Rhizomelic dysplasia, Patterson-Lowry type

Orpha code: 2831OMIM code: 601438

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2831
OMIM code
601438
ICD10 code
Q78.8
ICD11 code
LD24.A

No additional description.

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