partial duplication of the short arm of chromosome 2 distal trisomy 2p https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_2p MONDO:0019871 Orphanet:96070 UMLS:C4706937 distal trisomy type 2p trisomy 2pter telomeric duplication 2p GARD:0019304 MEDGEN:1646233 SCTID:764518004 distal duplication 2p 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. obsolete chromosomal anomaly with cataract