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293 Possible Causes for Coarse Facial Features, Frontal Bossing

  • Mucopolysaccharidosis

    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] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] […] of the sutures, widened nasal bridge, frontal bossing, capud quadratum, widely spaced teeth, coarse facies, skin thickening, claw and shortened fingers (bradydactyly) with[amhsr.org]

  • Acromegaly

    The forehead and overlying skin is thickened, sometimes leading to frontal bossing.[orpha.net] 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] Untreated acromegaly results in marked bony and soft tissue changes including an altered facial appearance (frontal bossing, prognathism), enlargement of the hands and feet[acromegaly.org]

  • 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] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[mps1disease.com]

  • 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] 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

    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] Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 7

    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] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[invitae.com] The child had coarse facial features, corneal clouding, depressed nasal bridge, large tongue and high arched palate with a 2-cm mouth opening [Figure 1].[joacp.org]

  • Launois Syndrome

    A 76-year-old female patient is presented who suffered from muscular weakness in arms and legs. She was obese and had a symmetric accumulation of fatty tissue with a bumpy structure at both arms which gave the patient a pseudoathletic appearance. Fatty tissue accumulations were present at both shoulders,[…][ncbi.nlm.nih.gov]

  • Alpha-Mannosidosis

    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] The typical signs consist of hearing impairment, intellectual disabilities, coarse facial features and motor function disturbances.[ncbi.nlm.nih.gov]

  • 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] 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] Other symptoms may include delayed puberty ; double vision or difficulty with side (peripheral) vision; prominent forehead ( frontal bossing ) and a prominent jaw; headache[rarediseases.info.nih.gov]

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