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Start free with EleplanMonosomy 9q22.3 syndrome
ORPHA:77301Malformation syndrome
Also called Microdeletion 9q22.3
What it is
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
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%
31- Abnormality of the vertebral column
- Abnormal rib morphology
- Basal cell carcinoma
- Calcification of falx cerebri
- Cardiac fibroma
- Cataract
- Epicanthus
- Feeding difficulties
- Global developmental delay
- Hyperactivity
- Hypotonia
- Intellectual disability
- Large for gestational age
- Low-set ears
- Macrocephaly
- Medulloblastoma
- Metopic synostosis
- Microphthalmia
- Narrow mouth
- Odontogenic keratocysts of the jaw
- Orofacial cleft
- Ovarian fibroma
- Palmar pits
- Pectus excavatum
- Plantar pits
- Retinopathy
- Short neck
- Strabismus
- Tall stature
- Trigonocephaly
- Umbilical hernia
Common30–79%
13These 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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