Distal deletion 3p

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Synonyms: 3p deletion syndrome | 3p- syndrome | Distal monosomy 3p | Monosomy 3pter | Telomeric monosomy 3p

Distal monosomy 3p is a rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3 with a highly variable phenotype typically characterized by pre- and post-natal growth retardation intellectual disability developmental delay and craniofacial dysmorphism (microcephaly trigonocephaly downslanting palpebral fissures telecanthus ptosis micrognathia). Postaxial polydactyly hypotonia renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.

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 May 2024

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Distal deletion 3p?

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