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Results 1 - 10 of 18 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. 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
  4. 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
  5. 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
  6. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae), can occur in those with MRKH syndrome type 2. MRKH syndrome affects approximately 1 in ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
  7. Myhre syndrome 
    ... and symptoms of Myhre syndrome include short stature, skeletal abnormalities, ... beginning before birth and continuing through adolescence. Affected ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  8. Shwachman-Diamond syndrome 
    ... life-threatening problems with breathing. The combination of skeletal ... liver, heart, endocrine system (which produces hormones), eyes, teeth, and ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  9. Cantú syndrome 
    ... have also been found in people with Cantú syndrome, including an abnormal buildup ... skeletal abnormalities, a large body size (macrosomia) at birth, a ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  10. CHST3-related skeletal dysplasia 
    ... knees, hips, and elbows, are present at birth (congenital). Other bone and ... joints; however, minor heart defects have been reported in a few affected ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
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