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560 Possible Causes for Retinal Degeneration, Round Face, Scoliosis

  • 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] […] 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] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.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] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.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] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances.[symptoma.com]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised.[ncbi.nlm.nih.gov] The eyes presented with severe myopia and retinal dysplasia.[doi.org] KEYWORDS: Fukuyama congenital muscular dystrophy; Scoliosis; Spinal fusion[ncbi.nlm.nih.gov]

  • Alstrom Syndrome

    degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[ncbi.nlm.nih.gov] […] truncal obesity, insulin resistance, type 2 diabetes mellitus, renal and hepatic dysfunction, hyperlipidemia, hypothyroidism, mental retardation, acanthosis nigricans, and scoliosis[ncbi.nlm.nih.gov] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com]

  • 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] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Kniest Dysplasia

    The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com] This is often true for spinal deformities such as scoliosis, hip conditions, knee complications and joint stiffness.[chop.edu] 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]

  • Stickler Syndrome

    Although common, scoliosis is generally self-limited (only one patient needed surgical treatment).[ncbi.nlm.nih.gov] Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    Scoliosis can be divided into the three major types: Idiopathic Scoliosis The cause has not been discovered so far.[lecturio.com] […] severity • Similar in appearance and symptoms to Type IV Type VII: • Some cases resemble Type IV and others Type II, except that infants have white sclera, small heads and round[choc.org] Thierry Léveillard and Laurence Klipfel , Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations , International Journal[doi.org]

  • Stickler Syndrome Type 2

    Skeletal abnormalities including a curved spine (scoliosis or kyphosis), hyper-mobile joints, early onset arthritis, chest deformities, hip disorders of childhood (called[verywell.com] Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] degeneration and detachment.[checkorphan.org]

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