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Fibrochondrogenesis is a rare[1] autosomal recessive[2] form of osteochondrodysplasia,[3] causing abnormal fibrous development of cartilage and related tissues.[4]
It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism,[1] exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of fibroblasts, specialized cells that make up fibrous connective tissue, which plays a role in the formation of cellular structure and promotes healing of damaged tissues).[4][5][6] Death caused by complications of fibrochondrogenesis occurs in infancy.[6]
Fibrochondrogenesis is a congenital disorder presenting several features and radiological findings, some which distinguish it from other osteochondrodysplasias.[7] These include: fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage);[4][5] and flared, widened long bone metaphyses (the portion of bone that grows during childhood).[6][8]
Other prominent features include dwarfism,[1] shortened ribs that have a concave appearance,[6] micrognathism (severely underdeveloped jaw),[7] macrocephaly (enlarged head),[8] thoracic hypoplasia (underdeveloped chest),[8] enlarged stomach,[8] platyspondyly (flattened spine),[6] and the somewhat uncommon deformity of bifid tongue (in which the tongue appears split, resembling that of a reptile).[7]
The cause of platyspondyly in fibrochondrogenesis can be attributed in part to odd malformations and structural flaws found in the vertebral bodies of the spinal column in affected infants.[4][6]
Fibrochondrogenesis alters the normal function of chondrocytes, fibroblasts, metaphyseal cells and others associated with cartilage, bone and connective tissues.[2][3][4] Overwhelming disorganization of cellular processes involved in the formation of cartilage and bone (ossification), in combination with fibroblastic degeneration of these cells, developmental errors and systemic skeletal malformations describes the severity of this lethal osteochondrodysplasia.[3][4][6][8]
Fibrochondrogenesis is inherited in an autosomal recessive pattern.[4] This means that the defective gene responsible for the disorder is located on an autosome, and two copies of the gene — one copy inherited from each parent — are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Currently, no specific genetic mutation has been established as the cause of fibrochondrogenesis.[9]
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