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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-05-2015
Symbol MPTSE
Location 2q36-q37
Name multiple pterygium syndrome, Escobar variant
Other name(s) multiple pterygium syndrome, nonlethal type
Corresponding gene CHRNG
Main clinical features multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) , non lethal, with reduced fetal movement detected by ultrasound , at birth, variable joint contractures, multiple pterygia, and facial dysmorphism with long face, high-arched palate, small mouth, and retrognathism, frequent respiratory distress
Genetic determination autosomal recessive
Function/system disorder neuromuscular
Type disease
Gene product
Name gamma-subunit of the acetylcholine receptor (AChR)
Remark(s) allelic disorder: multiple pterygium syndrome, lethal type (MPTLT)
Genotype/Phenotype correlations because CHRNG gene expression is restricted to early development, patients have no myasthenic symptoms later in life