Living with Arachnodactyly-intellectual disability-dysmorphism syndrome
A rare syndrome present from birth with long slender fingers, distinctive facial features, and intellectual disability.
Understanding Arachnodactyly-intellectual disability-dysmorphism syndrome
People have a long, narrow, triangular face, a prominent forehead, wide-set eyes, thin lips, and a tall, slim build with long fingers (a marfanoid look). Other features can include extra thumb bones, hyperextensible joints, and low muscle tone. Seizures and a heart valve leak have been reported in some. GARD notes there have been no further descriptions in the medical literature since 1995.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but its summary describes these features:
- Moderate to severe intellectual disability
- Long, slender fingers (arachnodactyly)
- Long, narrow, triangular face
- Wide-set eyes (hypertelorism)
- Low muscle tone and very flexible joints
- Seizures in some people
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 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); 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 (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: arachnodactyly and intellectual disability with facial dysmorphism syndrome; de die-smulders-vles-fryns syndrome; de die, smulders, vles, fryns syndrome; die smulders vles fryns 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 Arachnodactyly-intellectual disability-dysmorphism syndrome.
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