Overview
Arachnodactyly-abnormal ossification-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: arachnodactyly (unusually long, slender fingers and toes that resemble spider legs), abnormal ossification (problems with how bones form and harden), and intellectual disability (difficulties with learning and thinking skills). This condition is sometimes also referred to by its Orphanet designation ORPHA:1129. Because this syndrome is so rare, only a very small number of cases have been described in the medical literature. Affected individuals typically show skeletal abnormalities that are noticeable from birth or early childhood, including the characteristic long fingers and toes, along with unusual bone development. Intellectual disability can range from mild to more significant, affecting a child's ability to reach developmental milestones at typical ages. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and may include physical therapy, occupational therapy, special education support, and regular monitoring of bone and skeletal health. A team of specialists typically works together to provide the best care for affected individuals.
Also known as:
Key symptoms:
Unusually long and slender fingers and toesAbnormal bone formation and hardeningIntellectual disability or learning difficultiesDelayed developmental milestonesJoint looseness or hypermobilitySkeletal abnormalitiesUnusual facial featuresShort stature or growth delaysThin body buildDelayed speech development
Clinical phenotype terms (15)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Arachnodactyly-abnormal ossification-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Arachnodactyly-abnormal ossification-intellectual disability syndrome.
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 Arachnodactyly-abnormal ossification-intellectual disability syndrome.
Community
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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 specific tests can help confirm this diagnosis in my child?,Should we pursue whole exome or whole genome sequencing to look for the genetic cause?,What therapies should we start right away to support my child's development?,How often should my child have skeletal or bone health evaluations?,What is the expected range of intellectual disability, and how can we best support learning?,Are there any clinical trials or research studies we could participate in?,What is the chance of having another child with the same condition?
Common questions about Arachnodactyly-abnormal ossification-intellectual disability syndrome
What is Arachnodactyly-abnormal ossification-intellectual disability syndrome?
Arachnodactyly-abnormal ossification-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: arachnodactyly (unusually long, slender fingers and toes that resemble spider legs), abnormal ossification (problems with how bones form and harden), and intellectual disability (difficulties with learning and thinking skills). This condition is sometimes also referred to by its Orphanet designation ORPHA:1129. Because this syndrome is so rare, only a very small number of cases have been described in the me
How is Arachnodactyly-abnormal ossification-intellectual disability syndrome inherited?
Arachnodactyly-abnormal ossification-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Arachnodactyly-abnormal ossification-intellectual disability syndrome typically begin?
Typical onset of Arachnodactyly-abnormal ossification-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.