Brachycephaly, Broad ribs, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse metaphyseal trabecularization, Conductive hearing impairment, Craniofacial osteosclerosis, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dental crowding, Dental malocclusion, Dysphasia, Echolalia, Epicanthus, Facial hyperostosis, Facial palsy, Failure to thrive, Fibular aplasia, Fibular hypoplasia, Flat face, Flat occiput, Flexion contracture of toe, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Headache, High iliac wing, High palate, High, narrow palate, Hydrocephalus, Hyperlordosis, Hypertelorism, Hypotonia, Increased bone mineral density, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Joint contracture of the hand, Large fontanelles, Large iliac wing, Laryngeal web, Low-set ears, Macrocephaly, Micrognathia, Microtia, Multicystic kidney dysplasia, Mutism, Narrow forehead, Nasal speech, Natal tooth, Oligohydramnios, Omphalocele, Osteopathia striata, Osteopetrosis, Overfolded helix, Paranasal sinus hypoplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pectus excavatum, Pierre-Robin sequence, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Retrognathia, Sclerosis of skull base, Scoliosis, Seizure, Severe short stature, Short stature, Specific learning disability, Spina bifida occulta, Straight clavicles, Submucous cleft hard palate, Talipes equinovarus, Thick lower lip vermilion, Thickened calvaria, Thoracolumbar kyphosis, Tracheomalacia, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge