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A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Mesenchymal stem cell-derived exosomes engineered to carry functional BMPR1B mRNA and regulatory microRNAs target growth plate chondrocytes, restoring BMP signaling cascade and normalizing SMAD1/5/9 phosphorylation patterns
Curcumin enhances BMPR1B receptor sensitivity through NF-ฮบB pathway inhibition while metformin activates AMPK signaling to promote chondrocyte differentiation and reduce cartilage matrix degradation via mTOR pathway modulation
Combination of dasatinib and quercetin selectively eliminates p16INK4a-positive senescent chondrocytes in growth plates while promoting proliferation of healthy progenitor cells and restoring growth plate architecture through reduced SASP factor secretion
Epimedium and Eucommia bark compounds activate Wnt/ฮฒ-catenin and IGF-1 signaling pathways while promoting SOX9 expression and type II collagen synthesis in growth plate chondrocytes through TCM kidney-yang meridian system
Ruxolitinib inhibits aberrant JAK2-STAT3 inflammatory signaling in growth plates while preserving physiological BMP-SMAD pathways, reducing inflammatory cytokine production that interferes with normal chondrocyte proliferation and differentiation
Ashwagandha (Withania somnifera) withanolides and Guduchi (Tinospora cordifolia) polysaccharides enhance autophagy clearance of misfolded BMPR1B proteins while stimulating growth hormone-IGF-1 axis and promoting healthy chondrocyte metabolism