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Birth Defects List

Birth Defects List

A birth or congenital defect refers to the deformity a child is born with. Through the following article let us take a look at the facts and examples of birth defects.
Avanika Mote
Last Updated: Apr 22, 2018
There are several causes of birth defects that involve a wide range of factors. Usually, these defects may occur due to hereditary abnormality, chromosomal disorders or genetic disorders. But, today with the advancement in medical technology, certain traits and signs of birth defects can be detected by doctors right at the time of fertilization. Common defects can be treated conveniently, whereas treatments and medicines for rare defects are still in the developmental stages. Congenital defects are medically defined as abnormalities in structure, function or body metabolism that are present at the time of birth. Most of the congenital defects can affect the fetus during the first three months of pregnancy. Many parents think that inborn defects are fatal - but this is a myth. There are some defects that can be treated immediately after birth and sometimes even during pregnancy. Prenatal screening and care is an important step that might give clues about any defects, although it is not 100% reliable.

Facts About Birth Defects

Birth defects usually lead to mental or physical disabilities and can even be fatal. Doctors have found out that there are more than 4000 different known defects including minor, major and serious ones. American College of Obstetricians and Gynecologists says that in every 33 babies, 1 baby is born with a birth defect. There are over 150,000 number of babies born with congenital defects every year in the United States of America. These defects could be due to genetic, environmental, hereditary or unknown factors. Certain defects can also lead to miscarriage. Given below is the list of common and rare congenital defects.

Common Birth Defects

I wish all children in the whole world would be born congenitally healthy at the moment of birth and even after that. Many children, even in the most developed countries, are born each year with certain medical conditions that lead to disability at some point of time in the future or during their birth. In the United States, over 4 million children under 18 are categorized under disabled children due to certain defects they were born with. Let us take a look at the common congenital defects list.
  • 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.
  • 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.
  • Hydrocephaly: Babies that develop hydrpcephaly have an unexplained abnormal accumulation of cerebrospinal fluid in the cavities of their brain, which causes mental disability and can even lead to death.
  • Anophthalmos / Microphthalmos: It is a congenital absence of one eye or both eyes in a baby.
  • Anotia / Microtia: It is a genetic disorder which means absence of one or both the ears in babies.
  • Transposition of Great Vessels: It is a congenital heart disorder that leads to abnormal arrangement of any of the blood vessels.
  • Tetralogy of Fallot: It is a congenital heart disorder in which four anatomical abnormalities are present in the baby's heart.
  • Down syndrome: An extra chromosome in a baby leads to mental retardation. Down syndrome is the most common birth defect.
  • Cerebral Palsy: It develops in babies during their mother's pregnancy because of any injury to mother. This injury harms the baby's brain and may lead to mental retardation and sensory disabilities.
  • Autism: It is a kind of pervasive developmental disorder affecting verbal and non-verbal communication.
Rare Congenital Defects
  • 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 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.
  • Brachydactlia: This is an abnormal condition in which a baby develops short fingers.
  • 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.
  • 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.
  • Heterochromia: This is an optical condition of a baby, in which one iris is different colored than the other iris.
  • Dwarnian ear: It involves deformity on the helix part of the baby's ear.
  • Club Foot: This is a congenital abnormality in which one or both foot get twisted down. This deformity can be treated with the help of many surgical and non-surgical treatments.
  • Chromatelopsia: Color blindness is another word for this disorder. It is a visual defect in which colorless objects appear with a tinge of color.
  • Anencephaly: Another congenital defect, anencephaly is characterized by the absence of the spinal cord and the brain as well. This occurs due to 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.
  • Polydatyly: It is a birth defect, in which a baby is born with additional fingers and toes. Generally harmless, polydatyly can be treated surgically among infants.
List of Some Other Birth Defects
  • Siamese Twins
  • Fused limbs
  • Hypoplastic left heart syndrome
  • Coarctation of aorta
  • Cleft palate without cleft lip
  • Cleft lip with or without cleft palate
  • Oesophageal atresia / stenosis with or without fistula
  • Small intestine atresia / stenosis
  • Anorectal atresia / stenosis
  • Hypospadias
  • Indeterminate sex
  • Renal agenesis
  • Cystic kidney
  • Polydactyly, preaxial
  • Limb reduction defects
  • Diaphragmatic hernia
  • Omphalocele
  • Gastroschisis
  • Trisomy 13
  • Trisomy 18
  • Cyclopia
  • Bloom Syndrome
  • Ambras Syndrome
  • Craniopagus parasiticus
  • Fetus in Foetu
  • Vestigial Tail
  • Progeria
  • Fibrodysplasia ossificans progressiva
I hope this birth defects list proved to be informative for young parents and the other readers as well. Please take care and for the mothers-to-be, please do not consume or do anything that has the minutest chance of harming the baby inside you. Here's wishing you a safe pregnancy.