| H01834 | |
| H number | H01834 |
| Name | Marshall-Smith syndrome |
| Description | Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS. |
| Category | Congenital malformation |
| Network | - |
| Gene | NFIX [HSA:4784] [KO:K09171] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2C ICD-10: Q87.3 MeSH: C536026 OMIM: 602535 |
| Reference | PMID:4321601 AUTHORS Marshall RE, Graham CB, Scott CR, Smith DW TITLE Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. JOURNAL J Pediatr 78:95-101 (1971) DOI:10.1016/S0022-3476(71)80269-X PMID:16086394 AUTHORS Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH TITLE Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. JOURNAL Am J Med Genet A 137:117-24 (2005) DOI:10.1002/ajmg.a.30580 PMID:20673863 AUTHORS Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V TITLE Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. JOURNAL Am J Hum Genet 87:189-98 (2010) DOI:10.1016/j.ajhg.2010.07.001 PMID:20949508 AUTHORS Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Puseljic S, Zenker M, Cormier-Daire V, Hennekam RC TITLE Phenotype and natural history in Marshall-Smith syndrome. JOURNAL Am J Med Genet A 152A:2714-26 (2010) DOI:10.1002/ajmg.a.33709 |