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Start free with EleplanNeurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
ORPHA:352665Etiological subtype
Also called 9q21.3 microdeletion syndrome · Del(9)(q21.3)
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
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Etiological subtype
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
Common30–79%
26- Abnormal heart morphology
- Broad nasal tip
- Bruxism
- Craniosynostosis
- Cryptorchidism
- Delayed ability to walk
- Dental malocclusion
- Downturned corners of mouth
- Exaggerated median tongue furrow
- Gray matter heterotopia
- Growth delay
- Hip dysplasia
- Hydronephrosis
- Inability to walk
- Increased nuchal translucency
- Intellectual disability, moderate
- Intellectual disability, severe
- Long face
- Macroglossia
- Microcephaly
- Open mouth
- Poor speech
- Scoliosis
- Ventricular septal defect
- Vesicoureteral reflux
- Wide nasal bridge
Sometimes5–29%
62- Abnormality of primary teeth
- Abnormal optic nerve morphology
- Agenesis of corpus callosum
- Aortic aneurysm
- Areflexia
- Atrial septal defect
- Bicuspid aortic valve
- Bifid tongue
and 54 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.
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