Digeorge syndrome D82.1

Congenital syndrome with thymus and parathyroid aplasia, possibly absence of thyroid isthmus, double aortic arch, branchiogenic cysts and cleft throat.

Recently, the DiGeorge syndrome is summarized under the diagnosis"microdeletion syndrome 22q11.2" as a genetically induced multimorbidity syndrome (Malecki SL et al. 2019) with numerous congenital organic malformations and dysfunctions (see there).

Autosomal dominant with variable expressivity inherited deletion mutations (microdeletions) of various genes at gene locus 22q11 (STAT-3 gene) and consecutive developmental defects of the third and fourth pharyngeal pockets during embryonic development.

Some authors use the acronym "CATCH22" to refer to significant clinical changes. CATCH22 stands for: Cardial defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcaemia, deletion 22.

• Very variable clinical picture: hypoparathyroidism, hypocalcaemia with severe tetanus in neonates. In 75% of patients congenital heart defects (e.g. persistent truncus arteriosus, Fallotsche tetralogy), learning difficulties and speech development disorders (70-90%), Rhinophonia aperta. Facial dysmorphia such as cleft palate (70%), mandibular retrognathia, velopharyngial insufficiency. Facial anomalies with antimongoloid position of the lid axis, short eyelid crevices, microgenia, small mouth, short philtrum, deep set ears, bulbous nose with square root of the nose.
• Progressive lymphopenia with absence of T-lymphocytes and consecutive lack of cellular immunity with normal immunoglobulins. Primary hypoparathyroidism. Recurrent local and systemic infections, especially of the airways (Pneumocystis carinii pneumonia).
• Integument: From infancy on recurrent candidiasis of the oral mucosa, often with oropharyngeal involvement. Partially sharply limited hyperkeratoses or granulomas of the face, here especially on the lips and eyelids. Scaly changes in the area of the capillitium and the acra. Bullous, papulo-vesiculous and verrucous efflorescences (stripes, garlands, vertebrae), which follow the Blaschko lines. After healing of the acute symptoms often dirty brown or steel to slate grey hyperpigmentations. Hypotrichosis of head, axillary and pubic hair. Hypohidrosis to anhidrosis. Tendency to eczematisation due to reduced sebum secretion.
• After thymus transplantation often picture of acute graft-versus-host disease or chronic graft-versus-host disease.

DiGeorge's syndrome is today grouped together with other phenotypically different but genotypically identical clinical pictures (CATCH 22; Cayler cardiofacial syndrome; DiGeorge sequence; Sedlackova syndrome; Sphrintzen syndrome; Takao syndrome; Velocardiofacial syndrome, etc.) under the non-prejudicial neutral term "22q11.2-Deletions Syndrome (DS)".

1. Böttiger E, Wernstedt W (1927) Fatal case of spasmophilia in a breast child with abnormalities of the thymus and parathyroid. Acta pædiatrica Scandinavica (Stockholm) 6: 373-382
2. Chinen J (2003) Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol 111: 573-579
3. DiGeorge AM (1965) Discussions on a new concept of the cellular basis of immunity. Journal of Pediatrics (St. Louis) 67: 907-908
4. DiGeorge AM (1968) Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Original Article Series (New York) Series IV: 116-121
5. Fernhoff PM et al (2000) The 22q11.2 deletion syndrome: more answers but more questions. J Pediatr 2000 137: 145-147
6. Markert ML et al (1999) Transplantation of thymus tissue into complete Di George syndrome. N Engl J Med 341: 1180-1189
7. Ocejo-Vinyals JG et al (2000) An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly. Arch Dis Child 83: 165-169
8. Shprintzen RJ, Goldberg RB, Lewin ML et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft palate J 15: 56-62
9. Weissman IL et al (1999) Immune reconstitution. N Engl J Med 341: 1227-1229