Distal duplication 17q
Synonyms: Distal trisomy 17q | Telomeric duplication 17q | Trisomy 17qter
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability developmental delay short stature craniofacial dysmorphism (incl. microcephaly low posterior hairline frontal bossing bitemporal narrowing low-set and malformed ears flat nasal bridge long philtrum wide mouth with downturned corners thin upper lip) and a short webbed neck as well as skeletal anomalies (e.g. brachyrhizomelia poly-/syndactyly) and joint hyperlaxity. Cardiac cerebral and urogenital anomalies are also frequently associated.
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 17q?
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