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367 Possible Causes for Coarse Facial Features, Hepatosplenomegaly

  • Chronic Alcoholism

    A 42-year-old man with a history of Billroth II-gastrectomy, chronic alcoholism, and malnutrition developed acute tetraparesis, two days before admission. He presented with bilateral, proximal upper and lower limb weakness, limb girdle wasting, bilaterally reduced Achilles tendon reflexes, and bilateral stocking-type[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] Mucopolysaccharidosis VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, cardiovascular abnormalities[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Enzyme replacement therapy (ERT) using idursulfase (Elaprase ) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and[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] Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly[orpha.net]

  • Mucopolysaccharidosis 1

    Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[icd10data.com] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Symptoms usually become apparent between three and eight years of age and include coarse facial features, corneal clouding, joint stiffness, short stature and hepatosplenomegaly[news-medical.net]

  • Mucopolysaccharidosis 6

    [termedia.pl] Liver, Gall & Pancreas Hepatosplenomegaly Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly[symptoma.com] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.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]

  • Fucosidosis

    It causes mental retardation, neurological deterioration, coarse facial features, thickened skin, and hepatosplenomegaly.[medical-dictionary.thefreedictionary.com] 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] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[orpha.net]

  • Mucopolysaccharidosis 7

    Clinical description Clinical signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly[orpha.net] 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] Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button[ghr.nlm.nih.gov]

  • Mucolipidosis

    […] girl with mucolipidosis type III included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly[jamanetwork.com] Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov] Myoclonus, mental deterioration, hepatosplenomegaly, muscle weakness and atrophy are common.[disorders.eyes.arizona.edu]

  • Mucopolysaccharidosis 1H

    Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] […] 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] The classical features of Hurler's syndrome are dwarfism with grotesque skeletal deformity, ugly facies, deafness, clouding of the cornea, hepatosplenomegaly, cardiac abnormalities[jamanetwork.com]

  • Beckwith-Wiedemann Syndrome

    […] finding 4 otic dysplasia ref omphalocoele localized gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic islet cell hyperplasia organomegaly nephromegaly hepatosplenomegaly[radiopaedia.org] Children with Costello syndrome have very coarse facial features and failure to thrive.[en.wikibooks.org] , coarse facial features, and broad hands.[ncbi.nlm.nih.gov]

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