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507 Possible Causes for Coarse Facial Features, Skeletal Dysplasia

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] 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 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[symptoma.com] Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[genedx.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 2

    Skeletal manifestations in adults with MPS IIB may be only small carpal bones or mild dysplasia of the pelvis and femoral heads with premature osteoarthritis.[emedicine.medscape.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] 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 6

    Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[scholars.northwestern.edu] 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]

  • Mucopolysaccharidosis 1H

    In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[whonamedit.com] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org] Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth ceases.[ldnz.org.nz]

  • Congenital Hypothyroidism

    […] diagnoses of CH include isolating its symptoms from those of disorders such as: Goiter Biliary atresia Hypopituitarism Down syndrome Iodine Deficiency Pituitary dwarfism Skeletal[hxbenefit.com] 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] Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24 , 16–21.[link.springer.com]

  • Mucopolysaccharidosis 4

    Locations & Doctors Nemours is world-renowned for skeletal dysplasia diagnosis and treatment.[nemours.org] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] The major clinical symptoms associated with the Morquio syndromes are short-trunk dwarfism, spondyloepiphyseal (skeletal) dysplasia and fine corneal implants.[themedicalbiochemistrypage.org]

  • Mucolipidosis

    A radiologist with special expertise in skeletal dysplasias evaluated the radiographs.[ncbi.nlm.nih.gov] Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov] Hurler-like, coarse facial features and severe skeletal dysplasia may also be observed in ML type 2 patients.[symptoma.com]

  • Dyggve-Melchior-Clausen Syndrome

    BACKGROUND: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation.[ncbi.nlm.nih.gov] In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard[ncbi.nlm.nih.gov] Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID[ncbi.nlm.nih.gov]

  • Fragile X Syndrome

    Skip sharing on social media links Health care providers often use a blood sample to diagnose Fragile X. The health care provider will take a sample of blood and will send it to a laboratory, which will determine what form of the FMR1 gene is present. 1 Prenatal Testing (During Pregnancy) Pregnant women who have an[…][web.archive.org]

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