Autistic behavior, Avascular necrosis, Bone pain, Bulbous nose, Cervical myelopathy, Chondrosarcoma, Clinodactyly of the 5th finger, Coarse facial features, Constipation, Coxa vara, Cranial nerve paralysis, Cryptorchidism, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Global developmental delay, Hemiplegia/hemiparesis, Hypertelorism, Hypoplasia of the ulna, Hypoplastic philtrum, Hypotonia, Macrocephaly, Madelung deformity, Madelung-like forearm deformities, Microcephaly, Micromelia, Motor delay, Motor stereotypy, Multiple exostoses, Muscle weakness, Nail dysplasia, Neoplasm, Osteoarthritis, Osteolysis, Overlapping toe, Patent ductus arteriosus, Pelvic bone exostoses, Peripheral nerve compression, Pes planus, Poor speech, Preauricular skin tag, Protuberances at ends of long bones, Radial bowing, Recurrent fractures, Rib exostoses, Scapular exostoses, Scoliosis, Seizure, Short metacarpal, Short stature, Sparse hair, Strabismus, Synostosis of joints, Unsteady gait, Vascular dilatation, Ventricular septal defect