Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia in which cartilage and related tissues develop abnormally and become fibrous. It is a lethal rhizomelic form of dwarfism, meaning the limbs are short and underdeveloped, and it shows both skeletal dysplasia, a malformation of bone, and fibroblastic dysplasia, abnormal development of the fibroblasts that make up fibrous connective tissue and help to heal damaged tissue. Death from complications occurs in infancy.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Fibrochondrogenesis (Wikipedia)
Lead, first paragraph
rare autosomal recessive form of osteochondrodysplasia
Lead, second paragraph
skeletal dysplasia (malformations of bone)
lead sentence 1
Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.
Lead: disease category
Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.
View the Source2. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2021Quote, ORPHA:2021
Point prevalence Class only <1 / 1 000 000
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