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Rhizomelic Chondrodysplasia Punctata Type 5

Rhizomelic Chondrodysplasia Punctata Type 5

OMIM number: 616716

Comments closing date: 08/01/2019

Rhizomelic Chondrodysplasia Punctata (RCP) is a form of dwarfism that impairs the development of many parts of the body. The conditions is characterised by skeletal abnormalities, shortening of the thighs and upper arm and joint deformities. There is significant developmental delay and severe intellectual disability. Children diagnosed with RCP are affected with spina bifida, have limited movement, facial disfigurements, microcephaly, seizures, developmental delay and breathing difficulties. Death occurs during the first decade of life, mainly due to respiratory complications

Review date: 18 December 2020