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| GENATLAS PHENOTYPE |
| 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 |