Overview
2p21 microdeletion syndrome without cystinuria is an extremely rare genetic condition caused by a small missing piece (deletion) on the short arm of chromosome 2, specifically at position 2p21. This deletion affects certain genes in that region but does not include the SLC3A1 gene, which means that unlike the related 2p21 deletion syndrome, patients with this form do not develop cystinuria (a kidney stone condition caused by excess cystine in the urine). The syndrome primarily affects brain development and can lead to intellectual disability, developmental delays, and other neurological problems. Children with this condition may show delays in reaching milestones such as sitting, walking, and talking. They may also have distinctive facial features, feeding difficulties in infancy, and low muscle tone (hypotonia). Some individuals may experience seizures. The severity of symptoms can vary depending on the exact size of the deletion and which genes are affected. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development through therapies such as speech therapy, physical therapy, and occupational therapy. Early intervention programs can help children reach their full potential. Seizures, if present, are managed with anti-epileptic medications. Because this condition is so rare, management is typically guided by a team of specialists who tailor care to each patient's specific needs.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones like walkingLow muscle tone (floppiness)Feeding difficulties in infancySeizuresDistinctive facial featuresLearning difficultiesBehavioral challengesPoor coordinationGrowth delays
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 2p21 microdeletion syndrome without cystinuria.
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Specialists
View all specialists →No specialists are currently listed for 2p21 microdeletion syndrome without cystinuria.
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 2p21 microdeletion syndrome without cystinuria.
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 of my child's deletion and which genes are affected?,Was this deletion inherited or did it happen for the first time in my child?,What developmental therapies should we start right away?,Should we be watching for seizures, and what should we do if one occurs?,How often should my child have developmental and neurological check-ups?,Are there any genetic implications for future pregnancies in our family?,Are there any research studies or registries we should consider joining?
Common questions about 2p21 microdeletion syndrome without cystinuria
What is 2p21 microdeletion syndrome without cystinuria?
2p21 microdeletion syndrome without cystinuria is an extremely rare genetic condition caused by a small missing piece (deletion) on the short arm of chromosome 2, specifically at position 2p21. This deletion affects certain genes in that region but does not include the SLC3A1 gene, which means that unlike the related 2p21 deletion syndrome, patients with this form do not develop cystinuria (a kidney stone condition caused by excess cystine in the urine). The syndrome primarily affects brain development and can lead to intellectual disability, developmental delays, and other neurological proble
At what age does 2p21 microdeletion syndrome without cystinuria typically begin?
Typical onset of 2p21 microdeletion syndrome without cystinuria is infantile. Age of onset can vary across affected individuals.