Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... |
OMIM:309620 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... |
ORPHA:90650 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short nose |
OMIM:155050 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... |
OMIM:214300 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Short neck, Hemivertebrae, Hip dislocat... |
OMIM:615583 |
Diaphanospondylodysostosis |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte... |
OMIM:244600 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short neck, Hypoplasia of th... |
ORPHA:915 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Carious teeth, Hemivertebrae, Wide nasal bridge, Vertebr... |
ORPHA:377 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli... |
OMIM:601216 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... |
OMIM:616549 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... |
OMIM:146300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Kyphosis, High... |
ORPHA:96169 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Camptod... |
OMIM:617333 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... |
ORPHA:93315 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Micrognathia, Kyphosis, Short neck, Malar prominence, ... |
ORPHA:2522 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis |
OMIM:607155 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... |
OMIM:118100 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft pal... |
OMIM:130720 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he... |
OMIM:268310 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:265800 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d... |
ORPHA:90652 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... |
ORPHA:1724 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated... |
OMIM:150250 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Thick vermilion border, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... |
ORPHA:93346 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... |
OMIM:213980 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Trismus, Deep philtrum, Hyperextensible hand joints, Dental malocclusion, Narro... |
OMIM:227330 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Long p... |
OMIM:171480 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Cleft upper lip, Kyphosis, Hip dislocat... |
OMIM:610443 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Genu... |
OMIM:269300 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... |
OMIM:109400 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Micrognathia, Persistence of primary t... |
ORPHA:97360 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... |
OMIM:253000 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye... |
ORPHA:582 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... |
OMIM:613312 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Downturned corners of mouth, Lumbar scoliosis, High palate, Short philtrum,... |
OMIM:617796 |
Kbg Syndrome |
|
Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Delayed skeletal maturatio... |
OMIM:148050 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph... |
ORPHA:1798 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cer... |
OMIM:617190 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion |
ORPHA:370010 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve... |
ORPHA:3320 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis |
ORPHA:2760 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Stomatitis |
OMIM:612852 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Joint stiffness, H... |
OMIM:139210 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butter... |
OMIM:619227 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Duane Retraction Syndrome |
|
Short neck, Micrognathia, Spina bifida occulta, Wide nasal bridge, Abnormal form of the vertebral... |
ORPHA:233 |
Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati... |
OMIM:108720 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme... |
OMIM:101200 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Acc... |
ORPHA:373 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca... |
ORPHA:2769 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost... |
OMIM:619718 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Thoracic scoliosis, Cervical hemivertebrae, Thin upper ... |
ORPHA:508498 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Cleft upper lip, Micrognathia, Kyphosis, Delayed skeletal matura... |
OMIM:194190 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque... |
OMIM:617137 |
Thakker-Donnai Syndrome |
|
Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth, Cervical C2/C3 vertebral fu... |
ORPHA:1780 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof |
OMIM:617159 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Short neck, Micrognathia, Sh... |
OMIM:613458 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Cleft palate, Short philtrum, Sco... |
ORPHA:50 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Chops Syndrome |
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High, narrow palate, Downturned corners of mouth, Long philtrum, Tracheomalacia, Cervical C2/C3 v... |
OMIM:616368 |
Aicardi Syndrome |
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Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hemivertebrae, Cleft palate, Scol... |
OMIM:304050 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Wide nasal bridge, Wide mouth, Fuse... |
OMIM:157800 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Wide nasal bridge, ... |
ORPHA:83617 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Wormian bones, Micrognathia, Downturned corners of mouth, Glossoptosis,... |
ORPHA:444077 |
Duane-Radial Ray Syndrome |
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Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Aspartylglucosaminuria |
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Mandibular prognathia, Joint stiffness, Abnormality of the dentition, Carious teeth, Delayed skel... |
ORPHA:93 |
Thrombocytopenia-Absent Radius Syndrome |
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Micrognathia, Patellar aplasia, Hip dislocation, Cleft palate, Fused cervical vertebrae, Patellar... |
OMIM:274000 |
Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hemivertebrae, Cleft p... |
OMIM:164210 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... |
ORPHA:51608 |