Multiple pterygium syndrome (MPS) is characterized by webbing of the neck, joints, and digits along with short stature and facial anomalies. It can be caused by mutations in the CHRNG gene encoding the gamma subunit of the acetylcholine receptor. A related but distinct condition is popliteal pterygium syndrome, which is dominant and limited to knee contractures. MPS is heterogeneous and can be autosomal recessive, dominant, or sporadic. Escobar syndrome is a nonlethal form of MPS caused by CHRNG mutations, presenting with joint contractures, respiratory distress, and facial dysmorphism.

1. Multiple pterygium Dr.V.Ravimohan http://www.mrcogexam.net

20. MPS vs PPS Victor Escobar et al.Mutiple Pterygium sundrome:Am J Dis Child –Vol 132,June 1978 MPS PPS No Cleft lip/palate No Lip pits No sygnathia No Ankyloblepharon Absence of pterygia in neck/axillary region/antecubital fossa Autosomal recessive Autosomal dominant Cleft palate is present in 41% of cases Cleft lip(with or without cleft palate) present in nearly all cases

22. ESCOBAR vs Frias ESCOBAR Frias Arthrogryposis with pterygia Arthrogryposis with pterygia ptosis ptosis Antimongoloid slant of palperal fissures Antimongoloid slant of palperal fissures Scoliosis Scoliosis Always short stature Malsegmentation of spine