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15 Possible Causes for Congenital Joint Contractures - Knee Ankle Hip Elbow, Skeletal Dysplasia

  • Freeman-Sheldon Syndrome

    dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating[en.wikipedia.org] The joints of the hands, wrists, feet, and ankles are most commonly involved although more proximal joints ( e.g ., elbow, shoulder, knee, and hip) also can be affected.[ojrd.biomedcentral.com] […] disorder defined by facial and skeletal abnormalities.[ncbi.nlm.nih.gov]

  • Arthrogryposis due to Muscular Dystrophy

    View Subspecialty Skeletal dysplasia is not just one disorder—it’s a group of more than 300 disorders.[ortho-institute.org] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Investigations X-rays of all joints may show bony abnormalities, including missing bones, skeletal dysplasias, scoliosis, ankylosis and fractures arising from difficult delivery[patient.info]

  • Arthrogryposis Syndrome

    Investigations X-rays of all joints may show bony abnormalities, including missing bones, skeletal dysplasias, scoliosis, ankylosis and fractures arising from difficult delivery[patient.info] The joints of the hands, wrists, feet, and ankles are most commonly involved although more proximal joints ( e.g ., elbow, shoulder, knee, and hip) also can be affected.[ojrd.biomedcentral.com] dysplasia and spine problems.[seattlechildrens.org]

  • Congenital Contractural Arachnodactyly

    BETHLEM MYOPATHY 2 Bhaskar Jagannathan Syndrome Bone Fragility with Contractures, Arterial Rupture, and Deafness Bowen Syndrome Camptodactyly Joint Contractures and Facial Skeletal[rgd.mcw.edu] […] deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis[diseaseinfosearch.org] They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows.[snpedia.com]

  • Ehlers-Danlos Syndrome

    Myopathic EDS (mEDS) characterized by congenital muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal joint contractures (joints of the knee, hip and[web.archive.org] EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition[uniprot.org] Box 2 Conditions mistaken for Ehlers–Danlos syndrome Osteogenesis imperfecta Loeys–Dietz syndrome Skeletal dysplasias Mucopolysaccharidoses Cutis laxa Pseudoxanthoma elasticum[doi.org]

  • Limb-Girdle Muscular Dystrophy

    Hip dysplasia Scoliosis Systemic: Variable among families Cardiac: Usually normal Eye: Cataracts, infantile-onset; Strabismus Hepatomegaly with steatosis Laboratory Serum[neuromuscular.wustl.edu] […] high Moderate Legs arms; mild to moderate facial involvement LGMD2N POMT2 / protein O-mannosyl transferase 2 Early childhood High Slow Calf hypertrophy; scapular winging; skeletal[now.aapmr.org] Distribution Flexion: IP joints medial 4 fingers, wrists, elbows, ankles Proximal: Pectorals, Knees, Shoulders, Hips Truncal Congenital: Torticollis Disease progression:[neuromuscular.wustl.edu]

  • Degenerative Disorder

    Skeletal dysplasia may be associated, but hepatosplenomegaly and cherry-red spots are usually absent.[doi.org] Myopathic EDS (mEDS) characterized by congenital muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal joint contractures (joints of the knee, hip and[web.archive.org] Hepatosplenomegaly, coarse facial features, macular cherry-red spots, and skeletal dysplasia are also present, and death supervenes within ages one and three years.[doi.org]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    dysplasia CLN1 disease CLN10 disease CLN11 disease CLN13 disease CLN2 disease CLN3 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease[se-atlas.de] Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Dysplasia Torrance Type 2 Pleuropulmonary Blastoma 1 Pneumothorax, Primary Spontaneous 1 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary[preventiongenetics.com] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Hormone Deficiency, Combined, 6 1 Pityriasis rubra pilaris 1 Plasminogen Activator Inhibitor Type 1 Deficiency 2 Platelet Glycoprotein IV Deficiency 3 Platyspondylic Lethal Skeletal[preventiongenetics.com]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.[umd.be] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Babies with congenital muscular dystrophy often appear “floppy” (this may also be described by doctors as having low muscle tone or hypotonia).[mda.org.au]

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