Overview
Hypospadias-hypertelorism-coloboma and deafness syndrome is an extremely rare genetic condition that affects multiple parts of the body at the same time. The name describes its main features: hypospadias (where the opening of the urethra is on the underside of the penis rather than at the tip), hypertelorism (eyes that are spaced wider apart than usual), coloboma (a gap or notch in part of the eye structure, which can affect vision), and sensorineural deafness (hearing loss caused by problems in the inner ear or hearing nerve). Because this syndrome involves several organ systems, children born with it may face challenges related to their urinary tract, vision, hearing, and sometimes other developmental areas. This condition is present from birth, and the features are usually noticed in the newborn period or early infancy. Some affected individuals may also have additional findings such as facial differences, developmental delays, or other birth defects. Because the syndrome is so rare, there is limited information about the full range of symptoms and outcomes. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. Surgical correction may be needed for hypospadias and possibly for eye abnormalities. Hearing aids or cochlear implants may help with hearing loss. A team of specialists working together is important to provide the best care for affected children and their families.
Key symptoms:
Opening of the urethra on the underside of the penis (hypospadias)Eyes spaced wider apart than normal (hypertelorism)Gap or notch in the eye structure (coloboma)Hearing loss or deafnessVision problemsUnusual facial featuresPossible developmental delaysPossible genital abnormalities beyond hypospadiasPossible kidney or urinary tract differences
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 Hypospadias-hypertelorism-coloboma and deafness syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypospadias-hypertelorism-coloboma and deafness syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hypospadias-hypertelorism-coloboma and 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 Hypospadias-hypertelorism-coloboma and deafness syndrome.
Community
No community posts yet. Be the first to share your experience with Hypospadias-hypertelorism-coloboma and deafness syndrome.
Start the conversation →Latest news about Hypospadias-hypertelorism-coloboma and deafness syndrome
No recent news articles for Hypospadias-hypertelorism-coloboma and deafness syndrome.
Follow this condition to be notified when news becomes available.
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 severity of my child's hearing loss, and what are the best options for hearing support?,How much does the coloboma affect my child's vision, and will it change over time?,When is the best time for hypospadias surgery, and what should we expect during recovery?,Should we pursue genetic testing, and what might the results tell us?,Are there any kidney or other organ problems we should screen for?,What early intervention services should we start right away?,Are there other families or support groups for this condition?
Common questions about Hypospadias-hypertelorism-coloboma and deafness syndrome
What is Hypospadias-hypertelorism-coloboma and deafness syndrome?
Hypospadias-hypertelorism-coloboma and deafness syndrome is an extremely rare genetic condition that affects multiple parts of the body at the same time. The name describes its main features: hypospadias (where the opening of the urethra is on the underside of the penis rather than at the tip), hypertelorism (eyes that are spaced wider apart than usual), coloboma (a gap or notch in part of the eye structure, which can affect vision), and sensorineural deafness (hearing loss caused by problems in the inner ear or hearing nerve). Because this syndrome involves several organ systems, children bor
At what age does Hypospadias-hypertelorism-coloboma and deafness syndrome typically begin?
Typical onset of Hypospadias-hypertelorism-coloboma and deafness syndrome is neonatal. Age of onset can vary across affected individuals.