Clinical Characteristics

Multiple joint contractures (arthrogryposis) and multiple pterygium are detected in the large majority of cases. Pterygium is frequently observed in neck, axillae, elbows, and knees. Reduced fetal was reported in roughly 50% of patients, neonatal sucking difficulties in 30%, amniotic fluid anomalies in 20%, and pulmonary hypoplasia in 10%.
Facial dysmorphism (characterized by micrognathia, small mouth, high arched palate, short and webbed neck, mild ptosis, downslanting palpebral fissures, and/or low set ears), short stature, mild–moderate scoliosis, and cryptorchidism.
Facial dysmorphism, short stature, scoliosis, and normal intelligence are also frequently observed
Other clinical features as hydrops or cardiac anomalies are very rarely observed.