| H01843 | |
| H number | H01843 |
| Name | Cerebrocostomandibular syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | SNRPB [HSA:6628] [KO:K11086] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.H ICD-10: Q87.8 MeSH: C562538 OMIM: 117650 |
| Reference | PMID:5928011 AUTHORS Smith DW, Theiler K, Schachenmann G TITLE Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. JOURNAL J Pediatr 69:799-803 (1966) DOI:10.1016/S0022-3476(66)80127-0 PMID:26971886 AUTHORS Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S TITLE Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. JOURNAL Am J Med Genet A 170A:1115-26 (2016) DOI:10.1002/ajmg.a.37587 PMID:26240113 AUTHORS Ramaswamy P, Negus S, Homfray T, De Rooy L TITLE Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome. JOURNAL Arch Dis Child Fetal Neonatal Ed 101:F85 (2016) DOI:10.1136/archdischild-2014-307855 PMID:25865758 AUTHORS Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT TITLE A review of craniofacial disorders caused by spliceosomal defects. JOURNAL Clin Genet 88:405-15 (2015) DOI:10.1111/cge.12596 PMID:25047197 AUTHORS Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP TITLE Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. JOURNAL Nat Commun 5:4483 (2014) DOI:10.1038/ncomms5483 |