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96 Possible Causes for Retinal Degeneration, Round Face, Spinal Stenosis

  • Mucopolysaccharidosis

    Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression.[ncbi.nlm.nih.gov] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com] Corneal clouding was mentioned as another symptom characteristic of MPS and may be associated with glaucoma, retinal degeneration, and optic nerve swelling with subsequent[symptoma.com]

  • Mucopolysaccharidosis 2

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[secure.ssa.gov] Retinal degeneration is seen to a lesser degree in MPS IIB. Patients diagnosed with MPS IIB can live beyond the fifth decade of life.[emedicine.medscape.com]

  • Mucopolysaccharidosis 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Narrowing of the spinal canal ( spinal stenosis ) in the neck can compress and damage the spinal cord.[ghr.nlm.nih.gov] […] the subcortical white matter with expanded, fluid-filled perivascular spaces, spinal stenosis, and cord compression. 7 The first neuroradiologic studies in MPS were performed[ajnr.org]

  • Pseudohypoparathyroidism

    We are aware of only eight published reports of patients with PHP Type Ia and spinal stenosis-there are only two previously known cases of pediatric spinal stenosis secondary[ncbi.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] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[doi.org]

  • Zellweger Syndrome

    Stenosis Congenital Scoliosis and Kyphosis Neuromuscular Scoliosis Idiopathic Scoliosis Schmorl Node Scheuermann Disease Achondroplasia Mucopolysaccharidoses Sickle Cell[euro-libris.ro] 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] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov]

  • Occult Macular Dystrophy

    […] muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary[orpha.net] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[en.wikipedia.org] In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration, homozygosity mapping, and candidate[ncbi.nlm.nih.gov]

  • Arthritis

    Osteoarthritis of the spine can lead to lost flexibility, bone spurs (osteophytes), irritated nerves, spinal stenosis, and sciatica.[spine-health.com] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[orthop.washington.edu] degeneration Leflunomide 20 mg po once/day or, if adverse effects occur, reduced to 10 mg once/day Skin reactions Hepatic dysfunction Alopecia Diarrhea Peripheral neuropathy[merckmanuals.com]

  • Kyphosis

    We present this case and a review of the literature on spinal stenosis in achondroplasia and the complication of post-laminectomy kyphosis.[ncbi.nlm.nih.gov] The knees should be flexed so that the lower back is resting in a slightly rounded or neutral position.[web.archive.org] […] artery occlusion [ 107 ] Kidney failure due to compression of a ureter [ 108 ] Nerve root injury and degeneration due to compression [ 109 ] Recurrent meningitis [ 110 ][doi.org]

  • Rheumatoid Arthritis

    Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) T Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome[rheumatology.org] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[orthop.washington.edu] degeneration Leflunomide 20 mg po once/day or, if adverse effects occur, reduced to 10 mg once/day Skin reactions Hepatic dysfunction Alopecia Diarrhea Peripheral neuropathy[merckmanuals.com]

  • Laron Syndrome with Immunodeficiency

    , patterned, 3 1 Macular Dystrophy, Retinal, 2 3 Macular Dystrophy, Vitelliform, 4 4 Macular Dystrophy, Vitelliform, 5 2 Macular Dystrophy, Vitelliform, Adult-Onset 5 Majeed[preventiongenetics.com] Calcitonin treatment in lumbar spinal stenosis. Clinical observations. Calcif Tissue Int 1989;45:372-374 [102] Herno A. Surgical results of lumbar spinal stenosis.[tankonyvtar.hu] face Rieger anomaly Abnormality of the mandible Gait disturbance Hypoplasia of the iris Enlarged thorax Small epiphyses Thin bony cortex Bilateral coxa valga Opacification[mendelian.co]

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