tetrasomy 5p
Findings
No curated finding names tetrasomy 5p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
Definition from the Mondo Disease Ontology (MONDO:0018028), read 2026-09-29. CC BY 4.0.
Features
44 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.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Very frequent (80% to 99% of cases)
- CyanosisHPOHP:0000961
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- Full cheeks
Show the remaining 32
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- Overlapping toeHPOHP:0001845
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Pericallosal lipomaHPOHP:0006931
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: tetrasomy 5p
- Also called
- Isochromosome 5ptetrasomy type 5p