A type of lymphoma that originates in T-cells.

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).

The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.

An abnormal closure, or atresia of the tubular structure of the intestine.

Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.

Passage of many stools containing blood.

An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.

A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.

Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.

An abnormal closure, or atresia of the tubular structure of the ileum.

A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.

A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.

Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.

Increased numbers of platelets in the peripheral blood.

An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.

An autoimmune form of hemolytic anemia.

The occurrence of an immune reaction against the organism's own cells or tissues.

An abnormal increase in the number of leukocytes in the blood.

A reduced number of lymphocytes in the blood.

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.

A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).

Underdevelopment of the thymus.

Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.

An abnormally decreased level of immunoglobulin in blood.

Developmental hypoplasia of the dental enamel.

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.

The presence of excess amniotic fluid in the uterus during pregnancy.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).