Birth defects are health conditions that are present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works. There are thousands of different birth defects. About 120,000 babies in the United States are born each year with a birth defect.

The most common birth defects are:

While there has been lots of research in the field, we still don’t know the cause of many birth defects. The following is a list of potential causes:

List of Birth Defects

  • Achondroplasia
  • Aglossia: A baby born with aglossia is born without a tongue. This abnormality is common among people who have congenital and developmental problems.
  • Albinism: A disorder that involves the absence of melanin is called albinism. It can occur either as a total lack or partial lack of melanin pigment in skin, eyes, and hair. Babies with this birth defect develop visual difficulties like sensitivity to bright lights and glow.
  • Ambras Syndrome
  • Amniotic band syndrome
  • Anencephaly: Another congenital defect, anencephaly is characterized by the absence of the spinal cord and the brain as well. This occurs due to a neural tube defect, in which a baby is born without the forebrain. In majority cases, it is a fatal birth defect. Till date, there is no cure or a treatment for this birth defect.
  • Aniridia: Aniridia is a visionary defect in babies, in which a baby is born without an iris at the time of his birth. This is linked with poor development either in the retina of the eye or its back, which hampers normal vision development.
  • Anophthalmos / Microphthalmos: It is a congenital absence of one eye or both eyes in a baby.
  • Anorectal atresia/stenosis
  • Anotia / Microtia: It is a genetic disorder which means the absence of one or both the ears in babies.
  • Arhinencephaly / Holoprosencephaly: This is a major birth defect in which an abnormal development of the budding nervous system takes place. It develops another head at the end of a baby's body.
  • Autism Spectrum Disorders (ASD): It is a kind of pervasive developmental disorder affecting verbal and non-verbal communication.
  • Bloom Syndrome
  • Brachydactyly: This is an abnormal condition in which a baby develops short fingers.
  • Cerebral Palsy: 
  • Achromatopsia: Color blindness is another word for this disorder. It is a visual defect in which colorless objects appear with a tinge of color.
  • Cleft foot and hand: This is a very rare abnormality that comes with a split or a lobster foot and hand. In this birth defect, single cleft can extend into the hand and the foot and it occurs in the relation with clawing of baby's hands.
  • Cleft lip with or without cleft palate
  • Cleft palate without cleft lip
  • Club Foot: This is a congenital abnormality in which one foot is twisted down. There is no treatment for this defect which is why the patients suffering from clubfoot are forced to walk either on their ankles or on the side parts of their feet.
  • Coarctation of aorta
  • Congenital heart defect
  • Craniopagus parasiticus
  • Cyclopia
  • Cystic fibrosis
  • Cystic kidney
  • Diaphragmatic hernia
  • Down syndrome: An extra chromosome in a baby leads to mental retardation. Down syndrome is the most common birth defect.
  • Dwarnian ear: It involves deformity on the helix part of the baby's ear.
  • Fetal alcohol syndrome
  • Fetus in fetu: One fetus inside a body of another fetus or person
  • Fibrodysplasia ossificans progressiva
  • Fragile X syndrome
  • Fused limbs
  • Gastroschisis
  • Heterochromia: This is an optical condition of a baby, in which one iris is different colored than the other iris.
  • Hydrocephaly: Babies that develop hydrocephaly have an unexplained abnormal accumulation of cerebrospinal fluid in the cavities of their brain, which causes mental disability and can even lead to death.
  • Hypoplastic left heart syndrome
  • Hypospadias
  • Indeterminate sex
  • Jewish Genetic Diseases
  • Limb reduction defects
  • Marfan syndrome
  • Neural tube defects
  • Neurofibromatosis
  • Oesophageal atresia/stenosis with or without fistula
  • Omphalocele
  • PKU Phenylketonuria
  • Polydactyly: It is a birth defect, in which a baby is born with additional fingers and toes. Generally harmless, polydactyly can be treated surgically among infants.
  • Progeria
  • Renal Agenesis
  • Rh disease
  • Siamese Twins
  • Sickle cell disease
  • Small intestine atresia/stenosis
  • Spina bifida: Spina bifida is a minor birth defect that is caused due to incomplete closure of the embryonic neural tube, which creates a split gap in the vertebrae.
  • Tay Sachs and Sandhoff diseases
  • Tetralogy of Fallot: It is a congenital heart disorder in which four anatomical abnormalities are present in the baby's heart.
  • Thalassemia
  • Transposition of Great Vessels: It is a congenital heart disorder that leads to an abnormal arrangement of any of the blood vessels.
  • Trisomy 13: Patau Syndrome
  • Trisomy 18: Edward Syndrome
  • Vestigial Tail