Jacobsen syndrome
MONDO:0007838Mondo
Findings
No curated finding names Jacobsen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
Definition from the Mondo Disease Ontology (MONDO:0007838), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
76 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
Show the remaining 64
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Broad columellaHPOHP:0010761
- Frequent (30% to 79% of cases)
- Broad hallux phalanxHPOHP:0010059
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Where it sits
Other names
8 names
Resolves to: Jacobsen syndrome
- Also called
- 11q terminal deletion disorderDel(11)(q23.3)Del(11)(qter)distal deletion 11qdistal monosomy 11qJacobsen syndrome, Isolated casesmonosomy 11qtertelomeric deletion 11q