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Results 41 - 50 of 71 for Multiple skeletal anomalies
  1. COG4 gene 
    ... condition characterized by short stature (dwarfism) and other skeletal abnormalities. The mutations change single DNA building blocks (nucleotides) ...
    https://medlineplus.gov/genetics/gene/cog4 - Genetics
  2. PIK3CA gene 
    ... congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) syndrome. Hemimegalencephaly is characterized by enlargement of ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  3. TGFBR1 gene 
    ... Loeys-Dietz syndrome is characterized by blood vessel abnormalities and skeletal deformities. The TGFBR1 gene mutations that cause Loeys- ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  4. EMD gene 
    ... a lack of this protein leads to the skeletal and cardiac muscle abnormalities characteristic of Emery-Dreifuss muscular dystrophy. Studies suggest, ...
    https://medlineplus.gov/genetics/gene/emd - Genetics
  5. Congenital dyserythropoietic anemia 
    ... CDA, individuals with CDA type I can have skeletal issues, including short stature or abnormalities of the fingers or toes. The anemia associated ... lead to a cancer of white blood cells (multiple myeloma). Some people with ... III have eye abnormalities that can cause vision impairment. CDA type IV ...
    https://medlineplus.gov/.../congenital-dyserythropoietic-anemia - Genetics
  6. Multiple epiphyseal dysplasia 
    ... formation of abnormal cartilage, which can cause the skeletal problems characteristic of dominant multiple epiphyseal dysplasia.The COL9A1, COL9A2, and COL9A3 genes ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  7. Multiple pterygium syndrome 
    ... Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  8. Hajdu-Cheney syndrome 
    ... recurrent infections in childhood; heart defects; and kidney abnormalities such as the growth of multiple fluid-filled cysts (polycystic kidneys). Some people with ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  9. Chromosome 8 
    ... and right halves of the brain (corpus callosum), skeletal defects, heart problems, kidney and liver malformations, and facial abnormalities. Trisomy 8 mosaicism is also associated with an ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  10. LBR gene 
    ... nuclei of blood cells called granulocytes normally have multiple segments (or lobes). In contrast, the nuclei of granulocytes in people with Pelger-Huët anomaly have fewer segments than normal (they are hypolobulated). ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
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