Create issue ticket

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.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    The literature dealing with scoliosis surgery in PWS consists of only few case reports.[ncbi.nlm.nih.gov] Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • 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[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] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com]

  • 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.[omicsonline.org] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] […] visceral enlargement with hepatosplenomegaly (manifested by a protuberant abdomen); skeletal changes with metacarpal and vertebral processes evident on radiographs, and scoliosis[consultant360.com]

  • Mucopolysaccharidosis 1

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

  • Pseudohypoparathyroidism

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

  • Chromosome 18p Deletion Syndrome

    Scoliosis (spinal curve) Scoliosis in individuals with 9p Deletions is related to hypotonia and core strength.[9pminus.org] 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[ncbi.nlm.nih.gov] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org]

  • 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[scielo.br] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] 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[omim.org]

  • Velocardiofacial Syndrome

    The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft palate or congenital heart defect.[ncbi.nlm.nih.gov] 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.[ashg.org] 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.[symptoma.com]

  • Rett Syndrome

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

Similar symptoms