Name: DiGeorge syndrome | Acronym: 22q11DS
Alt. names: 22q11.2 deletion syndrome

Gene: TBX1 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 2 | First reported in: 2003

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 188400

Orphanet: 567

MONDO: -

DOID: -

ClinGen:

22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. Congenital heart defects (two-thirds of cases) include mainly conotruncal malformations such as ventricular septal defect, truncus arteriosus, tetralogy of Fallot and interrupted aortic arch. Anomalies of the aortic arch and vascular ring are frequent. More than 65% of patients present with palatal anomalies (e.g. velopharyngeal incompetence, submucous cleft palate or bifid uvula) that may lead to hypernasal speech and feeding difficulties. Overt cleft palate and cleft lip are less frequent. Most patients display subtle but recognizable facial features (e.g. ptosis, hypertelorism, epicanthal folds, prominent nasal root, malar flatness, small ears). Immune deficiency is the consequence of thymic aplasia/hypoplasia and improvement in T-cell production occurs over time. Patients have a higher risk of developing an autoimmune disease such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis. Hypocalcemia as a consequence of hypoparathyroidism is frequent in the neonatal period and usually resolves but can reappear at any age. Additional clinical findings may include gastrointestinal anomalies (intestinal malrotation, imperforate anus), hearing loss, renal anomalies (renal agenesis), dental anomalies (enamel hypoplasia), and skeletal anomalies (scoliosis, clubfoot). Learning difficulties and developmental delay are almost always present. Psychiatric illness (anxiety, depression, schizophrenia) and Parkinson's disease are more frequent than in the general population.[ORPHANET]

Management is symptom-based and requires a multidisciplinary approach. It may consist of heart and/or palate surgery, nasogastric feeding, calcium supplementation, occupational, physical, and speech therapy, educational and behavioral therapy, as well as support and treatment for psychiatric disease. Tonsillectomy is not recommended unless indicated by a center of expertise. A regular surveillance of calcium, thyroid function and blood cell count is necessary. Immune function must be evaluated before administering live vaccines.[orphanet]