Autozomálně dominantní
Caused by changes in one copy of MYRF, a gene that regulates development of the heart, diaphragm and reproductive tract. Many affected people have a de novo change.
Příznaky a projevy
Congenital heart defects are common, with scimitar syndrome (an abnormality of the lung veins) the most frequent, as are genital differences, particularly in people with XY chromosomes. Congenital diaphragmatic hernia and underdeveloped lungs occur in some. Eye differences, such as small eyes (nanophthalmos) with high long-sightedness, are seen in most affected people.
Co se diagnózou změní
Care is led by heart, surgical, urology and endocrine specialists as needed, with eye examination. Many cases arise de novo, but genetic counselling and parental testing are recommended to assess recurrence risk.
Analyzované geny
Známé také jako
CUGS
