Overview
Hereditary sensory and autonomic neuropathy with deafness and global delay (sometimes called HSAN with sensorineural deafness and global developmental delay) is an extremely rare genetic condition that affects the nervous system in multiple ways. It belongs to a group of disorders known as hereditary sensory and autonomic neuropathies (HSANs), which damage the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like heart rate, blood pressure, sweating, and digestion. In this particular form, children are also affected by hearing loss (sensorineural deafness) and global developmental delay, meaning they experience significant delays in reaching milestones such as sitting, walking, talking, and learning. The combination of nerve damage, hearing impairment, and developmental challenges makes this condition especially complex to manage. Because this disease is so rare, treatment options are currently limited to managing symptoms and providing supportive care. There is no cure at this time. A team of specialists typically works together to address the various aspects of the condition, including neurologists, audiologists, developmental pediatricians, and rehabilitation therapists. Early intervention with therapies such as physical therapy, occupational therapy, and speech therapy can help children reach their fullest potential. Pain management and prevention of injuries related to reduced sensation are also important parts of care.
Also known as:
Key symptoms:
Reduced ability to feel painReduced ability to feel temperature changesNumbness or tingling in hands and feetHearing loss or deafnessDelayed speech and language developmentDelayed motor milestones like sitting and walkingIntellectual disability or learning difficultiesProblems with sweating (too much or too little)Difficulty regulating blood pressureFrequent injuries or wounds that go unnoticed due to lack of painPoor wound healingFeeding difficulties in infancyMuscle weaknessProblems with balance and coordination
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hereditary sensory and autonomic neuropathy with deafness and global delay.
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Specialists
View all specialists →No specialists are currently listed for Hereditary sensory and autonomic neuropathy with deafness and global delay.
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 Hereditary sensory and autonomic neuropathy with deafness and global delay.
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Caregiver Resources
NORD Caregiver Resources
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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 specific genetic testing should my child have to confirm this diagnosis?,How can we best protect my child from injuries they cannot feel?,What hearing support options are available, such as hearing aids or cochlear implants?,What early intervention therapies do you recommend, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,What signs of complications should I watch for at home?,How will this condition affect my child's learning, and what school supports should we request?
Common questions about Hereditary sensory and autonomic neuropathy with deafness and global delay
What is Hereditary sensory and autonomic neuropathy with deafness and global delay?
Hereditary sensory and autonomic neuropathy with deafness and global delay (sometimes called HSAN with sensorineural deafness and global developmental delay) is an extremely rare genetic condition that affects the nervous system in multiple ways. It belongs to a group of disorders known as hereditary sensory and autonomic neuropathies (HSANs), which damage the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like heart rate, blood pressure, sweating, and digestion. In this particular form, children are also affected by he
How is Hereditary sensory and autonomic neuropathy with deafness and global delay inherited?
Hereditary sensory and autonomic neuropathy with deafness and global delay follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary sensory and autonomic neuropathy with deafness and global delay typically begin?
Typical onset of Hereditary sensory and autonomic neuropathy with deafness and global delay is infantile. Age of onset can vary across affected individuals.