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81 Possible Causes for Arthralgia, Hearing Impairment, Thick Facial Skin

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[journals.plos.org] They also had characteristic features of Hunter syndrome such as stunted growth, coarse facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened[mjdrdypu.org]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com]

  • Mucopolysaccharidosis 1H

    Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.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] Surgical incision in the eardrum can correct hearing impairment. In order to avoid complications, surgery has also been recommended for all inguinal hernias.[patienthelp.org]

  • Woodhouse Sakati Syndrome

    The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] patches of thick, darker, velvety skin .[maria-online.com] Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus,[ncbi.nlm.nih.gov]

  • Hypothyroidism

    Hearing impairment in CH is of considerable interest.[ncbi.nlm.nih.gov] […] expression, dementia or frank psychosis (myxedema madness) Dermatologic manifestations: Facial puffiness; myxedema; sparse, coarse and dry hair; coarse, dry, scaly and thick[merckmanuals.com] Musculoskeletal system: muscle stiffness, weakness, cramps, mialgias, arthralgias, joint stiffness and effusions, Carpal Tunnel syndrome and delayed linear bone growth in[flexikon.doccheck.com]

  • Lytic Bone Lesion

    impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es] The disease course may be complicated by arthralgia, arthritis, and hemarthroses. A rare, but dreaded complication is myelofibrosis.[ijem.in]

  • Growth Hormone Deficiency

    The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD.[ncbi.nlm.nih.gov] However, a nice side benefit is that growth hormone also increases the thickness of the skin.[drmarinajohnson.com] A total of 55.2% of patients were reported to have experienced adverse events (AEs), including arthralgia, myalgia, abdominal distension and hypoaesthesia, and 4.5% had adverse[ncbi.nlm.nih.gov]

  • Autoimmune Disease

    Two hearing impaired family members also had autoimmune diseases-Graves disease (GD) and Crohn disease (CD).[ncbi.nlm.nih.gov] The disease can cause skin to become thick or cause facial skin to become extremely tight. People with this disease may have trouble swallowing.[colgate.com] Most developed fever and arthralgias/arthritis. Other findings included serositis manifested by tachycardia, dyspnea and pleural effusions, headaches, and hair loss.[ncbi.nlm.nih.gov]

  • Baraitser Syndrome

    All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis[ncbi.nlm.nih.gov] The characteristic facial features of NCBRS include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip.[thinkgenetic.com] ., Moreno-Pelayo Miguel Ángel, In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment , 10.1093/hmg/ddp249 Bryan Keith[dial.uclouvain.be]

  • Blau Syndrome

    Credit: Wikimedia Commons Harlequin ichthyosis is a severe genetic disorder that results in thick skin spotted with deep cracks.[cbsnews.com] […] disease duration 4.7 years (range 1-13) Ethnicity (white) 22/22 (100%) Familial 3/22 (13.6%) Weight loss 13/22 (59.1%) Fever 13/22 (59.1%) Skin disease 19/22 (86.4%) Arthritis/arthralgia[clevelandclinicmeded.com] Joint pains There are often joint pains (arthralgias or arthritides), but generally NO tissue and cartilage changes can be seen on X rays.[autoinflammatory.org]

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