trisomy 4p
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.
MONDO:0016941
partial duplication of the short arm of chromosome 4
is_a
4p duplication
related
4p trisomy
related
Duplication 4p
exact
Duplication of the short arm of chromosome 4
exact
chromosome 4p duplication
related
partial trisomy 4p
related
trisomy of the short arm of chromosome 4
exact
trisomy type 4p
exact