Overview
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movements, and bilateral cataract is a very rare genetic condition that affects brain development and several other parts of the body. It is sometimes referred to by its Orphanet code ORPHA:500545. This condition is caused by changes (mutations) in a specific gene that disrupt how the brain and body develop from early in life. Children with this condition typically show signs soon after birth or in early infancy. The brain does not develop as expected, leading to significant intellectual disability, delayed or absent speech, and limited motor skills. A hallmark feature is repetitive, purposeless hand movements — similar to hand-wringing or hand-washing motions — that the child cannot control. Feeding is often very difficult from birth, sometimes requiring tube feeding. Both eyes are affected by cataracts (clouding of the lens), which can seriously impact vision if not treated early. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes early intervention therapies, surgical treatment of cataracts, nutritional support, and medications to manage seizures if they occur. A team of specialists is usually needed to provide the best care.
Key symptoms:
Severe intellectual disabilityLittle or no speech developmentRepetitive, uncontrolled hand movements (such as hand-wringing or hand-washing motions)Clouding of the lens in both eyes (bilateral cataracts)Difficulty feeding, especially in infancyDelayed or absent ability to walk or sit independentlySeizuresLow muscle tone (floppiness) in infancySlow or absent head growth (microcephaly in some cases)Limited social interaction or awareness
Clinical phenotype terms (23)— hover any for plain English
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 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract.
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Specialists
View all specialists →No specialists are currently listed for Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract.
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 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract.
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.Which specific mutation was found in the TBCK gene, and what does it mean for my child's prognosis?,When should cataract surgery be done, and what vision outcomes can we expect?,What therapies should we start right away, and how often should they happen?,What signs of seizures should I watch for, and what should I do if one happens?,Does my child need a feeding tube now, or are there other feeding strategies we should try first?,Should other family members be tested as carriers, and what are the chances of this happening in a future pregnancy?,Are there any clinical trials or research studies we could participate in?
Common questions about Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
What is Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract?
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movements, and bilateral cataract is a very rare genetic condition that affects brain development and several other parts of the body. It is sometimes referred to by its Orphanet code ORPHA:500545. This condition is caused by changes (mutations) in a specific gene that disrupt how the brain and body develop from early in life. Children with this condition typically show signs soon after birth or in early infancy. The brain does not develop as expected, leading to significant intellectual disability, delayed or abse
How is Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract inherited?
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract typically begin?
Typical onset of Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract is infantile. Age of onset can vary across affected individuals.