pseudodiastrophic dysplasia
Findings
No curated finding names pseudodiastrophic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
Definition from the Mondo Disease Ontology (MONDO:0009914), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Phalangeal dislocationHPOHP:0006243
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Talipes equinovarus