7p22.1 microduplication syndrome
Findings
No curated finding names 7p22.1 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0017792), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Very frequent (80% to 99% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: 7p22.1 microduplication syndrome
- Also called
- dup(7)(p22.1)trisomy 7p22.1