DiGeorge syndrome
- Synonyms
- Catch22; DiGeorge anomaly; DiGeorge sequence; Familial third and fourth pharyngeal pouch syndrome; Hypoplasia of thymus and parathyroid; Pharyngeal pouch syndrome; Third and fourth pharyngeal pouch syndrome; Thymic aplasia syndrome
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Donna M McDonald-McGinn
- Heather S Hain
- Beverly S Emanuel
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (92 available)
Cytogenetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Drooling
Drooling
- MedGen UID: 8484
- Concept ID: C0013132
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
Abnormality of head or neck
- Short palpebral fissure
Short palpebral fissure
- MedGen UID: 98067
- Concept ID: C0423112
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Bifid uvula
- Abnormality of metabolism/homeostasis
- Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level
- MedGen UID: 1630961
- Concept ID: C0729198
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypocalcemia
Hypocalcemia
- MedGen UID: 5705
- Concept ID: C0020598
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased circulating parathyroid hormone level
- Abnormality of the cardiovascular system
- Aortic arch interruption
Aortic arch interruption
- MedGen UID: 57773
- Concept ID: C0152419
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Right aortic arch with mirror image branching
Right aortic arch with mirror image branching
- MedGen UID: 871216
- Concept ID: C4025695
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Tetralogy of Fallot
Tetralogy of Fallot
- MedGen UID: 21498
- Concept ID: C0039685
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Truncus arteriosus
Truncus arteriosus
- MedGen UID: 22501
- Concept ID: C0041206
- Finding: Embryonic Structure
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic arch interruption
- Abnormality of the digestive system
- Cholelithiasis
Cholelithiasis
- MedGen UID: 3039
- Concept ID: C0008350
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cholelithiasis
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Parathyroid agenesis
Parathyroid agenesis
- MedGen UID: 730196
- Concept ID: C1321907
- Finding: Congenital Abnormality
Abnormality of the endocrine system
- Parathyroid hypoplasia
Parathyroid hypoplasia
- MedGen UID: 235593
- Concept ID: C1389851
- Finding: Congenital Abnormality
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the eye
- Accommodative esotropia
Accommodative esotropia
- MedGen UID: 102331
- Concept ID: C0155336
- Finding: Disease or Syndrome
Abnormality of the eye
- Amblyopia
Amblyopia
- MedGen UID: 8009
- Concept ID: C0002418
- Finding: Disease or Syndrome
Abnormality of the eye
- Esophoria
Esophoria
- MedGen UID: 57753
- Concept ID: C0152216
- Finding: Disease or Syndrome
Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Posterior embryotoxon
Posterior embryotoxon
- MedGen UID: 154282
- Concept ID: C0546967
- Finding: Congenital Abnormality
Abnormality of the eye
- Sclerocornea
Sclerocornea
- MedGen UID: 344000
- Concept ID: C1853235
- Finding: Disease or Syndrome
Abnormality of the eye
- Accommodative esotropia
- Abnormality of the genitourinary system
- Hydrocele testis
Hydrocele testis
- MedGen UID: 318568
- Concept ID: C1720771
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Unilateral renal agenesis
Unilateral renal agenesis
- MedGen UID: 75607
- Concept ID: C0266294
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydrocele testis
- Abnormality of the immune system
- Abnormal thymus morphology
Abnormal thymus morphology
- MedGen UID: 852464
- Concept ID: C0262650
- Finding: Finding
Abnormality of the immune system
- Acne
Acne
- MedGen UID: 152379
- Concept ID: C0702166
- Finding: Disease or Syndrome
Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Hypoplasia of the thymus
Hypoplasia of the thymus
- MedGen UID: 146347
- Concept ID: C0685891
- Finding: Congenital Abnormality
Abnormality of the immune system
- Impaired T cell function
Impaired T cell function
- MedGen UID: 395415
- Concept ID: C1860127
- Finding: Cell or Molecular Dysfunction
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Seborrheic dermatitis
Seborrheic dermatitis
- MedGen UID: 19912
- Concept ID: C0036508
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Abnormal thymus morphology
- Abnormality of the musculoskeletal system
- Cyst - pilonidal
Cyst - pilonidal
- MedGen UID: 19314
- Concept ID: C0031925
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Femoral hernia
Femoral hernia
- MedGen UID: 9231
- Concept ID: C0019288
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Intervertebral disc degeneration
Intervertebral disc degeneration
- MedGen UID: 102357
- Concept ID: C0158266
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Patellar dislocation
Patellar dislocation
- MedGen UID: 253896
- Concept ID: C1135812
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Tetany
Tetany
- MedGen UID: 11748
- Concept ID: C0039621
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Cyst - pilonidal
- Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Bipolar affective disorder
Bipolar affective disorder
- MedGen UID: 2649
- Concept ID: C0005586
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hemiparesis
Hemiparesis
- MedGen UID: 6783
- Concept ID: C0018989
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Schizophrenia
Schizophrenia
- MedGen UID: 48574
- Concept ID: C0036341
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
- Abnormality of the respiratory system
- Atelectasis
Atelectasis
- MedGen UID: 13946
- Concept ID: C0004144
- Finding: Pathologic Function
Abnormality of the respiratory system
- Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease
- MedGen UID: 9818
- Concept ID: C0024117
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent pneumonia
Recurrent pneumonia
- MedGen UID: 195802
- Concept ID: C0694550
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent sinusitis
Recurrent sinusitis
- MedGen UID: 107919
- Concept ID: C0581354
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Atelectasis
- Abnormality of the voice
- Hypernasal speech
Hypernasal speech
- MedGen UID: 107884
- Concept ID: C0566620
- Finding: Finding
Abnormality of the voice
- Hypernasal speech
- Ear malformation
- Abnormality of the middle ear
Abnormality of the middle ear
- MedGen UID: 348799
- Concept ID: C1861141
- Finding: Finding
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Abnormality of the middle ear
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Obesity
- EuroGenetest, 2010Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.