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Results 11 - 20 of 43 for Multiple skeletal anomalies
  1. X-linked spondyloepiphyseal dysplasia tarda 
    ... are disproportionately long compared to their height.Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper ...
    https://medlineplus.gov/...linked-spondyloepiphyseal-dysplasia-tarda - Genetics
  2. CHOPS syndrome 
    CHOPS syndrome is a disorder ... of skills such as sitting and walking. Characteristic facial features include ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  3. Apert syndrome 
    Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  4. Cytochrome P450 oxidoreductase deficiency 
    ... cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities.The severe form of cytochrome P450 oxidoreductase deficiency ... as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  5. Bannayan-Riley-Ruvalcaba syndrome 
    ... multinodular goiter, or a condition called Hashimoto thyroiditis. Skeletal abnormalities have also been described with this condition, including ... such as macrocephaly, developmental delay, and muscle and skeletal abnormalities.When Bannayan-Riley-Ruvalcaba syndrome is not caused ...
    https://medlineplus.gov/.../bannayan-riley-ruvalcaba-syndrome - Genetics
  6. X-linked chondrodysplasia punctata 2 
    ... in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  7. Mucopolysaccharidosis type IV 
    ... apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
  8. Wolf-Hirschhorn syndrome 
    ... skin changes, such as mottled or dry skin; skeletal abnormalities, such as abnormal curvature of the spine (scoliosis ... result in more severe intellectual disability and physical abnormalities than ... related to the loss of multiple genes on the short arm of chromosome 4. ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics
  9. Gnathodiaphyseal dysplasia 
    ... to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth. ... type Genetic Testing Registry: ...
    https://medlineplus.gov/.../condition/gnathodiaphyseal-dysplasia - Genetics
  10. Potocki-Lupski syndrome 
    ... can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
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