3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including developmental delay, growth and mental retardation, and characteristic facial dysmorphism, such as hypertelorism, telecanthus, blepharophimosis, blepharoptosis, and epicanthus inversus. 3MC syndrome was originally described as four separate disorders: Malpuech syndrome, Carnevale syndrome, Michels syndrome, and Mingarelli syndrome. There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion that they should all be considered part of the same phenotypic spectrum known as 3MC syndrome. Mutations in lectin complement pathway genes have been reported to cause 3MC syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01887 3MC syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06513 Complement cascade
H01887 3MC syndrome
