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825 Possible Causes for Joint Hypermobility, Short Stature

  • Osteoporosis-Pseudoglioma Syndrome

    The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs.[] hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Kyphoscoliosis 0002751 Metaphyseal widening Broad wide portion of long bone 0003016[] Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental[]

  • 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).[] Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and[]

  • Hallermann Syndrome

    A case of a 29-year-old man with atypical HSS with neither cataracts, hair and skin alterations, nor short stature is reported, with special consideration to oral findings[] hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Low-set ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal widening Broad[] hypermobility Hypotrichosis of the scalp Metaphyseal widening Obstructive sleep apnea Parietal bossing Pectus excavatum Platybasia Recurrent respiratory infections Recurrent[]

  • Oculocerebrorenal Syndrome

    Systemic Features: Mental retardation, hypotonia, short stature, and developmental delays are common. Seizures and behavior problems are seen in older children.[] However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint effusions[] stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma, excess skin folds and eruption cysts in oral cavity), dental malformations, cryptorchidism[]

  • Mucopolysaccharidosis 4

    Morquio type B is characterized by a generalized skeletal dysplasia resulting in short stature, pectus carinatum (protrusion of the sternum), platyspodylia, scoliosis and[] Short stature. ligamentous laxity/joint hypermobility. Odontoid hypoplasia leading to atlantoaxial instability. Spinal cord compression leading to cervical myelopathy.[] 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[]

  • Coffin-Lowry Syndrome

    A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature[] hypermobility, hyperextensibility of interpharyngeal joint, deformity of middle finger, fixed position of forearm and thoracolumbar scoliosis.[] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[]

  • Ehlers Danlos Syndrome Classic Type

    Joint laxity is a common manifestation of many hereditary disorders of connective tissue, and can be found as well in many skeletal dysplasias.[] 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[] hypermobility.[]

  • Mucopolysaccharidosis 4A

    Short stature, skeletal dysplasia, dental anomalies and corneal clouding are the hallmarks of MPS-IVA.[] In addition, joint hypermobility is unique to MPS IV.[] Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding.[]

  • Ehlers Danlos Syndrome

    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[] No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome.[] The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity[]

  • Spondyloepiphyseal Dysplasia Type Reardon

    Symptoms via clinical synopsis from OMIM: 57 Growth Height: short stature Skeletal Spine: lumbar lordosis irregular vertebral end plates atlanto-axial subluxation os odontoideum[] hypermobility List of possible causes of Joint hypermobility or similar symptoms may include: 3 Aarskog syndrome (Joint hypermobility) Achondroplasia (Joint hypermobility[] […] syndrome Short stature-webbed neck-heart disease syndrome Short stature-wormian bones-dextrocardia syndrome Short-limb skeletal dysplasia with severe combined immunodeficiency[]

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