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1,701 Possible Causes for Bone Fragility, Sloping Shoulders, Urine Hyaluronic Acid Increased

  • Cleidocranial Dysplasia

    […] mineral density Increased bone density 0011001 Increased susceptibility to fractures Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone[rarediseases.info.nih.gov] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Osteoporosis

    Fractures associated with bone fragility are frequent, particularly in elderly women.[english.prescrire.org] If this happens, you may get any or all of these symptoms: Sloping shoulders Curve in the back Height loss Back pain Hunched posture What causes osteoporosis?[womenshealth.gov] In conclusion, hemizygous mutations in PLS3 are associated with osteoporosis and bone fragility in childhood, but in contrast to bone fragility caused by mutations in collagen[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com] In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus[ncbi.nlm.nih.gov]

    Missing: Bone Fragility
  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] Fragility Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypogonadism with Low-Grade Mental Deficiency and Microcephaly hypogonadotropic[rgd.mcw.edu] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

    Missing: Urine Hyaluronic Acid Increased
  • Duchenne Muscular Dystrophy

    Although cortisone therapy in Duchenne muscular dystrophy does not seem to increase bone fragility or the general risk of fractures, it does increase the risk of vertebral[socialstyrelsen.se] However, these medicines have side effects such as weight gain, facial changes, loss of linear (height) growth, and bone fragility that can be especially troubling in children[web.archive.org] Long‐bone fractures were documented in 25% of boys in both groups, with no difference between groups.[doi.org]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased
  • Craniofacial Dysplasia-Osteopenia Syndrome

    […] mineral density Increased bone density 0011001 Increased susceptibility to fractures Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone[rarediseases.info.nih.gov] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org] People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile.[ghr.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Muscular Dystrophy

    However, these medicines have side effects such as weight gain, facial changes, loss of linear (height) growth, and bone fragility that can be especially troubling in children[web.archive.org] […] muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[web.archive.org] […] level Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Scoliosis

    Because of their small size and fragile bones, children ages 1 to 4 do not do well with rod placement and may instead be placed in body casts that are changed every few months[pennlive.com] ", that is an inclination of the entire brace above the apical vertebra of the thoracic curve opposite to the proximal slope, together with an advancement of the shoulder[scoliosisjournal.com] Fragile-X syndrome is one of the most common inherited forms of mental retardation.[doi.org]

    Missing: Urine Hyaluronic Acid Increased
  • Blue Sclera

    Triad of blue sclera, fragile bones and early deafness. Most common genetic cause of osteoporosis.[dailyrounds.org] shoulders, and mild intellectual disability (summary by Pohl et al., 2013).[ncbi.nlm.nih.gov] The hereditary disorder osteogenesis imperfecta—commonly known as brittle bone disease—is characterized by excessive fragility of bones and weakness of tissues rich in type[consultant360.com]

    Missing: Urine Hyaluronic Acid Increased
  • Osteogenesis Imperfecta

    Until recently, only one report of a boy with an Sp7/Osx pathogenic variant presenting with bone fragility, limb deformities and normal hearing has been described in the literature[ncbi.nlm.nih.gov] These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable[ncbi.nlm.nih.gov] KEYWORDS: Atypical fracture; Blue sclerae; Bone fragility; Collagen; Zebra sign[ncbi.nlm.nih.gov]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased

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