Overview
Hypospadias-intellectual disability, Goldblatt type syndrome (also sometimes called Goldblatt syndrome) is a very rare genetic condition that affects males. It combines two main features: hypospadias and intellectual disability. Hypospadias is a birth difference where the opening of the urethra (the tube that carries urine out of the body) is not at the tip of the penis but somewhere along the underside. This can affect urination and, later in life, fertility. The intellectual disability in this syndrome ranges from mild to moderate, meaning affected individuals may have some difficulty with learning, communication, and daily tasks, but the degree varies from person to person. This condition is present from birth and is thought to be caused by changes in a person's genes, though the exact gene responsible has not been clearly identified in all cases. Because it is so rare, most of what doctors know comes from a very small number of reported families and individuals. There is no cure for Goldblatt syndrome. Treatment focuses on managing the individual symptoms. Surgery can correct hypospadias in most cases, and educational support, speech therapy, and occupational therapy can help people with intellectual disability reach their full potential. Early diagnosis and a team of specialists working together give the best outcomes.
Also known as:
Key symptoms:
Hypospadias — the urinary opening is on the underside of the penis rather than at the tipIntellectual disability — difficulty with learning, reasoning, and problem-solvingDelayed speech and language developmentDelayed developmental milestones such as sitting, walking, or talking later than expectedShort stature — being shorter than average for ageAbnormal positioning or appearance of the genitalsPossible behavioral challenges
Clinical phenotype terms (15)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypospadias-intellectual disability, Goldblatt type syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypospadias-intellectual disability, Goldblatt type 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-intellectual disability, Goldblatt type 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-intellectual disability, Goldblatt type syndrome.
Community
No community posts yet. Be the first to share your experience with Hypospadias-intellectual disability, Goldblatt type syndrome.
Start the conversation →Latest news about Hypospadias-intellectual disability, Goldblatt type syndrome
No recent news articles for Hypospadias-intellectual disability, Goldblatt type 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 genetic tests should we do to confirm the diagnosis and find the gene responsible?,What is the best timing and approach for hypospadias surgery for my child?,What early intervention services should we start right away to support development?,What is the likely degree of intellectual disability, and how will it affect my child's future independence?,What is the chance that other children in our family could be affected?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see them?
Common questions about Hypospadias-intellectual disability, Goldblatt type syndrome
What is Hypospadias-intellectual disability, Goldblatt type syndrome?
Hypospadias-intellectual disability, Goldblatt type syndrome (also sometimes called Goldblatt syndrome) is a very rare genetic condition that affects males. It combines two main features: hypospadias and intellectual disability. Hypospadias is a birth difference where the opening of the urethra (the tube that carries urine out of the body) is not at the tip of the penis but somewhere along the underside. This can affect urination and, later in life, fertility. The intellectual disability in this syndrome ranges from mild to moderate, meaning affected individuals may have some difficulty with l
How is Hypospadias-intellectual disability, Goldblatt type syndrome inherited?
Hypospadias-intellectual disability, Goldblatt type syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypospadias-intellectual disability, Goldblatt type syndrome typically begin?
Typical onset of Hypospadias-intellectual disability, Goldblatt type syndrome is neonatal. Age of onset can vary across affected individuals.