A male with the fragile X syndrome may show a number of clinical findings.
Facial features:
(1) prominent forehead
(2) long face
(3) prominent jaw
(4) large ears
(5) strabismus
(6) increased occipitofrontal head cirucmference
Behavioral features:
(1) shyness
(2) gaze aversion
(3) autism
(4) developmental delay
(5) mental retardation
(6) hyperactivity
(7) tantrums
(8) hand flapping or biting
Other findings:
(1) post-pubertal macro-orchidism
(2) joint hyperextensibility
(3) pes planus
(4) mitral valve prolapse
(5) dilation of the aortic root
(6) hypotonia
(7) history of gastroesophageal reflux disease
(8) recurrent otitis media
