Overview
Hao-Fountain syndrome due to 16p13.2 microdeletion is a rare genetic condition caused by a tiny missing piece of chromosome 16. This missing segment — called a microdeletion — affects how the brain and body develop, leading to a range of challenges that usually become noticeable in early childhood. The condition is sometimes referred to simply as Hao-Fountain syndrome or 16p13.2 deletion syndrome. The most common effects involve the brain and nervous system. Children with this condition often have intellectual disability, meaning they may learn more slowly than their peers. Many also experience delays in speech and language development, and some have behavioral challenges such as attention difficulties or features of autism spectrum disorder. Seizures are reported in some individuals. Physical features can vary widely from person to person. There is currently no cure for Hao-Fountain syndrome. Treatment focuses on managing symptoms and supporting development. This typically includes speech therapy, occupational therapy, physical therapy, special education support, and medications to control seizures if needed. With the right support, many individuals can make meaningful progress and improve their quality of life. Early intervention is especially important and can make a significant difference in long-term outcomes.
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting or walking lateBehavioral challenges including attention problems or hyperactivityFeatures of autism spectrum disorderSeizures or epilepsyLow muscle tone (hypotonia)Feeding difficulties in infancyMild differences in facial featuresDifficulty with social interactions
Clinical phenotype terms (50)— 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 Hao-Fountain syndrome due to 16p13.2 microdeletion.
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Specialists
View all specialists →No specialists are currently listed for Hao-Fountain syndrome due to 16p13.2 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 Hao-Fountain syndrome due to 16p13.2 microdeletion.
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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 development?,Should other family members be tested for this deletion?,What therapies do you recommend starting first, and how soon should we begin?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies we could participate in?,What educational supports should we ask for at school?,How often should my child be seen by specialists, and which ones are most important to follow up with regularly?
Common questions about Hao-Fountain syndrome due to 16p13.2 microdeletion
What is Hao-Fountain syndrome due to 16p13.2 microdeletion?
Hao-Fountain syndrome due to 16p13.2 microdeletion is a rare genetic condition caused by a tiny missing piece of chromosome 16. This missing segment — called a microdeletion — affects how the brain and body develop, leading to a range of challenges that usually become noticeable in early childhood. The condition is sometimes referred to simply as Hao-Fountain syndrome or 16p13.2 deletion syndrome. The most common effects involve the brain and nervous system. Children with this condition often have intellectual disability, meaning they may learn more slowly than their peers. Many also experien
How is Hao-Fountain syndrome due to 16p13.2 microdeletion inherited?
Hao-Fountain syndrome due to 16p13.2 microdeletion follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hao-Fountain syndrome due to 16p13.2 microdeletion typically begin?
Typical onset of Hao-Fountain syndrome due to 16p13.2 microdeletion is infantile. Age of onset can vary across affected individuals.