pelviscapular dysplasia
Findings
No curated finding names pelviscapular dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009845), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- Abnormality of the joint spaces of the elbowHPOHP:0003943
- Obligate (100% of cases)
- BrachydactylyHPOHP:0001156
- Obligate (100% of cases)
- Congenital hip dislocationHPOHP:0001374
- Obligate (100% of cases)
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Disproportionate short statureHPOHP:0003498
- 2 of 2 reported patients
- Elbow flexion contractureHPOHP:0002987
- Obligate (100% of cases)
- Frontal bossing
Show the remaining 18
- Hypoplastic iliac wingHPOHP:0002866
- 2 of 2 reported patients
- Hypoplastic scapulaeHPOHP:0000882
- 2 of 2 reported patients
- Obligate (100% of cases)
- Low anterior hairlineHPOHP:0000294
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- Obligate (100% of cases)
- Mesomelic leg shorteningHPOHP:0004987
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.
- TBX15HGNC:11594
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: pelviscapular dysplasia
- Also called
- Cousin syndromefamilial pelvis-scapular dysplasia