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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Microcephaly-congenital cataract-psoriasiform dermatitis syndrome?
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Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
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Syndromes Without A Name (SWAN) Australia
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