Overview
Atresia of the urethra is a rare birth defect where the urethra — the tube that carries urine from the bladder out of the body — is either completely closed off or severely narrowed. This means urine cannot drain normally before or after birth. The condition is also sometimes called urethral atresia or congenital urethral obstruction. It is present from birth and is one of the most severe forms of lower urinary tract obstruction. Because the urethra is blocked, urine builds up in the bladder and can back up into the kidneys while the baby is still developing in the womb. This causes the bladder to become very enlarged and can seriously damage the kidneys. It also reduces the amount of amniotic fluid (the fluid surrounding the baby), which is needed for the baby's lungs to develop properly. As a result, many affected babies are also born with underdeveloped lungs, a condition called pulmonary hypoplasia. Treatment requires urgent surgery after birth to create a way for urine to drain. In some cases, doctors may attempt to intervene before birth (fetal intervention) to relieve the blockage and protect kidney and lung development. The overall outlook depends heavily on how much kidney and lung damage occurred before birth. This is a life-threatening condition that requires care from a specialized medical team.
Also known as:
Key symptoms:
No urine output after birthSeverely enlarged or distended bladderSwollen or enlarged abdomen in the newbornKidney damage or failure due to backed-up urineUnderdeveloped lungs (pulmonary hypoplasia)Low amniotic fluid during pregnancy (oligohydramnios)Difficulty breathing at birth due to underdeveloped lungsAbnormal appearance of the face and limbs related to low amniotic fluid (Potter sequence)Urinary tract infections in survivorsChronic kidney disease in survivors
Clinical phenotype terms (14)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsAscor: FDA approved
for the treatment of scurvy in adult and pediatric patients age 5 months and older for whom oral administrtaion is not possible, insufficient or contraindicated
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Atresia of urethra.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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
Financial Resources
1 resourcesAscor
McGuff Pharmaceuticals Inc.
Ascor — Contact McGuff Pharmaceuticals Inc.
Travel Grants
No travel grants are currently matched to Atresia of urethra.
Community
No community posts yet. Be the first to share your experience with Atresia of urethra.
Start the conversation →Latest news about Atresia of urethra
Disease timeline:
New recruiting trial: Standardized Prenatal Clinical Care for LUTO
A new clinical trial is recruiting patients for Atresia of urethra
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.How much kidney function does my child have, and what does that mean for their long-term health?,What surgical options are available, and what is the expected timeline for procedures?,Will my child need dialysis or a kidney transplant in the future?,Are there any dietary restrictions we need to follow to protect kidney function?,What signs should prompt us to go to the emergency room?,Is there any genetic testing recommended for our family, and what is the chance of this happening in a future pregnancy?,What specialists should be part of my child's long-term care team?
Common questions about Atresia of urethra
What is Atresia of urethra?
Atresia of the urethra is a rare birth defect where the urethra — the tube that carries urine from the bladder out of the body — is either completely closed off or severely narrowed. This means urine cannot drain normally before or after birth. The condition is also sometimes called urethral atresia or congenital urethral obstruction. It is present from birth and is one of the most severe forms of lower urinary tract obstruction. Because the urethra is blocked, urine builds up in the bladder and can back up into the kidneys while the baby is still developing in the womb. This causes the bladd
How is Atresia of urethra inherited?
Atresia of urethra follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Atresia of urethra typically begin?
Typical onset of Atresia of urethra is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Atresia of urethra?
Yes — 1 recruiting clinical trial is currently listed for Atresia of urethra on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Atresia of urethra?
1 specialists and care centers treating Atresia of urethra are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Atresia of urethra?
1 patient support program are currently tracked on UniteRare for Atresia of urethra. See the treatments and support programs sections for copay assistance, eligibility, and contact details.