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3,019 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Skeletal Dysplasia

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[whonamedit.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    Locations & Doctors Nemours is world-renowned for skeletal dysplasia diagnosis and treatment.[nemours.org] To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding[medicinenet.com] They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities.[cags.org.ae]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis

    A radiologist with special expertise in skeletal dysplasias evaluated the radiographs.[ncbi.nlm.nih.gov] Central dense corneal opacity typical of Peters anomaly. B .[aao.org] Hurler-like, coarse facial features and severe skeletal dysplasia may also be observed in ML type 2 patients.[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[scholars.northwestern.edu] A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic[unboundmedicine.com] [rarediseases.org] Eyes Corneal Opacity A large head, short neck, corneal opacity , open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[symptoma.com] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[icd10data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Turner Syndrome

    dysplasia.[magicfoundation.org] dysplasias (normal aortic root diameters may be different for population groups that are generically small, such as children, rather than those that are skeletally small[pediatrics.aappublications.org] , including intrauterine growth retardation, gradual decline in height velocity in childhood, absence of pubertal growth spurt and to end organ resistance resulting from skeletal[magicfoundation.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cockayne Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] Cataracts and cloudiness of the cornea (corneal opacity) are common. The loss of and damage to nerves of the optic nerve, causing optic atrophy can occur.[en.wikipedia.org] Both eyes had low visual acuity, corneal epithelial degeneration, punctate opacities of the lens, and retina disorders.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Stuve-Wiedemann Syndrome

    Kazimierz Kozlowski and Peter Beighton, Skeletal Dysplasia Syndromes, Gamut Index of Skeletal Dysplasias, 10.1007/978-1-4471-0295-3_3, (81-231), (2001).[doi.org] Bilateral corneal opacities were dealt with by means of corneal transplantation performed at the age of 6 years.[smw.ch] We describe a female infant born at term to consanguineous parents, with a suspicion of skeletal dysplasia in utero.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis

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