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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.[] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[]

  • Mucopolysaccharidosis 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[] Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[]

  • 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.[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] 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[]

  • Mucopolysaccharidosis 6

    Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[] 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[]

  • Mucopolysaccharidosis 1H

    In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[] […] 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[] Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth ceases.[]

  • 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[] The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[] Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24 , 16–21.[]

  • Mucopolysaccharidosis 4

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

  • Mucolipidosis

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

  • Dyggve-Melchior-Clausen Syndrome

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

  • 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[…][]

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