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Lamb-Shaffer Syndrome: Causes, Signs, and Treatment
Lamb-shaffer syndrome is a rare genetic neurodevelopmental disorder caused by mutations in the ASXL3 gene. This gene plays a crucial role in gene regulation during development. Most cases occur due to de novo mutations, meaning they are not inherited from parents.
People with Lamb-shaffer syndrome often experience delays in development, intellectual disability, and other neurological challenges. Early diagnosis and a multidisciplinary treatment approach are essential for improving outcomes.
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Get Second OpinionWhat are the Common Symptoms of Lamb-shaffer Syndrome?
Symptoms can vary in severity, but common features include:
- Developmental delays
- Intellectual disability
- Speech and language impairments
- Low muscle tone (hypotonia)
- Feeding difficulties in infancy
- Behavioral challenges
- Seizures (in some cases)
- Autism spectrum characteristics
What Causes Lamb-shaffer Syndrome?
- ASXL3 gene mutation (primary cause)
- De novo mutations are most common
- Rarely inherited (very limited familial cases reported)
How is Lamb-shaffer Syndrome Diagnosed?
Lamb-shaffer syndrome is diagnosed through:
- Clinical evaluation of developmental and physical signs
- Genetic testing to detect mutations in the ASXL3 gene
- Developmental assessments for speech, cognition, and motor skills
- Neuroimaging may be used if other conditions are suspected
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How is Lamb-shaffer Syndrome Treated?
There is no cure, but early and ongoing support improves quality of life. Treatment includes:
- Early Intervention Services : Helps improve developmental milestones through personalized support.
- Speech Therapy : Improves communication and language skills.
- Occupational Therapy : Supports fine motor development and daily living activities.
- Behavioral Therapy : Helps manage behavioral issues and develop coping skills.
- Medication : May be prescribed for associated conditions like seizures, anxiety, or ADHD. Always under medical supervision.
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040-68334455Frequently Asked Questions
When do signs of Lamb-shaffer syndrome usually appear?
Most signs show up in infancy or early childhood. Parents may notice delays in talking, walking, or learning.
Can a child inherit Lamb-shaffer syndrome from parents?
In most cases, no. It usually happens by chance due to a new gene change, not because it was passed down from parents.
What are the common signs of Lamb-shaffer syndrome?
Children may have developmental delays, learning problems, speech delays, low muscle tone, and unique facial features.
How do doctors find out if someone has Lamb-shaffer syndrome?
Doctors use genetic testing (a special blood test) to look for changes in the ASXL3 gene. They also check the child’s growth and development.
What treatments can help with Lamb-shaffer syndrome?
There’s no cure, but speech, occupational, and behavior therapies can help the child improve skills and live a better life. Some may need medicine for certain symptoms.
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