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3,816 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Splenomegaly

  • 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] Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly/Splenomegaly[mps1disease.com] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly/Splenomegaly[mps1disease.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]

  • Gaucher Disease

    CONCLUSION: HALS for GD patients with refractory hypersplenism and massive splenomegaly is safe and feasible in experienced hands.[ncbi.nlm.nih.gov] Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea.[ncbi.nlm.nih.gov] [ncbi.nlm.nih.gov] Massive Splenomegaly CONCLUSION: HALS for GD patients with refractory hypersplenism and massive splenomegaly is safe and feasible in experienced hands.[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    […] trunk (dwarfism), dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (hepatomegaly) or spleen (splenomegaly[en.wikipedia.org] 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] […] slowly to 20-30mg/kg/day in divided doses 40. 40 Adverse effect drowsiness, diplopia, vertigo, araxia, blurred vision, GI upset, skin reaction, lymphadenopathy, eosinophilia, splenomegaly[slideshare.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis

    […] conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly and/or splenomegaly[ncbi.nlm.nih.gov] opacities.[ncbi.nlm.nih.gov] Disturbance - see also Disease Fabry's disease (angiokeratoma corporis diffusum) 272.7 Gaucher's disease (adult) (cerebroside lipidosis) (infantile) 272.7 hepatomegaly 272.7 splenomegaly[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    Less often, the spleen may also be enlarged (splenomegaly).[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] Macrocephaly Enlarged tongue Prominent forehead Possible coarse texture of hair Hepatomegaly and splenomegaly are often present in patients with MPS VI.[emedicine.medscape.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Tangier Disease

    Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD).[ncbi.nlm.nih.gov] The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia.[ncbi.nlm.nih.gov] opacities, hypocholesterolemia, low HDL cholesterol, or following a familial screening of Tangier patients.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    Splenomegaly occurs in the hematopoietic system.[en.wikipedia.org] […] loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32 , 33 ], hepatomegaly and splenomegaly[rheumatology.oxfordjournals.org] opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the[en.wikipedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cockayne Syndrome

    This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly.[ncbi.nlm.nih.gov] 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
  • Congenital Syphilis

    Compared with term neonates with CS, preterm ones were more likely to have characteristic skin rash (36.2 vs. 9.7%, p 0.001), hepatomegaly (51.7 vs. 25%, p 0.02), splenomegaly[ncbi.nlm.nih.gov] Eyes revealed dense corneal opacities with complete loss of vision in right eye. Left eye was normal. Patient was edentulous.[ijdvl.com] Less common presentations include patchy alopecia, anterior uveitis, meningitis, cranial nerve palsies, hepatitis, splenomegaly, periostitis and glomerulonephritis.[patient.info]

    Missing: Early-Onset Coronary Artery Stenosis

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