Rhizomelic dysplasia, Patterson-Lowry type
ORPHA:2831· ICD-10 Q78.8
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 brachymetacarpia.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy