chromosome 22q11.2 deletion syndrome, distal https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_22q112_deletion_syndrome_distal MEDGEN:395634 MONDO:0012740 DOID:0060413 SCTID:734029004 chromosome 22q11.2 deletion syndrome, distal Orphanet:261330 OMIM:611867 distal del(22)(q11.2) Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors. DECIPHER:72 UMLS:C2678480 GARD:0017245 distal monosomy 22q11.2 MESH:C567511 distal 22q11.2 microdeletion syndrome 22q11.2 deletion syndrome