Living with Split hand-foot malformation 3
A rare genetic condition present at birth with severely shortened limbs, a small jaw and a small mouth.
Understanding Split hand-foot malformation 3
It combines severe reduction of the hands and feet on all four limbs (oligodactyly) with a small, set-back jaw and a small mouth, with or without a cleft palate. Other features can include nearsightedness, hearing loss, small kidneys and moderate intellectual disability. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fewer fingers and toes (oligodactyly)
- Missing or small thumbs
- Small, set-back jaw
- Small mouth
- Hearing loss
- Small kidneys
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 Chromosome Disorder Outreach
- 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 says changes in genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 10q24 microduplication syndrome; buttiens fryns syndrome; buttiens-fryns syndrome; chromosome 10q24 duplication syndrome; distal limb deficiencies with micrognathia; distal limb deficiencies-micrognathia syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Split hand-foot malformation 3.
Explore research for Split hand-foot malformation 3
Explore actively recruiting Split hand-foot malformation 3 studies with HealthSpark.
Find actively recruiting studies for Split hand-foot malformation 3 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 Split hand-foot malformation 3 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 Split hand-foot malformation 3
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 Split hand-foot malformation 3 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.