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Serious Medicine. Extraordinary Care.

Birth Defects and Genetic Disorders

  • Anorectal Malformation
    An anorectal malformation is a birth defect in which the anus and rectum do not develop properly.
  • Cleft Lip/Cleft Palate
    Detailed information on craniofacial anomalies, including cleft lip and cleft palate
  • Clubfoot
    Detailed information on clubfoot, including causes, risk factors, diagnosis, treatment, and cast care
  • Developmental Dysplasia of the Hip (DDH)
    Detailed information on developmental dysplasia of the hip, including causes, symptoms, risk factors, diagnosis, treatment, and cast care
  • Diaphragmatic Hernia
    A diaphragmatic hernia is a birth defect in which an opening is present in the diaphragm. Some of the organs that are normally found in the abdomen move up into the chest cavity through this abnormal opening.
  • Down Syndrome (Trisomy 21)
    Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects.
  • Hernia (Umbilical/Inguinal)
    A hernia occurs when a section of intestine protrudes through a weakness in the abdominal muscles. In babies, this usually occurs around the navel or in the groin area.
  • Hydrocephalus
    Hydrocephalus is a condition in which a buildup of fluid in the brain causes the pressure inside of the head to increase and the skull bones to expand to a larger-than-normal appearance.
  • Hypospadias
    Hypospadias is a disorder in newborn boys in which the opening of the urethra is not located at the tip of the penis.
  • Omphalocele
    An infant with an omphalocele has a portion of the abdominal organs protruding through an opening in the muscles near the umbilical cord.
  • Overview of Birth Defects
    A "birth defect" is a health problem or physical change that is present in a baby at the time he/she is born.
  • Pyloric Stenosis
    Pyloric stenosis is a problem that affects babies between 2 and 8 weeks of age and causes forceful vomiting that can lead to dehydration.
  • Spina Bifida
    Spina bifida can occur in the early weeks of pregnancy, before you even know you are expecting. That’s why your baby is depending on you to have healthy habits in place from the start. Learn more about the prevention and treatment of this birth defect.
  • Trisomy 18 and 13
    Trisomy 18 and trisomy 13 are genetic disorders that present a combination of birth defects including severe mental retardation, as well as health problems involving nearly every organ system in the body.
  • Turner Syndrome
    Turner syndrome is a genetic disorder seen in girls that causes them to be shorter than others and to not mature sexually as they grow into adulthood.