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Also known as:Chromosome 3, Monosomy 3pchromosome 3pter-p25 deletion syndromedistal 3p deletion
Overview
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.
GeneticsAutosomal dominant
ResearchLimited published research (9 articles)
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Gastroesophageal reflux, Overlapping toe, Postnatal growth retardation, and Intellectual disability and others; and very common findings: Ptosis. 58 total HPO annotations.
Organ System
Phenotype Count
Example Features
Brain and nerves
6
Seizure, Intellectual disability, Absent speech
Diagnosis
Biomarker and diagnostic research for 3p- syndrome has been reported in the published literature.
Prognosis
Phenotype severity distribution: 13 always present features, 1 very common feature, 15 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for 3p- syndrome.
9 publications have been identified in PubMed for 3p- syndrome. Research spans Case Report / Case Series (44%), Diagnostic / Biomarker (33%), and Clinical Trial Publication (11%).
Oguri S (2025). [PMID: 40517887](https://pubmed.ncbi.nlm.nih.gov/40517887/). *European journal of medical genetics*. [Case Report / Case Series]
Böttcher AK (2025). [PMID: 39841745](https://pubmed.ncbi.nlm.nih.gov/39841745/). *Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo*. [Case Report / Case Series]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
