3MC Syndrome

The term "3MC syndrome" encompasses four rare autosomal recessive inherited disorders formerly known as Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphia such as hypertelorism, blepharophimosis, blepharoptosis, and severely arched eyebrows, which are present in 70% to 95% of cases. Cleft lip and palate, postnatal growth retardation, cognitive impairment, and hearing loss are also common findings, occurring in 40% to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicortical anomalies occur in 20% to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendages, umbilical hernias (omphalocele), and diastasis recti .

1. Al Kaissi, A et al. (2007) Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet 143A: 349-354.
2. Carnevale F et al (1989) Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am. J. Med. Genet. 33: 186-189, 1989.
3. Guion-Almeida ML et al.(1995) Michels syndrome in a Brazilian girl born to consanguineous parents. Am J Med Genet 57: 377-379.
4. Mingarelli R et al (1996) Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). J Med Genet 33: 884-886.
5. Titomanlio L et al (2005) Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet 137A: 332-335.