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Start free with Eleplan2q31.1 microdeletion syndrome
ORPHA:251014Malformation syndrome
Also called Del(2)(q31.1) · Monosomy 2q31.1
What it is
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
27- Abnormality of the hair
- Abnormal metacarpal morphology
- Brachydactyly
- Broad hallux phalanx
- Bulbous nose
- Camptodactyly of finger
- Clinodactyly of the 5th finger
- Deep philtrum
- Delayed skeletal maturation
- Downslanted palpebral fissures
- Downturned corners of mouth
- Hypoplastic toenails
- Hypotonia
- Language impairment
- Long philtrum
- Low-set ears
- Microcephaly
- Micrognathia
- Prominent metopic ridge
- Sandal gap
- Seizure
- Short neck
- Short palpebral fissure
- Short stature
- Tapered finger
- Toe syndactyly
- Vertebral segmentation defect
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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