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Start free with Eleplan2p15p16.1 microdeletion syndrome
ORPHA:261349Malformation syndrome
Also called Del(2)(p15p16.1) · Monosomy 2p15p16.1
What it is
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Not applicable
- 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%
18- Blepharophimosis
- Delayed speech and language development
- Downslanted palpebral fissures
- Epicanthus
- Everted lower lip vermilion
- Global developmental delay
- High palate
- Intellectual disability, moderate
- Long philtrum
- Microcephaly
- Narrow mouth
- Optic atrophy
- Optic nerve hypoplasia
- Prominent nasal bridge
- Ptosis
- Smooth philtrum
- Telecanthus
- Wide nasal bridge
Common30–79%
25- Attention deficit hyperactivity disorder
- Autism
- Autistic behavior
- Brachycephaly
- Camptodactyly of finger
- Failure to thrive
- Generalized hypotonia
- Growth delay
- Hydronephrosis
- Hypotonia
- Intrauterine growth retardation
- Long eyelashes
- Lower limb spasticity
- Low-set ears
- Metatarsus adductus
- Narrow forehead
- Prominent nasal tip
- Protruding ear
- Recurrent respiratory infections
- Retrognathia
- Sloping forehead
- Strabismus
- Tapered finger
- Visual impairment
- Wide intermamillary distance
Sometimes5–29%
34- Aortic regurgitation
- Bilateral single transverse palmar creases
- Cerebellar hypoplasia
- Decreased testicular size
- Dysarthria
- Dysphagia
- EEG abnormality
- Enlarged thorax
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.
Genes
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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