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defects of genes on chromosome 3 and 18. Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [ 1 ] ) is an extremely rare congenital nanosomic disorder.
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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 ...
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
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. There are over 6,000 known genetic disorders in humans.
The NBDPN publishes its annual report in December Issue of the Journal of Birth Defects Research Part A (BDRA). The annual report has two parts: 1) a series of articles relating to various issues in surveillance, epidemiology, and the application of surveillance data to birth defects prevention and public health programs, and 2) statistical data from population-based surveillance programs ...
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
The infant may be seriously affected and have a variety of birth defects. Complications in the mother and fetus can include pre-eclampsia, anemia, miscarriage, low birth weight, still birth, congestive heart failure, impaired neurointellectual development, and if severe, congenital iodine deficiency syndrome.