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Start free with EleplanJacobsen syndrome
ORPHA:2308Malformation syndrome
Also called 11q terminal deletion syndrome · Chromosome 11q deletion syndrome · Del(11)(q23.3) · Del(11)(qter) · Distal deletion 11q · Distal monosomy 11q · Monosomy 11qter · Telomeric deletion 11q
What it is
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, United States)
- Age of onset
- Antenatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6Common30–79%
36- Abnormal form of the vertebral bodies
- Anteverted nares
- Aplasia/Hypoplasia of the earlobes
- Aplasia/Hypoplasia of the eyebrow
- Attention deficit hyperactivity disorder
- Broad columella
- Broad hallux phalanx
- Constipation
- Cryptorchidism
- Downslanted palpebral fissures
- Epicanthus
- Facial asymmetry
- Finger syndactyly
- Frontal bossing
- High forehead
- Hypertelorism
- Long hallux
- Long philtrum
- Macrocephaly
- Microcornea
- Missing ribs
- Pes planus
- Posteriorly rotated ears
- Premature birth
- Ptosis
- Recurrent respiratory infections
- Short neck
- Short nose
- Short stature
- Short toe
- Smooth philtrum
- Strabismus
- Toe clinodactyly
- Toe syndactyly
- Ventricular septal defect
- Ventriculomegaly
Sometimes5–29%
34- Abnormality of the anus
- Abnormal palate morphology
- Agenesis of corpus callosum
- Annular pancreas
- Aortic valve stenosis
- Bipolar affective disorder
- Cataract
- Cerebral atrophy
and 26 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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