Patients present with short stature and myopathy.
Clinical features may involve head and neck (webbed short neck with excess nuchal skin,
expressionless face, epicanthic folds, down-slanted fissures, micrognathia,
high-vaulted, narrow palate, low-set, posterior ears), and the musculoskeletal system (restricted joint
mobility, scoliosis, webbing of joints, symphalangy, abnormal rib structure,
abnormal scapula position, terminal hypoplasia of fingers, and camptodactyly).
Absent nipples, abnormal scarring, and abnormal dental position can be
associated. Death is frequent in neonatal period secondary to respiratory distress.