1 / 1
|
DeCS
|
|
|
Descriptor English:
|
|
DiGeorge Syndrome
|
Descriptor Spanish:
|
|
Síndrome de DiGeorge
|
Descriptor Portuguese:
|
|
Síndrome de DiGeorge
|
Synonyms English:
|
|
Velocardiofacial Syndrome
|
Tree Number:
|
|
C16.131.300
C19.642.482.500
C20.673.340
|
Definition English:
|
|
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene. |
History Note English:
|
|
91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
|
Allowable Qualifiers English:
|
|
|
Record Number:
|
|
4100
|
Unique Identifier:
|
|
D004062
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS SciELO LILACS LIS
|