Living with Disorder of sex development-intellectual disability syndrome
A rare syndrome present from birth with intellectual disability, short stature, differences in genital development, and eye differences.
Understanding Disorder of sex development-intellectual disability syndrome
Features include varying degrees of intellectual disability, short stature, and severe genital differences that can make sex unclear at birth. Eye differences such as small eyes and coloboma occur. Spina bifida, an absent anal opening, and hearing loss have also been described. GARD notes no further descriptions since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Underactive sex glands (hypogonadism)
- Deep-set eyes
- Thin upper lip and downturned mouth
- Backward-rotated ears
- Rounded upper back (kyphosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with InterConnect
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't list a specific gene or inheritance pattern.
Also known as: pseudohermaphroditism-intellectual disability syndrome; verloes syndrome; verloes-gillerot-fryns syndrome
Patient organizations
- InterConnectDisorder of sex development-intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Disorder of sex development-intellectual disability syndrome.
Explore research for Disorder of sex development-intellectual disability syndrome
Explore actively recruiting Disorder of sex development-intellectual disability syndrome studies with HealthSpark.
Find actively recruiting studies for Disorder of sex development-intellectual disability syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Disorder of sex development-intellectual disability syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Disorder of sex development-intellectual disability syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Disorder of sex development-intellectual disability syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.