Overview
Difference of sex development-intellectual disability syndrome (also known as DSD-intellectual disability syndrome, or sometimes referred to by older terminology as 'sex reversal-intellectual disability syndrome') is an extremely rare genetic condition that affects both sexual development and brain function. People with this condition are born with differences in their sex development, meaning their reproductive organs, hormones, or chromosomes may not follow typical male or female patterns. This can include ambiguous genitalia, where the external sex organs do not clearly appear male or female, or internal reproductive structures that do not match the expected pattern for the person's chromosomal sex. In addition to differences in sex development, individuals with this syndrome experience intellectual disability, which can range from mild to severe. This means they may have difficulty with learning, reasoning, problem-solving, and adaptive behavior. Some affected individuals may also have other features such as unusual facial characteristics, growth delays, or other developmental differences. Because this condition is so rare, treatment is highly individualized. Management typically involves a team of specialists who address the various aspects of the condition, including hormone therapy when needed, surgical options for genital differences if appropriate, educational support for intellectual disability, and psychological support for the individual and family. There is currently no cure, and treatment focuses on improving quality of life and supporting development.
Also known as:
Key symptoms:
Ambiguous genitalia at birthIntellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingUnusual facial featuresShort stature or growth delaysDifferences in internal reproductive organsHormonal imbalancesLearning difficultiesBehavioral challengesPossible seizuresPossible heart defects
Clinical phenotype terms (23)— hover any for plain English
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 Difference of sex development-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Difference of sex development-intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Difference of sex development-intellectual disability syndrome.
Community
No community posts yet. Be the first to share your experience with Difference of sex development-intellectual disability syndrome.
Start the conversation →Latest news about Difference of sex development-intellectual disability syndrome
No recent news articles for Difference of sex development-intellectual disability 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 specific genetic cause of my child's condition, and should we pursue further genetic testing?,What developmental therapies should we start, and how soon?,Will my child need hormone therapy, and if so, when should it begin?,Are there any surgical options we should consider, and what are the risks and benefits?,What is the expected level of intellectual disability, and how can we best support learning?,Are there other family members who should be tested?,Can you connect us with support groups or other families with similar conditions?
Common questions about Difference of sex development-intellectual disability syndrome
What is Difference of sex development-intellectual disability syndrome?
Difference of sex development-intellectual disability syndrome (also known as DSD-intellectual disability syndrome, or sometimes referred to by older terminology as 'sex reversal-intellectual disability syndrome') is an extremely rare genetic condition that affects both sexual development and brain function. People with this condition are born with differences in their sex development, meaning their reproductive organs, hormones, or chromosomes may not follow typical male or female patterns. This can include ambiguous genitalia, where the external sex organs do not clearly appear male or femal
At what age does Difference of sex development-intellectual disability syndrome typically begin?
Typical onset of Difference of sex development-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Difference of sex development-intellectual disability syndrome?
1 specialists and care centers treating Difference of sex development-intellectual disability syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.