Living with Mesoaxial synostotic syndactyly with phalangeal reduction
A rare inherited hand and foot condition with fused fingers and toes, short bones, and malformed thumbs.
Understanding Mesoaxial synostotic syndactyly with phalangeal reduction
The 3rd and 4th fingers are fully joined, with fused hand bones. Thumbs are malformed, and the 5th finger is small and curved. Toes may have webbing and short end bones. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joined fingers (syndactyly)
- Fused hand bones
- Short or malformed thumbs
- Short palm
- Curved 5th finger
- Webbed or short toes, including the big toe
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.
- 3Consider genetic testing
Changes in BHLHA9 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
- 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 the BHLHA9 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: mesoaxial synostotic syndactyly with phalangeal reduction syndrome; mssd; syndactyly malik percin type; syndactyly type 9; syndactyly, malik-percin type
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 Mesoaxial synostotic syndactyly with phalangeal reduction.
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