Overview
Jawad syndrome is an extremely rare genetic condition that affects multiple parts of the body. It was first described in a small number of families and is characterized by a combination of skeletal abnormalities, intellectual disability, and distinctive facial features. People with Jawad syndrome may have abnormalities of the hands and feet, including extra fingers or toes (polydactyly), short stature, and unusual facial characteristics. The condition is also associated with problems affecting the brain and nervous system, which can lead to developmental delays and learning difficulties. Because Jawad syndrome is so rare, there is limited information about the full range of symptoms and how the disease progresses over time. The condition is believed to be present from birth, and signs are typically noticed in infancy or early childhood. There is currently no cure for Jawad syndrome, and treatment focuses on managing individual symptoms. This may include orthopedic care for bone and joint problems, special education support for learning difficulties, and regular monitoring by a team of specialists. Early intervention with therapies such as physical therapy, occupational therapy, and speech therapy can help affected individuals reach their full potential. Genetic counseling is recommended for families affected by this condition to understand the chances of passing it on to future children.
Key symptoms:
Extra fingers or toes (polydactyly)Short statureIntellectual disabilityDevelopmental delaysUnusual facial featuresAbnormalities of the hands and feetSkeletal abnormalitiesSpeech delaysLearning difficultiesLow muscle tone
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 Jawad syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Jawad syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Jawad 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 Jawad 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 symptoms should I watch for as my child grows?,What therapies are recommended and how often should they occur?,Is genetic testing available to confirm the diagnosis?,What is the chance of having another child with this condition?,Are there any clinical trials or research studies we can participate in?,What educational support services are available for my child?,How often should we schedule follow-up appointments with specialists?
Common questions about Jawad syndrome
What is Jawad syndrome?
Jawad syndrome is an extremely rare genetic condition that affects multiple parts of the body. It was first described in a small number of families and is characterized by a combination of skeletal abnormalities, intellectual disability, and distinctive facial features. People with Jawad syndrome may have abnormalities of the hands and feet, including extra fingers or toes (polydactyly), short stature, and unusual facial characteristics. The condition is also associated with problems affecting the brain and nervous system, which can lead to developmental delays and learning difficulties. Beca
How is Jawad syndrome inherited?
Jawad syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Jawad syndrome typically begin?
Typical onset of Jawad syndrome is neonatal. Age of onset can vary across affected individuals.