Possible Causes for hyperextensible joints 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 [msdmanuals.com] 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] Careful positioning and avoidance of hyperextension of the neck are necessary. [medicalhomeportal.org] […] of neck hyperextension [32]. [hindawi.com] 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] joints, and a soft out-pouching in the lower abdomen called an inguinal hernia. [ghr.nlm.nih.gov] 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] 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] 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] 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] Eczema, mucocutaneous candidiasis, retention of the primary teeth, coarse facial features, osteopenia, hyperextensible joints and increased risk of malignancy are also common [medcraveonline.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. [ghr.nlm.nih.gov] 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 [ghr.nlm.nih.gov] 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] 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] 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] Hypochondroplasia Hypochondroplasia (HCH) is the mildest form of chondrodysplasia characterized by disproportionate short stature, short extremities, and variable lumbar lordosis. It is caused by mutations in fibroblast growth factor receptor 3 (FGFR3) gene. Up to date, at least thirty mutations of FGFR3 gene have been found to[…] [ncbi.nlm.nih.gov] 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] 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 Classic-Like Type 1 […] skin, hypermobile joints and tissue fragility. [medical-dictionary.thefreedictionary.com] Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation Dominant (rare recessives) COL5A1 and COL5A2 Classical EDS Hypermobility Type (EDS type III [uwcpdx.org] These symptoms include easy bruising, abnormally stretchy skin (hyperextensible), very loose joints with an abnormally large range of movement (hypermobility), and joints [diseaseinfosearch.org] 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] (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] Hyperextensibility" [1] Associated Co-morbidities Joint hypermobility Hearing impairment/Loss Excessive diaphoresis Cardiovascular complications Scoliosis Pectus deformity [physio-pedia.com] 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] Aarskog-Scott Syndrome By contrast, palpebral ptosis, syndactyly, joint hyperextension and hernias were documented less frequently in nonmutated patients. [doi.org] 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] 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] Wilson Disease Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong[…] [ncbi.nlm.nih.gov] 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] Overview A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility [checkorphan.org] 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] 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] 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] Atkin Syndrome Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes[…] [ncbi.nlm.nih.gov] Oculocerebrorenal Syndrome Abstract The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X‐linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate‐5‐phosphatase. We performed the[…] [doi.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] Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. [icd10data.com] […] hypermobility and cutaneous hyperextensibility. [orpha.net] 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] Arterial Tortuosity Syndrome Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity [ncbi.nlm.nih.gov] In addition, patients display connective tissue features which include hyperextensible skin, hypermobility of joints and characteristic facial features. [ncbi.nlm.nih.gov] Other anomalies are skin hyperextensibility and cutis laxa, joint laxity or contractures of the joints, and inguinal herniae. [ncbi.nlm.nih.gov] Lateral Meningocele Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose ( hyperextensible ) joints that can lead [elbiruniblogspotcom.blogspot.com] joints that can lead to dislocations, and protrusion of organs through gaps in muscles (hernias). [malacards.org] intelligence is usually unaffected.Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible [malacards.org] Cutis Laxa Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. [ncbi.nlm.nih.gov] Other clinical features include hyperelastic skin with easy bruising, varicosities, bladder diverticuli, hernias, hyperextensible joints and multiple skeletal anomalies. [cancertherapyadvisor.com] It is characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities. [mayoclinic.pure.elsevier.com] 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]
