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473 Possible Causes for Coarse Facial Features, Hirsutism, Macroglossia

  • Mucopolysaccharidosis

    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] 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]

  • Mucopolysaccharidosis 6

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

  • 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] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.com]

  • 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] […] growths) Sleep apnea Widened fingers or toes, with swelling, redness, and pain Other symptoms that may occur with this disease: Colon polyps Excess hair growth in females ( hirsutism[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]

  • Mucopolysaccharidosis 1

    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] […] 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 1H

    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] […] ankylosis of temporomandibular joint, infiltration of pharyngeal tissues and tracheal cartilages, intraluminal narrowing of the conductive airways and excessive secretions, macroglossia[joacp.org] 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]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance.[ncbi.nlm.nih.gov] Features of AGU include progressive intellectual disability, characteristic facial features and body structure (i.e. microcephaly, coarse facies, low nasal bridge, macroglossia[egl-eurofins.com]

  • Mucopolysaccharidosis 1 H-S

    facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[icdlist.com]

  • Launois Syndrome

    .: Symmetriclipomatosis of the tongue presenting as macroglossia: Report of two cases. J Craniomaxillofac Surg 1993;7:298-301.[dryoho.com] Structural factors related to retroglossal obstruction include macroglossia and tumor.[emedicine.medscape.com] Like hypothyroidism, acromegaly is associated with macroglossia and increased soft tissue mass in the pharyngeal region and thus with an increased risk of SDB.[emedicine.medscape.com]

  • Hypertrichotic Osteochondrodysplasia

    […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[familydiagnosis.com] Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[ncbi.nlm.nih.gov] […] coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia[orpha.net]

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