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Spina bifida (SB; / ˈ s p aɪ n ə ˈ b ɪ f ɪ d ə /; [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1]
Those with blood vessel fragility, though, have a high risk of fatal complications, including spontaneous arterial rupture, which is the most common cause of sudden death. The median life expectancy in the population with vascular EDS is 48 years. [131]
Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part ...
Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: . Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The most common heart malformations from genetic or epigenetic problems are: stenosis of the aorta and pulmonary trunk, which is a narrowing of the vessels, atrial and/or ventricular septal defect, tricuspid atresia, and hypoplastic left and right heart syndrome. When an individual has hypoplastic right or left heart syndrome, it means that ...
Eye abnormalities including cataracts, infantile glaucoma and retinopathy are common in infants born with CRS. [27] Infants should undergo eye examinations after birth and during early childhood. Those with congenital eye defects require care from a pediatric ophthalmologist for specialized care and follow up. [4]
It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3] Many of those affected die before birth. [3] Some studies suggest that more babies that survive to birth are female. [2] Survival beyond a year of life is around 5 ...