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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.[patient.info] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[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] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

  • 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[malacards.org] 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] 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]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] 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]

  • 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[emedicine.medscape.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] [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]

  • Mucopolysaccharidosis 4

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

  • 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[ldnz.org.nz] 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] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[invitae.com]

  • Mucolipidosis

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

  • 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[en.wikipedia.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] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[familydiagnosis.com]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com] […] 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[dx.doi.org]

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