velocardiofacial syndrome

Term ID

DOID:12583

Synonyms

• Shprintzen syndrome
• VCF-Velocardiofacial syndrome

Definition

A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (2)

References

• ICD10CM:Q93.81
• ICD9CM:758.32
• MESH:D004062
• OMIM:192430
• SNOMEDCT_US_2023_03_01:205642004
• UMLS_CUI:C0220704

Ontology

Human Disease   ( DOID:12583 )