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516 Possible Causes for Coarse Facial Features, Hepatosplenomegaly, Hirsutism

  • 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] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com]

  • 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 6

    [termedia.pl] Liver, Gall & Pancreas Hepatosplenomegaly Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly[symptoma.com] 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] Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects.[medical-dictionary.thefreedictionary.com]

  • 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] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[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] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Mucopolysaccharidosis 1H

    Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] 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] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[britannica.com]

  • Mucopolysaccharidosis 3

    Affected children are prone to sinus and ear infections, diarrhea, enlarged tonsils and hepatosplenomegaly. Children are hyper and agressive; frequent temper tantrums.[phoenixnestbiotech.com] Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[mpssociety.org] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org]

  • Mucopolysaccharidosis 1 H-S

    […] noisy breathing specially during sleep and bulging abdomen noticed recently was examined and investigated thoroughly to reveal corneal clouding, coarse facial features, hepatosplenomegaly[scopemed.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net] Carpal Tunnel Syndrome Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly[mps1disease.com]

  • Aspartylglucosaminuria

    The observation of vacuolated lymphocytes in a coarsely featured two year old female with hepatosplenomegaly, mitral insufficiency, and mild psychomotor retardation led to[ncbi.nlm.nih.gov] facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] The affected sibs have the "cardinal" manifestations of AGU, including developmental disabilities, progressive "coarsening" of the face, and early onset of hepatosplenomegaly[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1S

    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] Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[rarediseases.org] […] short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli, abdominal distension, umbilical hernia, noisy breathing, and hirsutism[jcor.in]

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