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625 Possible Causes for Joint Hypermobility, Short Stature

  • Mucopolysaccharidosis 4

    Skeletal dysplasia : Kyphoscoliosis, genu valgum, chest wall deformities. Short stature. ligamentous laxity/joint hypermobility.[] Joint hypermobility (of the wrist in particular) may develop and can be especially helpful in establishing clinical suspicion as it is unique to MPS IVA and MPS IVB among[] The problems tied to Morquio syndrome lead to symptoms such as curved spine (scoliosis), joints that move more than they should (hypermobility), neck that moves more than[]

  • Ehlers Danlos Syndrome Classic Type

    Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature HEAD AND NECK: [Face]; Narrow maxilla; [Ears]; Hypermobile; Lop ears; [Eyes]; Myopia; Blue sclerae[] Deficiency or alteration of the collagen present in the tissues results in some classic signs such as skin hyper extensibility, joint hypermobility, and vascular fragility[] Joint laxity is a common manifestation of many hereditary disorders of connective tissue, and can be found as well in many skeletal dysplasias.[]

  • Mucopolysaccharidosis 4A

    Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding.[] Ligamentous laxity contributes to joint instability and hypermobility, and may be detrimental in patients suffering from dysplasia of the vertebral column.[] In addition, joint hypermobility is unique to MPS IV.[]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] The patient showed a wide spectrum of symptoms including skeletal dysplasia and short stature with elevated glycosaminoglycans (GAGs) in urine.[] The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[]

  • Osteoporosis-Pseudoglioma Syndrome

    stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x.[] hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Kyphoscoliosis 0002751 Metaphyseal widening Broad wide portion of long bone 0003016[] The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs.[]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature[] hypermobility, and skin anomalies (in particular keloid formation).[] Abstract Rubinstein-Taybi syndrome (RTS) is a well-known disorder characterized by growth and mental retardation, typical facial features, short stature, and broad thumbs[]

  • Ehlers-Danlos Syndrome Type 4

    A few reports have described some unusual phenotypic manifestations, including large eyes with a thin nose, hollow cheeks, small lips, lobeless ears, short stature, and thin[] The first is joint hypermobility (often called loose or double joints).[] […] excavatum Funnel chest 0000767 Peripheral arteriovenous fistula 0100784 Pneumothorax Collapsed lung 0002107 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short[]

  • Coffin-Lowry Syndrome

    stature, soft fleshy hands with tapering fingers and skeletal abnormalities.[] hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair syndrome Mental[] Abstract Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[]

  • Oculocerebrorenal Syndrome

    stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma, excess skin folds and eruption cysts in oral cavity), dental malformations, cryptorchidism[] However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint effusions[] * Hydrophthalmos * Epicanthal folds * Flabby muscles * Joint hypermobility * Rickets * Underdeveloped testes * Excess fatty tissue Causes - Lowe oculocerebrorenal syndrome[]

  • Osteogenesis Imperfecta Type 15

    OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae.[] The mother had velvety skin and small-joint hypermobility.[] (hypermobility) and flat feet.[]

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