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1,088 Possible Causes for Mental Retardation, Possibly Scoliosis, Tall Stature

Did you mean: Mental Retardation, Possibly, Scoliosis, Tall Stature

  • Klinefelter Syndrome

    Osteoporosis may lead to vertebral collapse and even scoliosis.[] This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[] These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency.[]

  • Sotos Syndrome

    Other possible symptoms and signs can include: behavioral disturbances, intellectual disability, scoliosis, seizures, heart defects, kidney defects, weak muscle tone, stuttering[] Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[] Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous[]

  • Marfan Syndrome

    Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[] Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.[] It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[]

  • Homocystinuria

    The two diseases should be differentiated because of the thrombotic risk in homocystinuria, and also because in this disease there is a possibility of treating the biochemical[] Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features.[] Autosomal recessive disease caused by cystathionine synthase deficiency Patients normal at birth, then begin to develop developmental delays History / PE : Marfan features (tall[]

  • Marshall-Smith Syndrome

    […] laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis[] Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[] stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537[]

  • Trisomy X Syndrome

    At the follow up, this patient developed cyphosis and scoliosis. She continued to present asthma attacks and received inhaled corticosteroid with incomplete improvement.[] retardation Ovarian failure Posteriorly rotated ears Weak muscle tone Menstrual irregularities Having difficulty with interpersonal relationships Infertility Increased width[] Cognitive and intellectual abnormalities - A variable degree of intellectual impairment, in addition to tall stature, is another key feature of trisomy X syndrome.[]

  • Chudley-Rozdilsky Syndrome

    It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.[] Human phenotypes related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism: 60 33 (show all 35) # Description HPO Frequency Orphanet[] Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis[]

  • XYY Syndrome

    […] flat feet ( pes planus ), fifth fingers that curve inward ( clinodactyly ), widely spaced eyes ( ocular hypertelorism ), and abnormal side-to-side curvature of the spine ( scoliosis[] Mental retardation was mostly borderline to mild, and severe mental retardation was rare.[] RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance.[]

  • Growth Failure

    On examination he was also noted to have a small chest, subcostal recession and a mild thoracolumbar scoliosis.[] The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below.[] Describe when treatment is indicated for children with short and tall stature.[]

  • 48,XXXY Syndrome

    Pulmonary embolism;HP:0002205 Recurrent respiratory infections;HP:0002564 Malformation of the heart and great vessels;HP:0002648 Abnormality of calvarial morphology;HP:0002650 Scoliosis[] retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation Last updated: 8/10/2016 Research helps us better understand diseases and can[] While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes[]

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