Abnormality of pelvic girdle bone morphology, Abnormality of the knee, Abnormality of the metaphysis, Absent or minimally ossified vertebral bodies, Anteverted nares, Aplasia/Hypoplasia of the lungs, Arthralgia, Bell-shaped thorax, Bilateral cleft palate, Bilateral talipes equinovarus, Blue sclerae, Bowing of the long bones, Brachydactyly, Breech presentation, Broad metacarpals, Broad phalanx, Camptodactyly, Camptodactyly of finger, Cerebral calcification, Cervical kyphosis, Cleft palate, Clinodactyly of the 5th finger, Coronal cleft vertebrae, Costal cartilage calcification, Cryptorchidism, Cystic hygroma, Cystic lesions of the pinnae, Depressed nasal bridge, Disproportionate short stature, Disproportionate short-limb short stature, Double-layered patella, Dumbbell-shaped femur, Edema, Elbow dislocation, Elbow flexion contracture, Epicanthus, Epiphyseal dysplasia, Equinovarus deformity, Excessive femoral anteversion, Facial midline hemangioma, Femoral hernia, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Frontal bossing, Full cheeks, Genu valgum, Glabellar hemangioma, Hearing impairment, Hip contracture, Hip dysplasia, Hitchhiker thumb, Hoarse voice, Horizontal sacrum, Hydrops fetalis, Hyperextensible skin, Hypertelorism, Hypertrophic auricular cartilage, Hypoplasia of the femoral head, Hypoplastic cervical vertebrae, Hypoplastic ilia, Hypotonia, Increased bone mineral density, Intrauterine growth retardation, Irregular epiphyses, Joint dislocation, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Laryngeal cartilage malformation, Laryngeal stenosis, Laryngotracheal stenosis, Lethal skeletal dysplasia, Limited elbow flexion, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Multiple epiphyseal dysplasia, Narrow chest, Neonatal short-limb short stature, Osteoarthritis, Overfolded helix, Plagiocephaly, Platyspondyly, Polyhydramnios, Protuberant abdomen, Proximal placement of thumb, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency, Rhizomelia, Rhizomelic arm shortening, Sandal gap, Scoliosis, Severe short stature, Short femur, Short finger, Short foot, Short greater sciatic notch, Short long bone, Short lower limbs, Short metacarpal, Short middle phalanx of finger, Short neck, Short nose, Short phalanx of finger, Short ribs, Short stature, Short thorax, Small hand, Spinal cord compression, Symphalangism affecting the phalanges of the hand, Talipes equinovarus, Telecanthus, Thickened nuchal skin fold, Thin upper lip vermilion, Thoracic hypoplasia, Thoracolumbar kyphoscoliosis, Tibial torsion, Tracheobronchomalacia, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Umbilical hernia, Upper limb undergrowth, Visceral angiomatosis, Wide nasal base, obsolete Abnormality of the metacarpal bones, obsolete Joint hyperflexibility