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1,582 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Umbilical Plaque

  • 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] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net] Typical symptoms include stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes.[cags.org.ae]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com] There is dwarfism, many skeletal deformities, corneal opacity, heart abnormalities, mental retardation and early death. The condition was once known as ‘gargoylism’.[medical-dictionary.thefreedictionary.com]

  • Mucopolysaccharidosis 6

    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] Corneal opacities can be detected with slitlamp examination. Restricted joint movement, including claw-hand deformities, appears in the first few years of life.[emedicine.medscape.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    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] , or moderate and severe corneal opacity groups.[nature.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    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] […] neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica in the eyes: corneal[en.wikipedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov] Ophthalmologic findings include corneal opacities on slit-lamp examination noted as diffuse stromal granularities.[emedicine.medscape.com]

    Missing: Umbilical Plaque
  • GM1 Gangliosidosis

    Title Other Names: Beta galactosidase 1 deficiency; GLB 1 deficiency; Beta-galactosidosis Subtypes: This disease is grouped under: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three[…][rarediseases.info.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Lytic Bone Lesion

    Slit lamp examination did not uncover corneal opacities.[docslide.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Baraitser-Winter Syndrome 1

    corneal reflex AR IKBKAP #223900 FISH-EYE DISEASE Corneal opacities AR LCAT #136120 FUCH'S ENDOTHELIAL CORNEAL DYSTROPHY Corneal endothelial guttata, stromal edema, endothelial[eyewiki.aao.org] […] clouding AD PAX6, ELP4 #106210 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS Cataract, corneal opacity, dysgenesis of ocular anterior segment AD FOXE3,PITX3 #107250 APERT SYNDROME[eyewiki.aao.org] […] limbus, corneal opacities, thin cornea AR KERA #217300 CORNELIA DE LANGE SYNDROME Myopia, ptosis, synophrys, long eyelashes, hypertelorism, telecanthus, hooding of eyelids[eyewiki.aao.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Kniest Dysplasia

    SED Maroteaux type is a form with manifestations limited to the musculoskeletal system. [6] SED tarda Toledo type is a form of SED tarda with peripheral corneal opacities[emedicine.medscape.com] Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate[emedicine.medscape.com]

    Missing: Early-Onset Coronary Artery Stenosis

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