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304 Possible Causes for Coarse Facial Features, Hepatomegaly

  • 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] Physical findings include hepatomegaly, jaundice, ascites, spider angiomas, fever, and encephalopathy. 12 Established alcoholic cirrhosis can manifest with decompensation[clevelandclinicmeded.com]

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] […] neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly[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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly[symptoma.com]

  • 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] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com]

  • Fucosidosis

    He had a coarse face, hepatomegaly and generalized spasticity.[ncbi.nlm.nih.gov] Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[ncbi.nlm.nih.gov] Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.[uniprot.org]

  • Mucopolysaccharidosis 6

    […] of Maroteaux-Lamy syndrome in a child aged 9 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, prominent ophthalmological signs, hepatomegaly[scopemed.org] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org] [emedicine.medscape.com] Abnormal enlargement of the liver ( hepatomegaly ) is common in individuals with Maroteaux-Lamy syndrome.[symptoma.com]

  • 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] […] 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] Ultrasound of the abdomen revealed hepatomegaly with fatty infiltration and umbilical hernia with bowel loops and omentum as contents.[joacp.org]

  • Mucopolysaccharidosis 7

    Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system.[en.wikipedia.org] 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] Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.[genecards.org]

  • 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] Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe.[ggc.org] Hepatomegaly and peripheral corneal deposits resembling arcus senilis were present. Peripheral leukocytes contained basophilic granulation.[annals.org]

  • 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] Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov] Abstract We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis[ncbi.nlm.nih.gov]

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