Search results
Results From The WOW.Com Content Network
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 ...
1 in 50,000 people [5] Treacher Collins syndrome ( TCS ) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [ 5 ] The degree to which a person is affected, however, may vary from mild to severe. [ 5 ]
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 ...
Hall-Riggs syndrome is a rare genetic disorder that causes neurological issues and birth defects. [1] People with Hall-Riggs syndrome usually have skeletal dysplasia, facial deformities, and intellectual disabilities. [2] Only 8 cases from 2 families worldwide have been described in medical literature. [2]
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.
Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...
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. Inheritance is autosomal recessive. [2]