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Results 1 - 10 of 77 for Abnormality of limb bone
  1. Atelosteogenesis type 3 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
  2. Atelosteogenesis type 1 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  3. Boomerang dysplasia 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  4. Holt-Oram syndrome 
    ... both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  5. Spondyloenchondrodysplasia with immune dysregulation 
    ... individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  6. Roberts syndrome 
    ... syndrome.Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  7. FGFR1 gene 
    ... the arms and legs, leading to the craniofacial abnormalities and shortened limbs seen in people with osteoglophonic dysplasia. This overactive FGFR1 protein can also increase the release (secretion) of a bone hormone called FGF23, resulting in abnormally high amounts ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  8. Hypophosphatasia 
    ... Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. ...
    https://medlineplus.gov/genetics/condition/hypophosphatasia - Genetics
  9. Cranioectodermal dysplasia 
    ... the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  10. PITX1 gene 
    ... gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) and absence or severe shortening of a bone in the lower leg called the tibia (tibial ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
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