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255 Possible Causes for Coarse Facial Features, Macroglossia

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[ncbi.nlm.nih.gov] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms.[ncbi.nlm.nih.gov] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.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] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov] IH is the most severe and has an early onset consisting of skeletal deformities, coarse facial features, hepatosplenomegaly, macrocephaly, cardiomyopathy, hearing loss, macroglossia[neurology.testcatalog.org]

  • Acromegaly

    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] Inspection of the soft tissue revealed only macroglossia, although external palpation indicated a subcutaneous stiffness of the submandibular area.[ncbi.nlm.nih.gov] This leads to coarse facial features, soft tissue swelling (including the tongue), enlargement of the hands and feet, respiratory problems, hypertension, diabetes mellitus[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org] [rarediseases.org] Jaw & Teeth Macroglossia . , , , , , Source MeSH Alveolar Process Child Consanguinity Dentigerous Cyst Gingival Hyperplasia Humans Macroglossia Male Mouth[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]

  • Fucosidosis

    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] […] features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA[connects.catalyst.harvard.edu] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[orpha.net]

  • Congenital Hypothyroidism

    The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[health.cvs.com] Coarse facies, macroglossia, constipation, and short trunk may become evident either during or beyond the neonatal period.[currentpediatrics.com] Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24 , 16–21.[link.springer.com]

  • Juvenile Myxedema

    […] frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia[patient.info] ORAL MANIFESTATIONS Symptoms  Teeth  Jaw bone  Palate  Macroglossia  Lips Radiological features  Skull changes  Air sinuses  Teeth  Jaw bone 11.    Surgery- trans[slideshare.net]

  • Launois Syndrome

    .: Symmetriclipomatosis of the tongue presenting as macroglossia: Report of two cases. J Craniomaxillofac Surg 1993;7:298-301.[dryoho.com]

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