Autoszomális domináns
Caused by changes in one copy of NR2F2 (also called COUP-TFII), a gene that regulates development of the heart, blood vessels, diaphragm and gonads. Variants often arise de novo but can be inherited, and features vary widely.
Tünetek és jelek
Congenital heart defects are a common feature. Some children have congenital diaphragmatic hernia, and some people with XX chromosomes have differences of sex development. Growth restriction, developmental delay or facial differences can also occur.
Mit változtat a diagnózis
Heart assessment, with surgery when needed, and evaluation of the diaphragm, genitals and development. Genetic counselling and parental testing clarify recurrence risk, since a parent may carry the change with milder features.
Vizsgált gének
Más néven
ARP1-related multiple congenital anomalies/dysmorphic syndrome; COUPTFII-related multiple congenital anomalies/dysmorphic syndrome; TCOUP2-related multiple congenital anomalies/dysmorphic syndrome
