Diagnosis is based on the clinical findings.
Facial features include depressed nasal bridge, hypertelorism,
blepharophimosis, blepharoptosis, and paresis of ocular muscles with
strabismus. The ears are low set with a folded helix, and the external
auditory canal may be atretic or absent. Vision and hearing may be impaired.
The palate may be arched and narrow. Hip dysplasia leads to dislocation.
Aplasia or hypoplasia of the abdominal muscles results in diastasis.
Pronation and supination are limited, but flexion and extension in the elbow
are normal. Short stature, mild mental retardation, and cryptorchidism present in both patients.