Overview
9q31.1q31.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (deletion) of chromosome 9 in the region labeled q31.1 to q31.3. This syndrome is sometimes referred to as 9q31 deletion syndrome or chromosome 9q31.1-q31.3 deletion syndrome. Because a section of genetic material is lost, several genes that are important for normal development are affected. Children born with this condition typically show developmental delays, intellectual disability, and distinctive facial features. Many affected individuals have problems with speech and language development, low muscle tone (hypotonia), and feeding difficulties in infancy. Some children may also have heart defects, skeletal abnormalities, or problems with other organ systems. Growth may be slower than expected, and short stature is sometimes observed. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each individual's symptoms through therapies such as speech therapy, physical therapy, occupational therapy, and special education support. Heart defects or other structural problems may require surgical intervention. Early intervention programs can help children reach their fullest potential. A team of specialists typically works together to provide comprehensive care tailored to each patient's needs.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentLow muscle tone (floppiness)Distinctive facial featuresFeeding difficulties in infancyShort stature or slow growthDelayed motor milestones such as sitting and walkingHeart defectsSkeletal abnormalitiesBehavioral difficultiesSeizures in some casesSmall head size (microcephaly)Vision or eye problems
Clinical phenotype terms (22)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 9q31.1q31.3 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 9q31.1q31.3 microdeletion syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to 9q31.1q31.3 microdeletion syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact size and location of my child's deletion, and how might that affect their symptoms?,Was this deletion inherited or did it happen spontaneously, and should other family members be tested?,What early intervention therapies should we start right away?,Does my child need a heart evaluation or other organ screening?,What developmental milestones should we watch for, and when should we be concerned?,Are there any clinical studies or research programs we could participate in?,What resources or support groups are available for families with this condition?
Common questions about 9q31.1q31.3 microdeletion syndrome
What is 9q31.1q31.3 microdeletion syndrome?
9q31.1q31.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (deletion) of chromosome 9 in the region labeled q31.1 to q31.3. This syndrome is sometimes referred to as 9q31 deletion syndrome or chromosome 9q31.1-q31.3 deletion syndrome. Because a section of genetic material is lost, several genes that are important for normal development are affected. Children born with this condition typically show developmental delays, intellectual disability, and distinctive facial features. Many affected individuals have problems with speech and language develo
How is 9q31.1q31.3 microdeletion syndrome inherited?
9q31.1q31.3 microdeletion syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 9q31.1q31.3 microdeletion syndrome typically begin?
Typical onset of 9q31.1q31.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.