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418 Possible Causes for Coarse Facial Features, Hearing Problem, Hirsutism

  • Mucopolysaccharidosis

    However, they may present with a variety of physical problems. These may include joint stiffness, heart problems, corneal clouding and hearing loss.[luriechildrens.org] 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]

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.com]

  • Mucopolysaccharidosis 6

    In rare cases, hearing loss may be due to a combination of both problems (mixed hearing loss).[rarediseases.org] 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]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] 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]

  • Incontinentia Pigmenti Achromians

    Other symptoms develop as the child grows, and may include: Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whorled[nlm.nih.gov] Other associated disorders occur inconsistently and include macrocephaly, microcephaly, h6mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal[cambridge.org] Symptoms Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whirled or mottled patchs of skin on the arms, legs, and[broadviewheightsfamilymedicine.com]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] 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]

  • Fabry Disease

    Hearing problems - This may include a gradual loss of hearing or ringing in the ears (tinnitus).[kidney.org] 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]

  • Mucopolysaccharidosis 1 H-S

    Physical symptoms may include eye and hearing problems, bone and joint malformation, and heart and breathing difficulties.[cags.org.ae] 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]

  • Mucopolysaccharidosis 7

    Hearing problems are common in the MPS disorders. Regular hearing evaluations are important so that children with hearing loss can be treated early.[encyclopedia.com] 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]

  • Mucopolysaccharidosis 3

    Some children have seizures others have visual and hearing problems.[jonahsjustbegun.org] Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[mpssociety.org] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org]

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