| H00986 | |
| H number | H00986 |
| Name | Multiple pterygium syndrome |
| Description | The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | (LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] (LMPS) CHRNA1 [HSA:1134] [KO:K04803] (LMPS) CHRND [HSA:1144] [KO:K04816] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.40 ICD-10: Q87.0 MeSH: C537377 OMIM: 265000 253290 |
| Reference | PMID:3289375 AUTHORS Ramer JC, Ladda RL, Demuth WW TITLE Multiple pterygium syndrome. An overview. JOURNAL Am J Dis Child 142:794-8 (1988) DOI:10.1001/archpedi.1988.02150070108039 PMID:3430553 AUTHORS Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J TITLE Multiple pterygium syndrome: evolution of the phenotype. JOURNAL J Med Genet 24:733-49 (1987) DOI:10.1136/jmg.24.12.733 PMID:22167768 AUTHORS Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER TITLE CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. JOURNAL J Med Genet 49:21-6 (2012) DOI:10.1136/jmedgenet-2011-100378 PMID:18252226 AUTHORS Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K TITLE Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. JOURNAL Am J Hum Genet 82:464-76 (2008) DOI:10.1016/j.ajhg.2007.11.006 PMID:19076525 AUTHORS Mayhew JF, Mychaskiw G TITLE Escobar syndrome: is this child prone to malignant hyperthermia? JOURNAL Paediatr Anaesth 19:69-70 (2009) DOI:10.1111/j.1460-9592.2008.02856.x |