11 pairs of ribs, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal cervical curvature, Abnormal diaphysis morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal form of the vertebral bodies, Abnormal hand bone ossification, Abnormal internal genitalia, Abnormality involving the diaphyses of the limbs, Abnormality of body height, Abnormality of calvarial morphology, Abnormality of cardiac atrium, Abnormality of cardiac ventricle, Abnormality of carpal bone ossification, Abnormality of central motor function, Abnormality of dental enamel, Abnormality of dental structure, Abnormality of facial skeleton, Abnormality of finger, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of periauricular region, Abnormality of phalanx of finger, Abnormality of prenatal development or birth, Abnormality of skeletal maturation, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin adnexa, Abnormality of the 5th finger, Abnormality of the acetabulum, Abnormality of the amniotic fluid, Abnormality of the anterior segment of the eye, Abnormality of the aorta, Abnormality of the atrial septum, Abnormality of the bronchi, Abnormality of the calcaneus, Abnormality of the calf, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the carpal bones, Abnormality of the central nervous system, Abnormality of the cervical spine, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the distal phalanx of the thumb, Abnormality of the ear, Abnormality of the elbow, Abnormality of the epiphyses, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the femur, Abnormality of the fibula, Abnormality of the foot, Abnormality of the forearm, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the knees, Abnormality of the larynx, Abnormality of the lens, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the maxilla, Abnormality of the metacarpal bones, Abnormality of the metatarsal bones, Abnormality of the middle ear, Abnormality of the midface, Abnormality of the mouth, Abnormality of the nail, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the odontoid process, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the phalanges of the thumb, Abnormality of the posterior segment of the eye, Abnormality of the proximal phalanges of the hand, Abnormality of the radius, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the retinal pigment epithelium, Abnormality of the rib cage, Abnormality of the ribs, Abnormality of the sacrum, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the spinal cord, Abnormality of the sternum, Abnormality of the systemic arterial tree, Abnormality of the tarsal bones, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the tibia, Abnormality of the trachea, Abnormality of the tracheobronchial system, Abnormality of the ulna, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the vasculature, Abnormality of the ventricular septum, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the wrist, Abnormality of the zygomatic arch, Abnormality of toe, Abnormality of upper lip, Abnormal joint morphology, Abnormal nasal morphology, Abnormal number of teeth, Abnormal ossification of hand bones, Abnormal shape of the frontal region, Abnormal shape of the occiput, Absent ossification/absent forearm bones, Absent radius, Accessory carpal bones, All, Anteverted nares, Aortic dilatation, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving forearm bones, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia involving the vertebral column, Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of the cervical spine, Aplasia/Hypoplasia of the extremities, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the vertebrae, Aplasia involving forearm bones, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Bowed forearm bones, Bowing of the arm, Bowing of the legs, Bowing of the long bones, Brachydactyly syndrome, Broad face, Broad finger, Broad phalanges of the hand, Broad phalanx, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cephalocele, Cervical kyphosis, cervical spine segmentation defects, Cervical subluxation, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Clubbing, Cognitive impairment, Conductive hearing impairment, Coronal cleft vertebrae, Cryptorchidism, Death, Defect in the atrial septum, Delayed skeletal maturation, Deviation/Displacement of the thumb, Deviation of finger, Deviation of the 5th finger, Deviation of the hand or of fingers of the hand, Dislocations of the wrists, Disproportionate short stature, Disproportionate short-trunk short stature, Distal tapering femur, Duplication of bones involving the upper extremities, Duplication of hand bones, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Flat acetabular roof, Frontal bossing, Functional abnormality of the middle ear, Fused cervical vertebrae, Genu varum, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hypertelorism, Hypodontia, Hypopigmentation of the fundus, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Intellectual disability, Joint dislocation, Joint hypermobility, Joint laxity, Knee dislocation, Kyphosis, Laryngeal stenosis, Localized skin lesion, Malar flattening, Malformation of the heart and great vessels, Micrognathia, Missing ribs, Mixed hearing impairment, Mode of inheritance, Morphological abnormality of the central nervous system, Multiple carpal ossification centers, Nail dysplasia, Neonatal death, Onset and clinical course, Oral cleft, Pectus carinatum, Pectus excavatum, Pes planus, Phenotypic abnormality, Platyspondyly, Polyhydramnios, Positional foot deformities, Preauricular skin tag, Premature birth, Prominent occiput, Proptosis, Radial bowing, Radial deviation of finger, Radial deviation of the hand or of fingers of the hand, Rarefaction of retinal pigmentation, Reduced number of teeth, Renal cysts, Restrictive lung disease, Rigidity, Sandal gap, Scoliosis, Shallow orbits, Short digit, Short long bones, Short metacarpal, Short metatarsal bone, Short nail, Short neck, Short stature, Skeletal dysplasia, Skin tags, Spatulate thumbs, Spina bifida, Spina bifida occulta, Spinal cord compression, Spinal dysraphism, Spondylolysis, Synostosis involving bones of the feet, Synostosis involving bones of the hand, Synostosis involving bones of the lower limbs, Synostosis involving bones of the upper limbs, Synostosis of carpals/tarsals, Synostosis of joints, Talipes, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Ventricular septal defect, Vertebral clefting, Vertebral fusion, Vertebral hypoplasia, Vertebral segmentation defect, Widened distal phalanges.