Living with Sheldon-Hall syndrome
A genetic condition present at birth that stiffens and bends the joints of the hands and feet and affects facial features.
Understanding Sheldon-Hall syndrome
Fingers and toes are permanently bent, and fingers may overlap or angle toward the pinky. Clubfoot is common. These differences are present at birth and generally don't get worse over time. Facial features can include a triangular face, down-slanting eyes, deep skin folds from nose to lips, and a small mouth with a high palate. Some people have a webbed neck or short stature.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bent, stiff joints in hands and feet
- Overlapping fingers
- Fingers angled toward the pinky
- Clubfoot
- Short stature
- Narrow or triangular face
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
- 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 Arthrogryposis Multiplex Congenita Support Inc.
- 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
GARD doesn't list a gene for this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: arthrogryposis, distal, type 2b; da2b; distal arthrogryposis type 2b; freeman sheldon syndrome, variant; freeman-sheldon syndrome variant
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Sheldon-Hall syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Sheldon-Hall syndrome.
Explore research for Sheldon-Hall syndrome
Explore actively recruiting Sheldon-Hall syndrome studies with HealthSpark.
Find actively recruiting studies for Sheldon-Hall 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 Sheldon-Hall 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 Sheldon-Hall 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 Sheldon-Hall 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.