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4,147 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Hepatomegaly

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] 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 patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[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] […] neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Gaucher Disease

    A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection[ncbi.nlm.nih.gov] Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea.[ncbi.nlm.nih.gov] After 4years of ERT, therapeutic goals for thrombocytopenia and splenomegaly had been achieved in 100% of patients; goals for anemia and hepatomegaly had been achieved in[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis

    […] patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly[ncbi.nlm.nih.gov] opacities.[ncbi.nlm.nih.gov] Abstract We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] 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] Extra-skeletal manifestations include respiratory problems, hepatomegaly, valvulopathies, hearing loss and corneal clouding. Intelligence is normal.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    [emedicine.medscape.com] Abnormal enlargement of the liver ( hepatomegaly ) is common in individuals with Maroteaux-Lamy syndrome.[symptoma.com] 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] […] of Maroteaux-Lamy syndrome in a child aged 9 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, prominent ophthalmological signs, hepatomegaly[scopemed.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] 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
  • Mucopolysaccharidosis 4A

    […] may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly[rarediseases.info.nih.gov] Cornea Corneal opacities are universally present in all forms of MPS I.31 Fine grey punctate opacities are first seen in the anterior stroma; later, as the disease progresses[touchophthalmology.com] […] people may also experience involvement of other organ systems such as respiratory problems,valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly[checkorphan.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[ncbi.nlm.nih.gov] opacity 0007957 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge[rarediseases.info.nih.gov] Liver disease was evident from hepatomegaly and elevated serum liver enzymes and bilirubin.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system.[en.wikipedia.org] Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.[genecards.org] Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses.[invitae.com]

    Missing: Early-Onset Coronary Artery Stenosis

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