Specific Birth Defects and Other Health Conditions

For Everyone

At a glance

  • Major birth defects are structural changes in one or more parts of the body.
  • They are present at birth.
  • They can have a serious, adverse effect on the health, development, or functional ability of the baby.
Baby with cleft lip in warm clothes

Information about specific birth defects

Illustration of infant with anencephaly.
Anencephaly
Anencephaly is a birth defect in which a baby is born without parts of the brain and skull.
Illustration of two babies with anophthalmia. One baby is missing one eye and the other baby has microphthalmia, where one eye is very small.
Anophthalmia/Microphthalmia
Anophthalmia and microphthalmia are birth defects of a baby's eye(s).
Illustration of infant with anotia: no external ear.
Anotia/Microtia
Anotia and microtia are birth defects of a baby's ear.
Illustration of infant with a cleft lip
Cleft Lip/Cleft Palate
Cleft lip and palate are birth defects that occur when a baby's lip or mouth don't form properly.
Human heart with blood vessels
Specific Congenital Heart Defects
Find information on different types of congenital heart defects.
Illustration of Infant with Unilateral (one-sided) Coronal Craniosynostosis
Craniosynostosis
Craniosynostosis is a birth defect in which the bones in a baby's skull join together too early.
Hand of newborn with hospital bracelet.
Diaphragmatic Hernia
Diaphragmatic hernia is a birth defect where there is a hole in the diaphragm.
Happy toddler with Down syndome.
Down Syndrome
Down syndrome is a condition in which a person has an extra chromosome 21.
Illustration of infant with occipital encephalocele.
Encephalocele
Encephalocele is a sac-like protrusion of the brain through an opening in the skull.
Newborn in hospital with monitors and breathing tube.
Esophageal Atresia
Esophageal atresia is a birth defect of the tube (esophagus) that connects the mouth to the stomach.
Medical illustration of an infant with gastroschisis.
Gastroschisis
Gastroschisis is a birth defect where there is a hole in the abdominal wall beside the belly button.
Young baby laying asleep on a white blanket.
Hypospadias
Hypospadias is a birth defect where the opening of the urethra isn't at the tip of the penis.
Illustration of infant with upper and lower reduction defects.
Limb Reduction Defects
Limb reduction defects occur when a part of or the entire arm or leg fails to form completely.
Illustration of baby with microcephaly, with a dotted outline showing the shape of a typical sized head for comparison.
Microcephaly
Microcephaly is a birth defect where a baby's head is smaller than expected.
Illustration of infant with spina bifida.
Neural Tube Defects
Neural tube defects are severe birth defects of the brain and spine.
Illustration of infant with omphalocele.
Omphalocele
Omphalocele is a birth defect of the abdominal (belly) wall.
Boy with spina bifida walking with assistance
About Spina Bifida
Spina bifida is a condition that affects the spine and is usually apparent at birth.
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Content Source
National Center on Birth Defects and Developmental Disabilities
About this page
Published: May 15, 2024
Updated: November 6, 2026

This page was last updated on this date. Updates may include minor edits, image changes, or other modifications to page content.

Reviewed: November 10, 2025

The information on this page was last reviewed by subject matter experts to ensure accuracy.