split-foot malformation-mesoaxial polydactyly syndrome
MONDO:0014816Mondo
Findings
No curated finding names split-foot malformation-mesoaxial polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Split handHPOHP:0001171
- 5 of 5 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 5 reported patients
- Split footHPOHP:0001839
- 4 of 5 reported patients
- Very frequent (80% to 99% of cases)
- 1-2 toe complete cutaneous syndactylyHPOHP:0005767
- Frequent (30% to 79% of cases)
- 1-2 toe syndactylyHPOHP:0010711
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
- 4-5 toe syndactylyHPOHP:0004692
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the distal phalanx of the 2nd toeHPOHP:0010413
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the distal phalanx of the halluxHPOHP:0010076
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the phalanges of the 3rd toeHPOHP:0010359
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the phalanges of the 4th toeHPOHP:0010371
- Frequent (30% to 79% of cases)
Show the remaining 4
- Aplasia/Hypoplasia of the phalanges of the 5th toeHPOHP:0010383
- Frequent (30% to 79% of cases)
- Mesoaxial foot polydactylyHPOHP:0010112
- Frequent (30% to 79% of cases)
- Second ray metatarsophalangeal synostosisHPOHP:0100483
- Frequent (30% to 79% of cases)
- Mesoaxial hand polydactylyHPOHP:0006159
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAP3K20HGNC:17797
- Moderate · G2P · Autosomal recessive · 2026
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: split-foot malformation-mesoaxial polydactyly syndrome
- Also called
- SFMMPsplit-foot malformation with mesoaxial polydactylysplit-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome