Distal duplication 1p36
Synonyms: Distal trisomy 1p36 | Telomeric duplication 1p36 | Trisomy 1pter
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1 characterized by borderline to mild intellectual disability mild developmental delay metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead bitemporal narrowing blepharophimosis). Other associated abnormalities may include growth retardation microcephaly large hands syndactyly supernumerary ribs rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect patent ductus arteriosus) have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
Newly diagnosed with
Distal duplication 1p36?
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