trisomy 4p https://www.malacards.org/card/trisomy_4p MEDGEN:419836 MESH:C537643 trisomy of the short arm of chromosome 4 GARD:0006091 4p duplication Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. Duplication 4p partial trisomy 4p 4p trisomy trisomy type 4p MONDO:0015767 Duplication of the short arm of chromosome 4 UMLS:C2931571 Orphanet:1738 chromosome 4p duplication partial duplication of the short arm of chromosome 4