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Results 1 - 10 of 1,248 for "birth%defects"
  1. 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
  2. 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
  3. 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
  4. Opitz G/BBB syndrome 
    ... syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" ... box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  5. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.Males with ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  6. Burn-McKeown syndrome 
    ... that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.In people with Burn-McKeown ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  7. Snyder-Robinson syndrome 
    ... condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively ... reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys. Snyder-Robinson syndrome ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  8. Congenital anomalies of kidney and urinary tract 
    ... and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the ... and is present from birth (congenital), although the abnormality may not become apparent until later in life. ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  9. 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
  10. Craniofacial microsomia 
    ... a term used to describe a spectrum of abnormalities that primarily affect the development of the skull ( ... of cases, both sides of the face have abnormalities, which usually differ from one side to the ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
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