The mesenchyme is a mesodermal embryonic tissue that can develop into a multitude of different tissues depending on the needs of the developing embryo. The mesenchyme can develop into blood, cartilage, and membranes. In a normal patient, TWIST2 is highly expressed during embryonic development, specifically in the craniofacial development and chondrogenisis. TWIST2 works to prevent the premature maturation of chondrogenic cells and osteoblasts, the cells that will form cartilage and bone respectively. The dominant mutation in TWIST2 leads to the chondrogenic and osteoblastic cells becoming mature prematurely. This then leads to the primary craniofacial deformities seen in AMS patients.
Ablepharon macrostomia syndrome
Laryngo-onycho-cutaneous syndrome
Malpuech facial clefting syndrome
Cleft Lip and Palate Association
Long face syndrome
Gastric atresia
Branchio-oculo-facial syndrome
Trismus pseudocamptodactyly syndrome