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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Campomelic Dysplasia | Legal notice |
Other terms
Campomelic Dysplasias,Dysplasia, Campomelic,Dysplasias, Campomelic,Acampomelic Campomelic Dysplasia,Acampomelic Campomelic Dysplasias,Campomelic Dysplasia, Acampomelic,Campomelic Dysplasias, Acampomelic,Dysplasia, Acampomelic Campomelic,Dysplasias, Acampomelic Campomelic
Description
Campomelic Dysplasia: A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 gene (SRY-related HMG-box gene 9).
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