Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome.
Esophageal atresia refers to a congenitally interrupted esophagus.
When a malformation of the anus is present, the muscles and nerves associated with the anus often have a similar degree of malformation.
Congenital hip dysplasia (also known as developmental hip dysplasia) is related to abnormal hip development that may arise during the fetal life. The abnormalities include hip instability, preluxation, subluxation, and dislocation.
Idiopathic thrombocytopenic purpura (ITP) is defined as isolated thrombocytopenia with normal bone marrow and in the absence of other causes of thrombocytopenia.
Rheumatic fever is an inflammatory disease that can develop as a complication of inadequately treated strep throat or scarlet fever.
Acute rheumatic fever is an inflammatory autoimmune disease that occurs 2 to 6 weeks following an untreated or undertreated group A beta-hemolytic streptococcal infection. It affects the heart, joints, brain, and skin.
Hemophilia results from mutations at the factor VIII or IX loci on the X chromosome and each occurs in mild, moderate, and severe forms.
Type 1 diabetes is a chronic illness characterized by the body’s inability to produce insulin due to the autoimmune destruction of the beta cells in the pancreas.
Congenital aganglionic megacolon, also called Hirschsprung disease, is characterized by persistent constipation resulting from partial or complete intestinal obstruction of mechanical origin.