Multiple Pterygia Syndrome

Description: The images show a boy with webbing or pterygia in the cubital, popliteal and neck areas. This is multiple pterygia syndrome, also know as Escobar's Syndrome. It is a rare congenital disorder with sporadic or autosomal recessive inhertance. An autosomal dominant form has also been reported.
Features include multiple joint contractures due to soft tissue pterygia, short stature, normal intelligence, vertebral anomalies and scoliosis, cryptorchidism and delayed puberty, ptosis, an antimongaloid slant to the palpebral fissures, hypertelorism, micrognathia, oto-pharyngeal anomalies, camptodactyly and syndactyly. There is an association with multicore myopathy and cardiomyopathy.