Living with Cryptorchidism-arachnodactyly-intellectual disability syndrome
A rare syndrome with severe intellectual disability, weak muscles, stiff joints, long slender fingers, and genital differences.
Understanding Cryptorchidism-arachnodactyly-intellectual disability syndrome
Features include delayed development, severe intellectual disability, very underdeveloped muscles with little fat under the skin, stiff joints, spine and chest differences, and a smaller lung on one side. People have long slender fingers (arachnodactyly) and genital differences such as undescended testes. Repeated respiratory infections occur. GARD notes there have been no further descriptions in the medical literature since 1970.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone (hypotonia)
- Long slender fingers (arachnodactyly)
- Curved spine (scoliosis, kyphosis)
- Repeated respiratory infections
- Genital differences, such as undescended testes
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, eye disease specialists and genetic 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 name a gene.
Also known as: cryptorchidism, arachnodactyly, intellectual disability syndrome; van benthem driessen hanveld syndrome; van benthem-driessen-hanveld syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cryptorchidism-arachnodactyly-intellectual disability syndrome.
Explore research for Cryptorchidism-arachnodactyly-intellectual disability syndrome
Explore actively recruiting Cryptorchidism-arachnodactyly-intellectual disability syndrome studies with HealthSpark.
Find actively recruiting studies for Cryptorchidism-arachnodactyly-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 Cryptorchidism-arachnodactyly-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 Cryptorchidism-arachnodactyly-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 Cryptorchidism-arachnodactyly-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.