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Results 1 - 7 of 7 for Carpal bone aplasia
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  1. Holt-Oram syndrome 
    ... one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by x-ray. Individuals ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  2. Spondylocarpotarsal synostosis syndrome 
    ... side (scoliosis).People with spondylocarpotarsal synostosis syndrome have abnormalities and fusion of the bones of the wrist (carpal bones) and ankle (tarsal bones). They may also ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics
  3. Mucopolysaccharidosis type VII 
    ... an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly- ... with this condition.MPS VII causes various skeletal abnormalities that become more pronounced with age, including short ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  4. Mucopolysaccharidosis type II 
    ... many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to abnormalities in the heart's rhythm (arrhythmia) and heart ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  5. COL1A1 gene 
    ... and excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the jawbone, collarbones (clavicles), and the ... blood vessel and organ rupture, and the other abnormalities that can occur with the classical and vascular ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  6. COL11A1 gene 
    ... disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis ... this condition include a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  7. Acromicric dysplasia 
    ... active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics