multiple epiphyseal dysplasia, Lowry type
Findings
No curated finding names multiple epiphyseal dysplasia, Lowry type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Definition from the Mondo Disease Ontology (MONDO:0011109), read 2026-09-29. CC BY 4.0.
Features
20 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 sternum morphologyHPOHP:0000766
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Cleft hard palateHPOHP:0410005
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- Very frequent (80% to 99% of cases)
- Dislocated radial headHPOHP:0003083
- Very frequent (80% to 99% of cases)
Show the remaining 8
- MicrognathiaHPOHP:0000347
- 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)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Small epiphysesHPOHP:0010585
- Very frequent (80% to 99% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: multiple epiphyseal dysplasia, Lowry type
- Also called
- multiple epiphyseal dysplasia with Robin phenotype