CHDs/Genetic Conditions/Related Syndromes

What is Emanuel syndrome? Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have one or more of the following: weak muscle tone (hypotonia) fail to gain weight and grow at the expected rate (failure to thrive) their development is significantly delayed, and… Continue Reading

Patau Syndrome, also known as trisomy 13 and trisomy D, is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. Patau syndrome is… Continue Reading

Holt-Oram syndrome, also called heart-hand syndrome, is an inherited disorder characterized by abnormalities of the upper limbs and heart. Holt and Oram first described this condition in 1960 in a 4-generation family with atrial septal defects and thumb abnormalities. The syndrome is inherited as an autosomal dominant trait that is completely penetrant. The disease is… Continue Reading

Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy that is defined as deterioration in cardiac function presenting typically between the last month of pregnancy and up to five months postpartum. As with other forms of dilated cardiomyopathy, PPCM involves systolic dysfunction of the heart with a decrease of the left ventricular ejection fraction (EF)… Continue Reading

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder that affects the development of children both before and after birth. The syndrome was first described in 1964 in three boys with poor growth, developmental delays, and a common pattern of congenital malformations including cleft palate, genital malformations, and polydactyly (extra fingers and toes). Although the name “RSH… Continue Reading