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Results 21 - 30 of 43 for Multiple skeletal anomalies
  1. Jacobsen syndrome 
    ... short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  2. Potocki-Shaffer syndrome 
    ... commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  3. Neurofibromatosis type 1 
    ... short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine ( ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. Mitochondrial complex III deficiency 
    ... intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  9. Malignant hyperthermia 
    ... the drugs, the body's reaction can cause multiple organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  10. Trichorhinophalangeal syndrome type I 
    ... that control the growth of bone and other skeletal tissues.TRPS1 gene ... abnormalities, distinctive facial features, and other signs and symptoms ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
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