split hand-foot malformation 3
Findings
No curated finding names split hand-foot malformation 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0009525), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- Very frequent (80% to 99% of cases)
- OligodactylyHPOHP:0012165
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Abnormality of the wristHPOHP:0003019
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Show the remaining 18
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Renal hypoplasiaHPOHP:0000089
- Frequent (30% to 79% of cases)
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.
- FBXW4HGNC:10847
- Limited · G2P · Autosomal dominant · 2023
Where it sits
Other names
7 names
Resolves to: split hand-foot malformation 3
- Also called
- 10q24 microduplication syndromeButtiens-Fryns syndromechromosome 10q24 duplication syndromeSHFM3split hand-foot malformation type 3split-hand/foot malformation 3, gene duplication syndromesplit-hand/foot malformation type 3