Malpuech syndrome

Malpuech syndrome, also known as Malpuech facial clefting syndrome, is an extremely rare autosomal recessive disorder characterized by a distinctive combination of facial anomalies, growth deficiency, and other congenital malformations. It belongs to a group of overlapping conditions sometimes referred to as the 3MC syndrome spectrum (Malpuech-Michels-Mingarelli-Carnevale syndrome), which are caused by mutations in genes involved in the complement pathway, specifically MASP1 and COLEC11. The key clinical features of Malpuech syndrome include facial clefting (particularly cleft lip and/or cleft palate), hypertelorism (widely spaced eyes), ptosis (drooping eyelids), blepharophimosis (narrowing of the eye opening), and a characteristic facial appearance. Growth retardation is commonly observed, and affected individuals may also present with urogenital anomalies (such as hypospadias and cryptorchidism in males), skeletal abnormalities, hearing impairment, and intellectual disability of variable severity. Cardiac defects have also been reported in some cases. There is currently no specific cure or targeted therapy for Malpuech syndrome. Management is supportive and multidisciplinary, focusing on surgical correction of cleft lip and palate, monitoring and addressing cardiac and urogenital anomalies, hearing assessment and intervention, developmental support, and growth monitoring. Genetic counseling is recommended for affected families. Given the recognition that Malpuech syndrome overlaps significantly with Michels, Mingarelli, and Carnevale syndromes under the 3MC syndrome umbrella, genetic testing for MASP1 and COLEC11 mutations can confirm the diagnosis.

Common questions about Malpuech syndrome