Congenital abnormalities

Congenital abnormalities or congenital defects, are diseases and disorders that are present at birth which can be caused by genes, environmental factors, chemicals such as thalidomide, lack of proper nutrition such as deficiency of folic acid leading to neural tube defects, or infections such as Zika virus.

Depiction of a child with Congenital Heart Disease

Incidence

Birth defects are common, costly, and critical conditions that affect 1 in every 33 babies born in the United States each year, according to the Centers for Disease Control and Prevention (CDC)

What are birth defects?

Birth defects are structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot). They may affect how the body looks, works, or both. Birth defects can vary from mild to severe. The well-being of each child affected with a birth defect depends mostly on which organ or body part is involved and how much it is affected. Depending on the severity of the defect and what body part is affected, the expected lifespan of a person with a birth defect may or may not be affected.

Congenital hallux varus

Identifying Birth Defects

A birth defect can be found before birth, at birth, or any time after birth. Most birth defects are found within the first year of life. Some birth defects (such as cleft lip) are easy to see, but others (such as heart defects or hearing loss) are found using special tests, such as echocardiograms (an ultrasound picture of the heart), x-rays or hearing tests.

Causes

Birth defects can occur during any stage of pregnancy. Most birth defects occur in the first 3 months of pregnancy, when the organs of the baby are forming. This is a very important stage of development. However, some birth defects occur later in pregnancy. During the last six months of pregnancy, the tissues and organs continue to grow and develop.

(Noninvoluting congenital hemangioma) (NICH)

For some birth defects, like fetal alcohol syndrome, we know the cause. But for most birth defects, we don’t know what causes them. For most birth defects, we think they are caused by a complex mix of factors. These factors include our genes (information inherited from our parents), our behaviors, and things in the environment. But, we don’t fully understand how these factors might work together to cause birth defects.

Risk factors

While we still have more work to do, we have learned a lot about birth defects through past research. For example, some things might increase the chances of having a baby with a birth defect, such as:

Smoking, drinking alcohol, or taking certain “street” drugs during pregnancy.

• Having certain medical conditions, such as being obese or having uncontrolled diabetes before and during pregnancy.
• Taking certain medications, such as isotretinoin (a drug used to treat severe acne).
• Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a clinical geneticist or a genetic counselor.
• Being an older mother, typically over the age of 34 years.
• Having one or more of these risks doesn’t mean you’ll have a pregnancy affected by a birth defect. Also, women can have a baby born with a birth defect even when they don’t have any of these risks. It is important to talk to your doctor about what you can do to lower your risk.

Giant congenital melanocytic nevus

Prevention

Not all birth defects can be prevented. But, there are things that a woman can do before and during pregnancy to increase her chance of having a healthy baby:

• Be sure to see your healthcare provider regularly and start prenatal care as soon as you think you might be pregnant.
• Get 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant.
• Don’t drink alcohol or smoke.
• Talk to a healthcare provider about any medications you are taking or thinking about taking. This includes prescription and over-the-counter medications and dietary or herbal supplements. Don’t stop or start taking any type of medication without first talking with a doctor.
• If possible, be sure any medical conditions are under control, before becoming pregnant. Some conditions that increase the risk for birth defects include diabetes and obesity.

Indonesian child suffering from a congenital heart abnormality

List of congenital abnormalities

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

0-9

• 1q21.1 copy number variations

• 1q21.1 deletion syndrome

A

• Aagenaes syndrome

• Aarskog–Scott syndrome

• Achondrogenesis

• Achondrogenesis type 1B

• Achondrogenesis type 2

• Achondroplasia in children

• Acrodysostosis

• Agenesis

• Alcohol and pregnancy

• Amyoplasia

• Animal chimerism

• Anorectal anomalies

• Arachnoid cyst

• Archibald's sign

• Arterial calcification due to CD73 deficiency

• Asplenia with cardiovascular anomalies

• Atransferrinemia

• Ayazi syndrome

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

B

Trisomie 21 (Down's syndrome)

• Bangstad syndrome

• Barakat syndrome

• Bartter syndrome

• Benjamin syndrome

• Bhaskar–Jagannathan syndrome

• Birth defect

• Boomerang dysplasia

• Bosch-Boonstra-Schaaf optic atrophy syndrome

• Bowen–Conradi syndrome

• Brugada syndrome

• Burnside-Butler syndrome

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

C

• CAMFAK syndrome

• CANDLE syndrome

• CHERUBS

• Camptodactyly

• Cat eye syndrome

• Caudal duplication

• Caudal regression syndrome

• Char syndrome

• Cleft palate incidence by population

• Clitoridectomy

• Congenital afibrinogenemia

• Congenital fiber type disproportion

• Congenital hypofibrinogenemia

• Congenital iodine deficiency syndrome

• Congenital malaria

• Congenital nephrotic syndrome

• Congenital rubella syndrome

• Constriction ring syndrome

• Crandall syndrome

• Craniofacial cleft

• Craniopagus parasiticus

• Cyclopia

• Cystic hygroma

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

D

• D-glycerate dehydrogenase deficiency

• Denis Browne bar

• Diprosopus

• Dipygus

• Dopamine-responsive dystonia

• Duane syndrome

• Dyskeratosis congenita

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

E

• Ectopic pancreas

• Ehlers–Danlos syndromes

• Endocardial fibroelastosis

• Ethmocephaly

F

• Facial femoral syndrome

• Factor I deficiency

• Familial male-limited precocious puberty

• Femur fibula ulna syndrome

• Fetal trimethadione syndrome

• Fetus in fetu

• Fibro-adipose vascular anomaly

• Fibrochondrogenesis

• Fibrodysplasia ossificans progressiva

• First arch syndrome

• Fleischer's syndrome

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

G

• Genitoplasty

• Goldberg–Shprintzen syndrome

• Goldenhar syndrome

H

• Hajdu–Cheney syndrome

• Halal syndrome

• Hearing loss with craniofacial syndromes

• Hemifacial hypertrophy

• Hemifacial microsomia

• Heterotopia (medicine)

• Holt–Oram syndrome

• Ho–Kaufman–Mcalister syndrome

• Hydrolethalus syndrome

• Hypotransferrinemia

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

I-K

• Immunodeficiency 26

• Isodisomy

• Isolated congenital asplenia

• Juberg-Hayward syndrome

• Katz syndrome

• Kaufman oculocerebrofacial syndrome

• Keutel syndrome

• Kniest dysplasia

• Kvikk case

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

L-M

• Langer mesomelic dysplasia

• Laryngeal cleft

• Late congenital syphilitic oculopathy

• List of congenital disorders

• MDP syndrome

• MORM syndrome

• MURCS association

• Majewski's polydactyly syndrome

• Malformative syndrome

• Malouf syndrome

• Malpuech facial clefting syndrome

• Marden–Walker syndrome

• Marfanoid

• Marinesco–Sjögren syndrome

• Mature teratoma

• Maturity onset diabetes of the young

• McCune–Albright syndrome

• Meningohydroencephalocoele

• Meromelia

• Michels syndrome

• Miller–Dieker syndrome

• Minor physical anomalies

• Monstrous birth

• Muenke syndrome

• Mulibrey nanism

• Multiple abnormalities

• Muscle–eye–brain disease

• Myelokathexis

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

N-O

• Nager acrofacial dysostosis

• Nakajo syndrome

• Nasodigitoacoustic syndrome

• Neonatal teeth

• Neurocristopathy

• Neurocutaneous melanosis

• Neuronal ceroid lipofuscinosis

• Neu–Laxova syndrome

• Niemann–Pick disease

• Norman–Roberts syndrome

• Oculoauricular syndrome

• Opsismodysplasia

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

P-Q

• Orofaciodigital syndrome 1

• Osteochondroprogenitor cell

• Palatal obturator

• Papillary fibroelastoma

• Parasitic twin

• Parastremmatic dwarfism

• Patterson syndrome

• Pelvic digit

• Persistent cloaca

• Pfeiffer syndrome

• Pilotto syndrome

• Polymelia

• Ponseti method

• Porencephaly

• Potocki–Lupski syndrome

• Potocki–Shaffer syndrome

• Prader–Willi syndrome

• Primary congenital lymphedema

• Proboscis (anomaly)

• Progressive familial intrahepatic cholestasis

• Proteus syndrome

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

R-S

• RIDDLE syndrome

• Radioulnar synostosis

• Renal dysplasia-limb defects syndrome

• Renal–hepatic–pancreatic dysplasia

• Ring chromosome 14 syndrome

• Ring chromosome 15

• Rosselli–Gulienetti syndrome

• Rubinstein–Taybi syndrome

• Rudiger syndrome

• SHORT syndrome

• Sacral agenesis

• Sacral dimple

• Sacrococcygeal teratoma

• Saethre–Chotzen syndrome

• Seckel syndrome

• Senior–Løken syndrome

• Sepiapterin reductase deficiency

• Sequence (medicine)

• Shprintzen–Goldberg syndrome

• Simpson–Golabi–Behmel syndrome

• Sirenomelia

• Situs ambiguus

• Situs inversus

• Smith–Fineman–Myers syndrome

• Snyder–Robinson syndrome

• Spondyloepimetaphyseal dysplasia

• Spondyloepimetaphyseal dysplasia, Strudwick type

• Spondyloperipheral dysplasia

• Status marmoratus

• Structural variation

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

T-U

• TORCH syndrome

• Tay–Sachs disease

• Teratoma

• Tetra-amelia syndrome

• Thumb hypoplasia

• Toxocara malayasiensis

• Transient myeloproliferative disease

• Transposition (birth defect)

• Trichothiodystrophy

• Triphalangeal thumb

• Triple-A syndrome

• Triploid syndrome

• Ulas family

• Ulnar dimelia

• Umbilical cord ulceration and intestinal atresia

• Urofacial syndrome

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

V-Z

• VACTERL association

• Vaginal anomalies

• Vaginal septum

• Van der Woude syndrome

• Velopharyngeal inadequacy

• Vestigial twin

• Vici syndrome

• Waardenburg Syndrome Type 1

• Walker–Warburg syndrome

• Weaver syndrome

• Weissenbacher–Zweymüller syndrome

• Wilson–Turner syndrome

• Worth syndrome

• XX male syndrome

• Young–Simpson syndrome

• Zadik–Barak–Levin syndrome

• Zamzam–Sheriff–Phillips syndrome

Congenital abnormalities Resources
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