Multiple pterygium syndrome, Escobar variant, OMIM#265000 ICD 10: Q79.8
Synonyms: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non- lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale
Multiple pterygium syndrome, Escobar variant (MPSEV) is a rare congenital condition, which is inherited with an autosomal recessive pattern. It has an unknown incidence but is more common among children from consanguineous relationships. It is caused by a mutation in the CHRNG gene, on chromosome 2q. This gene encodes the gamma subunit of the acetylcholine receptor (AChR), which is found in the fetus until around 33 weeks gestation, when it is replaced by another subunit to form the adult AChR protein. The severity of the CHRNG gene mutation influences the severity of the condition and the complete absence of the gamma subunit will result in lethal multiple pterygium syndrome.