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Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities.[1]
Signs and symptoms [ edit ]
The following list comprises the most common symptoms people with this disorder exhibit:[2]
Common (but not the most) symptoms include:
Not common but also not rare symptoms include:
This disorder is caused by autosomal dominant mutations in the SNRPB gene, in chromosome 20 .[3]
Epidemiology [ edit ]
Only 110 cases have been described in medical literature.[4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20]
References [ edit ]
^ Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, et al. (July 2014). "Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome" . Nature Communications . 5 1 ): 4483. Bibcode :2014NatCo...5.4483. . doi :10.1038/ncomms5483 . PMC 4109005 PMID 25047197 .
^ "OMIM Entry - # 117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS" . omim.org . Retrieved 2022-06-12 .
^ McNicholl B, Egan-Mitchell B, Murray JP, Doyle JF, Kennedy JD, Crome L (June 1970). "Cerebro-costo-mandibular syndrome. A new familial developmental disorder" . Archives of Disease in Childhood . 45 doi :10.1136/adc.45.241.421 . PMC 1647602 PMID 5427859 .
^ Silverman FN, Strefling AM, Stevenson DK, Lazarus J (September 1980). "Cerebro-costo-mandibular syndrome". The Journal of Pediatrics . 97 3 ): 406–416. doi :10.1016/s0022-3476(80 )80190-9 . PMID 7411303 .
^ Leroy JG, Devos EA, Vanden Bulcke LJ, Robbe NS (September 1981). "Cerebro-costo-mandibular syndrome with autosomal dominant inheritance". The Journal of Pediatrics . 99 3 ): 441–443. doi :10.1016/s0022-3476(81 )80343-5 . PMID 7264806 .
^ "OMIM Entry - # 117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS" . omim.org . Retrieved 2022-06-12 .
^ Hennekam RC, Beemer FA, Huijbers WA, Hustinx PA, van Sprang FJ (August 1985). "The cerebro-costo-mandibular syndrome: third report of familial occurrence". Clinical Genetics . 28 2 ): 118–121. doi :10.1111/j.1399-0004.1985.tb00370.x . PMID 3899422 . S2CID 46433302 .
^ Trautman MS, Schelley SL, Stevenson DK (December 1985). "Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance" . The Journal of Pediatrics . 107 (6 ): 990–991. doi :10.1016/s0022-3476(85 )80219-5 PMID 4067764 .
^ Drossou-Agakidou V, Andreou A, Soubassi-Griva V, Pandouraki M (October 1991). "Cerebrocostomandibular syndrome in four sibs, two pairs of twins" . Journal of Medical Genetics . 28 10 ): 704–707. doi :10.1136/jmg.28.10.704 . PMC 1017059 PMID 1941967 .
^ Plötz FB, van Essen AJ, Bosschaart AN, Bos AP (March 1996). "Cerebro-costo-mandibular syndrome". American Journal of Medical Genetics . 62 3 ): 286–292. doi :10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G . PMID 8882789 .
^ Merlob P, Schonfeld A, Grunebaum M, Mor N, Reisner SH (January 1987). "Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings". American Journal of Medical Genetics . 26 1 ): 195–202. doi :10.1002/ajmg.1320260129 . PMID 3544846 .
^ Hennekam RC, Goldschmeding R (January 1998). "Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?" . European Journal of Human Genetics . 6 1 ): 71–74. doi :10.1038/sj.ejhg.5200154 PMID 9781016 . S2CID 30627133 .
^ Kirk EP, Arbuckle S, Ramm PL, Adès LC (May 1999). "Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?" . American Journal of Medical Genetics . 84 2 ): 120–124. doi :10.1002/(SICI)1096-8628(19990521)84:2<120::AID-AJMG7>3.0.CO;2-3 . PMID 10323736 .
^ James PA, Aftimos S (January 2003). "Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review". Clinical Dysmorphology . 12 1 ): 63–68. doi :10.1097/00019605-200301000-00012 . PMID 12514369 . S2CID 41024939 .
^ Su PH, Chen JY, Chiang CL, Ng YY, Chen SJ (April 2010). "Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome". Clinical Dysmorphology . 19 2 ): 51–55. doi :10.1097/MCD.0b013e328335c133 . PMID 20177378 . S2CID 21435401 .
^ Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, et al. (July 2014). "Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome" . Nature Communications . 5 Bibcode :2014NatCo...5.4483. . doi :10.1038/ncomms5483 . PMC 4109005 PMID 25047197 .
^ Bacrot S, Doyard M, Huber C, Alibeu O, Feldhahn N, Lehalle D, et al. (February 2015). "Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome" . Human Mutation . 36 2 ): 187–190. doi :10.1002/humu.22729 PMID 25504470 . S2CID 7059448 .
^ Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, et al. (May 2016). "Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings". American Journal of Medical Genetics. Part A . 170A (5 ): 1115–1126. doi :10.1002/ajmg.a.37587 . PMID 26971886 . S2CID 26104190 .
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