Cardiology · Cardiology / Genetic cardiology
DiGeorge syndrome
also: 22q11.2 deletion syndrome; velocardiofacial syndrome
Microdeletion with conotruncal heart defects, hypocalcemia, immune deficiency and palatal anomalies.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonates
- Gene(s) involved
- CRKL, HIRA, TBX1
- Alternative names & eponyms
- 22q11.2 deletion syndrome; velocardiofacial syndrome
Etiology & mechanism
Deletion of 22q11.2 including TBX1 causes pharyngeal arch developmental defects.
Gene(s) involved (3)
Symptoms & signs (9)
In plain terms, someone with DiGeorge syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Apert syndrome
cleft palate
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Barakat syndrome
hypocalcemia
1 shared
Bare lymphocyte syndrome
recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Chediak–Higashi syndrome
recurrent infections
1 shared
Chédiak–Higashi syndrome
recurrent infections
1 shared
Diamond–Blackfan anemia
cleft palate
1 shared
Emanuel syndrome
cleft palate
1 shared
Felty syndrome
recurrent infections
Shares genes with
None.
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