Trisomy 4p

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Synonyms: Duplication 4p | Duplication of the short arm of chromosome 4 | Trisomy of the short arm of chromosome 4

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Trisomy 4p?

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