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235 Possible Causes for Macrocephaly, Round Face, Spinal Cord Compression

  • Mucopolysaccharidosis 2

    […] 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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • 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 patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[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 1

    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] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.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]

  • 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] Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. Am J Med Genet A. 2016 [ PubMed ] [ Google Scholar ] 14.[ncbi.nlm.nih.gov]

  • Achondroplasia

    In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent.[ncbi.nlm.nih.gov] face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[ncbi.nlm.nih.gov]

  • 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] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org]

  • McCune-Albright Syndrome

    Kyphotic deformity and spinal cord compression may occur.[emedicine.medscape.com] Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking.[whonamedit.com] (b) Three-dimensional reconstructed computed tomography (CT) image of a man age 26 years with craniofacial FD and uncontrolled growth hormone excess, leading to macrocephaly[iofbonehealth.org]

  • Platyspondyly

    Magnetic resonance imaging readily identifies vertebra plana and secondary spinal cord compression.[ncbi.nlm.nih.gov] Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[mendelian.co] […] prognathia Hyperlordosis Pes planus Small hand Myelopathy Limited elbow extension Decreased body weight Short phalanx of finger Functional respiratory abnormality Relative macrocephaly[mendelian.co]

  • Kniest Dysplasia

    For example, progressive kyphosis, which may lead to spinal cord compression and spastic paraparesis, is best treated by anterior and posterior fusion.[emedicine.medscape.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • 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] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

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