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346 Possible Causes for Mental Retardation, Round Face, Spinal Stenosis

  • Mucopolysaccharidosis 2

    Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[secure.ssa.gov] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Narrowing of the spinal canal ( spinal stenosis ) in the neck can compress and damage the spinal cord.[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Narrowing of the spinal canal ( spinal stenosis ) in the neck can compress and damage the spinal cord.[ghr.nlm.nih.gov] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] the subcortical white matter with expanded, fluid-filled perivascular spaces, spinal stenosis, and cord compression. 7 The first neuroradiologic studies in MPS were performed[ajnr.org]

  • Pseudohypoparathyroidism

    We are aware of only eight published reports of patients with PHP Type Ia and spinal stenosis-there are only two previously known cases of pediatric spinal stenosis secondary[ncbi.nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature.[ncbi.nlm.nih.gov] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org]

  • Pseudohypoparathyroidism Type 1A

    In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome.[ncbi.nlm.nih.gov] In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov]

  • Acrodysostosis

    An adult case of acrodysostosis with striking lumbar spinal canal stenosis is reported.[ncbi.nlm.nih.gov] Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov]

  • Aarskog-Scott Syndrome

    Atrophy Spinocerebellar Ataxia Spondyloepiphyseal Dysplasia Stickler Syndrome Stuve-Wiedemann Syndrome Succinic Semialdehyde Dehydrogenase Deficiency Supravalvar Aortic Stenosis[hfi-ivf.com] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism Type 2

    In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome.[ingentaconnect.com] face, dental dysplasia, dry coarse hair, mental retardation pseu·do·hy·po·par·a·thy·roid·ism ( sū'dō-hī'pō-par'ă-thī'royd-izm ) A disorder resembling hypoparathyroidism,[medical-dictionary.thefreedictionary.com] retardation, and increased levels of parathyroid hormone (PTH) due to the end organ hormone resistance to its action.[omicsonline.org]

  • Trisomy 20p

    However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis ), hypotonia (decreased muscle tone), lifelong[rarediseases.info.nih.gov] A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[ncbi.nlm.nih.gov] A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal[ncbi.nlm.nih.gov]

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