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293 Possible Causes for Coarse Facial Features, Frontal Bossing, Hoarseness

  • Mucopolysaccharidosis

    bossing.[invitae.com] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov]

  • Acromegaly

    The forehead and overlying skin is thickened, sometimes leading to frontal bossing.[orpha.net] Decreased peripheral vision Easy fatigue Excessive height (when excess GH production begins in childhood) Excessive sweating Headache Heart enlargement, which can cause fainting Hoarseness[nlm.nih.gov] 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]

  • Mucopolysaccharidosis 2

    Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] 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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis 1

    On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com]

  • Launois Syndrome

    We report the first description of a Launois-Bensaude syndrome involving the orbit. Launois-Bensaude syndrome was diagnosed in a 70-year-old-man who presented with severe bilateral proptosis (Hertel value 26mm). We performed a bilateral transpalpebral orbital decompression by resection of intraorbital fat without[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    [symptoma.com] Face, Head & Neck Frontal Bossing Examples include low and flat nasal bridge, frontal bossing , gingival hypertrophy, macroglossia, and hirsutism.[symptoma.com] In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.[neurology.testcatalog.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]

  • Gigantism

    Other symptoms include: Delayed puberty Double vision or difficulty with side (peripheral) vision Very prominent forehead ( frontal bossing ) and a prominent jaw Gaps between[nlm.nih.gov] Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad[ncbi.nlm.nih.gov] Children with gigantism may also have coarse facial features which include a larger than normal head, flat nose, and large lips and tongue.[symptoma.com]

  • Alpha-Mannosidosis

    Farber disease, disseminated lipogranulomatosis (ceramidase deficiency): Farber disease starts to manifest in infancy as a hoarse cry or swollen tender joints followed by[emedicine.medscape.com] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov] facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex).[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly.[ncbi.nlm.nih.gov] We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases[ncbi.nlm.nih.gov] facial features and skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov]

  • Syphilis

    […] bone of the skull (frontal bossing) Swollen knees Bowing of the shin bones (saber shins) Inflammation and scarring of the cornea (interstitial keratitis) Glaucoma Deafness[menshealth.about.com] We present a 53-year-old woman with an unusual truncal rash with painful anogenital lesions, accompanied by patchy alopecia, oral lesions, photophobia and hoarseness.[ncbi.nlm.nih.gov] Salient features are coarse movements, dull facial expression, increased muscle reflexes and pupil abnormalities. At the late stage seizures may occur.[alzheimer-europe.org]

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