rhizomelic dysplasia, Patterson-Lowry type
Findings
No curated finding names rhizomelic dysplasia, Patterson-Lowry type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
Definition from the Mondo Disease Ontology (MONDO:0011079), read 2026-09-29. CC BY 4.0.
Features
17 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 vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Coxa varaHPOHP:0002812
- Very frequent (80% to 99% of cases)
- Deformed humeral headsHPOHP:0005687
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Deviation of fingerHPOHP:0004097
- Very frequent (80% to 99% of cases)
Show the remaining 5
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- Short humerusHPOHP:0005792
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of