9p13 Microdeletion Syndrome C4707097
A rare genetic condition caused by a deletion on chromosome 9p13. Affected individuals may have developmental delays, distinctive facial features, and growth concerns. Management involves supportive care from multiple specialists.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Recurrent seizure activity varying from focal to generalized tonic-clonic seizures.
Seek immediate medical attention for any seizure episode, especially if lasting more than 5 minutes or if it's the first seizure.
Developmental delay
(constitutional)Significant delays in reaching developmental milestones such as sitting, crawling, and walking compared to typical peers.
Frequency: 90-95% of patients
Intellectual disability
(neurologic)Varying degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 85-90% of patients
Microcephaly
(constitutional)Abnormally small head circumference present at birth or developing in early infancy due to reduced brain growth.
Frequency: 80-90% of patients
Distinctive facial features
(constitutional)Characteristic facial appearance including deep-set eyes, prominent nose, thin lips, and abnormal ear shape.
Frequency: 85-95% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy extremities and difficulty with posture and movement.
Frequency: 60-70% of patients
Growth retardation
(constitutional)Failure to thrive with delayed growth in both height and weight during childhood.
Frequency: 70-80% of patients
Hearing loss
(ent)Conductive or sensorineural hearing impairment ranging from mild to moderate severity.
Frequency: 30-40% of patients
Hand anomalies
(musculoskeletal)Structural hand abnormalities including clinodactyly (inward-curved fifth finger), short fingers, or abnormal palm creases.
Frequency: 50-60% of patients
Genital abnormalities
(genitourinary)In males, may include cryptorchidism (undescended testes), hypospadias, or micropenis.
Frequency: 50-60% of male patients
Medication Comparisons
Compare medications used to treat 9p13 Microdeletion Syndrome C4707097. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy