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311 Possible Causes for Coarse Facial Features, Hepatomegaly, Hoarseness

  • Chronic Alcoholism

    Hepatomegaly (in chronic alcoholic liver disease the liver is shrunken). Ascites; gonadal atrophy. Atrial fibrillation and cardiomyopathy.[patient.info] Characteristic ultrasonographic findings include a hyperechoic liver with or without hepatomegaly.[clevelandclinicmeded.com] Most patients with moderate disease are undernourished and present with fatigue, fever, jaundice, right upper quadrant pain, tender hepatomegaly, and sometimes a hepatic bruit[merckmanuals.com]

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] 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]

  • Mucopolysaccharidosis 4

    Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] […] deformity, dorsolumbar kyphosis, increased anteroposterior diameter of chest, pectus excarinatum, waddling gait, pot belly, valgus deformity of both upper and lower limbs and hoarse[apicareonline.com] Extra-skeletal manifestations include respiratory problems, hepatomegaly, valvulopathies, hearing loss and corneal clouding. Intelligence is normal.[orpha.net]

  • Mucopolysaccharidosis 6

    [emedicine.medscape.com] Abnormal enlargement of the liver ( hepatomegaly ) is common in individuals with Maroteaux-Lamy syndrome.[symptoma.com] 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]

  • Acromegaly

    Additional symptoms of acromegaly may include abnormal enlargement of the liver (hepatomegaly), spleen (splenomegaly), intestines, and/or kidneys.[rarediseases.org] Ultimately they cause considerable disability (aside from the need for larger rings, gloves, and shoes) including hoarseness , sleep apnea , joint pain, cardiovascular disease[medicinenet.com] 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]

  • Mucopolysaccharidosis 1H

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] 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]

  • Mucolipidosis

    […] patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly[ncbi.nlm.nih.gov] 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]

  • Alpha-Mannosidosis

    The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing[genome.jp] 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] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]

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