DiGeorge Syndrome: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Thymus Gland: A single, unpaired primary lymphoid organ situated in the MEDIASTINUM, extending superiorly into the neck to the lower edge of the THYROID GLAND and inferiorly to the fourth costal cartilage. It is necessary for normal development of immunologic function early in life. By puberty, it begins to involute and much of the tissue is replaced by fat.Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.Syndrome: A characteristic symptom complex.T-Box Domain Proteins: Proteins containing a region of conserved sequence, about 200 amino acids long, which encodes a particular sequence specific DNA binding domain (the T-box domain). These proteins are transcription factors that control developmental pathways. The prototype of this family is the mouse Brachyury (or T) gene product.Abnormalities, MultipleChromosome Deletion: Actual loss of portion of a chromosome.Branchial Region: A region, of SOMITE development period, that contains a number of paired arches, each with a mesodermal core lined by ectoderm and endoderm on the two sides. In lower aquatic vertebrates, branchial arches develop into GILLS. In higher vertebrates, the arches forms outpouchings and develop into structures of the head and neck. Separating the arches are the branchial clefts or grooves.Truncus Arteriosus, Persistent: A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect.Histone Chaperones: Proteins involved in the assembly and disassembly of HISTONES into NUCLEOSOMES.Hypocalcemia: Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Hypoparathyroidism: A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Parathyroid Glands: Two pairs of small oval-shaped glands located in the front and the base of the NECK and adjacent to the two lobes of THYROID GLAND. They secrete PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.22q11 Deletion Syndrome: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.Neural Crest: The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.Velopharyngeal Insufficiency: Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.
  • This is because of a gland in the lower neck called the thymus, which has an important role in childhood. (childrens.com)
  • They noted similarities to multiple cases in a single family first reported by Strong in 1968 who referred to 'a familial syndrome of right-sided aortic arch, mental deficiency and facial dysmorphism. (speechpathology.com)
  • Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects , and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy ). (thefreedictionary.com)
  • Immunoglobulin deficiency syndromes are a group of disorders that involve defects of any component of the immune system or a defect of another system that affects the immune system, leading to an increased incidence or severity of infection. (encyclopedia.com)
  • The thymus allows certain immune cells known as "T-cells" to mature, but when it functions poorly, these cells do not work as well as they should in early years. (childrens.com)
  • Most children with this condition who have a degree of immune malfunction tend to have a poorly functioning thymus, but the immune malfunction in early years tends to improve over time as other parts of the body take over that role. (childrens.com)
  • Children who have immunodeficiency syndromes may be subject to infection, diseases, disorders, or allergic reactions to a greater extent than individuals with fully functioning immune systems. (encyclopedia.com)
  • This logically implies that there are other causes for classic "DiGeorge Syndrome", and in fact, diabetic embryopathy, unbalanced karyotypes, fetal cocaine or alcohol exposure, VACTERL association, CHARGE Syndrome, and point mutations in TBX1, have all been attributed as other causes. (clinicaladvisor.com)
  • Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. (thefreedictionary.com)
  • Syndromes are generally names after the person or persons who first described the collection of findings. (upenn.edu)
  • Dr. Angelo DiGeorge, who first diagnosed this collection of findings, was and still is an endocrinologist at St. Christopher's Hospital for Children in Philadelphia. (upenn.edu)
  • It is now accepted that these two syndromes represent the different expression of a unique disorder manifesting at different stages of life. (wikipedia.org)
  • Because this syndrome is relatively common, and includes many disorders of communication, I asked Karen Golding-Kushner, PhD, CCC-SLP to do a 20Q article on this topic. (speechpathology.com)