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Start free with EleplanDistal deletion 6p syndrome
ORPHA:96125Malformation syndrome
Also called 6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome · Distal deletion 6p25 · Monosomy 6p25 · Monosomy 6pter
What it is
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- 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%
22- Abnormality of the dentition
- Anterior synechiae of the anterior chamber
- Anteverted nares
- Atrial septal defect
- Broad forehead
- Clinodactyly of the 5th finger
- Corneal opacity
- Depressed nasal bridge
- Downslanted palpebral fissures
- Downturned corners of mouth
- Epicanthus
- Glaucoma
- Hearing impairment
- High hypermetropia
- Hypoplasia of the iris
- Malar flattening
- Posterior embryotoxon
- Short philtrum
- Smooth philtrum
- Strabismus
- Underdeveloped nasal alae
- Wide nose
Sometimes5–29%
11- Abnormality of epiphysis morphology
- Ectopia pupillae
- Micrognathia
- Orofacial cleft
- Scoliosis
- Self-injurious behavior
- Short foot
- Short palm
and 3 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.
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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