spondylometaphyseal dysplasia, Kozlowski type
Findings
No curated finding names spondylometaphyseal dysplasia, Kozlowski type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Definition from the Mondo Disease Ontology (MONDO:0008477), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
54 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.
- Delayed ossification of carpal bonesHPOHP:0001216
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Flared iliac wingHPOHP:0002869
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Irregular capital femoral epiphysisHPOHP:0005041
- 5 of 6 reported patients
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- Very frequent (80% to 99% of cases)
Show the remaining 42
- Abnormal enchondral ossificationHPOHP:0003336
- Frequent (30% to 79% of cases)
- Abnormal ilium morphologyHPOHP:0002867
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Carpal bone hypoplasiaHPOHP:0001498
- Frequent (30% to 79% of cases)
- Coxa varaHPOHP:0002812
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- 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.
- TRPV4HGNC:18083
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021