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 April 2026
Newly diagnosed with
Distal deletion 3p?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.