digiorgi syndrome

digiorgi syndrome

DiGeorge syndrome is a congenital disease (*188400, 22q 11, damage to the DGCR, DOS, VCF, R genes) in the form of a combination of hypocalcemia (parathyroid gland hypoplasia), T-cell immunodeficiency (thymus hypoplasia), heart outlet defects (including tetrad Fallot), as well as facial malformations. The frequency is 1:4,000 newborns. Etiology

• • Most cases of the syndrome are observed with a deletion of the locus 22qll.2 ®; the deletion is represented by several phenotypes (Sprintzen, Takao, DiGeorge syndromes)
  • Lesions of the 10p13, 18q21.33, 4q21.3-q25 loci and the TUPLE1 gene were found less frequently. Risk factors. Alcohol and isotretinoin in utero.

Clinical picture

• • Parathyroid – hypocalcemia
  • Thyroid – Hypothyroidism
  • Heart and vessels: tetralogy of Fallot, ventricular septal defect, right-sided aortic arch, atopic origin of the right subclavian artery
  • Defects of the auricle, nose, cleft lip and palate
  • short stature
  • CNS: learning difficulties, seizures
  • Pronounced susceptibility to various infections.

Diagnostics

• • Karyotyping
  • hypocalcemia
  • In English-speaking countries, the mnemonic diagnostic rule -САТСН22 (heart defects, characteristic face, immunodeficiency, cleft palate, hypocalcemia, 22qll deletion) is common.

Treatment

• • Treatment of hypocalcemia (see Hypocalcemia)
  • Thymus transplant
  • Correction of facial malformations
  • Cardiac surgery.

ICD. D82.1 Di George’s syndrome

MIM

• • 188400 DiGeorge Syndrome
  • 192430 Velocardiofacial syndrome
  • 192430 Shprintzen syndrome Notes
  • The first descriptions of the syndrome belong to Cooper et al. (Cooper et al., 1965), DiGeorge (DiGeorge, 1968) and Strong (Strong, 1968)
  • Wilson (1993) proposed the acronym CATCH22 (Cardiac abnormality/abnormal fades, 1-cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism resulting from 22qll deletion) to refer to the clinical picture of a 22qll deletion. The acronym CATCH22 is the name of Heller’s famous thriller.
  • Catch-22
  • (Heller, 1962)
  • Shprintzen’s syndrome (-#192430, R; often del(22ql 1). Symptoms are almost the same as in DiGeorge’s syndrome. As in the aftermath, cataracts, micrognathia, microcephaly, inguinal and umbilical hernia, hypospadias are additionally possible
  • velocardiofacial syndrome
  • Combination of DiGeorge and Shprintzen syndromes (601362, 10p14-p13, DGCR2, DGS2)
  • Takao’s syndrome is a syndrome described by a group of Japanese authors (Takao, 1980) that is phenotypically similar to DiGeorge’s syndrome.

Literature. Cooper MD, Peterson RDA: Good RA. A new concept of the cellular basis of immunology. / Pediat. 67: 907-908, 1965; DiGeorgeAM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Orig. Art., Ser. IV (1): 116-121, 1968; Heller J. Catch 22. London: Jonathan Cape, 1962; Shprintzen R et al. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 67: 167-172, 1981; Strong WB: Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism. J. Pediat. 73: 882-888, 1968; Takao A et al: Etiologic categorization of common congenital heart disease. In: Van Praagh R and Takao A eds.: Etiology and Morphogenesis of Congenital Heart Disease. Mount Kisco, NY: Futura Publishing Company, pp. 253-269, 1980; Wilson DI et al: DiGeorge syndrome, part of CATCH 22. /. Med. Genet. 30:852-856, 1993