Distal duplication 2p
Synonyms: Distal trisomy 2p | Telomeric duplication 2p | Trisomy 2pter
Distal trisomy 2p is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 2 with a highly variable phenotype principally characterized by pre- and post-natal growth failure global developmental delay facial dysmorphism (incl. high forehead/frontal bossing abnormal ear shape and/or position hypertelorism/telecanthus broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos retinal hypopigmentation optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia pectus excavatum long fingers and toes syndactyly congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects seizures pulmonary hypoplasia diaphragmatic hernia and urogenital anomalies.
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 September 2023.
Newly diagnosed with
Distal duplication 2p?
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