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3,059 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Multiple Congenital Anomalies

  • 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]

  • Winchester Syndrome

    The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de] Abstract The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    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] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net]

    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] anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial[se-atlas.de] 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 4

    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] Specific features include: Corneal opacity not a usual feature. Some flecks may be seen on slit lamp examination. Chronic diarrhoea is a common problem.[genetics4medics.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Turner Syndrome

    Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta.[magicfoundation.org] […] arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples.[magicfoundation.org] Characteristics Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high[magicfoundation.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cockayne Syndrome

    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] CONGENITE MULTIPLE CON RITARDO MENTALE RP0040 SINDROME ALCOLICA FETALE[webalice.it] 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

    Eyes revealed dense corneal opacities with complete loss of vision in right eye. Left eye was normal. Patient was edentulous.[ijdvl.com] Saddle-nose, saber-tibia, corneal scarring or opacities, Hutchinson’s incisers, nerve deafness, rhagades, Clutton’s joints and nodular or gummatous lesions of the skin etc[stdpioneer.org] Interstitial keratitis (usually between 5 and 20 years of age) can lead to glaucoma or corneal scarring (an injury of the cornea of the eye that causes opacity and visual[casereports.bmj.com]

    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] […] trophe, nourishment] The condition of having multiple congenital anomalies of the connective tissues. pseudo-Hurler polydystrophy Mucolipidosis type III.[medical-dictionary.thefreedictionary.com]

  • Isolated Congenital Sclerocornea

    In 1 patient, the corneal opacity spontaneously improved.[odlarmed.com] SNP ID Clin Chr 0X pos Sequence Context AA Info Type rs121917889 Pathogenic, Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801] 11,121,652( )[genecards.org] Fryns syndrome First described in 1979, Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome.[emedicine.medscape.com]

    Missing: Early-Onset Coronary Artery Stenosis

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