Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia |
OMIM:190320 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Craniosynostosis 3 |
|
Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn... |
OMIM:615314 |
Craniometadiaphyseal Dysplasia |
|
High palate, Sclerosis of skull base, Broad long bones, Wide anterior fontanel, Malar flattening,... |
OMIM:269300 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... |
OMIM:601561 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
Ramon Syndrome |
|
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, A... |
ORPHA:3019 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Wide anterior fontanel, Coxa valga, Increased bone mineral density, Malar flattening... |
ORPHA:85184 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Short toe, Hypodontia, Recurrent mandibular subluxa... |
OMIM:225410 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fon... |
ORPHA:163649 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... |
OMIM:265900 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Wormian bones, Upper limb undergrowth, Pathologic fr... |
ORPHA:166277 |
Hyaline Fibromatosis Syndrome |
|
Failure to thrive, Gingival overgrowth, Flexion contracture, Osteopenia, Osteoporosis, Gingival f... |
OMIM:228600 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognath... |
OMIM:259420 |
Intermediate Osteopetrosis |
|
Dental malocclusion, Cortical sclerosis, Osteomyelitis, Recurrent fractures, Osteosclerosis of th... |
ORPHA:210110 |
Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Clinodactyly of the 5th finger, Genu re... |
ORPHA:137834 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... |
ORPHA:3352 |
Gorham-Stout Disease |
|
Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Abnormal bone ossificati... |
ORPHA:73 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... |
OMIM:612350 |
Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Flexion contracture, Oligodontia, Broad foot, Osteolysis, Ankle sw... |
OMIM:221810 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Fragile teeth, Thin bony cortex, Pathologic fracture, Osteolysis, Bowing... |
OMIM:174810 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Ca... |
ORPHA:2501 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... |
OMIM:113000 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flatt... |
OMIM:602849 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... |
OMIM:601668 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... |
OMIM:613849 |
Xanthoma Disseminatum |
|
Osteolysis, Abnormal lip morphology |
ORPHA:158003 |
Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Gingival overgrowth, Gingival fibromatosis, Osteolysis, Progressive flexion cont... |
ORPHA:2028 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Micrognathia, Camptodactyly of finger, Cachexia, Slender long bone,... |
ORPHA:2774 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Anterior... |
OMIM:610967 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
High palate, Wide anterior fontanel, Talipes equinovarus, Large posterior fontanelle, Long philtr... |
OMIM:614872 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi... |
OMIM:604922 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Splenomegaly, A... |
ORPHA:61 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Wide anterior fontanel, C... |
ORPHA:3098 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Progeroid Syndrome, Petty Type |
|
Short distal phalanx of finger, Failure to thrive, Wide anterior fontanel, Tooth agenesis, Everte... |
ORPHA:2963 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... |
OMIM:619795 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, W... |
OMIM:610915 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:601390 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Short clavicles, Wide anterior fontanel, Talipes equinovarus, M... |
OMIM:615546 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Wide anterior fontanel, Narrow greater sciatic notch, Flexion contra... |
OMIM:263210 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Micrognathia, Short 1s... |
OMIM:619135 |
Larsen-Like Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus,... |
OMIM:608545 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor... |
OMIM:190350 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormality of the dentition, Oligodontia, Osteoarthritis, Brachydactyly, Abnormality of the wris... |
ORPHA:1657 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Palmoplantar hyperhidrosis, Abnormality of the tongue, Hypodontia, Abnormality of the dentition, ... |
ORPHA:659 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Abnormality of t... |
ORPHA:93160 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Taurodontia, Thin vermilion border, Cutaneous finger syndactyly, ... |
OMIM:614378 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... |
OMIM:619489 |
Hall-Riggs Mental Retardation Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Failure to thrive, Hypoplasia of the primary... |
OMIM:234250 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Cone-shaped epiphysis, Delayed eruption of teeth, Oste... |
ORPHA:71267 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Brachydactyly, High, narrow palate, Joint laxity |
OMIM:619692 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Osteolysis, Cleft palate |
ORPHA:494 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... |
OMIM:613684 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Enamel hypoplasia, Hypoplastic f... |
OMIM:253250 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... |
OMIM:619736 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... |
OMIM:146300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Short femur, Adducted thumb, Micrognathia, Osteopenia, ... |
OMIM:616897 |
Otopalatodigital Syndrome, Type Ii |
|
Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rud... |
OMIM:304120 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Wide anterior fontanel, Cleft palate, Malar flattening, Osteopenia, High... |
OMIM:607812 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Decreased body weight, Prominence of the premaxilla, Delayed closure of t... |
OMIM:614886 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Tapered f... |
OMIM:300602 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Wormian bones, ... |
OMIM:259440 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
Rhizomelic Syndrome |
|
Wide anterior fontanel, Micrognathia, Rhizomelia, Bifid distal phalanx of the thumb, Complete dup... |
OMIM:268250 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Pseudopseudohypoparathyroidism |
|
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Obesity, Short metatar... |
OMIM:612463 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Anemia, Inflammation of the large intestine, Arthritis, Abnormal epiphysis morphol... |
ORPHA:324964 |
Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Failure to thrive, Joint stiffness, Microretrognathia, Flexion contracture, ... |
OMIM:614008 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ... |
ORPHA:2409 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... |
OMIM:601853 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Tapered f... |
OMIM:300431 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... |
OMIM:618150 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal palate morphology, Wide mouth, Wide anterior fontanel, Ectopic anus, Anal atresia, Cleft... |
ORPHA:85199 |
Anauxetic Dysplasia 3 |
|
Wide anterior fontanel, Metaphyseal cupping, Retrognathia, Femoral bowing, Oligodontia, Trident h... |
OMIM:618853 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Osteopenia, Bowing of the long bones, Short long bone, Talipes equinovar... |
OMIM:249420 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... |
OMIM:601560 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Cleft palate, Abnormally ossified vertebrae, Glossoptosis, Micrognathia, D... |
ORPHA:94068 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Reduced bone mineral... |
ORPHA:3079 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Tibial bowing, Hypophosphatemic rickets, Coxa vara,... |
ORPHA:289176 |
48,Xxyy Syndrome |
|
Taurodontia, Clinodactyly of the 5th finger, Cleft palate, Open bite, Delayed eruption of teeth, ... |
ORPHA:10 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Failure to thrive, Micrognathia, Osteopenia, Deep philtrum, Con... |
ORPHA:329178 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Dental malocclusion, Dislocated radial head, Narrow palate, Talipes equinovarus, Gen... |
OMIM:182212 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna... |
OMIM:265800 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eruption of teeth, Small ... |
OMIM:184260 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Flexion contracture, Narrow foramen obturatorium, Xerostomia, Arthritis, Carious t... |
ORPHA:220393 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Failure to thrive, Wide anterior fontanel, Small for gestational age, Micrognathia, ... |
OMIM:614541 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Brachydactyly, Rhizom... |
ORPHA:2645 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... |
ORPHA:49042 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteolysis, Generalized osteoporosis, Malar flattening |
OMIM:176670 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Anemia, Osteoporosis, Abnormal B cell count, Osteolysis, Weight loss |
ORPHA:100024 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Mandibular prognathia, Dental malocclusion, Arthrogryposis multiplex congenita |
OMIM:608931 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Joint stiffness, Limitation of joint mobility, Chondrocalcinosis, Abnormality of ... |
ORPHA:66627 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... |
OMIM:147060 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia |
OMIM:618292 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Failure to thrive, Narrow mouth, Wide anterior fontanel, Malar flattening, Congenita... |
OMIM:219200 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, D... |
OMIM:601812 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Wi... |
OMIM:619719 |
Cohen Syndrome |
|
Neutropenia, Macrodontia of permanent maxillary central incisor, High, narrow palate, Joint hyper... |
OMIM:216550 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Malar flattening, Flexion contracture, Arachnodactyly, Femoral bowing, Co... |
OMIM:207410 |
Hamamy Syndrome |
|
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... |
OMIM:611174 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... |
ORPHA:63442 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... |
ORPHA:668 |
Infantile Myofibromatosis |
|
Bone cyst, Chondrocalcinosis, Tracheoesophageal fistula, Gingival fibromatosis, Intestinal obstru... |
ORPHA:2591 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... |
OMIM:210600 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Grant Syndrome |
|
Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibil... |
ORPHA:2097 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... |
OMIM:616331 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... |
OMIM:147891 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Narrow mouth, Aplasia/Hypoplasia of the clavicles, Abnormality of... |
ORPHA:90154 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion |
OMIM:155050 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Osteopen... |
ORPHA:251028 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Abnormality of the tongue, Wide anterior fontanel, Malabsorption,... |
ORPHA:912 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... |
ORPHA:1327 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... |
OMIM:201170 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Short distal phalanx of finger, Flexion contracture, Aplasia/Hypoplasia of the clavi... |
ORPHA:90153 |
Filippi Syndrome |
|
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... |
OMIM:272440 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Auriculocondylar Syndrome 1 |
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Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Paget Disease Of Bone 2, Early-Onset |
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Premature loss of teeth, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the l... |
OMIM:602080 |
Ackerman Syndrome |
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Broad philtrum, Taurodontia |
OMIM:200970 |
Felty Syndrome |
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Sinusitis, Limitation of joint mobility, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Ar... |
ORPHA:47612 |
Intellectual Developmental Disorder, X-Linked 58 |
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Dental malocclusion, Short philtrum |
OMIM:300210 |
Tooth Agenesis, Selective, 7 |
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Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Hemifacial Atrophy, Progressive |
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Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxat... |
OMIM:259600 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Intellectual Disability, Birk-Barel Type |
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High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... |
ORPHA:166108 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Dubowitz Syndrome |
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High palate, Wide mouth, Craniosynostosis, Abnormality of the dentition, Delayed eruption of teet... |
ORPHA:235 |
Cleidocranial Dysplasia |
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Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Atelosteogenesis Type I |
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Malrotation of colon, Talipes equinovarus, Joint dislocation, Cleft palate, Short femur, Abnormal... |
ORPHA:1190 |
Temtamy Preaxial Brachydactyly Syndrome |
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Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... |
ORPHA:1858 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Anal atresia, Wide anterior fontanel, Short ribs, Cleft palate, Narrow greater sciatic notch, Pos... |
OMIM:617925 |
Weismann-Netter Syndrome |
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Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... |
OMIM:112350 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Sparse bone trabeculae,... |
OMIM:600081 |
Campomelic Dysplasia |
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High palate, Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Short 1st metacarp... |
OMIM:114290 |
Dysosteosclerosis |
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High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Delayed cl... |
OMIM:224300 |
Fibrochondrogenesis 1 |
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Cleft palate, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent coronal sutur... |
OMIM:228520 |
Hypophosphatasia, Childhood |
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Bowing of the legs, Premature loss of primary teeth, Craniosynostosis, Carious teeth |
OMIM:241510 |
Hajdu-Cheney Syndrome |
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High palate, Dental malocclusion, Premature loss of teeth, Dislocated radial head, Crowded carpal... |
OMIM:102500 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Agenesis of molar, Supernumerary tooth, Osteopenia, Diastema, Microdontia, Osteoporosis, Bicorona... |
OMIM:619718 |
Eiken Syndrome |
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Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... |
OMIM:600002 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Short distal phalanx of finger, Dental malocclusion, Multiple joint contractures, Hypodontia, Fra... |
ORPHA:2959 |
Bartsocas-Papas Syndrome 2 |
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Accessory oral frenulum, Wide anterior fontanel, 2-5 finger cutaneous syndactyly, Small hand, Mic... |
OMIM:619339 |
Rosaï-Dorfman Disease |
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Anemia, Osteolysis |
ORPHA:158014 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
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Oligodontia, Taurodontia |
OMIM:272980 |
Amelogenesis Imperfecta, Type Iiia |
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Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Dislocated ... |
OMIM:101800 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Meier-Gorlin Syndrome 7 |
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High palate, Bowing of the legs, Narrow mouth, 2-3 toe syndactyly, Wide anterior fontanel, Decrea... |
OMIM:617063 |
Rothmund-Thomson Syndrome |
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Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Microdontia... |
ORPHA:2909 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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High palate, Premature loss of teeth, Narrow mouth, Short clavicles, Flexion contracture, Microgn... |
OMIM:608612 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... |
OMIM:257850 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation |
OMIM:211900 |
Wrinkly Skin Syndrome |
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High palate, Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Microdontia, Cari... |
OMIM:278250 |
Cole-Carpenter Syndrome 2 |
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High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... |
OMIM:616294 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Hypoplastic verteb... |
OMIM:263540 |
Ollier Disease |
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Joint stiffness, Micromelia, Osteolysis, Abnormal metaphysis morphology, Anemia |
ORPHA:296 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, 2-... |
OMIM:269500 |
Rothmund-Thomson Syndrome Type 2 |
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High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Aplas... |
ORPHA:221016 |
Oculodentodigital Dysplasia |
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Cleft upper lip, Premature loss of teeth, 3-4 toe syndactyly, Taurodontia, Cleft palate, Microdon... |
OMIM:164200 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... |
ORPHA:2780 |
Mcdonough Syndrome |
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Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog... |
ORPHA:2471 |
Cerebrooculofacioskeletal Syndrome 1 |
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Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
Osteopathia Striata With Cranial Sclerosis |
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High palate, Cleft palate, Delayed closure of the anterior fontanelle, Thick lower lip vermilion,... |
OMIM:300373 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Periostitis, Joint swelling, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Stom... |
OMIM:612852 |
Apert Syndrome |
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Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm s... |
OMIM:101200 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Osteogenesis Imperfecta, Type Iv |
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Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Femoral bowing present at birth, st... |
OMIM:166220 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, S... |
ORPHA:93324 |
Femoral-Facial Syndrome |
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Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Os... |
OMIM:266920 |
48,Xxxy Syndrome |
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Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Open bite, Down-s... |
ORPHA:96263 |
Mental Retardation, Buenos Aires Type |
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High palate, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, Failure to thrive, ... |
OMIM:249630 |
Flynn-Aird Syndrome |
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Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... |
OMIM:136300 |
Hajdu-Cheney Syndrome |
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Cleft palate, Abnormality of the dentition, Osteopenia, Osteolysis, Bowing of the long bones, Pat... |
ORPHA:955 |
Oculodentodigital Dysplasia |
|
Cleft palate, Carious teeth, Abnormal metaphysis morphology, Mandibular prognathia, Abnormal cort... |
ORPHA:2710 |
Chime Syndrome |
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Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, A... |
ORPHA:3474 |
Robinow Syndrome, Autosomal Recessive 1 |
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Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Duplication of the di... |
OMIM:268310 |
Papillon-Lefèvre Syndrome |
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Periodontitis, Tooth agenesis, Arachnodactyly, Abnormality of the dentition, Premature loss of pr... |
ORPHA:678 |
Lissencephaly, X-Linked, 2 |
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High palate, Wide anterior fontanel, Long upper lip, Micrognathia, Long philtrum, Thin upper lip ... |
OMIM:300215 |
Osteogenesis Imperfecta, Type Vii |
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Coxa vara, Bowing of the legs, Wide anterior fontanel, Recurrent fractures, Femoral retroversion,... |
OMIM:610682 |
Pseudohypoparathyroidism, Type Ia |
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Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short finge... |
OMIM:103580 |
Dysosteosclerosis |
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Abnormal dental enamel morphology, Recurrent fractures, Hypoplastic vertebral bodies, Increased b... |
ORPHA:1782 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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High palate, Premature loss of teeth, Short distal phalanx of finger, Short clavicles, Joint stif... |
OMIM:248370 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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High palate, Failure to thrive, Ulnar deviation of the hand, Wide anterior fontanel, Talipes equi... |
OMIM:214100 |
Marden-Walker Syndrome |
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High palate, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, High, narrow palate, Clef... |
OMIM:248700 |
Osteopetrosis, Autosomal Recessive 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... |
OMIM:259710 |
3Mc Syndrome 1 |
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Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... |
OMIM:257920 |
Gamma-Heavy Chain Disease |
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Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Abnormal pal... |
ORPHA:100026 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... |
OMIM:601957 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
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High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... |
OMIM:264475 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth, Cutaneous finger syn... |
OMIM:203550 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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High palate, Failure to thrive, Flexion contracture, Micrognathia, Osteopenia, Short humerus, Rhi... |
OMIM:222765 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Rothmund-Thomson Syndrome Type 1 |
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Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruptio... |
ORPHA:221008 |
Localized Scleroderma |
|
Dental malocclusion, Abnormal facial skeleton morphology, Flexion contracture, Abnormality of the... |
ORPHA:90289 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Wide mouth, Wide anterior fontanel, Deep plantar creases, Long ph... |
OMIM:616638 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Gingival overgrowth, Short clavicles, Bowing of the legs, Coron... |
ORPHA:313855 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, Protrusio acetabu... |
OMIM:610968 |
Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Micrognathia, Pes cavus, Joint contracture of the 5th finger, P... |
OMIM:617258 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatospl... |
OMIM:259730 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Hallux valgus |
OMIM:615541 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt... |
OMIM:612731 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... |
OMIM:200990 |
20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Decreased body weight, Finger syndactyly, Brachydactyly, Polydactyly, Ten... |
ORPHA:313781 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Talipes equinovarus, Retrognathia, Gingival overgrowt... |
OMIM:235510 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Short metatar... |
OMIM:612462 |
Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... |
OMIM:119600 |
49,Xxxxy Syndrome |
|
Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Open bite, Down-s... |
ORPHA:96264 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... |
OMIM:265000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... |
OMIM:241530 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joi... |
ORPHA:53 |
Acrootoocular Syndrome |
|
Anodontia, Dental malocclusion, Short toe, Supernumerary tooth, High, narrow palate, Abnormal fin... |
ORPHA:2980 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... |
ORPHA:75508 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... |
OMIM:218400 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... |
ORPHA:56304 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... |
OMIM:251190 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, ... |
ORPHA:2863 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... |
ORPHA:1798 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Plantar hyperkeratosis, Carious teeth... |
OMIM:226650 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Abnor... |
ORPHA:371428 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Short 1st metacarpal, Natal tooth, ... |
OMIM:201050 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Wide mouth, Clinodactyly of the 5th finger, ... |
OMIM:619293 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Wormian bones, Joint hyperflexibility |
ORPHA:2787 |
Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Wormian... |
OMIM:166200 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Macrodontia, Cl... |
OMIM:617883 |
Aggressive Systemic Mastocytosis |
|
Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Anemia, Hepatosplenomega... |
ORPHA:98850 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, Pathologic ... |
ORPHA:77259 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... |
ORPHA:166272 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Short distal phalanx of finger, Long hallux, Malar ... |
ORPHA:420561 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Narrow mouth, Short clavicles, Wide anterior fontanel, Cleft palate, M... |
OMIM:617746 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... |
OMIM:619269 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Short clavicles, Hypodontia, Reduced bone mineral density, Microg... |
OMIM:619322 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets |
ORPHA:89937 |
Hallermann-Streiff Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... |
OMIM:234100 |
Gapo Syndrome |
|
Eruption failure, Wide anterior fontanel, High, narrow palate, Abnormality of the dentition, Micr... |
OMIM:230740 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Splenomegal... |
ORPHA:3473 |
Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemo... |
OMIM:263700 |
Schwartz-Jampel Syndrome |
|
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Genu valgum, A... |
ORPHA:800 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa vara, Joint stiffness, Coxa valga, Joint dislocation, Hiatus hernia, Retrognathia, Micrognat... |
ORPHA:1901 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Joint stiffness, Taurodontia, Clinodactyly of the 5th finger, Cleft palate, Micr... |
ORPHA:819 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... |
ORPHA:950 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Clinodactyly of the 5th finger, Wide cranial sutures, Open mouth, Thin upper... |
OMIM:619149 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Congenital hip dislocation, Wormian bones, Delayed erupt... |
OMIM:614450 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... |
ORPHA:50814 |
Potocki-Lupski Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Small for gestational age, Micro... |
OMIM:610883 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Micrognathia, Brachydactyly, Diastema |
ORPHA:436245 |
Incontinentia Pigmenti |
|
Absent hand, Hypodontia, Finger syndactyly, Camptodactyly of finger, Eosinophilia, Delayed erupti... |
ORPHA:464 |
Short Syndrome |
|
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Delayed eruption of tee... |
OMIM:269880 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Brachyd... |
OMIM:619184 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
Desmoid Tumor |
|
Malabsorption, Intestinal obstruction, Osteolysis, Intestinal polyposis, Limitation of joint mobi... |
ORPHA:873 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Cleft palate, Tracheomalacia, Micrognathia, Brachydactyly, Syndactyly, Do... |
OMIM:217980 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Failure to thrive, Arachnodactyly, Abnormal shoul... |
ORPHA:2115 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Lymphopenia, Hypodontia, Small for gestational age, Anemia, Shallow acetabular... |
ORPHA:1830 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion, Flexion contracture, Arachnodactyly, Pyloric stenosis, Slender toe |
OMIM:310400 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the dentition, Osteomalacia, Abnormality of the lower li... |
OMIM:193100 |
Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Triangular mouth, Duplication of the distal phalanx of hand, Delayed eruption of tee... |
OMIM:180700 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Wide mouth, Multiple joint contractures, Cleft palate, Prominent fingertip pads,... |
OMIM:305450 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Micrognathia, Osteo... |
ORPHA:73272 |
Mcdonough Syndrome |
|
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Clinodactyly, Radial deviatio... |
OMIM:248950 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Cleft palate, Craniosynostosis, Flared iliac wing, Micrognathia, ... |
ORPHA:949 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Long philtrum... |
ORPHA:357058 |
48,Xyyy Syndrome |
|
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Radioulnar synostos... |
ORPHA:99329 |
Classic Hodgkin Lymphoma |
|
Weight loss, Osteolysis, Splenomegaly |
ORPHA:391 |
Alg9-Cdg |
|
Wide mouth, Ulnar deviation of the hand, Abnormal bone ossification, Microretrognathia, Talipes e... |
ORPHA:79328 |
Dyskeratosis Congenita |
|
Recurrent fractures, Periodontitis, Taurodontia, Malabsorption, Hypodontia, Splenomegaly, Anemia,... |
ORPHA:1775 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft l... |
OMIM:618761 |
Alpha-Mannosidosis, Infantile Form |
|
Joint stiffness, Cortical thickening of long bone diaphyses, Macroglossia, Craniosynostosis, Bila... |
ORPHA:309282 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Splenomegaly, Cachexi... |
ORPHA:1133 |
Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... |
ORPHA:440354 |
Sapho Syndrome |
|
Recurrent fractures, Malabsorption, Osteomyelitis, Steatorrhea, Inflammation of the large intesti... |
ORPHA:793 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Anemia, Slender long bone, Carious teeth, Short foot, Delayed closure of the anterior... |
OMIM:244460 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... |
OMIM:157980 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Wide anterior fontanel, Hiatus hernia, Splenomegaly, Osteopenia, Long philtrum, Sagittal craniosy... |
OMIM:610199 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... |
ORPHA:2741 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del... |
OMIM:612921 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Hyperextensibility of the finger joints, Congenital hip dislocat... |
OMIM:619797 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Pathologic fracture, Abnormal long bone morphology, Osteolysis, Increased... |
ORPHA:52430 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Camptodactyly of finger... |
OMIM:616920 |
Tetrasomy 5P |
|
High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ... |
ORPHA:3309 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Metaphyseal dysplasia, Hypodontia, Reduced bone mineral density, Micrognathia,... |
OMIM:617052 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... |
OMIM:201000 |
Chromomycosis |
|
Abnormal oral cavity morphology, Ankylosis, Osteolysis, Abnormal foot morphology, Abnormality of ... |
ORPHA:182 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Open bite, Reduced bone mineral density, Micrognathia, Carious teeth, Congenital pyloric atresia,... |
ORPHA:2617 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Short 1st metacarpal, Short philtrum, Delayed eruption of teeth, Radioul... |
ORPHA:798 |
Achondroplasia |
|
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... |
ORPHA:15 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Abnormality of femur morphology, Monostotic fibrous dysplasia, Fibrous dyspl... |
ORPHA:562 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Long philtru... |
OMIM:617877 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Decreased body weight, Increased bone mineral density, Thin vermilion bor... |
OMIM:614856 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Os... |
OMIM:259700 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Genu recurvatum... |
ORPHA:364028 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Clinodactyly of the 5th finger, Small for gestational age, Premature posterior fonta... |
OMIM:314320 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Multinucleated giant ... |
OMIM:108720 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Abnormality of the dentition,... |
ORPHA:2314 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short philtru... |
ORPHA:96334 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Abnormality of the dentition, Osteopenia, Femoral bowing, Microm... |
ORPHA:666 |
Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Malar flattening, Generalized joint laxity, Micrognathia, Osteopenia, ... |
OMIM:613848 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Small for gestational age, Premature posterior fontanelle closure, Metopic suture pa... |
ORPHA:3369 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... |
OMIM:603463 |
Laron Syndrome |
|
Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... |
ORPHA:633 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Narrow mouth, Temporomandibular joint ankylosis, Short clavicles, Wide an... |
OMIM:275210 |
Nail-Patella Syndrome |
|
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... |
ORPHA:2614 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... |
OMIM:311300 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... |
OMIM:251450 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Macroglossia |
OMIM:275100 |
Craniosynostosis And Dental Anomalies |
|
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, 2-3 toe syndactyly, Coronal... |
OMIM:614188 |
Kniest-Like Dysplasia, Lethal |
|
Metaphyseal irregularity, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Hypoplastic ... |
OMIM:245190 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the long bones, Mandibular pr... |
OMIM:166250 |
Infantile Systemic Hyalinosis |
|
Failure to thrive, Gingival overgrowth, Joint stiffness, Recurrent fractures, Malabsorption, Stea... |
ORPHA:2176 |
Oliver Syndrome |
|
High palate, Dental malocclusion, Short toe, Clinodactyly of the 5th finger, Prominent fingertip ... |
ORPHA:2920 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Clinodactyly of the 5th finger, Tooth malposition, Malar flattening, Failure... |
ORPHA:2769 |
Kabuki Syndrome 2 |
|
High palate, Dental malocclusion, Decreased body weight, Hypodontia, Cleft palate, Prominent fing... |
OMIM:300867 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Abnormality of limb bone morphology, Downturned corners of mouth, Smooth philt... |
ORPHA:251009 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Downturned corners of mouth, Rhizomelia, Abnormal epiphysis morphol... |
ORPHA:93267 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Large... |
ORPHA:181393 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Abnormality of the dentition, Micrognathia, Femoral bowing, Wormian bones, T... |
OMIM:617952 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Open bite, H... |
OMIM:115150 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... |
ORPHA:94089 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Prominent fingertip pads, Broad hallux, Hypoplasia of the maxilla, Dup... |
OMIM:180849 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Tooth agenesis, Microretrognathia, Small for gestational age, Osteopenia, De... |
OMIM:616229 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Transaldolase Deficiency |
|
Wide mouth, Wide anterior fontanel, Failure to thrive, Small for gestational age, Thin vermilion ... |
OMIM:606003 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Micromeli... |
ORPHA:1860 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Acrofrontofacionasal Dysostosis 2 |
|
High palate, Wide anterior fontanel, Syndactyly, Broad hallux, Broad thumb, Hand polydactyly |
OMIM:239710 |
Pachydermoperiostosis |
|
Joint swelling, Malabsorption, Osteomyelitis, Splenomegaly, Small hand, Anemia, Osteoporosis, Gen... |
ORPHA:2796 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Clinodactyly of the 5th finger, Genu recurvatum, Cleft palate, Everted lower lip... |
ORPHA:915 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Craniosynostosis, Osteopenia, Sagittal craniosynostosis, Open mouth, Intestinal pse... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Craniosynostosis, Osteopenia, Sagittal craniosynostosis, Open mouth, Intestinal pse... |
ORPHA:352665 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
High palate, Wide anterior fontanel, Thin upper lip vermilion, Long philtrum |
OMIM:613623 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Distal Monosomy 12Q |
|
Long foot, Broad hallux, Pyloric stenosis, Failure to thrive in infancy, Clinodactyly of the 5th ... |
ORPHA:96149 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Femoral bowing, Osteoporosis, Carious teeth |
OMIM:126550 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Long hallux, Increased bone mineral d... |
OMIM:259775 |
Fibrochondrogenesis |
|
Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Micromel... |
ORPHA:2021 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Anemia of inadequate production, Calvarial hyperostosis, Steatorrhea, Osteopen... |
OMIM:612714 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Overlapping toe, Anal atresia, Velopharyngeal ins... |
ORPHA:363444 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... |
OMIM:211350 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Small for gestational age, Hypoplasia of the thymus, Decreased proportion... |
OMIM:617241 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Notched primary central incisor, Adducted thumb |
OMIM:620062 |
Neonatal Adrenoleukodystrophy |
|
Abnormal palate morphology, Wide anterior fontanel |
ORPHA:44 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... |
ORPHA:73223 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Dental malocclusion, Overlapping toe, Cleft palate, Overlapping fingers, Long philtr... |
OMIM:618975 |
Six2-Related Frontonasal Dysplasia |
|
Wide anterior fontanel, Small for gestational age, Absent/hypoplastic paranasal sinuses, Prematur... |
ORPHA:488437 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... |
ORPHA:2325 |
H Syndrome |
|
Cleft upper lip, Recurrent fractures, Gingival overgrowth, Malabsorption, Histiocytosis, Hepatosp... |
ORPHA:168569 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Hypoplastic vertebral bodies, Abnormality of the dentition, Palmoplantar cut... |
OMIM:114620 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... |
OMIM:300554 |
Peters-Plus Syndrome |
|
Cleft palate, Craniosynostosis, Square pelvis bone, Rhizomelia, Hypoplasia of the maxilla, Anteri... |
OMIM:261540 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Oligodontia, Cranial hyperostosis, Hypodontia, Natal tooth |
OMIM:601345 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... |
OMIM:616202 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... |
ORPHA:93307 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Neu... |
ORPHA:2643 |
Spondyloenchondrodysplasia |
|
Short distal phalanx of finger, Dental malocclusion, Metaphyseal dysplasia, Bowing of the legs, J... |
ORPHA:1855 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Bro... |
OMIM:300990 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... |
ORPHA:1328 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Twelfth rib hypoplasia, Absent frontal sinuses, Abnormality of dental eruption, Hall... |
OMIM:211910 |
Hepatoerythropoietic Porphyria |
|
Erythrodontia, Splenomegaly, Osteopenia, Osteoporosis, Hemolytic anemia, Osteolysis, Erythroid hy... |
ORPHA:95159 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Cleft palate, Short ri... |
ORPHA:2347 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, La... |
ORPHA:436 |
Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Hypodontia, Thin vermilion border, Abnormality... |
ORPHA:289 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis |
ORPHA:2026 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Oligodon... |
OMIM:618727 |
Cri-Du-Chat Syndrome |
|
High palate, Microretrognathia, Small for gestational age, Short philtrum, Anterior open-bite mal... |
OMIM:123450 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Genu varum, Carious teeth, Genu valgum, Hypoplasia of teeth, Coxa valga |
OMIM:613312 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormality of the dentition, Camptodactyly of finger, Large hands, Abnormal dental ... |
ORPHA:3220 |
Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... |
OMIM:302350 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... |
OMIM:616354 |
Flynn-Aird Syndrome |
|
Cachexia, Bone cyst, Joint stiffness, Carious teeth |
ORPHA:2047 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Joint contracture of the hand, Malar flattening, Micrognathia, Camptodactyly |
OMIM:608257 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture closure, Gingival fibroma... |
ORPHA:1832 |
Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, High, narrow palate, Tapered finger, Open mouth, Hypoplasia... |
ORPHA:3010 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Genu valgum, A... |
ORPHA:534 |
Mohr Syndrome |
|
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... |
OMIM:252100 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... |
ORPHA:85321 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
Scarf Syndrome |
|
Short sternum, Craniosynostosis, Long philtrum, Enamel hypoplasia, Hypocalcification of dental en... |
ORPHA:3134 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Joint dislocation, Reduced bone mineral density, Abnormality of the dentition, Grayis... |
ORPHA:582 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Malar flattening, Brachydactyly, Enamel hypoplasia, Sandal gap, Mandibular prognathia |
OMIM:600991 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Wormian bon... |
OMIM:601356 |
Pallister W Syndrome |
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Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... |
OMIM:311450 |
7Q11.23 Microduplication Syndrome |
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High palate, Dental malocclusion, Craniosynostosis, Retrognathia, Micrognathia, Short philtrum, T... |
ORPHA:96121 |
Amelogenesis Imperfecta, Type Iiic |
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Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Oculofaciocardiodental Syndrome |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Flexion cont... |
ORPHA:2712 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Enamel hypoplasia, Palmoplantar keratoderma, Anemia, Oral mucosal blisters |
ORPHA:79402 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Overlapping toe, Malar flattening, Craniosynostosis, Osteopenia, Femoral bowing, Short femoral ne... |
OMIM:616723 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... |
OMIM:612447 |
Ctcf-Related Neurodevelopmental Disorder |
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Failure to thrive, Narrow mouth, Clinodactyly of the 5th finger, Macrodontia of permanent maxilla... |
ORPHA:363611 |
Hall-Riggs Syndrome |
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Wide mouth, Failure to thrive, Joint stiffness, Brachydactyly, Delayed eruption of teeth, Downtur... |
ORPHA:2107 |
Pilodental Dysplasia With Refractive Errors |
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Conical incisor, Hypodontia |
OMIM:262020 |
Mucopolysaccharidosis, Type Ivb |
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Wide mouth, Pointed proximal second through fifth metacarpals, Constricted iliac wing, Metaphysea... |
OMIM:253010 |
Braddock-Carey Syndrome 1 |
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U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
Melnick-Needles Syndrome |
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Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... |
OMIM:309350 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Blomstrand Lethal Chondrodysplasia |
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Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... |
ORPHA:50945 |
Chst3-Related Skeletal Dysplasia |
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Enlarged joints, Flexion contracture, Long philtrum, Delayed eruption of teeth, Irregular epiphys... |
ORPHA:263463 |
Beaulieu-Boycott-Innes Syndrome |
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Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Carious teeth |
OMIM:613680 |
Auriculocondylar Syndrome |
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Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Bifid uvula, Hamarto... |
ORPHA:137888 |
Craniosynostosis 2 |
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Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... |
OMIM:604757 |
Congenital Erythropoietic Porphyria |
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Erythrodontia, Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia... |
ORPHA:79277 |
Coffin-Siris Syndrome 10 |
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Wide mouth, Persistence of primary teeth, Clinodactyly |
OMIM:618506 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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High palate, Wide anterior fontanel, Contracture of the proximal interphalangeal joint of the 4th... |
ORPHA:457279 |
Takenouchi-Kosaki Syndrome |
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Dental malocclusion, Wide mouth, Overlapping toe, Short philtrum, Long philtrum, Tapered finger, ... |
OMIM:616737 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... |
OMIM:210720 |
Cerebellar-Facial-Dental Syndrome |
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Alveolar ridge overgrowth, Dental malocclusion, Failure to thrive, Taurodontia, Macrodontia of pe... |
ORPHA:444072 |
Mixed Connective Tissue Disease |
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Joint swelling, Joint stiffness, Gastritis, Splenomegaly, Leukopenia, Xerostomia, Arthritis, Hemo... |
ORPHA:809 |
Junctional Epidermolysis Bullosa Inversa |
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Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79405 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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High palate, Wide mouth, Dental malocclusion, Narrow palate, Clinodactyly of the 5th finger, Down... |
OMIM:227330 |
Teebi Hypertelorism Syndrome 1 |
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Coronal craniosynostosis, Micrognathia, Small hand, Long philtrum, Sagittal craniosynostosis, Nat... |
OMIM:145420 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Aplastic anemia, Microdontia, Osteoporosis, Carious teeth, Esophageal stricture, Pterygium, Throm... |
OMIM:224230 |
Antley-Bixler Syndrome |
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Joint stiffness, Narrow mouth, Recurrent fractures, Elbow ankylosis, Cleft palate, Craniosynostos... |
ORPHA:83 |
Cutis Laxa, Autosomal Recessive, Type Iib |
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High palate, Failure to thrive, Joint hypermobility, Malar flattening, Osteopenia, Congenital hip... |
OMIM:612940 |
Fontaine Progeroid Syndrome |
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Craniosynostosis, Microdontia, Anteriorly placed anus, Mandibular prognathia, Short distal phalan... |
OMIM:612289 |
Ivic Syndrome |
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Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Coffin-Lowry Syndrome |
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High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Advanced eruption of teeth, Tap... |
ORPHA:192 |
Cockayne Syndrome B |
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Dental malocclusion, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Severe fail... |
OMIM:133540 |
Harrod Syndrome |
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High palate, Dental malocclusion, Narrow mouth, Failure to thrive, High, narrow palate, Arachnoda... |
OMIM:601095 |
Brachydactyly, Type E2 |
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Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal |
OMIM:613382 |
Geroderma Osteodysplasticum |
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Recurrent fractures, Periodontitis, Tibial bowing, Malar flattening, Hyperextensibility of the fi... |
OMIM:231070 |
Mpdu1-Cdg |
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Thin vermilion border, Wide anterior fontanel, Prominent frontal sinuses |
ORPHA:79323 |
Tetrasomy 12P |
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Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... |
ORPHA:884 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... |
OMIM:618342 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
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Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
Congenital Disorder Of Glycosylation, Type Ig |
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Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short... |
OMIM:607143 |
Cole-Carpenter Syndrome |
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Recurrent fractures, Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Wormian bon... |
ORPHA:2050 |
Shwachman-Diamond Syndrome |
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Steatorrhea, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Carious teeth, Macrocytic an... |
ORPHA:811 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Elbow dislocation, Absent knee epiphyses... |
OMIM:210710 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
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Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
Kohlschutter-Tonz Syndrome |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Celiac Disease, Susceptibility To, 1 |
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Failure to thrive, Steatorrhea, Osteoporosis, Macrocytic anemia, Enamel hypoplasia, Stomatitis, I... |
OMIM:212750 |
Encephalocraniocutaneous Lipomatosis |
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Osteochondrosis, Bone cyst, Osteolysis, Craniofacial hyperostosis |
ORPHA:2396 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... |
ORPHA:536467 |
Hypophosphatemic Rickets |
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Failure to thrive, Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Abn... |
ORPHA:437 |
Dent Disease 1 |
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Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Sparse bone trabeculae,... |
OMIM:300009 |
Sponastrime Dysplasia |
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Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip subluxation, Small epiphy... |
ORPHA:93357 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Persistence of primary teeth, Stenosis of the medulla... |
ORPHA:93325 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Hypermobile Ehlers-Danlos Syndrome |
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Gingival overgrowth, Malabsorption, Joint dislocation, Abnormality of the dentition, Osteoarthrit... |
ORPHA:285 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
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