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Results 1 - 10 of 1,285 for malformations
  1. Capillary malformation-arteriovenous malformation syndrome 
    Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  2. Cerebral cavernous malformation 
    Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries ...
    https://medlineplus.gov/.../cerebral-cavernous-malformation - Genetics
  3. Microcephaly-capillary malformation syndrome 
    Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  4. Megalencephaly-capillary malformation syndrome 
    Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain ( ...
    https://medlineplus.gov/...encephaly-capillary-malformation-syndrome - Genetics
  5. Multiple cutaneous and mucosal venous malformations 
    Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of ...
    https://medlineplus.gov/...utaneous-and-mucosal-venous-malformations - Genetics
  6. Dandy-Walker malformation 
    Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  7. Aicardi syndrome 
    ... People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the ... people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  8. Holt-Oram syndrome 
    Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  9. Genitopatellar syndrome 
    ... syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.The genital ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  10. Schwartz-Jampel syndrome 
    ... characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of ... chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
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