3MC syndrome 2; 3MC2

What is 3MC syndrome 2; 3MC2?

3MC syndrome 2; 3MC2 is a rare disease. It is also known as 3MC 3MC syndrome Carnevale Syndrome, Formerly Oculo-skeletal-abdominal Syndrome Osa Syndrome Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia.

Michels et al., (1978) described three brothers and a sister, the offspring of Mexican-American parents, with cleft lip and palate, anterior chamber anomalies with corneal clouding, ptosis, blepharophimosis and epicanthus inversus. There was also spina bifida occulta, radioulnar synostosis and cranial asymmetry. Two of the sibs had lambdoidal craniosynostosis. Many patients have paraumbilical depressions (Leal and Baptista, 2007 - who review the clinical features).
Cunniff and Jones (1990) and Guion-Almeida and Rodini (1995) reported cases with features of the condition, but without anterior chamber abnormalities. De La Paz et al., (1991) reported three brothers and a sister with apparently the same condition. Two had cleft lip and palate and one a small omphalocele. Additional features were conjunctival telangiectasia, short stature and clinodactyly. There are some similarity to Peters' plus syndrome (qv).
Titomanilo et al., (2005) reported a case and noted the striking overlap with Carnevale (1989) syndrome - see elsewhere, the ocular-skeletal-abdominal syndrome (OSA) - described by Mingarelli et al., (1996) - but referenced under Carnevale syndrome, and Malpuech syndrome -see elsewhere. They suggest that they be joined under the eponym, 3MC (Malpuech, Michels, Mingarelli and Carnevale). BUT, see under Carnevale syndrome. Leal and Baptista (2007) agree. These authors reported 2 further sibs and a singleton. Without mutational confirmation the diagnosis is difficult. Adio et al., (2014) reported a case born to cousin parents with blepharophimosis, blepharoptosis, epicanthus inversus and cleft lip and palate. Her orbits were shallow, her hands were short and stubby and her feet were broad.
The 2 sibs reported by Leal et al., (2008) and the discussion that followed again raised questions about whether the reports by Michels, Malpuech and Carnevale and Al Kaissi ie., 3MC syndrome and OSA (Mingarelli et al., (1996), are not all the same condion. Two Turkish patients with similarities to these conditions was found by Sirmaci et al., (2010) to have MASP1 mutations. MASP1 encodes mannan-binding lectin serine protease 1.
Two genes in the lectin complement pathway (COLEC11 and MASP1) have been shown to be causitive (Rooryk et al., 2011). Eleven families were utilized.
Munye et al. (2017) described four patients from a 3MC cohort with Carnevale syndrome. Three of them carried novel homozygous mutations in the COLEC11 gene and the fourth patient carried a novel homozygous truncating mutation in the MASP1/3 gene. All patients presented with dysmorphic features including arched eyebrows, blepharoptosis, epicanthus inversus, hypertelorism, dysplastic ears and bilateral cleft lip and palate. Additional features varied between patients and included developmental delay, feeding difficulties, corneal clouding, deep set nails, diastasis recti or umbilical hernia (in three patients), radio-ulnar synostosis, sacral dimple, hypotonia, patent ductus arteriosus, horseshoe kidney and micropenis and undescended testes. The authors also described two patients with Michels syndrome and one patient with Malpuech syndrome mutations in the COLEC10 gene. Clinical features included characteristic dysmorphic features (blepharoptosis and epicanthus inversus in all patients, cleft lip and palate in two patients and dysplastic ears and ear pit in one patient), short stature in two patients and preaxial polydactyly, clinodactyly, and sacral dimple - each in one patient.

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* This information is courtesy of the L M D.

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What gene changes cause 3MC syndrome 2; 3MC2?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 265050 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
COLEC11 - 2p25.3
MASP1 - 3q27.3

What are the main symptoms of 3MC syndrome 2; 3MC2?

The typical symptoms of the syndrome are:
Highly arched eyebrow, Broad forehead, Prominent nasal bridge, Hypoplasia of the musculature, Depressed nasal tip, Hearing impairment, Postnatal growth retardation, Global developmental delay, Hypertelorism, Hip dislocation, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Cleft upper lip, Epicanthus inversus, Cryptorchidism, Craniosynostosis, Radioulnar synostosis, Ptosis, Prominence of the premaxilla, Strabismus, Broad philtrum, Blepharophimosis, Cleft palate, Wide nasal bridge, Abnormal vertebral morphology, Intellectual disability, Joint hypermobility, Limited elbow movement, Autosomal recessive inheritance, Torticollis, Partial abdominal muscle agenesis

How does someone get tested for 3MC syndrome 2; 3MC2?

The initial testing for 3MC syndrome 2; 3MC2 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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