Overview
Hypertelorism-preauricular sinus-punctal pits-deafness syndrome is an extremely rare genetic condition that affects several parts of the body from birth. The name describes its main features: hypertelorism means the eyes are spaced wider apart than usual; preauricular sinuses are small holes or pits located just in front of the ears; punctal pits are tiny abnormal openings near the tear ducts at the inner corners of the eyes; and deafness refers to hearing loss, which can range from mild to severe. This syndrome is sometimes grouped among branchio-oto-renal spectrum disorders because it shares overlapping features involving the ears and face. Because this condition is so rare, the medical literature on it is very limited. The syndrome appears to be present at birth, and the combination of these specific facial and ear features along with hearing loss is what helps doctors recognize it. Hearing loss may be sensorineural (related to the inner ear or hearing nerve), conductive (related to the middle or outer ear), or mixed. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms. Hearing aids or cochlear implants may help with hearing loss. Preauricular sinuses may need surgical treatment if they become infected. Tear duct abnormalities related to punctal pits can sometimes cause tearing problems that may also require medical attention. Early intervention with hearing support and speech therapy can make a significant difference in a child's development.
Key symptoms:
Eyes spaced wider apart than normalSmall pits or holes in front of the earsTiny pits near the tear ducts at the inner corners of the eyesHearing loss that may be partial or completeExcessive tearing or watery eyesRecurrent infections of preauricular sinusesPossible speech and language delays due to hearing loss
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypertelorism-preauricular sinus-punctual pits-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypertelorism-preauricular sinus-punctual pits-deafness 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 Hypertelorism-preauricular sinus-punctual pits-deafness 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
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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 type and degree of hearing loss does my child have, and what is the best hearing support option?,Should we have genetic testing done, and what would it tell us?,How often should hearing and vision be monitored?,Are the preauricular sinuses likely to need surgical removal?,What early intervention services should we start for speech and language development?,Is there a risk that the kidneys or other organs could also be affected?,What is the chance of passing this condition to future children?
Common questions about Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
What is Hypertelorism-preauricular sinus-punctual pits-deafness syndrome?
Hypertelorism-preauricular sinus-punctal pits-deafness syndrome is an extremely rare genetic condition that affects several parts of the body from birth. The name describes its main features: hypertelorism means the eyes are spaced wider apart than usual; preauricular sinuses are small holes or pits located just in front of the ears; punctal pits are tiny abnormal openings near the tear ducts at the inner corners of the eyes; and deafness refers to hearing loss, which can range from mild to severe. This syndrome is sometimes grouped among branchio-oto-renal spectrum disorders because it shares
How is Hypertelorism-preauricular sinus-punctual pits-deafness syndrome inherited?
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypertelorism-preauricular sinus-punctual pits-deafness syndrome typically begin?
Typical onset of Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is neonatal. Age of onset can vary across affected individuals.