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Some minor anomalies may be clues to more significant internal abnormalities. [citation needed] Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability.
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. [7] A congenital heart defect is classed as a cardiovascular disease. [10]
Ebstein's anomaly; Ectopia cordis; Encephalocele; Endocardial cushion defect; Esophageal atresia; Exstrophy of the bladder; Fetal alcohol syndrome; First arch syndrome; Focal femoral hypoplasia; Gastrointestinal atresia; Gastroschisis; Holoprosencephaly; Hydranencephaly; Hydronephrosis; Hydrops fetalis; Hypoplastic left heart syndrome ...
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus, in which cases emergency surgery is indicated. [1]
In comparison to 0.8% of the general population, offspring of women with tetralogy have a 3–5% chance of developing congenital cardiac disease. If the 22q11 deletion is present, there is a 50% chance of transferring the damaged chromosome, with a high risk of a congenital cardiac abnormality. [72]