Search results
Results from the WOW.Com Content Network
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
[5]: 62 Babies with Down syndrome and other chromosomal defects that cause congenital heart defects may also be at risk of teratology of Fallot. [11] Teratology of fallot is typically treated by open heart surgery in the first year of life. [8] The timing of surgery depends on the baby's symptoms and size. [8]
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades [when?] and is now similar to that of the average person. [63] Regular checkups are recommended to monitor the health of the heart valves and the aorta. Marfan syndrome is treated by addressing each issue as it arises and, in ...
Scimitar syndrome, or congenital pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung (to the systemic venous drainage, rather than directly to the left atrium). [1] This anomalous pulmonary venous return can be either partial (PAPVR) or total (TAPVR).
Cherubism has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and fragile X syndrome. [8] Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases. [3] The mutation of the SH3BP2 gene is believed to increase production of over active proteins from this gene.
Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...