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3MC syndrome 2

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

Summary

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3MC2, CL-11, CL-K1-I, CL-K1-II, CL-K1-IIa, CL-K1-IIb, CLK1, COLEC11
    Summary: collectin subfamily member 11

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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