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Results 1 - 10 of 36 for Congenital heart defects skeletal malformations syndrome
  1. Holt-Oram syndrome 
    ... PubMed Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. doi: 10.1097/00001573-200405000-00004. Citation on PubMed
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  2. CHOPS syndrome 
    ... involving multiple abnormalities that are present from birth (congenital). The ... syndrome have intellectual disability and delayed development of skills ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  3. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). ... with CHOPS syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  4. Pallister-Killian mosaic syndrome 
    ... in life.Additional features of Pallister-Killian mosaic syndrome can include ... are born with a congenital diaphragmatic hernia, which is a hole in the ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  5. FKTN gene 
    ... Warburg syndrome have more severe brain and eye abnormalities and live only into ... congenital muscular dystrophy (described above), which is mostly limited ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  6. FBN1 gene 
    ... microfibrils weaken connective tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  7. Noonan syndrome 
    ... characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People with Noonan syndrome have distinctive facial features such as a deep ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  8. Congenital contractural arachnodactyly 
    ... typically not shortened.A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  9. FKRP gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  10. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). People with MRKH syndrome type 2 may also have hearing loss or heart defects. MRKH syndrome affects approximately 1 in 4, ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
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