Distal deletion 3p
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Distal deletion 3p?
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Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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