Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanSATB2-associated syndrome due to a chromosomal rearrangement
ORPHA:251028Etiological subtype
Also called 2q33.1 microdeletion syndrome · Del(2)(q33.1) · Monosomy 2q33.1
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
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000SATB2-associated syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
21- Abnormal facial shape
- Abnormality of the dentition
- Aggressive behavior
- Atypical behavior
- Bilateral talipes equinovarus
- Cleft palate
- Decreased testicular size
- Drooling
- Feeding difficulties in infancy
- High forehead
- High palate
- Hypermetropia
- Hypotonia
- Intellectual disability, severe
- Microcephaly
- Micrognathia
- Nasogastric tube feeding in infancy
- Prominent forehead
- Prominent nasal bridge
- Severe global developmental delay
- Sparse hair
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.