Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Fryns Macrocephaly |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... |
OMIM:600302 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Discolored lateral incisors, Oligodontia, Irregular vertebral endplates, Platyspondyly, Genu valg... |
OMIM:601668 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Galloway-Mowat Syndrome 6 |
|
High palate, Wide mouth, Microdontia, Downturned corners of mouth, Delayed skeletal maturation, H... |
OMIM:618347 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Spondylosis, Cervical |
|
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300602 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Cleft palate, Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Pyle Disease |
|
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Platyspondyly, Delayed eruptio... |
OMIM:265900 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Cleft palate, High palate, Pierre-Robin sequence, Hip contracture, K... |
OMIM:618363 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300431 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Worm... |
OMIM:265800 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Long philtrum, Short nose, Wide nasal bridge, Hip dislocation, T... |
OMIM:615583 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Short nose, Patchy distortion of vertebrae, Dental malocclusion |
OMIM:155050 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... |
ORPHA:166108 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Macroglossia, Scoliosis, Hypoalbuminemia |
ORPHA:79320 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Hypodontia, Dens in dente, Spinal canal stenosis, Vertebral fusion, Hemiverteb... |
OMIM:263540 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Macroglossia, Achilles tend... |
OMIM:606612 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Hypodontia, Cleft palate, Vertebral fusion, Hemivertebrae, Mandibular prognathia, Abnormal form o... |
ORPHA:2916 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Cleft palate, Antecubital pterygium, Fused cervical vertebrae, Short neck, Fle... |
OMIM:618469 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Short neck,... |
OMIM:616202 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Vertebral fusion, Hemivertebrae, Joint contracture of the ha... |
OMIM:113000 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... |
OMIM:618729 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Hypodontia, Micrognathia, Proximal symphalangism of hands, Microdontia, Oligod... |
ORPHA:363417 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Camptodactyly, Long philtrum, Hypoalbuminemia |
OMIM:608104 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... |
ORPHA:90650 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Joint hypermobility, Scoliosis, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Gorlin Syndrome |
|
Carious teeth, Vertebral fusion, Vertebral wedging, Hemivertebrae, Mandibular prognathia, Wide na... |
ORPHA:377 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Cleft palate, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostos... |
OMIM:178110 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Smooth philtrum, Oligodontia, Malar flattening, Gingival overgrowth, Delayed eru... |
OMIM:235510 |
Kbg Syndrome |
|
Cleft palate, Vertebral fusion, Oligodontia, Long philtrum, Widely-spaced maxillary central incis... |
ORPHA:2332 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Aarskog-Scott Syndrome |
|
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Wide na... |
ORPHA:915 |
Dental Anomalies And Short Stature |
|
Widely spaced teeth, Herniation of intervertebral nuclei, Intervertebral space narrowing, Microdo... |
OMIM:601216 |
Mental Retardation, Autosomal Dominant 21 |
|
Cleft palate, Long philtrum, Thin vermilion border, Sacral dimple, Narrow mouth, Incisor macrodontia |
OMIM:615502 |
Nephrotic Syndrome, Type 11 |
|
Micrognathia, Cleft palate, Smooth philtrum, High palate, Hypercholesterolemia, Cleft lip, Hypoal... |
OMIM:616730 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Exaggerated median tongue furrow,... |
ORPHA:313892 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... |
OMIM:613686 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Macroglossia, Achilles tend... |
OMIM:607155 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Genu varum, Reduced bone mineral density, Hyperlordosis, Delayed skeletal maturati... |
ORPHA:2501 |
Asymmetric Short Stature Syndrome |
|
Micrognathia, Dental crowding, Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip, Abnormal vertebral segmentation and fusion, Short neck, Limited el... |
OMIM:244600 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Scoliosis, Hypoalbuminemia |
OMIM:208920 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge, Sco... |
OMIM:309620 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... |
OMIM:610967 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Partial fusion ... |
OMIM:305620 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short n... |
OMIM:214300 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Cleft palate, Diastema, Microdontia, Talon cusp, Deep philtrum, Carpal synosto... |
OMIM:605282 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Abnormal sacrum morphology, Abnormal vertebral... |
ORPHA:2345 |
Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia, Wide nasal bridge |
OMIM:262020 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain |
OMIM:122600 |
Kbg Syndrome |
|
Vertebral fusion, Oligodontia, Long philtrum, Widely-spaced maxillary central incisors, Vertebral... |
OMIM:148050 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme... |
ORPHA:66637 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Long nose, Long philtrum, Abnor... |
OMIM:257850 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Micrognathia, High palate, Long philtrum, Cervical C2/C3 vertebral fusion, Everted lower lip verm... |
OMIM:616549 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... |
OMIM:216550 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Cleft palate, Vertebral fusion, Cleft upper lip, Increased susceptibility to fractu... |
OMIM:312150 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Otodental Dysplasia |
|
Ankylosis, Hypodontia, Pulp calcification, Long philtrum, Taurodontia |
OMIM:166750 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding |
OMIM:600907 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Leishmaniasis |
|
Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Hypoalbuminemia |
ORPHA:507 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Mandibular prognathia, Malar ... |
ORPHA:364028 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, High palate, Vertebral ... |
ORPHA:93315 |
Multiple Pterygium Syndrome, Lethal Type |
|
Micrognathia, Cleft palate, Vertebral fusion, Increased susceptibility to fractures, Joint disloc... |
OMIM:253290 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Micrognathia, Cleft palate, Talon cusp, Osteoporosis, Craniosynostosis, Shor... |
ORPHA:2409 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Hyperlordosis... |
ORPHA:2522 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Hypodontia, Cleft palate, Microdontia, Vertebral fusion, Abnormal dental ena... |
ORPHA:96169 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density |
OMIM:190320 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Macroglossia, Wide nasal bridge, Acetabular dysplasia, Thick vermilion border, F... |
OMIM:617303 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Micrognathia, High palate, Smooth philtrum, Vertebral fusion, Long ph... |
OMIM:130720 |
Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Hypoplasia of the odontoid process, Cleft palate, Failure of eruption of perma... |
OMIM:272460 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Metaca... |
OMIM:144750 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Thick lower lip vermilion, Micrognathia, Clef... |
OMIM:154780 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Micrognathia, Cervical instability, Laryngotracheomalacia, Abnormal vertebral morp... |
ORPHA:93346 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Hip dislocation,... |
OMIM:203550 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Kniest Dysplasia |
|
Cleft palate, Laryngotracheomalacia, Pierre-Robin sequence, Vertebral wedging, Coronal cleft vert... |
ORPHA:485 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Juvenile rheumatoid arthritis, Hypertriglyceridemia... |
ORPHA:158061 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Kyphosis, Osteopenia, Thin upper lip vermilion, Hypoalbuminemia, Flexion con... |
OMIM:212065 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Abnormal palate morphology, Micrognathia, Open bite, Reduced bone mineral density,... |
ORPHA:2617 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentr... |
ORPHA:89842 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Long philtrum, Wide nasal bridge, Fused cervical vertebrae, Carpal synostosis,... |
OMIM:157800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Knee pain, Hypoalbuminemia |
OMIM:614441 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Shovel-shaped maxillary central incisors, Wide nasal bridge, Dental crowding, Open mouth |
OMIM:600906 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Short ... |
OMIM:118100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar kyphosis, Macroglossia, Short nose, Thoracic kyphosis, Thick vermilion border, Hypoalbumin... |
ORPHA:505248 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Absent uvula, Malar flattening, Short nose, Hypoplastic sacrum, Thin upper lip vermilion, Delayed... |
OMIM:268310 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
Osteogenesis Imperfecta, Type Xi |
|
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... |
OMIM:610968 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... |
OMIM:253000 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Fibrodysplasia Ossificans Progressiva |
|
Widely spaced teeth, Ectopic ossification in muscle tissue, Ectopic ossification in ligament tiss... |
OMIM:135100 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Micrognathia, High palate, Hip dislocation, Narrow mouth, Camptodactyly |
OMIM:617729 |
Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Hypophosphatasia, Adult |
|
Carious teeth, Chondrocalcinosis, Premature loss of permanent teeth, Rickets, Increased susceptib... |
OMIM:146300 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Osteoporosis, Platyspondyly, Osteopenia, Recurrent fractures, Scoliosis |
OMIM:126550 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia |
OMIM:619055 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Oligodontia, Hypoplastic fr... |
ORPHA:90652 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulat... |
ORPHA:36234 |
Alg12-Cdg |
|
Hyponatremia, Micrognathia, Short philtrum, Hypocholesterolemia, Abnormal bone ossification, Thin... |
ORPHA:79324 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Generalized osteosclerosis, Joint dislocation, Arthritis, Osteomyelitis, Genu valg... |
ORPHA:53 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Genu varum, Microdontia, Mandibular prognathia, Sclerosis of skull ba... |
OMIM:269300 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta |
OMIM:101805 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border, Scoliosis |
ORPHA:530983 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Spinal canal stenosis, Wide mouth, Abnormal dental enamel morphology, Platyspondyl... |
ORPHA:582 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Contractures involving the joints of the feet... |
ORPHA:444072 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... |
OMIM:253010 |
Mosaic Trisomy 20 |
|
Micrognathia, Cleft palate, Limited pronation/supination of forearm, Vertebral fusion, Spinal can... |
ORPHA:1724 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Failure of eruption of permanent teeth, Long nose, Mandibular prognathia, Increase... |
ORPHA:2769 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:613090 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Genu varum, Genu valgum, Delayed skeletal maturation, Hypoplasia of teeth, Hypopho... |
OMIM:613312 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Aicardi-Goutieres Syndrome 9 |
|
Osteoporosis, Scoliosis, Hypoalbuminemia |
OMIM:619487 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Kyphoscoliosis, Retrognathia, Impaired mastic... |
ORPHA:466722 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Conical incisor, Micrognathia, Long philtrum, Maxillary lateral incisor microdontia, Thin vermili... |
ORPHA:73223 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Wide nasal bridge, Tented upper lip vermilion, Abnormality of primary teeth, Thin up... |
ORPHA:438216 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Stomatitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive ... |
OMIM:612852 |
Pallister W Syndrome |
|
Agenesis of central incisor, Cubitus valgus, Joint contracture of the hand, Wide nasal bridge, Br... |
OMIM:311450 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Wide mouth, Vertebral fusion, Hyperextensible hand joints, Short nose, Deep philtrum... |
OMIM:227330 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Enamel hypoplasia, Hypoalbuminemia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Delayed cranial suture c... |
ORPHA:763 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Cleft palate, Dysplastic patella, Micrognathia, High palate, Patellar aplasia, Neck pterygia, Lon... |
OMIM:265000 |
Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... |
ORPHA:2751 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia |
ORPHA:1667 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Long nose, Fused cervical vertebrae |
OMIM:184460 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Long philtrum, Malar flattening, Shoulder dislocation, Anterior vertebral fusion, Elb... |
OMIM:171480 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, High palate, Wide mouth, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:251300 |
Mohr Syndrome |
|
Micrognathia, Cleft palate, High palate, Agenesis of central incisor, Tongue nodules, Accessory o... |
OMIM:252100 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... |
OMIM:203500 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Kyphoscoliosis, Abnormal circulatin... |
ORPHA:14 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, O... |
OMIM:601678 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger |
ORPHA:1883 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:602522 |
Ellis Van Creveld Syndrome |
|
Conical incisor, Hypodontia, Microdontia, Capitate-hamate fusion, Cubitus valgus, Thin vermilion ... |
ORPHA:289 |
Basal Cell Nevus Syndrome |
|
Odontogenic keratocysts of the jaw, Cleft palate, Irregular ossification of hand bones, Vertebral... |
OMIM:109400 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Wide mouth, Long philtrum, Bifid uvula, Na... |
OMIM:222470 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Posterior wedging of vertebral bodies, Smooth philtrum, High palate, Microdontia, ... |
ORPHA:50814 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... |
ORPHA:3109 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Macroglossia, Xerostomia, Increased circulating NT-proBNP con... |
ORPHA:85443 |
Robinow Syndrome |
|
Hypodontia, Micrognathia, Dental crowding, Hemivertebrae, Long philtrum, Kyphoscoliosis, Tooth ma... |
ORPHA:97360 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Caudal Regression Sequence |
|
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... |
ORPHA:3027 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Limitation of... |
ORPHA:3145 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Bone pain, Abnormal circulating albumin concentration |
ORPHA:86839 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Carious teeth, Micrognathia, High palate, Long philtrum, Kyphoscoliosis, Narrow mouth, Limited el... |
OMIM:272430 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... |
ORPHA:1798 |
Koolen-De Vries Syndrome |
|
Widely spaced teeth, High palate, Cleft palate, Vertebral fusion, Cleft upper lip, Kyphosis, Join... |
OMIM:610443 |
Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial osteosclerosis, Decreased sk... |
ORPHA:93324 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, High palate, Unconjugated hyperbilirubinemia, Rickets, Reduced bone mineral dens... |
OMIM:613658 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Mi... |
ORPHA:364577 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Smith-Magenis Syndrome |
|
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Abnormal form... |
ORPHA:819 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Abnormal circulating lipid concentration, Abnormal circulatin... |
ORPHA:2298 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hypocalcemia, Osteomyelitis, Hypomagnesemia, Hypoalbuminemia, Abnorma... |
ORPHA:37042 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Delayed clo... |
OMIM:225410 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... |
ORPHA:186 |
Non-Specific Syndromic Intellectual Disability |
|
Micrognathia, High palate, Smooth philtrum, Long philtrum, Thin vermilion border, Wide nasal brid... |
ORPHA:528084 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
Bartter Syndrome, Type 2, Antenatal |
|
Chondrocalcinosis, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Osteopenia, Hypo... |
OMIM:241200 |
Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Wide nasal bridge, Delaye... |
OMIM:157980 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynostosis, Calvaria... |
OMIM:259700 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Fused cervical vertebrae, Retrognathia, Spina bifida occulta, Submucous clef... |
OMIM:619227 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Micrognathia, Cleft palate, Oligodontia, Limitation ... |
ORPHA:1826 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion |
ORPHA:370010 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis |
OMIM:271520 |
Atelosteogenesis, Type I |
|
Knee dislocation, Micrognathia, Cleft palate, Coronal cleft vertebrae, Short nose, Malar flatteni... |
OMIM:108720 |
Myhre Syndrome |
|
Cleft palate, Short philtrum, Vertebral fusion, Mandibular prognathia, Malar flattening, Platyspo... |
OMIM:139210 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Genu varum, Cleft palate, Aplasia/Hypoplasia of the patella, Fused cervical vertebr... |
ORPHA:3320 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
Doors Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Macrodontia of permanent maxillary central inciso... |
ORPHA:79500 |
Duane Retraction Syndrome |
|
Micrognathia, Cleft palate, Abnormal vertebral segmentation and fusion, Abnormal form of the vert... |
ORPHA:233 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Micrognathia, High palate, Calcinosis, Premature loss of teeth, Hyperlipidemia, Wormian bones, Ac... |
OMIM:248370 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:99826 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Narrow mouth, Hypoalbuminemia |
ORPHA:79076 |
W Syndrome |
|
Cubitus valgus, Elbow dislocation, Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxilla... |
ORPHA:2804 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed skeletal maturation, Delayed cranial suture closure, Hypoplasia of the maxilla, Micrognat... |
OMIM:180849 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Calcinosis, Taurodontia, Enamel hypoplasia, Hyperphosphatemia |
OMIM:211900 |
Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Malar flattening, Bifid uvu... |
OMIM:101200 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level |
ORPHA:89938 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Bone pain |
ORPHA:88673 |
Osteogenesis Imperfecta |
|
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... |
ORPHA:666 |
Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Cleft palate, Wide mouth, Vertebral fusion, Macroglossia, Mandibular prognat... |
ORPHA:373 |
Craniofacial Microsomia |
|
Micrognathia, Cleft palate, Wide mouth, Hemivertebrae, Cleft upper lip, Malar flattening, Vertebr... |
OMIM:164210 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis |
OMIM:150400 |
Ctcf-Related Neurodevelopmental Disorder |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Microdontia, Short philtrum, Lo... |
ORPHA:363611 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Delayed closure of the a... |
OMIM:607812 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... |
ORPHA:90363 |
X-Linked Hypophosphatemia |
|
Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros... |
ORPHA:89936 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Bifid uvula, Delayed erupti... |
ORPHA:87 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Abnormality of the curvature of the vertebral column, Hypodontia, Talon cusp, Avas... |
ORPHA:353281 |
Orofacial Cleft 15 |
|
Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip, Palate fistula |
OMIM:616788 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Micrognathia, Long philtrum, Mandibular prognathia, Generalized joint laxity, Wide nasal bridge, ... |
ORPHA:508498 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Schimke Immuno-Osseous Dysplasia |
|
Hypodontia, Abnormality of primary molar morphology, Microdontia, Hyperlipidemia, Platyspondyly, ... |
ORPHA:1830 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Cleft palate, Hypodontia, Short philtrum, Vertebral fusion, Radioulnar synostosis, ... |
OMIM:194190 |
Thakker-Donnai Syndrome |
|
Hemivertebrae, Cervical C2/C3 vertebral fusion, Downturned corners of mouth, Narrow mouth, Short ... |
ORPHA:1780 |
Peters-Plus Syndrome |
|
Widely spaced teeth, Conical incisor, Micrognathia, Cleft palate, Short lingual frenulum, Hemiver... |
OMIM:261540 |
Primary Sclerosing Cholangitis |
|
Osteoporosis, Osteopenia, Hypoalbuminemia |
ORPHA:171 |
Aicardi Syndrome |
|
Cleft palate, Butterfly vertebrae, Short philtrum, Cleft upper lip, Block vertebrae, Scoliosis, P... |
ORPHA:50 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Cleft palate, Short philtrum, Pierre-Robin sequence, Hip contracture, Bifid uvula, D... |
OMIM:617137 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Vertebral hyp... |
OMIM:164200 |
Aicardi Syndrome |
|
Cleft palate, Butterfly vertebrae, Hemivertebrae, Cleft upper lip, Block vertebrae, Scoliosis, Pr... |
OMIM:304050 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Arthritis, Osteomyelitis, Hypoalbuminemia, Oral ulcer, Osteomalacia, Elevated circ... |
OMIM:619381 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypochloremia, Accelerated skeletal maturation |
ORPHA:90794 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae |
ORPHA:94095 |
Aspartylglucosaminuria |
|
Carious teeth, Abnormal vertebral morphology, Macroglossia, Mandibular prognathia, Beaking of ver... |
ORPHA:93 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Aplasia of the epiglottis, Cleft l... |
OMIM:268305 |
Isolated Cleft Lip |
|
Hypodontia, Supernumerary maxillary incisor, Velopharyngeal insufficiency, Non-midline cleft lip,... |
ORPHA:199302 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Fused cervical vertebrae |
OMIM:609053 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Abnormality of the curvature of the vertebral column, Micrognathia, High palate, H... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Abnormality of the curvature of the vertebral column, Micrognathia, High palate, H... |
ORPHA:353277 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Hypophosphatemia, Abnormal dental enamel morphology, Delayed... |
ORPHA:534 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... |
ORPHA:268882 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Knee dislocation, Elevated circulating creatinine concentration, Hyperbilirubinemia, Osteopenia, ... |
OMIM:619534 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Narrow mouth, Hypoalbuminemia |
OMIM:614748 |
Holoprosencephaly 9 |
|
Bilateral cleft lip and palate, Cleft palate, Short philtrum, Cleft upper lip, Solitary median ma... |
OMIM:610829 |
Pmm2-Cdg |
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Hypoalbuminemia, High palate, Wide mouth, Long philtrum, Mandibular prognathia, Kyphoscoliosis, O... |
ORPHA:79318 |
Acro-Renal-Ocular Syndrome |
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Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Thrombocytopenia-Absent Radius Syndrome |
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Micrognathia, Genu varum, Patellar aplasia, Malar flattening, Fused cervical vertebrae, Hip dislo... |
OMIM:274000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Micrognathia, Cleft palate, Wide nasal bridge, Fused cervical vertebrae, Cleft vertebral arch, Co... |
ORPHA:83617 |
Chand Syndrome |
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Cleft palate, Bifid tongue, Abnormal oral frenulum morphology, Commissural lip pit, Agenesis of p... |
ORPHA:1401 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, High palate, Long philtrum, Macroglossia, Abnormal vertebral morphology, Cervical C... |
ORPHA:444077 |
Bloom Syndrome |
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Agenesis of maxillary lateral incisor, Malar flattening |
OMIM:210900 |
Duane-Radial Ray Syndrome |
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Spina bifida occulta, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Lacrimoauriculodentodigital Syndrome |
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Carious teeth, Conical incisor, Hypodontia, Aplasia of the parotid gland, Absence of Stensen duct... |
OMIM:149730 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia |
ORPHA:75565 |
Enamel-Renal Syndrome |
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Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... |
ORPHA:1031 |
Microphthalmia, Syndromic 1 |
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High, narrow palate, High palate, Cleft upper lip, Kyphoscoliosis, Tooth malposition, Joint contr... |
OMIM:309800 |
Generalized Arterial Calcification Of Infancy |
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Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... |
ORPHA:51608 |
Kinsship Syndrome |
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Widely spaced teeth, Thick lower lip vermilion, Micrognathia, Smooth philtrum, Wide mouth, Short ... |
OMIM:619297 |