Crisponi syndrome

924412931ENSG00000006016ENSMUSG00000007888O75462Q9JM58NM_004750NM_018827NP_004741NP_061297Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene. Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene. This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene are associated with two conditions, both rare: It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism. This article incorporates text from the United States National Library of Medicine, which is in the public domain.