Overview
4q25 proximal deletion syndrome is a rare chromosomal condition caused by a small missing piece (deletion) of chromosome 4 in a region called 4q25. Chromosomes are the structures inside our cells that carry our genetic instructions, and when a piece is missing, it can affect how the body develops and functions. This condition is sometimes referred to by its chromosomal location, such as 'deletion 4q25' or 'monosomy 4q25 proximal.' People with this syndrome often have a range of features that can vary widely from person to person. Common effects include intellectual disability or learning difficulties, delayed speech and language development, and differences in physical features of the face. Some individuals may also have heart defects present at birth, problems with muscle tone, and behavioral challenges. Because the deleted region can vary in size between individuals, the severity and combination of symptoms can differ quite a bit. There is currently no cure for 4q25 proximal deletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically involves early intervention programs, speech therapy, occupational therapy, physical therapy, and educational support. Heart defects, if present, may require surgery or medical management. With the right support, many individuals can make meaningful progress in their development and quality of life.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDistinctive facial features such as widely spaced eyes or a broad nasal bridgeLow muscle tone (hypotonia) in infancyHeart defects present at birth (congenital heart defects)Delayed motor milestones such as sitting or walking later than expectedBehavioral challenges or autism-like featuresShort stature or slow growthFeeding difficulties in infancyHearing loss in some individuals
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 4q25 proximal deletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 4q25 proximal deletion 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 4q25 proximal deletion 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 specific genes are affected by my child's deletion, and what does that mean for their symptoms?,What therapies should we start right away, and how often should they happen?,Does my child need a heart evaluation, and how often should their heart be checked?,Should other family members be tested to see if this deletion runs in the family?,What developmental milestones should we watch for, and when should we be concerned?,Are there any clinical trials or research studies our family could participate in?,What support services or early intervention programs are available in our area?
Common questions about 4q25 proximal deletion syndrome
What is 4q25 proximal deletion syndrome?
4q25 proximal deletion syndrome is a rare chromosomal condition caused by a small missing piece (deletion) of chromosome 4 in a region called 4q25. Chromosomes are the structures inside our cells that carry our genetic instructions, and when a piece is missing, it can affect how the body develops and functions. This condition is sometimes referred to by its chromosomal location, such as 'deletion 4q25' or 'monosomy 4q25 proximal.' People with this syndrome often have a range of features that can vary widely from person to person. Common effects include intellectual disability or learning diff
At what age does 4q25 proximal deletion syndrome typically begin?
Typical onset of 4q25 proximal deletion syndrome is neonatal. Age of onset can vary across affected individuals.