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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: [citation needed] Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year. About 7,000 babies are born with a cleft palate, cleft lip or both.
Down syndrome; E ... Heart disorders (Congenital heart defects) Hemifacial microsomia; ... List of ICD-9 codes 740–759: congenital anomalies;
758.0 Down syndrome; 758.1 Patau's syndrome; 758.2 Edward's syndrome; 758.3 Autosomal deletion syndromes 758.31 Cri du chat syndrome; 758.32 Velo-cardio-facial syndrome; 758.33 Other microdeletions. Miller–Dieker syndrome; Smith–Magenis syndrome; 758.4 Balanced autosomal translocation in normal individual; 758.5 Other conditions due to ...
[83] [12] About 1 in 100 newborns is diagnosed with a congential heart defect, of which 10% are diagnosed with TOF. [12] Genetically, it is most commonly associated with Down syndrome and DiGeorge syndrome. [5] [25] Down syndrome and other chromosomal disorders are known to occur alongside congential heart defects such as TOF. [12]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3] Many of those affected die before birth. [3] Some studies suggest that more babies that survive to birth are female. [2] Survival beyond a year of life is around 5 ...
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies , structural abnormalities, or neoplasms.