Living with Split-foot malformation-mesoaxial polydactyly syndrome
A rare genetic condition present at birth with split feet, nail differences and hearing loss.
Understanding Split-foot malformation-mesoaxial polydactyly syndrome
People have a split-foot malformation on one or both sides, nail differences in the hands and hearing loss in both ears (sensorineural). An extra toe in the middle of the foot (mesoaxial polydactyly) has also been described. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split foot
- Webbed toes
- Missing or small toe bones
- Extra toe in the middle of the foot
- Nail differences
- Hearing loss in both ears
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, ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MAP3K20 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); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 lists changes in the MAP3K20 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sfmmp; sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome; split-foot malformation with mesoaxial polydactyly; split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; split-foot malformation, mesoaxial polydactyly syndrome; split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · 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-foot malformation-mesoaxial polydactyly syndrome.
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