Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Synonyms: SMO deficiency | Sterol-C4-methyl oxidase deficiency
A rare sterol biosynthesis disorder characterized by microcephaly bilateral congenital cataract mild developmental delay growth delay with short stature psoriasiform dermatitis of variable severity and immune dysregulation. Behavioral disorder joint contractures and arthralgia have also been described.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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