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Start free with EleplanSplit-foot malformation-mesoaxial polydactyly syndrome
ORPHA:488232Malformation syndrome
Also called SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
What it is
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
11- 1-2 toe complete cutaneous syndactyly
- 1-2 toe syndactyly
- 4-5 toe syndactyly
- Abnormal nail morphology
- Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
- Aplasia/Hypoplasia of the distal phalanx of the hallux
- Aplasia/Hypoplasia of the phalanges of the 3rd toe
- Aplasia/Hypoplasia of the phalanges of the 4th toe
- Aplasia/Hypoplasia of the phalanges of the 5th toe
- Mesoaxial foot polydactyly
- Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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