Distal duplication 5q
Synonyms: Distal trisomy 5q | Telomeric duplication 5q | Trisomy 5qter
Distal trisomy 5q is a rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5 characterized by short stature moderate intellectual disability and craniofacial dysmorphism (microcephaly flat facies large low-set dysplastic ears down-slanted almond-shaped palpebral fissures hypertelorism epicanthal folds small nose long philtrum small mouth with thin upper lip and micrognathia). Patients also frequently present speech and cognitive delay cardiac (ventriculomegaly ventricular septum defect) and skeletal abnormalities (craniosynostosis radial agenesis ulnar hypoplasia brachydactyly) and genital malformations (hypospadias cryptorchidism).
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 http://www.orphadata.org. Data version April 2024
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