Overview
Vaginal atresia is a rare condition present from birth where the vagina is either completely absent or partially blocked due to abnormal development before birth. It is sometimes called vaginal aplasia or congenital vaginal obstruction. In vaginal atresia, the lower part of the vagina fails to form properly, which means the vaginal canal may be very short, closed off, or entirely missing. The uterus and ovaries may or may not be affected depending on the underlying cause. Most girls with vaginal atresia are not diagnosed until puberty, when they do not get their first period even though they may experience monthly cramping. This happens because menstrual blood has nowhere to exit the body. In some cases, blood can build up in the uterus or vagina, causing pain and swelling. In other cases, the condition is discovered during a routine physical exam in infancy or childhood. Treatment usually involves surgery or gradual dilation techniques to create or open the vaginal canal. With proper treatment, many people with vaginal atresia can have a satisfying sexual life and, in some cases, carry a pregnancy if the uterus is present and healthy. Early diagnosis and care from a specialist team are very important for the best outcomes.
Key symptoms:
No menstrual periods by age 15-16 despite normal breast developmentMonthly pelvic pain or cramping without bleedingSwelling or a bulging sensation in the lower abdomen or pelvisDifficulty or inability to have vaginal intercourseA very short or absent vaginal openingAbdominal or pelvic mass caused by trapped menstrual bloodLower back painPain with urination in some casesFeeling of pressure in the pelvis
Clinical phenotype terms (12)— hover any for plain English
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Vaginal atresia.
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Specialists
View all specialists →No specialists are currently listed for Vaginal atresia.
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 Vaginal atresia.
Community
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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 type of vaginal atresia does my child or I have, and are the uterus and ovaries present?,What treatment options are available, and which do you recommend for my specific situation?,Will I or my child be able to have children in the future?,What are the risks and expected outcomes of surgery versus dilation therapy?,Should I have genetic testing, and could this condition affect other family members?,What psychological support services do you recommend alongside medical treatment?,How often will follow-up appointments be needed, and what should we watch for at home?
Common questions about Vaginal atresia
What is Vaginal atresia?
Vaginal atresia is a rare condition present from birth where the vagina is either completely absent or partially blocked due to abnormal development before birth. It is sometimes called vaginal aplasia or congenital vaginal obstruction. In vaginal atresia, the lower part of the vagina fails to form properly, which means the vaginal canal may be very short, closed off, or entirely missing. The uterus and ovaries may or may not be affected depending on the underlying cause. Most girls with vaginal atresia are not diagnosed until puberty, when they do not get their first period even though they
How is Vaginal atresia inherited?
Vaginal atresia follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Vaginal atresia typically begin?
Typical onset of Vaginal atresia is neonatal. Age of onset can vary across affected individuals.