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285 Possible Causes for Mental Retardation, Round Face, Spinal Cord Compression

  • Mucopolysaccharidosis

    Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior[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] The main radiological features include atlanto-axial subluxation, odontoid hypoplasia, periodontoid soft tissue masses, spinal canal narrowing, and spinal cord compression[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] […] hearing impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal cord compression and cervical myelopathy.[touchneurology.com] […] 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]

  • Pseudopseudohypoparathyroidism

    cord compression due to congenital vertebral anomalies.[ncbi.nlm.nih.gov] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] 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]

  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[mps1disease.com] Atlantoaxial subluxation and stenosis of the spinal canal are observed in about a third of MPS-IH patients and results in spinal cord compression and early cervical myelopathy[symptoma.com]

  • Pseudohypoparathyroidism

    Literature was searched using cross-reference of PHP and the terms "spinal stenosis," "myelopathy", "myelopathic," and "spinal cord compression."[ncbi.nlm.nih.gov] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[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]

  • Pseudohypoparathyroidism Type 1A

    Spinal cord compression associated with pseudohypoparathyroidism. J R Soc Med 1990;83:50-1.[hkmj.org] 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]

  • Prader-Willi Syndrome

    This was due to myelum compression with a spinal dislocation cranial to the fusion level, and subsequent proximal hook failure.[ncbi.nlm.nih.gov] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[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]

  • Zellweger Syndrome

    Compression of the cervical spinal cord can occur and may warrant intervention.[clinicaladvisor.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    cord (e.g., tethered cord syndrome and spinal cord compression) Motor neuron disorders such as slowly progressive amyotrophic lateral sclerosis (ALS) or primary lateral sclerosis[centogene.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skinanomalies Mental Retardation[familydiagnosis.com]

  • Pseudohypoparathyroidism Type 2

    SPINAL CORD COMPRESSION IN PSEUDOHYPOPARATHYROIDISM.[ncbi.nlm.nih.gov] 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]

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