Category: A

Chlamydia is the most common sexually transmitted bacterial infection in the United States. Its full name is chlamydia trachomatis. This kind of bacteria can infect the penis, vagina, cervix, anus, urethra, or eye (Planned Parenthood, 2000a, 2000b). Chlamydia specifically targets the mucosal membranes of these areas. In addition, the mucosal surface of the pharynx is…

Atypical child syndrome, which was borrowed from the medical community and was commonly used prior to 1980, is almost never used to identify children today. This syndrome refers to children who are exceptional. Exceptional children differ from average or normal children and are now characterized more specifically in terms of their physical or behavioral disabilities.…

Atrioventricular septal defect (AVSD) is a congenital heart defect (present at birth). It is also known as cor biloculare. Additionally, there are several subdivisions depending on the size and location of the defect. Specifically, these subdivisions are atrial and septal and small ventricular septal defect, atrial septal defect primum, complete atrioventricular septal defect, incomplete atrioventricular…

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative genetic disorder characterized by progressive ataxia due to cerebellar degeneration, oculocutaneous telangiectasia, immunodeficiency with recurrent sinopulmonary infections, significant sensitivity to ionizing radiation, and increased risk of cancers, especially lymphoma and leukemia. Incidence is estimated as 1 in 40,000 births, although this may be an underestimate due to early…

Arteriovenous malformations (AVMs) of the central nervous system are a set of vascular abnormalities. These congenital lesions are typified by the failure of development of the capillary network normally separating arteries and veins. Lack of a capillary bed allows exaggerated blood flow through the malformation, shunting and stealing blood from other areas of the vascular…

APECED is also known as autoimmune polyglandular disease Type I or autoimmune-polyendocrinopathy-candidias. APECED stands for autoimmune polyendocrinopathy (APE), candidiasis (C), and ectodermal dysplasia (ED). It is a very rare genetic syndrome that involves the autoimmune system. It is a combination of several distinct disorders and is defined as the subnormal functioning of several endocrine glands…

This syndrome is a rare hereditary disorder. It causes distinctive deformities of the head and face. There are also other skeletal anomalies of the extremities.  

Aniridia cerebellar ataxia mental deficiency, also known as Gillespie syndrome, is characterized by mental retardation, partial absence of the iris of the eye (partial aniridia), and incoordination of voluntary movements due to underdevelopment of the brain’s cerebellum.  

Fanconi anemia (FA) was first reported by Guido Fanconi, a Swiss pediatrician, in 1927. Because FA is an autosomal recessive disorder that leads to bone marrow failure, both parents must carry the recessive gene for the child to have the disorder. People with FA do not produce a protein necessary for cell functioning; as the…

Diamond-Blackfan anemia (DBA) is a congenital deficiency in the precursor mechanism of red blood cells causing failure or low production rates of new blood cells in the bone marrow. The disease is usually present at birth or develops during the first year of life, with 50% of males developing the disease by 2 months of…