Overview
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is a very rare condition that affects the development of several parts of the body, mainly the hands, urinary tract, and teeth. It is sometimes called by its shorthand description based on its four main features. The condition is present from birth and is caused by changes in how the body develops before a baby is born. The most noticeable features include underdeveloped or shortened bones in the forearm (called radial hypoplasia), thumbs that have three bones instead of the usual two (triphalangeal thumbs), a urinary opening that is not in the normal position in males (hypospadias), and a gap between the two upper front teeth (maxillary diastema). These features can vary in how severe they are from person to person. Some individuals may have all four features, while others may have only some of them. Treatment focuses on managing each feature separately. Surgery can correct hypospadias and may help with hand function. Dental care can address the tooth gap. A team of specialists is usually needed to provide the best care. With proper support, many people with this condition can live full and active lives.
Also known as:
Key symptoms:
Shortened or underdeveloped forearm bones (radial hypoplasia)Thumbs with three bones instead of two (triphalangeal thumbs)Urinary opening located on the underside of the penis instead of the tip (hypospadias)Gap between the two upper front teeth (maxillary diastema)Reduced grip strength or limited hand functionPossible differences in the shape or size of the thumbPossible difficulty with fine motor tasks due to hand differences
Clinical phenotype terms (6)— hover any for plain English
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 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema 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 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema 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 is the best timing for hypospadias surgery, and what should we expect during recovery?,Should we pursue genetic testing to find the specific gene change causing this condition?,What type of hand therapy or surgery might help improve my child's hand function?,Are there other family members who should be evaluated or tested?,What specialists should be part of my child's care team, and how often should we see each one?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt us to seek urgent medical care?
Common questions about Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
What is Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome?
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is a very rare condition that affects the development of several parts of the body, mainly the hands, urinary tract, and teeth. It is sometimes called by its shorthand description based on its four main features. The condition is present from birth and is caused by changes in how the body develops before a baby is born. The most noticeable features include underdeveloped or shortened bones in the forearm (called radial hypoplasia), thumbs that have three bones instead of the usual two (triphalangeal thumbs), a urin
How is Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome inherited?
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome typically begin?
Typical onset of Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is neonatal. Age of onset can vary across affected individuals.