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

  • Mucopolysaccharidosis 2

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

  • Mucopolysaccharidosis 6

    In rare cases, hearing loss may be due to a combination of both problems (mixed hearing loss).[] 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[] [] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[]

  • 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[] Other associated disorders occur inconsistently and include macrocephaly, microcephaly, h6mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal[] Symptoms Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whirled or mottled patchs of skin on the arms, legs, and[]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[]

  • Fabry Disease

    Hearing problems - This may include a gradual loss of hearing or ringing in the ears (tinnitus).[] Often patients have slight builds with characteristic coarse facial features and delayed puberty.[] Barnes , CONGENITAL PORPHYRIA, HYDROA AESTIVALE AND HYPERTRICHOSIS IN A SOUTH AFRICAN BANTU , The Lancet , 256 , 6643 , (846) , (1950) .[]

  • Mucopolysaccharidosis 1 H-S

    Physical symptoms may include eye and hearing problems, bone and joint malformation, and heart and breathing difficulties.[] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[] Other manifestations may include organomegaly, hernias and hirsutism.[]

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

  • Mucopolysaccharidosis 3

    Some children have seizures others have visual and hearing problems.[] 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[] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[]

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