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ORPHA:261211Malformation syndrome
Also called Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2
What it is
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- 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%
7Common30–79%
18- Abnormal pinna morphology
- Bilateral single transverse palmar creases
- Blepharophimosis
- Camptodactyly of finger
- Deeply set eye
- Delayed speech and language development
- Epicanthus
- Flat face
- Frontal bossing
- Hyperactivity
- Hypotonia
- Impaired pain sensation
- Low-set ears
- Microretrognathia
- Multiple cafe-au-lait spots
- Open mouth
- Short stature
- Toe syndactyly
Sometimes5–29%
18- Absent nasal bridge
- Anteverted nares
- Arrhythmia
- Bulbous nose
- Hearing impairment
- High forehead
- Hypotelorism
- Long face
and 10 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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