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531 Possible Causes for Mental Retardation, Round Face, Scoliosis

  • Congenital Muscular Dystrophy

    CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised.[] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[]

  • Prader-Willi Syndrome

    The literature dealing with scoliosis surgery in PWS consists of only few case reports.[] Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[]

  • Mucopolysaccharidosis

    The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[] 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[] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[]

  • Mucopolysaccharidosis 2

    Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[] […] visceral enlargement with hepatosplenomegaly (manifested by a protuberant abdomen); skeletal changes with metacarpal and vertebral processes evident on radiographs, and scoliosis[]

  • Mucopolysaccharidosis 1

    Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances.[]

  • Pseudohypoparathyroidism

    […] offered for rare orthopaedic or neurological manifestations: spinal stenosis, bilateral slipped capital femoral epiphyses, temporomandibular joint ankyloses, precocious scoliosis[] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[]

  • Chromosome 18p Deletion Syndrome

    Scoliosis (spinal curve) Scoliosis in individuals with 9p Deletions is related to hypotonia and core strength.[] Abstract Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum[] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[]

  • Neuhauser Syndrome

    Other findings described in the literature are bifid uvula, diffuse cortical atrophy, micrognathia, scoliosis, short stature, microcrania, hypertelorism, and hypotonia 2,4,6,7,10[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[]

  • Velocardiofacial Syndrome

    The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft palate or congenital heart defect.[] Program Nr: 85 for the 2006 ASHG Annual Meeting The TBX1 gene in the 22q11.2 deletion and duplication syndromes: a susceptibility factor for mental retardation. D.[] VFCS typically presents with abnormal shapes of structures in the face; with cleft palate, a term for incomplete fusion of the palate causing feeding problems.[]

  • Rett Syndrome

    BACKGROUND: Scoliosis is prominent in Rett syndrome (RTT).[] All patients had early global developmental delays followed later by severe mental retardation.[] He showed dysmorphic features including round face, anteverted nostrils, and tented upper lips.[]

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