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496 Possible Causes for Coarse Facial Features, Corneal Opacity

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[]

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[]

  • Winchester Syndrome

    Affiliated tissues include bone , skin and testes , and related phenotypes are gingival overgrowth and coarse facial features OMIM : 57 Winchester syndrome presents with severe[] The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[] Abstract The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities[]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[]

  • Mucopolysaccharidosis 6

    Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[] 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[] [] 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[]

  • Mucopolysaccharidosis 4

    Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[] 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[] They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities.[]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[] 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[] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[]

  • Mucolipidosis

    Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[] opacities.[] Her vision began deteriorating at 12 years of age, due to bilateral corneal opacities and retinal degeneration.[]

  • Pseudo-Hurler Polydystrophy

    These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[]

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