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Results 1 - 10 of 1,290 for birth defects
  1. Trisomy 18 
    ... CA, Collins JS, Kirby RS, Correa A; National Birth Defects Prevention Network. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  2. Heterotaxy syndrome 
    ... meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and ... M, Geva T, Getz KD, Botto LD; National Birth Defects Prevention Study. Laterality defects in the national birth ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  3. 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
  4. Pallister-Killian mosaic syndrome 
    ... areas of unusual skin coloring (pigmentation), and other birth defects.Most babies with Pallister-Killian mosaic syndrome are ... the chest cavity (the diaphragm). This potentially serious birth defect allows the stomach and intestines to move into ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  5. 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
  6. X-linked chondrodysplasia punctata 2 
    ... delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males. ... both before and after birth. It is a structural component of cell membranes ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  7. Dandy-Walker malformation 
    ... exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of ... KM, Carey JC, Byrne JL, Feldkamp ML; National Birth Defects Prevention Study. Risk factors for Dandy-Walker malformation: ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  8. Microphthalmia 
    ... as rubella, or exposure to substances that cause birth defects (teratogens). BCOR GDF3 GDF6 OTX2 PAX6 SHH SOX2 ... parents of affected individuals have less severe eye abnormalities.When microphthalmia occurs as a feature of a ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  9. 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
  10. Nonsyndromic holoprosencephaly 
    ... genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
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