Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 31 - 40 of 181 for Abnormality of limbs
  1. KCNJ2 gene 
    ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  2. Andersen-Tawil syndrome 
    ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  3. Spastic paraplegia type 15 
    ... hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  4. Poland syndrome 
    ... signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder. ...
    https://medlineplus.gov/genetics/condition/poland-syndrome - Genetics
  5. 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
  6. 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
  7. Blepharocheilodontic syndrome 
    ... affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida. BCD syndrome is a ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  8. ROR2 gene 
    ... formation of bones in the face, spine, and limbs. These changes lead to the skeletal abnormalities characteristic of Robinow syndrome. A lack of this ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  9. Alpers-Huttenlocher syndrome 
    ... involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a pattern of movement abnormalities known as parkinsonism.Affected individuals may have other ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  10. Frontometaphyseal dysplasia 
    ... People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.Characteristic facial features ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next