velocardiofacial syndrome (DOID:12583)
Alliance: disease page
Synonyms: Shprintzen syndrome; VCF-Velocardiofacial syndrome
Alt IDs: OMIM:192430, ICD10CM:Q93.81, ICD9CM_2006:758.32, ICD9CM:758.32, MESH:D004062, UMLS_CUI:C0220704
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.