Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

Acronym

3MC2

Synonyms

Carnevale Krajewska Fischetto syndrome
Carnevale syndrome
Oculo-skeletal-abdominal syndrome
OSA syndrome
Ptosis of eyelids with diastasis recti and hip dysplasia