Tetrasomy 18p - Clinical Description - Congenital Anomalies

Congenital Anomalies

Cardiac anomalies are the most common congenital malformation in individuals with tetrasomy 18p. However, there is no pathognomatic heart defect associated with the condition. Patent ductus arteriosus is the most common defect. Septal defects (ventricular septal defects and atrial septal defects) are also common, as are patent foramina ovalia. Other cardiac anomalies, including mitral valve regurgitation; mitral valve prolapse; bicuspid pulmonary valve; hypoplastic transverse aortic arch; tricuspid valve regurgitation; right ventricular hypertrophy; and pulmonic stenosis.

In males, cryptorchidism is common. Abnormal genitalia in females is not a common feature. Renal abnormalities have been reported in a minority of patients. Horseshoe kidney and bladder diverticuli have been reported. Other abdominal malformations, including pyloric stenosis and hernias, have also been reported, though they are present in only a minority of patients.

Orthopedic anomalies also occur relatively frequently, with hip dysplasia being the most common orthopedic issue. Clubfoot and rocker bottom feet have also been reported.

Myelomeningocele is another known feature associated with tetrasomy 18p.

Read more about this topic:  Tetrasomy 18p, Clinical Description

Other articles related to "congenital anomalies, congenital, anomalies":

Congenital Disorder - Occurrence Rate - Relationship of Congenital Anomalies With Sex
... that the frequency of occurrence of certain congenital malformations depends on the sex of the child (table) ... For example pyloric stenosis more often occurs at boys, and congenital hip dislocation is 4–5 times more often at girls ... The sex ratio of patients with congenital malformations Congenital anomaly Sex ratio, ♂♂♀♀ Defects with female predominance Congenital hip dislocation 1 5.2 1 1 ... 1 ... 3.7 Cleft ...
Congenital Abnormality - Causes
... The cause of 40-60% of congenital anomalies in humans is unknown ... For 20-25% of anomalies there seems to be a "multifactorial" cause, meaning a complex interaction of multiple minor genetic anomalies with environmental risk factors ... Another 10-13% of anomalies have a purely environmental cause (e.g ...

Famous quotes containing the word congenital:

    A society in which adults are estranged from the world of children, and often from their own childhood, tends to hear children’s speech only as a foreign language, or as a lie.... Children have been treated ... as congenital fibbers, fakers and fantasisers.
    Beatrix Campbell (b. 1947)