Living with Lamb-Shaffer syndrome
A genetic condition with developmental and speech delay, intellectual disability, and distinctive facial features.
Understanding Lamb-Shaffer syndrome
Facial features can include a prominent forehead, skin folds at the inner eye corners, strabismus, a depressed nasal bridge, and a small jaw. Behavior concerns such as stereotypies, aggression, anxiety, and autism spectrum disorder have been reported. Some people have bone differences such as scoliosis or seizures. It is noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Delayed speech
- Intellectual disability
- Low muscle tone
- Delayed walking
- Eyes that do not line up (strabismus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SOX5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SOX5 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: lamb shaffer syndrome; lamb-shaffer syndrome; lamshf; lamshf; sox5 haploinsufficiency syndrome
Patient organizations
- Simons SearchlightLamb-Shaffer syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lamb-Shaffer syndrome.
Explore research for Lamb-Shaffer syndrome
Explore actively recruiting Lamb-Shaffer syndrome studies with HealthSpark.
Find actively recruiting studies for Lamb-Shaffer syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Lamb-Shaffer syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Lamb-Shaffer syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Lamb-Shaffer syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.