Cerebro-costo-mandibular syndrome

Last updated
Cerebro-costo-mandibular syndrome
Specialty Medical genetics
Symptoms Jaw, rib, and palate anomalies
Usual onsetBirth
DurationLifelong
Causes Genetic mutation
Preventionnone
Prognosis Depends on the case
Frequencyvery rare, only 110 cases have been described in medical literature
Deaths-

Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities. [1]

Contents

Signs and symptoms

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:

Causes

This disorder is caused by autosomal dominant mutations in the SNRPB gene, in chromosome 20. [3]

Epidemiology

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]

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References

  1. ↑ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Síndrome cerebrocostomandibular". www.orpha.net (in Spanish). Retrieved 2022-06-12.
  2. ↑ "Cerebro-costo-mandibular syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-12.
  3. ↑ 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.
  4. ↑ "OMIM Entry - # 117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS". omim.org. Retrieved 2022-06-12.
  5. ↑ 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 (241): 421–424. doi:10.1136/adc.45.241.421. PMC   1647602 . PMID   5427859.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ "OMIM Entry - # 117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS". omim.org. Retrieved 2022-06-12.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ 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.
  18. ↑ 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: 4483. Bibcode:2014NatCo...5.4483.. doi:10.1038/ncomms5483. PMC   4109005 . PMID   25047197.
  19. ↑ 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.
  20. ↑ 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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