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Results 21 - 30 of 71 for Multiple skeletal anomalies
  1. 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
  2. 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
  3. COL2A1 gene 
    ... bones cannot develop properly, resulting in the severe skeletal abnormalities seen in infants with platyspondylic dysplasia, Torrance type. ... by disproportionate short stature, brachydactyly, platyspondyly, and other skeletal ... COL2A1 gene variants that cause spondyloperipheral dysplasia ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. 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
  5. 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
  6. 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
  7. LRP5 gene 
    ... conditions can cause abnormal bone growth and related skeletal abnormalities. Rarely, affected individuals have hearing loss or circulation ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  8. SLC26A2 gene 
    ... from developing and growing normally, causing the severe skeletal abnormalities seen in achondrogenesis type 1B. More About This ... The SLC26A2 gene mutations that result in recessive multiple epiphyseal ... skeletal disorders such as achondrogenesis type 1B (described above). ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  9. 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
  10. Chromosome 7 
    ... growth and development, intellectual disabilities, distinctive facial features, skeletal abnormalities, delayed speech, and other health problems. Changes in ...
    https://medlineplus.gov/genetics/chromosome/7 - Genetics
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