3p- syndrome
Findings
No curated finding names 3p- syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013424), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Intellectual disabilityHPO
Show the remaining 41
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 18 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 9 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- 12 of 20 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
Where it sits
Other names
6 names
Resolves to: 3p- syndrome
- Also called
- chromosome 3pter-p25 deletion syndromedistal 3p deletiondistal monosomy 3pdistal monosomy type 3pmonosomy 3ptertelomeric monosomy 3p