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406 Possible Causes for Coarse Facial Features, Corneal Opacity, Hirsutism

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com] 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]

  • 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] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[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]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com]

  • 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] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.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]

  • 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] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[britannica.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]

  • Mucopolysaccharidosis 1 H-S

    facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net] Other symptoms may include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[cags.org.ae]

  • 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] hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange[csbg.cnb.csic.es] 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]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.[emedicine.medscape.com] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    features that are described as "coarse."[ncbi.nlm.nih.gov] Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.[malacards.org] Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities[ncbi.nlm.nih.gov]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] Barnes , CONGENITAL PORPHYRIA, HYDROA AESTIVALE AND HYPERTRICHOSIS IN A SOUTH AFRICAN BANTU , The Lancet , 256 , 6643 , (846) , (1950) .[doi.org] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com]

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