spondyloepimetaphyseal dysplasia with multiple dislocations
Findings
No curated finding names spondyloepimetaphyseal dysplasia with multiple dislocations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
Definition from the Mondo Disease Ontology (MONDO:0011335), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
43 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.
- Midface retrusionHPOHP:0011800
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Radial head subluxationHPOHP:0003048
- 6 of 8 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 31
- Delayed epiphyseal ossificationHPOHP:0002663
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Fragmented epiphysesHPOHP:0100168
- Frequent (30% to 79% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- 4 of 8 reported patients
- Frequent (30% to 79% of cases)
- Genu varumHPOHP:0002970
- 2 of 8 reported patients
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.
- KIF22HGNC:6391
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: spondyloepimetaphyseal dysplasia with multiple dislocations
- Also called
- SEMD-MDSEMDJL2spondyloepimetaphyseal dysplasia with joint laxicity, Hall typespondyloepimetaphyseal dysplasia with joint laxity type 2spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typespondyloepimetaphyseal dysplasia with multiple dislocations, Hall type