Mutations in the Filamin B (FLNB) gene cause<unk> . FLNB is a cytoplasmic protein that regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development. Disruptions in this pathway, caused by FLNB mutations, result in the bone and cartilage abnormalities associated with<unk> . Chondrocytes, which also have a role in bone development, are susceptible to these disruptions and either fail to undergo ossification, or ossify incorrectly. FLNB mutations are involved in a spectrum of lethal bone<unk> s. One such disorder, atelosteogenesis type I, is very similar to<unk> , and several symptoms of both often overlap.
Boomerang dysplasia
Acromicric dysplasia
Sponastrime dysplasia
Phakomatosis
Infantile hemangioma
Metachondromatosis
Tornwaldt cyst
Vernix caseosa