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Carey-Fineman-Ziter syndrome 2

Summary

Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Other features may include failure to thrive, axial hypotonia, and progressive scoliosis (Ramirez-Martinez et al., 2022). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CFZS2, MINION, hMINION, MYMX
    Summary: myomixer, myoblast fusion factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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