Living with Arachnodactyly-abnormal ossification-intellectual disability syndrome
A rare syndrome present from birth with long slender fingers, skull and face differences, low muscle tone, and developmental delay.
Understanding Arachnodactyly-abnormal ossification-intellectual disability syndrome
Features include differences in how the skull bones form, a prominent forehead, shallow eye sockets that make the eyes look bulging, a small lower jaw, and a flat midface. Babies often have feeding difficulties and low muscle tone. Development is delayed, leading to intellectual disability. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long, slender fingers and toes (arachnodactyly)
- Low muscle tone in infancy (floppy infant)
- Feeding difficulties
- Delayed development and intellectual disability
- Prominent forehead and small lower jaw
- Skull sutures that close late
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 (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: arachnodactyly with abnormal ossification and intellectual disability syndrome; kosztolanyi 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-abnormal ossification-intellectual disability syndrome.
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