Multiple pterygium syndrome

Definition:

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.

References:

[1]. Anne Michalk, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008 Feb;82(2):464-76. [Content Brief]

[2]. E M Thompson, et al. Multiple pterygium syndrome: evolution of the phenotype. J Med Genet. 1987 Dec;24(12):733-49. [Content Brief]

[3]. J C Ramer, et al. Multiple pterygium syndrome. An overview. Am J Dis Child. 1988 Jul;142(7):794-8. [Content Brief]

[4]. James F Mayhew, et al. Escobar syndrome: is this child prone to malignant hyperthermia?. Paediatr Anaesth. 2009 Jan;19(1):69-70. [Content Brief]

[5]. Julie Vogt, et al. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 2012 Jan;49(1):21-6. [Content Brief]

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