Article
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Clinical dysmorphology - 1 Jan 2023
Ashton Chloe Jade, Perveen Rahat, Beaman Glenda, Crisponi Giangiorgio, González-Del Angel Ariadna, Garza-Mayén Gilda, Alcántara-Ortigoza Miguel Angel, O'Sullivan James, Clayton-Smith Jill
Abstract excerpt
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit...
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