Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with Eleplan5q22 microdeletion syndrome
ORPHA:261584Disease
Also called Del(5)(q22) syndrome · Monosomy 5q22 syndrome
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Adult
- Inheritance
- Not applicable
- Classified as
- Disease
Signs and symptoms
Common30–79%
20- Abnormality of canine
- Broad nasal tip
- Congenital hypertrophy of retinal pigment epithelium
- Downslanted palpebral fissures
- Duodenal polyposis
- Dyslexia
- Early balding
- Epidermoid cyst
- High forehead
- High palate
- Hypertelorism
- Intellectual disability, mild
- Intestinal bleeding
- Iron deficiency anemia
- Long face
- Long philtrum
- Mandibular prognathia
- Narrow mouth
- Relative macrocephaly
- Thick upper lip vermilion
Sometimes5–29%
11- Airway obstruction
- Colon cancer
- Desmoid tumors
- Generalized hypotonia
- Low posterior hairline
- Micrognathia
- Optic disc hypoplasia
- Posterior polar cataract
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.
Gene
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.