Overview
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare genetic condition caused by a small missing piece (microdeletion) on the short arm of chromosome 10, specifically in the region between bands p11.21 and p12.31. This syndrome is sometimes referred to as 10p11.21-p12.31 microdeletion syndrome. Because this chromosomal region contains several important genes, losing a copy of them can affect how the brain and body develop. People with this condition typically show distinctive facial features (facial dysmorphism), delays in reaching developmental milestones such as sitting, walking, and talking, and various behavioral challenges. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences. Developmental delay can range from mild to moderate, and behavioral issues may include attention difficulties, hyperactivity, anxiety, or features on the autism spectrum. There is currently no cure for this condition. Treatment focuses on managing individual symptoms through therapies such as speech therapy, occupational therapy, physical therapy, and behavioral support. Early intervention programs can help children reach their full potential. Because the condition affects multiple body systems, a team of specialists is usually needed to provide comprehensive care. Each person's experience with this syndrome can vary depending on the exact size and location of the deletion.
Also known as:
Key symptoms:
Distinctive facial featuresDelayed speech and language developmentDelayed motor milestones like sitting and walkingIntellectual disability ranging from mild to moderateBehavioral problems such as hyperactivity or attention difficultiesFeatures on the autism spectrumLow muscle tone (floppiness in infancy)Feeding difficulties in early lifeShort stature or slow growthAnxiety or emotional difficultiesLearning difficulties in schoolWidely spaced eyesBroad or flat nasal bridgeSmall or receding chin
Clinical phenotype terms (46)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion.
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Specialists
View all specialists →No specialists are currently listed for Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion.
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 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion.
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Start the conversation →Latest news about Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact size and location of my child's chromosomal deletion, and what genes are affected?,Was this deletion inherited or did it happen for the first time in my child?,What therapies should we start right away, and how often should they occur?,Are there any associated medical problems we should screen for, such as heart or growth issues?,What educational supports and accommodations should we request at school?,How will this condition affect my child's development over time?,Should other family members be tested for this chromosomal change?
Common questions about Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
What is Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion?
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare genetic condition caused by a small missing piece (microdeletion) on the short arm of chromosome 10, specifically in the region between bands p11.21 and p12.31. This syndrome is sometimes referred to as 10p11.21-p12.31 microdeletion syndrome. Because this chromosomal region contains several important genes, losing a copy of them can affect how the brain and body develop. People with this condition typically show distinctive facial features (facial dysmorphism), delays in reac
How is Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion inherited?
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion typically begin?
Typical onset of Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is infantile. Age of onset can vary across affected individuals.