Overview
Arthrogryposis-like hand anomaly and sensorineural deafness syndrome is an extremely rare genetic condition that combines two main features: unusual stiffness and positioning of the hands (similar to what is seen in arthrogryposis, a group of conditions causing joint contractures) along with hearing loss caused by problems with the inner ear or hearing nerve (called sensorineural deafness). The hand abnormalities typically involve the fingers being held in a fixed, bent position with limited ability to straighten or move them normally. The hearing loss can range from moderate to severe and affects the ability to hear sounds clearly. This syndrome was first described in a small number of families, and very few cases have been reported in the medical literature. Because of its rarity, the condition is not well understood, and the exact genetic cause has not been fully identified. Children born with this condition are usually noticed at birth or in early infancy because of the visible hand differences and because they may fail newborn hearing screening tests. There is currently no cure for this syndrome. Treatment focuses on managing symptoms. This may include hearing aids or cochlear implants to help with hearing loss, physical and occupational therapy to improve hand function, and sometimes surgery to correct hand positioning. Early intervention with speech therapy and hearing support is important to help children develop language skills. A team of specialists typically works together to provide the best care for affected individuals.
Also known as:
Key symptoms:
Stiff, bent fingers that are difficult to straightenLimited movement in the hand jointsHearing loss present from birthDifficulty hearing speech and sounds clearlyAbnormal positioning of the handsReduced grip strengthPossible delayed speech development due to hearing lossContractures of the finger jointsThin or underdeveloped hand muscles
Clinical phenotype terms (5)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Arthrogryposis-like hand anomaly-sensorineural deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Arthrogryposis-like hand anomaly-sensorineural deafness 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 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 is the severity of my child's hearing loss, and what hearing devices would work best?,Would my child benefit from cochlear implants?,What type of therapy is recommended to improve hand function?,Is surgery an option to help with the hand contractures?,Should we pursue genetic testing, and what would it tell us?,What is the chance of this condition occurring in future children?,What school accommodations should we request for our child?
Common questions about Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
What is Arthrogryposis-like hand anomaly-sensorineural deafness syndrome?
Arthrogryposis-like hand anomaly and sensorineural deafness syndrome is an extremely rare genetic condition that combines two main features: unusual stiffness and positioning of the hands (similar to what is seen in arthrogryposis, a group of conditions causing joint contractures) along with hearing loss caused by problems with the inner ear or hearing nerve (called sensorineural deafness). The hand abnormalities typically involve the fingers being held in a fixed, bent position with limited ability to straighten or move them normally. The hearing loss can range from moderate to severe and aff
How is Arthrogryposis-like hand anomaly-sensorineural deafness syndrome inherited?
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Arthrogryposis-like hand anomaly-sensorineural deafness syndrome typically begin?
Typical onset of Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is neonatal. Age of onset can vary across affected individuals.