Overview
Partial deletion of the short arm of chromosome 12 syndrome is a rare chromosomal disorder in which a piece of genetic material is missing from the short arm (called the 'p' arm) of chromosome 12. Because this missing segment can vary in size and location from person to person, the symptoms and severity of the condition can differ widely. This condition is sometimes referred to as 12p deletion syndrome or partial monosomy 12p. The short arm of chromosome 12 contains many important genes that guide normal growth and development. When some of these genes are missing, it can lead to developmental delays, intellectual disability, distinctive facial features, growth problems, and sometimes birth defects affecting the heart or other organs. Some children may have low muscle tone (floppiness), feeding difficulties in infancy, and speech or language delays. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This may include early intervention programs, speech therapy, physical therapy, occupational therapy, and special education services. Heart defects or other structural problems may require surgical correction. Regular follow-up with a team of specialists is important to monitor growth, development, and any associated medical issues. With appropriate support, many individuals can make meaningful developmental progress, though the outlook depends heavily on the size and location of the deleted segment.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityDistinctive facial featuresLow muscle tone (floppiness)Short stature or growth delaySpeech and language delaysFeeding difficulties in infancyHeart defectsSmall head sizeWidely spaced eyesFlat nasal bridgeBehavioral challengesHearing problemsVision problemsSeizures in some cases
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 Partial deletion of the short arm of chromosome 12 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Partial deletion of the short arm of chromosome 12 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 Partial deletion of the short arm of chromosome 12 syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 what does that mean for their development?,What early intervention services should we start right away?,Are there any heart defects or other organ problems we need to monitor?,How often should we schedule developmental assessments?,Should other family members be tested for chromosomal changes?,What is the long-term outlook for my child's independence and quality of life?,Are there any clinical trials or research studies we should know about?
Common questions about Partial deletion of the short arm of chromosome 12 syndrome
What is Partial deletion of the short arm of chromosome 12 syndrome?
Partial deletion of the short arm of chromosome 12 syndrome is a rare chromosomal disorder in which a piece of genetic material is missing from the short arm (called the 'p' arm) of chromosome 12. Because this missing segment can vary in size and location from person to person, the symptoms and severity of the condition can differ widely. This condition is sometimes referred to as 12p deletion syndrome or partial monosomy 12p. The short arm of chromosome 12 contains many important genes that guide normal growth and development. When some of these genes are missing, it can lead to developmenta
At what age does Partial deletion of the short arm of chromosome 12 syndrome typically begin?
Typical onset of Partial deletion of the short arm of chromosome 12 syndrome is neonatal. Age of onset can vary across affected individuals.