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308 Possible Causes for Coarse Facial Features, Hoarseness, Joint Stiffness

  • Mucopolysaccharidosis

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] stiffness, and heart disease MPS IS - Aortic valve disease, corneal clouding, and joint stiffness; normal intelligence and stature MPS II (severe) – Pebbly ivory skin lesions[emedicine.medscape.com]

  • Mucopolysaccharidosis 2

    Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[symptoma.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] The vocal cords also enlarge, which results in a deep, hoarse voice.[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info]

  • Acromegaly

    Decreased peripheral vision Easy fatigue Excessive height (when excess GH production begins in childhood) Excessive sweating Headache Heart enlargement, which can cause fainting Hoarseness[nlm.nih.gov] A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[ncbi.nlm.nih.gov] ., carpal tunnel syndrome), joint pain and stiffness, increase in sweating (hyperhydrosis), and even changes in voice and body odor.[ccpd.ucsf.edu]

  • Mucolipidosis

    Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections.[ldnz.org.nz] Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov] However; the patients with late onset and/or mild joint stiffness experienced slowly progressive symptoms.[ncbi.nlm.nih.gov]

  • Launois Syndrome

    Furthermore, there is a growth of feet and hands, excessive sweating, increased body odor, arthropathy, joint stiffness and pain, and osteoarthritis-like features.[symptoma.com] Joint stiffness after rest, particularly in the morning. Dryness of the eyes and mouth.[dercums_data.tripod.com]

  • Mucopolysaccharidosis 1H

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] 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] Joint stiffness: Joint stiffness occurs by the age of 2 years and is progressive. There is a characteristic claw-hand deformity due to phalangial dysostosis.[symptoma.com]

  • Mucopolysaccharidosis 6

    In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.[neurology.testcatalog.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] The major clinical manifestations are corneal clouding, joint stiffness, and a skeletal dysplasia known as dysostosis multiplex.[egl-eurofins.com]

  • Mucopolysaccharidosis 1 H-S

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[icdlist.com] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] In addition to the skeletal abnormalities, patients exhibit progressive corneal clouding, deafness, aortic valve abnormalities and joint stiffness.[themedicalbiochemistrypage.org]

  • Pseudo-Hurler Polydystrophy

    Farber disease, disseminated lipogranulomatosis (ceramidase deficiency): Farber disease starts to manifest in infancy as a hoarse cry or swollen tender joints followed by[emedicine.medscape.com] 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] stiffness of the hands.[ncbi.nlm.nih.gov]

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