Delayed skeletal maturation, Depressed nasal bridge, Disproportionate short-limb short stature, Dyspnea, Epiphyseal dysplasia, Fifth metacarpal with ulnar notch, Hepatomegaly, Herniation of intervertebral nuclei, Hoarse voice, Hypertrichosis, Hypoplasia of the maxilla, Intervertebral space narrowing, Joint stiffness, Long eyelashes, Long philtrum, Mandibular prognathia, Microdontia, Mitral valve prolapse, Narrow mouth, Narrow vertebral interpedicular distance, Oligodontia, Ovoid vertebral bodies, Platyspondyly, Pneumonia, Polyhydramnios, Respiratory insufficiency, Round face, Severe short stature, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Sleep apnea, Small hand, Subglottic stenosis, Thick lower lip vermilion, Thick vermilion border, Thickened skin, Tracheal stenosis, Wide nasal bridge, Widely spaced teeth

abnormal frontal bone morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone metaphysis morphology, abnormal neurocranium morphology, abnormal synchondrosis, abnormal thoracic cage shape, abnormal thoracic vertebrae morphology, decreased body size, domed cranium, ectopic cranial bone, excessive tearing, hindlimb paralysis, increased trabecular bone mass, increased width of hypertrophic chondrocyte zone, occipital bossing, osteosclerosis, premature bone ossification, preweaning lethality, incomplete penetrance, reduced enamel thickness, round head, round orbits, short basicranium, short maxilla