limited range of motion [littlepeopleuk.org]

an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. [lilliputiae.com]

“Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis [lilliputiae.com]

3M Syndrome Type 1

Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of [ijponline.biomedcentral.com]

of the joints. [healthetreatment.com]

From the age of 7–8 years triangular-shaped face, frontal bossing, transverse chest groove, winged scapulae and hyperextensible joints became very evident (Figures 1 a and [ijponline.biomedcentral.com]

Stickler Syndrome Type 2

joints * Clubfeet * Prominent large joints * Severe joint disease * Joint pain * Partial dislocation of hip * Spondyloepiphyseal dysplasia * Flat vertebrae * Underdevelopment [checkorphan.org]

joints and arthritis ... [ibis-birthdefects.org]

[…] and fragility, joint hypermobility, and abnormal wound healing. [chginc.org]

Coffin-Lowry Syndrome

joints, muscle atrophy, large and soft hands with simian crease, and tapering of the fingers. [accessanesthesiology.mhmedical.com]

Males present with moderate to severe developmental delay, coarse facies, large soft hands with short tapering fingers, hypotonia, joint hyperextensibility and skeletal changes [ggc.org]

[…] musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age, ligamental calcifications, hyperextensible [accessanesthesiology.mhmedical.com]

Osteoporosis-Pseudoglioma Syndrome

[…] with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible [anvita.info]

joints, and wide metaphyses. [iofbonehealth.org]

joints microcephaly normal intelligence most cases, some mild mental retardation More General Terms genetic disease of bone/skeletal system genetic disease of the eye Additional [anvita.info]

Rubinstein-Taybi Syndrome

joints • Small tilted pelvis • Excessive hairiness • Undescended testicles • Feeding difficulties • Respiratory infection • Cardiac anomalies • Vertebral abnormalities • [aapos.org]

joints Small tilted pelvis Excessive hairiness Undescended testicles Feeding difficulties Respiratory infection Cardiac anomalies Vertebral abnormalities Gastroesophageal [aapos.org]

[…] bridge • Malformed ears • High arched palate • Extra fold of skin on either side of the nose • Small head (microcephaly) • Small lower jaw • Flat red birthmark on forehead • Hyperextensible [aapos.org]

Mirhosseini-Holmes-Walton Syndrome

Clinical: Microcephaly; severe mental retardation; hyperextensible joints; scoliosis; arachnodactyly; hypogonadism. McKusick VA. [esanatos.com]

joints Head And Neck Teeth: prominent incisors Head And Neck Eyes: myopia decreased visual acuity retinal pigmentary degeneration Growth Weight: truncal obesity Growth Height [malacards.org]

joints, scoliosis, and arachnodactyly. [omim.org]

Marfan Syndrome

Potentially important abnormalities include hyperextensible joints (possible positioning implications), high arched palate (airway implications), pectus excavatum, and kyphoscoliosis [openanesthesia.org]

Joint hyperextensibility is present in some, but not all, patients with Marfan syndrome. [dermaamin.com]

Sternum deformity—pectus carinatum (outward displacement) or pectus excavatum (inward displacement)—is common, as are joint hyperextensibility (but usually small flexion contractures [merckmanuals.com]

De Barsey-Moens-Dierckx Syndrome

joints, increased tendon reflexes and growth retardation already beginning in the womb combined with reduced mental development. [de.zxc.wiki]

Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular [jamanetwork.com]

Ligamentous laxity; Osteochondritis dissecans; Proximal finger joint hyperextensibility; Flexed distal finger joints; Genu recurvatum; Flat feet Skin: Stretchable skin Spine [findzebra.com]

Cartilage Hair Hypoplasia

Short limb dwarfism very fine thin light hairs and eyebrows hyperextensible joints of hand and feet abnormalities of spine neutropenia defective antibody and cell mediated [en.wikipedia.org]

Autosomal Recessive Cutis Laxa Type 2A

Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. [mdpi.com]

Mucopolysaccharidosis Type 4A

[…] atlantoaxial joint, requiring limited hyperextension of the neck all of which may complicate laryngoscopy and intubation [ 3 ]. [omicsonline.org]

It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive [icd10data.com]

Patients present with severe airway obstructions, cranio-facial abnormalities, short neck, stiffening of the temporomandibular joints, anteriorly positioned larynx, unstable [omicsonline.org]

Mucopolysaccharidosis

It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive [icd9data.com]

[…] of neck hyperextension [32]. [hindawi.com]

Careful positioning and avoidance of hyperextension of the neck are necessary. [medicalhomeportal.org]

Trisomy 21

hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart defects Complications of Down syndrome can involve [emedicine.com]

[…] extremities Short, broad hands, with short fifth finger with hypoplasia of the middle phalanx and clinodactyly, along with single transverse palmar creases (~60% of patients) Joint [emedicine.com]

Langer-Giedion Syndrome

joints. [rarediseases.org]

In addition, affected individuals may exhibit unusually flexible (hyperextensible) joints, diminished muscle tone (hypotonia), excess folds of skin (redundant skin), and/or [rarediseases.org]

[…] abnormalities including excess (redundant) skin, numerous discolored elevated spots on the skin (maculopapular nevi), diminished muscle tone (hypotonia), and/or abnormally flexible (hyperextensible [rarediseases.org]

Vesicoureteral Reflux 8

TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility. [david.ncifcrf.gov]

疾病相关 Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility [abcam.cn]

Involvement in disease Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and [abcam.com]

Osteogenesis Imperfecta Type 15

Additional symptoms associated with OI type I include loose (hyperextensible) joints, low muscle tone (hypotonia), and thin skin that bruises easily. [rarediseases.org]

Hyperextensibility" [1] Associated Co-morbidities Joint hypermobility Hearing impairment/Loss Excessive diaphoresis Cardiovascular complications Scoliosis Pectus deformity [physio-pedia.com]

(hyperextensible) Blue sclera Triangular face Spinal curvature Teeth possibly brittle (dentinogenesis imperfecta) Hearing loss in 20s or 30s Type II Most severe form Usually [en.wikibooks.org]

Hallermann-Streiff Syndrome

[…] of the joints. [healio.com]

[…] straightjacket and her countenance is dull. (6) Other abnormalities often found, but which cannot be determined to exist from this painting, include dwarfism, sexual immaturity, and hyperextensibility [healio.com]

Ehlers-Danlos Syndrome Type 4

Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org]

They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal) [ehlers-danlos.com]

Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. [icd10data.com]

Aarskog-Scott Syndrome

Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes [ncbi.nlm.nih.gov]

Other findings include cryptorchidism, proximal finger-joint hyperextensibility, flexed distal finger joints, stretchable skin, shawl and/or saddle-bag scrotum, widow’s peak [medical-dictionary.thefreedictionary.com]

Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility [ncbi.nlm.nih.gov]

Hypochondroplasia

Hypochondroplasia is a clinical entity characterized by a short stature and a range of skeletal malformations, occurring due to mutations in the fibroblast growth factor 3 gene, one of the key negative regulators of bone growth and development. A clinical suspicion must exist when typical signs and symptoms are[…] [symptoma.com]

Ehlers-Danlos Syndrom Classic Type 2

Abstract The type II (mitis) variant of Ehlers-Danlos syndrome (EDS) is an autosomal dominant disorder characterized by mild skin hyperextensibility, mild joint hypermobility [mdedge.com]

[…] skin, abnormal scarring, easy bruising, hyperextensible joints and generalized periodontitis Resembles type I, but is distinguished by early loss of teeth and characteristic [en.wikibooks.org]

Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org]

Ehlers-Danlos-Syndrome Type 10

Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org]

The primary characteristics are hyperextensible skin and joints, easy bruising, reduced wound healing, pseudotumours, and ocular defects. [dermis.net]

Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. [icd10data.com]

Ehlers-Danlos Syndrome Hypermobility Type

Individuals with Hypermobile EDS classically present with hyperextensible joints and skin. [3pointproducts.com]

Individuals of hypermobility joint syndrome often present with hyperextensible joints, chronic back pain, joint pain, among other phenotypic changes. [acrabstracts.org]

Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org]

Adult Krabbe Disease

joints, Beals syndrome, congenital contractural arachnodactyly, other) Cooley anemia (thalassemia major, beta-thalassemia) Conjoined twins Cornelia de Lange syndrome Costello [kumc.edu]

Congenital heart defects Connective tissue conditions (Marfan syndrome, pseudoxanthoma elasticum (PXE),cutis laxa, dwarfism, skeletal dysplasia, Ehlers Danlos syndrome, hyperextensible [kumc.edu]

Brittle Cornea Syndrome Type 1

Name Brittle Cornea Syndrome 1 Synonyms CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY, DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, EHLERS-DANLOS [mousephenotype.org]

Other names of the condition: EDS VIB Ehlers-Danlos syndrome type 6B Fragilitas oculi with joint hyperextensibility Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility [xpertdox.com]

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB [ukgtn.nhs.uk]