Living with Sugarman brachydactyly
A rare condition that affects the fingers and toes, with short fingers and stiff joints.
Understanding Sugarman brachydactyly
People have short fingers and joints in the fingers that don't move. Toes may be placed differently than usual and may not move in a typical way. X-rays may show two bones in the thumb and a shorter pinky finger. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short fingers
- Stiff finger joints
- Toes placed differently than usual
- Toes that don't move typically
- Two bones in the thumb
- Shorter pinky finger
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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 genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: brachydactyly with major proximal phalangeal shortening; sugarman hager kulik syndrome; sugarman-hager-kulik syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sugarman brachydactyly.
Explore research for Sugarman brachydactyly
Explore actively recruiting Sugarman brachydactyly studies with HealthSpark.
Find actively recruiting studies for Sugarman brachydactyly 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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