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2,560 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Joint Contracture

  • Mucopolysaccharidosis

    Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] contractures, and funnel chest.[ncbi.nlm.nih.gov] Majority of the patients had joint contractures, severe intellectual disability, error of refraction, hearing loss and valvular regurgitation on subspecialists' evaluation[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.[ingentaconnect.com] contractures.[secure.ssa.gov] contractures (from joint stiffness) Tests may include: Enzyme study Genetic testing for a change in the iduronate sulfatase gene Urine test for heparan sulfate and dermatan[medlineplus.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    Major sequelae include spinal cord compression, degenerative joint disease, contractures, and arthritis.[symptoma.com] The affected individuals often suffer from pain, gait difficulties, and restriction of joint movement.[symptoma.com] Degenerative joint disease is also common and can lead to the development of multiple joint contractures.[rarediseases.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    Affected individuals have arthrogryposis or early postnatal contractures of the spine (kyphosis, scoliosis) and joints.[ncbi.nlm.nih.gov] ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Schwartz-Jampel syndrome (SJS) is a disorder characterized by myotonia, joint contractures, skeletal abnormalities, facial dysmorphism and growth retardation.[ncbi.nlm.nih.gov] Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated[ncbi.nlm.nih.gov] Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hip Dysplasia Type Beukes

    contractures High pitched voice Progressive leg bowing Cleft palate Bowing of the long bones Lateral femoral bowing Hammertoe Wide proximal femoral metaphysis Micrognathia[mendelian.co] Total hip replacement in congenital dislocation and dysplasia of the hip. The Journal of Bone & Joint Surgery, 61(1), pp.15-23.[citethisforme.com] Surgery In older children the hip abductor and iliopsoas muscles have to be treated surgically because they adapt to the dislocated joint position ( contracture ).[wiki30.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Ehlers-Danlos Syndrome

    Joint contractures are more frequently mentioned in LDS than MFS.[annalscts.com] Developmental dysplasia of the hip (formerly congenital hip dislocation) occurs in 1% (the arthrochalasis type is characterized by bilateral developmental dysplasia of the[msdmanuals.com] Proximal joint contractures (knee, hip and elbow); and 3. Hypermobility of distal joints. There are four minor criteria.[raredr.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Turner Syndrome

    Contracture of the shoulder, also known as adhesive capsulitis, can result in pain and limitation of the normal range of movement of the joint.[rarediseases.org] ., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. 11 Girls with Turner syndrome typically[aafp.org] […] developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. 52, 57 This contributes to the development of arthritis[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Neurogenic Arthrogryposis Multiplex Congenita

    English neurogenic arthrogryposis multiplex congenita congenital joint contracture in two or more areas of the body arthrogryposis multiplex congenita AMC Guérin-Stern syndrome[wikidata.org] Journal of Pediatric Orthopedics. 1997;6:159-166. v • d • e Congenital malformations and deformations of musculoskeletal system ( Q65-Q79, 754-756 ) Limbs hip : Dislocation[bionity.com] A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to[checkorphan.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • X-linked Distal Spinal Muscular Atrophy Type 3

    […] testing) Distal proximal weakness/diaphragmatic weakness/alert child on ventilator/normal CPK/joint contracture/motor sensory axonopathy eventration of diaphragm: SMARD1[annalsofian.org] Contractures are reported frequently, and few patients present congenital hip dysplasia.[frontiersin.org] contractures 13.[slideshare.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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