Leri's Pleneosteosis (LP) is a hereditary rheumatic disorder that affects the transforming growth factor (TGF)-beta pathway (TGF-beta is also referred to as SMAD)..
Chromosome location: microduplication at 8q22.1
Genes affected: GDF6 (growth/differentiation factor 6) and SDC2 (syndecan-2)
Inheritance: autosomal dominant
Clinical features:
(1) flexion contractures of the interphalangeal joints
(2) limited motion of multiple joints
(3) short broad metacarpals, metatarsals and phalanges
(4) chronic joint pain
(5) facial dysmorphism
(6) bony overgrowths
(7) short stature
(8) spinal cord compression
(9) carpal tunnel syndrome
(10) scleroderma-like thickening of the skin
(11) Morton's metatarsalgia
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