Overview
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is an extremely rare multi-system genetic disorder that affects several parts of the body at the same time. As the name describes, people with this condition experience a combination of eye problems (cataracts, which are clouding of the lens in the eye), short stature due to a lack of growth hormone, nerve damage that affects sensation in the hands and feet (sensory neuropathy), hearing loss caused by inner ear or nerve problems (sensorineural hearing loss), and abnormal bone development (skeletal dysplasia). Because so many body systems are involved, the condition can significantly impact a person's daily life from an early age. Children may be noticeably shorter than their peers, have difficulty seeing or hearing, and may experience numbness or tingling in their limbs. The treatment approach is mainly supportive and focuses on managing each symptom individually. Growth hormone replacement therapy may help with short stature, surgery can address cataracts, hearing aids or cochlear implants may improve hearing, and physical therapy or pain management can help with neuropathy symptoms. Because this syndrome is so rare, there is limited published research, and management is typically coordinated by a team of specialists.
Also known as:
Key symptoms:
Clouding of the eye lens (cataracts)Short stature or slow growthHearing lossNumbness or tingling in hands and feetReduced ability to feel pain or temperatureAbnormal bone developmentJoint problems or stiffnessDelayed pubertyVision problemsDifficulty with balanceMuscle weakness in the limbsBone deformities
Clinical phenotype terms (24)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia 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 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests do we need to confirm this diagnosis?,Should we pursue genetic testing, and what type is recommended?,Is growth hormone therapy appropriate, and when should it be started?,How often should my child's vision and hearing be checked?,What can we do to protect against injuries caused by sensory neuropathy?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see them?
Common questions about Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
What is Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome?
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is an extremely rare multi-system genetic disorder that affects several parts of the body at the same time. As the name describes, people with this condition experience a combination of eye problems (cataracts, which are clouding of the lens in the eye), short stature due to a lack of growth hormone, nerve damage that affects sensation in the hands and feet (sensory neuropathy), hearing loss caused by inner ear or nerve problems (sensorineural hearing loss), and abnormal bone developmen
How is Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome inherited?
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome typically begin?
Typical onset of Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is childhood. Age of onset can vary across affected individuals.