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Start free with EleplanMosaic trisomy 8 syndrome
ORPHA:96061Malformation syndrome
Also called Mosaic trisomy chromosome 8 · Trisomy 8 mosaicism · Warkany syndrome
What it is
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
27- Abnormality of the antihelix
- Abnormal pinna morphology
- Abnormal rib morphology
- Anteverted nares
- Broad nasal tip
- Camptodactyly of finger
- Corneal opacity
- Deeply set eye
- Deep palmar crease
- Deep plantar creases
- Dolichocephaly
- Frontal bossing
- Hydronephrosis
- Hypertelorism
- Limitation of joint mobility
- Long face
- Macrotia
- Micrognathia
- Narrow chest
- Narrow pelvis bone
- Patellar aplasia
- Protruding ear
- Scoliosis
- Strabismus
- Vertebral segmentation defect
- Vesicoureteral reflux
- Wide nose
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.
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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