Overview
Temtamy preaxial brachydactyly syndrome is an extremely rare genetic condition that primarily affects the development of the hands, feet, and brain. It was first described by Professor Samia Temtamy. The term 'preaxial brachydactyly' refers to shortening of the fingers and toes on the thumb side (the preaxial side) of the hands and feet. People with this condition typically have shortened fingers and toes, particularly affecting the thumbs and big toes, along with other skeletal differences in the hands and feet. Beyond the limb findings, this syndrome can also affect brain development. Many individuals experience intellectual disability, which can range from mild to moderate. Some patients may also have seizures, hearing loss, and distinctive facial features. Eye abnormalities, including problems with the retina or optic nerve, have also been reported in some cases. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms. This may include surgery or occupational therapy for hand and foot differences, special education support for learning difficulties, anti-seizure medications if epilepsy is present, and hearing aids if hearing loss occurs. A team of specialists working together provides the best care for affected individuals. Early intervention services for children can help maximize developmental potential.
Key symptoms:
Shortened fingers, especially the thumbsShortened toes, especially the big toesIntellectual disabilitySeizures or epilepsyHearing lossDistinctive facial featuresEye or vision problemsDelayed developmental milestonesAbnormal bone structure in the hands and feetLow muscle toneSpeech and language delaysGrowth delays
Clinical phenotype terms (48)— 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 Temtamy preaxial brachydactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Temtamy preaxial brachydactyly 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 Temtamy preaxial brachydactyly syndrome.
Community
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Caregiver Resources
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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 specific CHSY1 gene changes were found, and what do they mean for my child?,What developmental milestones should I watch for, and when should I be concerned?,Does my child need seizure medication, and what are the side effects?,What therapies (occupational, speech, physical) would benefit my child most right now?,How often should hearing and vision be tested?,Are there any surgical options to improve hand or foot function?,What is the chance of having another child with this condition, and should other family members be tested?
Common questions about Temtamy preaxial brachydactyly syndrome
What is Temtamy preaxial brachydactyly syndrome?
Temtamy preaxial brachydactyly syndrome is an extremely rare genetic condition that primarily affects the development of the hands, feet, and brain. It was first described by Professor Samia Temtamy. The term 'preaxial brachydactyly' refers to shortening of the fingers and toes on the thumb side (the preaxial side) of the hands and feet. People with this condition typically have shortened fingers and toes, particularly affecting the thumbs and big toes, along with other skeletal differences in the hands and feet. Beyond the limb findings, this syndrome can also affect brain development. Many
How is Temtamy preaxial brachydactyly syndrome inherited?
Temtamy preaxial brachydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Temtamy preaxial brachydactyly syndrome typically begin?
Typical onset of Temtamy preaxial brachydactyly syndrome is neonatal. Age of onset can vary across affected individuals.