Cerebrocostomandibular syndrome

Definition:

Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.

References:

[1]. D Lehalle, et al. A review of craniofacial disorders caused by spliceosomal defects. Clin Genet. 2015 Nov;88(5):405-15. [Content Brief]

[2]. D W Smith, et al. Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. J Pediatr. 1966 Nov;69(5):799-803. [Content Brief]

[3]. Danielle C Lynch, et al. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nat Commun. 2014 Jul 22;5:4483. [Content Brief]

[4]. Madeleine Tooley, et al. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. Am J Med Genet A. 2016 May;170A(5):1115-26. [Content Brief]

[5]. Priya Ramaswamy, et al. Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome. Arch Dis Child Fetal Neonatal Ed. 2016 Jan;101(1):F85. [Content Brief]

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