acrocardiofacial syndrome

Term ID

DOID:0070419

Synonyms

• cleft palate, cardiac defect, genital anomalies, and ectrodactyly
• cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome

Definition

A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. https://pubmed.ncbi.nlm.nih.gov/20920258

References

• GARD:1167
• MESH:C563936
• OMIM:600460
• ORDO:2008

Ontology

Human Disease   ( DOID:0070419 )