Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow |
ORPHA:2222 |
Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
Tooth Agenesis, Selective, 9 |
|
Taurodontia, Microdontia, Selective tooth agenesis |
OMIM:617275 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
Cleidocranial Dysplasia 2 |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... |
OMIM:620099 |
Dentinogenesis Imperfecta |
|
Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho... |
ORPHA:49042 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Synophrys, Downslanted palpebral fissures, Abnormality of dental morphology, Gingiva... |
ORPHA:2025 |
Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... |
ORPHA:2972 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... |
OMIM:204650 |
Cleidorhizomelic Syndrome |
|
Short middle phalanx of the 5th finger, Rhizomelia, Abnormal clavicle morphology, Clinodactyly of... |
OMIM:119650 |
Telecanthus |
|
Bilateral cleft lip and palate, Anodontia, Telecanthus |
OMIM:187350 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Delayed eruption o... |
ORPHA:2026 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Cone-shaped e... |
ORPHA:71267 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Abnormal mandible morphology, Natal tooth, Cleft palate |
OMIM:217150 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
Odontochondrodysplasia |
|
Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Coxa valga, Delayed eruption of... |
ORPHA:166272 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Microgn... |
ORPHA:3104 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... |
ORPHA:166277 |
Cleidocranial Dysplasia |
|
Dystrophic toenail, Cleft palate, Supernumerary tooth, Carious teeth, Decreased skull ossificatio... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type V |
|
Limited pronation/supination of forearm, Hyperextensibility at elbow, Osteopenia, Anterior radial... |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xxii |
|
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... |
OMIM:619795 |
Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... |
ORPHA:1837 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, High palate, Malar flattening, Osteoporosis, Bowing of the arm, Narrow ... |
OMIM:613849 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Inguinal hernia, Tooth agenesis, Flattened epiphysis, Mandibular prognathia, Ameloge... |
OMIM:618363 |
Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Multiple impacted teet... |
OMIM:113300 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Palmar hyperhidrosis, Enamel hypoplasia, Oral mucosal blisters, Hypodont... |
OMIM:226650 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... |
ORPHA:63442 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Pyle Disease |
|
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... |
OMIM:265900 |
Osteogenesis Imperfecta, Type Xix |
|
Multiple prenatal fractures, Osteopenia, Recurrent fractures, Joint hypermobility, Bowing of the ... |
OMIM:301014 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Finger syndactyly, Hypoplastic scapulae, Toe syn... |
ORPHA:1512 |
Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Horner syn... |
OMIM:141300 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... |
ORPHA:2779 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Persisten... |
OMIM:265800 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis |
OMIM:125440 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal chondrodysplasia, Abnormality of the dentition, Short lower limbs, Abnormal metaphysi... |
ORPHA:2501 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Micrognathia, Blepharophi... |
ORPHA:2016 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Hip dislocation, Short middle phalanx of the 5th finger, Carious teeth, Flexion contracture, Cuta... |
OMIM:203550 |
Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Joint stiffness, Bowing of the long bones, Abnormal epiphysis mor... |
ORPHA:1040 |
Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Malar flattening, Short clavicles, Bell-shaped thorax, Decreased calvar... |
OMIM:614592 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... |
ORPHA:79106 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal metaphysis m... |
ORPHA:2484 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... |
ORPHA:2228 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate |
OMIM:600331 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
OMIM:609698 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... |
ORPHA:1802 |
Hall-Riggs Mental Retardation Syndrome |
|
Osteoporosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, M... |
OMIM:234250 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Odontochondrodysplasia 1 |
|
Genu varum, Metaphyseal cupping, Small epiphyses, Metaphyseal widening, Flat acetabular roof, Del... |
OMIM:184260 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Primary Condylar Hyperplasia |
|
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... |
ORPHA:477781 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... |
OMIM:620198 |
Cranioectodermal Dysplasia |
|
Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys... |
ORPHA:1515 |
Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Malar flattening, Micrognathia, Cleft soft palate |
OMIM:613857 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Short lower limbs, Multiple prenatal fractures, Bowing of limbs due to multiple frac... |
OMIM:259440 |
X-Linked Hypophosphatemia |
|
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... |
ORPHA:89936 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel hypomineralization, Micr... |
ORPHA:3352 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification |
OMIM:125420 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption of teeth, B... |
OMIM:612463 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Micrognathia, Cleft palate |
OMIM:261800 |
Catifa Syndrome |
|
Epicanthus, Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of teeth,... |
OMIM:618761 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Abnormal diaphysis morphology, Wide anterior fontanel, Coxa valga... |
ORPHA:85184 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal epiphysis morphology, Abnormal rib morphology, Downturned corners of ... |
ORPHA:2643 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormality of cranial sutures, Thoracic kyphosis, Flattened epip... |
ORPHA:163649 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the humerus, Abnormality of the dentition, Abnormal palate morphology, Hand polyda... |
ORPHA:1350 |
Acrorenal Syndrome |
|
Cleft palate, Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Split h... |
ORPHA:971 |
Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Type B b... |
OMIM:113000 |
Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
Osteogenesis Imperfecta, Type Iii |
|
Severe generalized osteoporosis, Wide anterior fontanel, Thin ribs, Multiple prenatal fractures, ... |
OMIM:259420 |
Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short thorax, Metaphyseal cupping, Short ribs, Rhizomelia, Short ... |
ORPHA:50945 |
Medial Condensing Osteitis Of The Clavicle |
|
Patchy reduction of bone mineral density, Limited shoulder movement, Abnormal clavicle morphology |
ORPHA:57196 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate, Upslanted palpebral fissure, Telecanthus |
ORPHA:1241 |
Fgfr2-Related Bent Bone Dysplasia |
|
Coronal craniosynostosis, Metopic depression, Steep acetabular roof, Abnormal periosteum morpholo... |
ORPHA:313855 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Dislocated radial head, Enamel hypoplasia, Long philtrum, ... |
ORPHA:99329 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Cleidocranial Dysplasia 1 |
|
Hip dislocation, Supernumerary tooth, Increased susceptibility to fractures, Cone-shaped epiphyse... |
OMIM:119600 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate |
ORPHA:718 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... |
ORPHA:363417 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Thin upper lip vermilion, Syndactyly, Enamel hypoplasia |
OMIM:613576 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Cenani-Lenz Syndactyly Syndrome |
|
Malar flattening, Syndactyly, Enamel hypoplasia, Premature loss of permanent teeth, Radioulnar sy... |
OMIM:212780 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Syndactyly, Enamel hypoplasia, Carious teeth |
OMIM:226700 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Ankyloblepharon, Cleft upper lip, Cleft palate |
OMIM:106250 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Widely patent fontanelles and sutures, Short clavicles |
OMIM:168550 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Abnormal clav... |
ORPHA:1453 |
Desbuquois Dysplasia 2 |
|
Hip dislocation, Bifid uvula, Advanced ossification of carpal bones, Cleft palate, Broad thumb, K... |
OMIM:615777 |
Familial Osteodysplasia, Anderson Type |
|
Elbow dislocation, Abnormal cortical bone morphology, Missing ribs, Mandibular prognathia, Bifid ... |
ORPHA:2769 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Sho... |
OMIM:605282 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Depressed nasal brid... |
ORPHA:3098 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Upper eyelid coloboma, Microdontia, Thick eyebrow, Everted lower lip vermilion, Clef... |
OMIM:619736 |
Fibrochondrogenesis 1 |
|
Long clavicles, Thin ribs, Broad long bones, Posterior rib cupping, Joint contracture of the hand... |
OMIM:228520 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the dentition, Finger syndactyly, Abnormality of the ... |
ORPHA:3268 |
Anauxetic Dysplasia 3 |
|
Pectus excavatum, Depressed nasal bridge, Retrognathia, Metaphyseal cupping, Wide anterior fontan... |
OMIM:618853 |
Langer Mesomelic Dysplasia |
|
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphol... |
ORPHA:2632 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morpholo... |
ORPHA:2325 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Retrognathia, Short first metatarsal, Talon cusp, Syndactyly, Broad thumb, Narrow pa... |
OMIM:613684 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Wide anterior fontanel, Coxa valga, Broad ribs, Broad long bones, Osteopenia, Mandibu... |
OMIM:269300 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Abnormality of the vertebral column, Metaphyseal striations, Short metacarpal, Abnorm... |
OMIM:250460 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Wide anterior fontanel, Thin ribs, Short metacarpal, Multiple prenatal fractures... |
OMIM:610915 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Abnormal cl... |
ORPHA:3416 |
Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Tapered finger, Prominent median palatal raphe, Joint laxi... |
OMIM:300602 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio |
OMIM:274700 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Abnormality of the dentition, Premature loss of primary teeth |
ORPHA:1811 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth, Abnormal eyebrow morphology |
ORPHA:1816 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Thyroid Dyshormonogenesis 2A |
|
Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen... |
OMIM:274500 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... |
OMIM:313500 |
Rhizomelic Syndrome |
|
Hip dislocation, Wide anterior fontanel, Complete duplication of thumb phalanx, Bifid distal phal... |
OMIM:268250 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion,... |
ORPHA:181 |
Shaheen Syndrome |
|
Palmoplantar hyperkeratosis, Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Momo Syndrome |
|
High palate, Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Taurodontia, Dental mal... |
OMIM:157980 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens... |
OMIM:188570 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Natal tooth |
ORPHA:99811 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... |
OMIM:615285 |
Van Maldergem Syndrome 1 |
|
Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodactyly, Irregu... |
OMIM:601390 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... |
OMIM:600785 |
Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Epicanthus, Downslanted palpebral fissures, Velopharyngeal insufficiency, Micrognathia |
OMIM:608363 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia, Hypoplastic scapulae, Short clavicles, Bowed humerus, Hypoplastic pelvis, Absent thumb |
OMIM:618022 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Reduced bone mineral density, Umbilical hernia, Osteoporosis, Dis... |
OMIM:614856 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Micrognathia, Cleft palate |
OMIM:311895 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Thin bony cortex, Bulging epiphyses, Bulging of the costochondral junction, Enamel hypop... |
OMIM:277440 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... |
OMIM:271530 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
Filippi Syndrome |
|
2-4 toe syndactyly, Serrated incisors, Abnormality of dental morphology, Microdontia, Finger clin... |
OMIM:272440 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
Tetrasomy X |
|
Abnormality of the dentition, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:9 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Premature loss of teeth, Acroosteolysis of distal phalanges (feet), High palate, Progressive clav... |
OMIM:608612 |
Achondrogenesis, Type Ia |
|
Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ... |
OMIM:200600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Bulging epiphyses, Bulging ... |
OMIM:264700 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Vertebral wedging, Advanced ossification of carpal bones, Monke... |
OMIM:617719 |
Hip Dysplasia, Beukes Type |
|
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Abnormal epiphysis morph... |
ORPHA:2114 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Thin ribs, Cleft palate, Narrow mouth, Joint contracture of the hand... |
OMIM:600920 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Overlapping toe, 11 pairs of ribs, Wide anterior fontanel, Short tibia, Micrognathi... |
OMIM:201170 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Ptosis |
OMIM:617732 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu... |
ORPHA:2790 |
Van Maldergem Syndrome 2 |
|
Hypoplastic nipples, High anterior hairline, Cutaneous finger syndactyly, Wide cranial sutures, I... |
OMIM:615546 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Cryptorchidism, Hypoplasia of the nasal bone, Hypogonadism, Elevated calcitonin, Diabetes mellitu... |
ORPHA:280651 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Osteoporosis, Wormian bones, Joint hyperflexibility, Brachydactyly |
ORPHA:2787 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Flat distal femoral epiphysis, Flared femoral metaphysis, Broad femoral neck, Platyspondyly, Shor... |
OMIM:609324 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Malar flattening, High palate, Upslanted palpebral fissure, Bifid uvula |
OMIM:300850 |
Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption |
OMIM:606893 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Abnormality of the philtrum, High palate, Anal atresia, Tooth agenesis, Long eyelashes, Downslant... |
ORPHA:2863 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Widely spaced teeth, Enamel hypoplasia, 2-4 finger syndactyly, 4-5 toe syndactyly,... |
OMIM:613573 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Abnormal size of the palpebral fissures, Taurodontia, High, narrow palate, Macrodontia, Delayed e... |
ORPHA:3214 |
Achondroplasia |
|
Abnormal iliac wing morphology, Hip joint hypermobility, Limited elbow extension, Thoracic hypopl... |
ORPHA:15 |
Xylt1-Cdg |
|
Synophrys, Broad ribs, Coxa valga, Joint dislocation, Short clavicles, Cleft palate, Broad thumb,... |
ORPHA:370930 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Delayed erupt... |
OMIM:619489 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Upslanted palpebral fissure, Everted lower lip ver... |
ORPHA:884 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Osteoporosis, Amelogenesis imperfecta, Joint laxity, Metaphyseal dysplasia, Dia... |
OMIM:614727 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Notched primary central incisor, Adducted thumb, Brachydactyly |
OMIM:620062 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Epiphyseal stippling, Wide nasal bridge |
OMIM:614859 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Bowing of the long bones, Large fontanelles, Wormian bones, Ab... |
ORPHA:2097 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Anal atresia, Bilateral cleft lip and palate, Distichiasis, Euryblepharon, Carious... |
ORPHA:1997 |
48,Xxyy Syndrome |
|
Epicanthus, Taurodontia, Upslanted palpebral fissure, Broad jaw, Cleft palate, Delayed eruption o... |
ORPHA:10 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Cleft palate |
ORPHA:2015 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb... |
ORPHA:1570 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Broad thumb, Short clavicles |
ORPHA:60015 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... |
OMIM:259710 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Metaphyseal widening, Ulnar deviation of the hand, Wide anterior fontanel, Underdev... |
OMIM:263210 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Down-sloping shoulders, Retrognathia, Recurrent shoulder dislocation, Short clavicles, Osteopenia... |
OMIM:212112 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Abnormal meta... |
ORPHA:2658 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Decreased circulating T4 concentration, Decreased thyroid-stimulating hor... |
OMIM:275100 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
High palate, Short 4th metacarpal, Joint dislocation, Short clavicles, Microretrognathia, Joint l... |
OMIM:606220 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft hard palate, Cleft palate, Micr... |
ORPHA:2521 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... |
OMIM:274300 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormality of the k... |
ORPHA:970 |
Seckel Syndrome 5 |
|
Oligodontia, High palate, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Enamel hypopl... |
OMIM:613823 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced bone mineral density, Eruption failure, Femur fracture, Wormian bones, Short clavicles, N... |
OMIM:619322 |
Tooth Agenesis, Selective, 3 |
|
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
Occipital Horn Syndrome |
|
Rickets, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brachydactyly, D... |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short distal phalanx of finger, Proximal femoral epiphysiolysis, Radial bowing, Short 1st metacar... |
OMIM:210720 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... |
OMIM:616507 |
Sponastrime Dysplasia |
|
Hip dislocation, Generalized joint laxity, Rhizomelia, Metaphyseal irregularity, Flattened humera... |
ORPHA:93357 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... |
OMIM:144750 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Scarring alopecia of scalp, A... |
ORPHA:79402 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Short thorax, Wide anterior fontanel, Micrognathia, Aplastic clavicle, ... |
ORPHA:85199 |
Pontocerebellar Hypoplasia, Type 1C |
|
Death in childhood, Respiratory insufficiency, Failure to thrive, Respiratory failure, Tongue fas... |
OMIM:616081 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tib... |
OMIM:112350 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Wide anterior fontanel, Decreased circulating T4 concentration, Decreased thyroid-stimula... |
ORPHA:95715 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Short... |
OMIM:169550 |
Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Delayed eruption of permanent teeth, Thick vermilion border, Exaggerated cupid's bow,... |
OMIM:618506 |
Pfeiffer-Palm-Teller Syndrome |
|
Joint stiffness, Enamel hypoplasia |
ORPHA:2871 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Ramon Syndrome |
|
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:3019 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Generalized joint laxity, Joint stiffness, Avascular necrosis of the capita... |
OMIM:132400 |
Seckel Syndrome 1 |
|
Hypoplasia of proximal fibula, Single transverse palmar crease, High palate, Hip dislocation, Sel... |
OMIM:210600 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Oligodontia, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, Short phalanx of finge... |
OMIM:170390 |
Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... |
OMIM:253250 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Sparse sc... |
OMIM:248370 |
Dominant Beta-Thalassemia |
|
Hypopituitarism, Chronic hepatitis, Hypoparathyroidism, Hepatosplenomegaly, Dyspnea, Osteoporosis... |
ORPHA:231226 |
Intellectual Disability And Myopathy Syndrome |
|
Limited elbow extension, Congenital hip dislocation, Achilles tendon contracture, Dental malocclu... |
OMIM:619719 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Short finger, Respiratory insufficiency, Knee flexion contracture, Anteverted nares, Tapered fing... |
OMIM:313420 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... |
OMIM:300106 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Metaphyseal sclerosis, Ovoid vertebral bodies, Metaphyseal widening... |
OMIM:609052 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Epicanthus, Sparse eyebrow, High, narrow palate |
OMIM:619692 |
Beta-Thalassemia Major |
|
Hypopituitarism, Hypoparathyroidism, Hepatomegaly, Hepatosplenomegaly, Dyspnea, Osteoporosis, Dec... |
ORPHA:231214 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Hip dysplasia, Wide anterior fontanel, Wormian bones, Micrognathia, Narr... |
OMIM:614541 |
Acrodysostosis |
|
Open mouth, Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpa... |
ORPHA:950 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Abnormal calcification of the carpal bones, Broad long bones, Flared iliac wing, Epiphyseal stipp... |
OMIM:271665 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Hypoplasia of teeth, Coxa valga, Hypophosphatemic rickets, Carious teeth, Genu valgum |
OMIM:613312 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Epiphyseal stippling, Hypoplastic pelvis, Cleft upper lip, Parakeratosis, Aplasia of the distal p... |
OMIM:308050 |
Leri-Weill Dyschondrosteosis |
|
High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle... |
OMIM:127300 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short humerus, Pectus excavatum, Limited elbow extension, Absent radius, Abs... |
OMIM:142900 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Pectus excavat... |
OMIM:618150 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Ritscher-Schinzel Syndrome 3 |
|
Poorly ossified vertebrae, Wide anterior fontanel, Ulnar bowing, Shortening of all distal phalang... |
OMIM:619135 |
Sweeney-Cox Syndrome |
|
Median cleft palate, Short distal phalanx of finger, High palate, Prominent metopic ridge, Genera... |
OMIM:617746 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Thin bony cortex, Rachitic rosary, Enlargement of the costochondral junction, Genu varum... |
ORPHA:289157 |
Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... |
OMIM:618386 |
Intellectual Disability, Birk-Barel Type |
|
Open mouth, Limited elbow flexion/extension, Broad philtrum, High, narrow palate, Tented upper li... |
ORPHA:166108 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Open mouth, High palate, Epicanthus, Long eyelashes, Bifid uvula, Synophrys, Submucous cleft hard... |
OMIM:617412 |
Pseudoachondroplasia |
|
Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,... |
ORPHA:750 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Retrognathia, Enamel hypoplasia |
OMIM:617915 |
Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Generalized joint laxity, Multiple rib fractures, Malar flattening, Bowing of th... |
OMIM:613848 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... |
OMIM:612529 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Increased susceptibility to fractures, Decreased ... |
ORPHA:231222 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short 5th finger, Apl... |
ORPHA:52056 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Downslanted palpebral fissures, Dental crowding, Highly arched eyebrow, Long philtru... |
OMIM:618825 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Abnormality of... |
ORPHA:564003 |
Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:3294 |
Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Subcutaneous o... |
OMIM:103580 |
Familial Thyroid Dyshormonogenesis |
|
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Abnormal epi... |
ORPHA:95716 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
Ollier Disease |
|
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Multiple enchondromatosis, M... |
ORPHA:296 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Scoliosis, Abnormality of fibula mor... |
ORPHA:3344 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Undulate ribs, Preaxial foot poly... |
OMIM:609945 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Scoliosis, Hip dysplasia, Abnormal metaphysis morphology, Abnormal ... |
ORPHA:2370 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:139474 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Protrusio acetabuli, Joint laxity, Increased susceptibility to fractures, Recurrent f... |
OMIM:610968 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi... |
OMIM:309350 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Mandibuloacral Dysplasia |
|
High palate, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalange... |
ORPHA:2457 |
Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... |
ORPHA:53697 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Large posterior fontanelle, Wide anterior fontanel, Epiphyseal stippling, Talipes equinovarus |
OMIM:614872 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syndactyly, Ac... |
ORPHA:88630 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Flat distal femoral epiphysis, Schmorl's node, Irregular epiphyses... |
OMIM:614135 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Boomerang Dysplasia |
|
Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poor... |
ORPHA:1263 |
Metatropic Dysplasia |
|
Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Respiratory failure, Hyperpla... |
OMIM:156530 |
Oculoskeletodental Syndrome |
|
Oligodontia, Abnormality of the dentition, Retrognathia, Enamel hypoplasia, Microdontia, Short 5t... |
ORPHA:557003 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Bifid uvula, Taurodontia, Absent lacrimal punctum, Microdontia, Enamel hypoplasia,... |
OMIM:129400 |
Junctional Epidermolysis Bullosa Inversa |
|
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... |
ORPHA:79405 |
Lethal Osteosclerotic Bone Dysplasia |
|
Dyspnea, Retrognathia, Depressed nasal ridge, Median cleft lip and palate, Short nose, Gingival f... |
ORPHA:1832 |
Cole-Carpenter Syndrome 2 |
|
Coronal craniosynostosis, High palate, Thin ribs, Osteopenia, Lambdoidal craniosynostosis, Micror... |
OMIM:616294 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Cdags Syndrome |
|
Coronal craniosynostosis, Sagittal craniosynostosis, Malar flattening, Short ribs, Large fontanel... |
OMIM:603116 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Epicanthus, Downslanted palpebral fissures, Mandibular prognathia, Dental malocclusion |
OMIM:618292 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Aplasi... |
ORPHA:1275 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Palmoplantar hyperkeratosis, Enamel hypoplasia, Carious teeth, Thick vermilion border |
ORPHA:363523 |
Ivic Syndrome |
|
Severe short stature, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulnar syno... |
ORPHA:2307 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Open mouth, High palate, Retrognathia, Epicanthus, Downslanted palpebral fissures, Persistence of... |
OMIM:618342 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... |
OMIM:259720 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:3196 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rickets, Osteomalacia, Micromelia, Large hands, Bilateral single transverse palmar creases, Brach... |
ORPHA:2636 |
Nance-Horan Syndrome |
|
Screwdriver-shaped incisors, Diastema, Broad finger, Mulberry molar, Short phalanx of finger, Sup... |
OMIM:302350 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Oligodontia, Joint stiffness, Misalignment of incisors, 11 pairs of ribs, E... |
OMIM:619184 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Microdontia, Enamel h... |
OMIM:618727 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ... |
OMIM:600081 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Momo Syndrome |
|
High palate, Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Taurodontia, Dental mal... |
ORPHA:2563 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Split hand, Aplasia/Hypoplasia of the... |
ORPHA:1447 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Short phalanx of finger, ... |
OMIM:612350 |
Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Bowing of limbs due to multiple fractures, Increased susceptibility... |
OMIM:166220 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short rib... |
ORPHA:2021 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Bifid uvula, Joint dislocation, Cleft palate, Slender toe, Narrow mouth, Sparse scalp hair, Coxa ... |
OMIM:130070 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Camptodactyly, Enamel hypoplasia, U-Shaped upper lip vermilion, Everted lower lip v... |
OMIM:619980 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Multiple joint contractures, Neona... |
OMIM:611369 |
Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Abnormal clavicle morphology... |
ORPHA:1520 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Solitary median maxillary central incisor, Advanced ... |
ORPHA:952 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Oligodontia, Sparse eyebrow, Hypodontia, Natal tooth, Sparse eyelashes |
OMIM:601345 |
Osteogenesis Imperfecta, Type I |
|
Finger joint hypermobility, Hip dysplasia, Osteopenia, Increased susceptibility to fractures, Rec... |
OMIM:166200 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... |
ORPHA:79406 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Micrognathia, Cleft palate |
OMIM:249710 |
Congenital Myopathy 14 |
|
High palate, Respiratory insufficiency due to muscle weakness, Knee flexion contracture, Death in... |
OMIM:618414 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia |
OMIM:615905 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Retrognathia, Delayed eruption of permanent teeth, Osteopenia, Short toe... |
OMIM:619269 |
Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Palmoplantar cutis laxa, Joint laxity, Dentinogenesis imperfecta, Aty... |
OMIM:229200 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Auriculocondylar Syndrome 2 |
|
Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crowding, Narrow m... |
OMIM:614669 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Coxa valga, Short greater sciatic notch, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Orofaciodigital Syndrome Xix |
|
High palate, Epicanthus, Retrognathia, Downslanted palpebral fissures, Accessory oral frenulum, M... |
OMIM:620107 |
Localized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Scarring al... |
ORPHA:251393 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Hip dysplasia, Widely spaced teeth, Microdontia, Enamel hypoplasi... |
OMIM:619293 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Hip dysplasia, Sagittal craniosynostosis, Broad phalanx of the to... |
OMIM:614378 |
Pseudohypoparathyroidism, Type Ic |
|
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption of teeth, B... |
OMIM:612462 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Single transverse palmar crease, Short distal phalanx of finger, Short first metatarsal, Prominen... |
OMIM:601957 |
Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Postaxial foot polydactyly, Bifid uvula, Postaxial polysyndactyly of... |
ORPHA:2919 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Increased susceptibility t... |
ORPHA:763 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Cachexia, E... |
ORPHA:824 |
Osteomesopyknosis |
|
Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... |
ORPHA:2777 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Long ... |
ORPHA:2635 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Eiken Syndrome |
|
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... |
OMIM:600002 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Long thorax, Preaxial polydactyly, Postaxial polydactyly,... |
OMIM:617925 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Camptodactyly, Coronal craniosynostosis, Flexion contracture, Wide anterior fontanel, Choanal atr... |
OMIM:207410 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Dorsal subluxation of ulna, Madelung deformity, Diaphyse... |
ORPHA:240 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of t... |
ORPHA:3145 |
Congenital Atransferrinemia |
|
Anemia, Arthritis, Hypothyroidism |
ORPHA:1195 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla |
ORPHA:99772 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmop... |
OMIM:226670 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Short femoral neck, Madelung deformity, Hyp... |
OMIM:249700 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Epicanthus, Micrognathia, Cleft palate |
ORPHA:1779 |
Chime Syndrome |
|
Osteolysis, Hip dislocation, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the phalanges o... |
ORPHA:3474 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Abnormal nasolacrimal system morphology, Abnormal eyebrow morpholog... |
ORPHA:3220 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Abnormality of the dentition, Punctate palmoplantar hyperkeratosis, Abno... |
ORPHA:69087 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage |
ORPHA:2867 |
Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
Potocki-Shaffer Syndrome |
|
Delayed puberty, Broad nasal tip, Depressed nasal tip, Prominent nasal bridge, Anemia, Hypothyroi... |
ORPHA:52022 |
Snijders Blok-Campeau Syndrome |
|
High palate, Epicanthus, Widely spaced teeth, Taurodontia, Enamel hypoplasia |
OMIM:618205 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, High palate, Aplasia/Hypoplasia of the radius, Abnormality of the wrist, Microdonti... |
ORPHA:1307 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hip dysplasia, Generalized joint laxity, Abnormality of the temporomandibular joint, Joint disloc... |
ORPHA:536471 |
Acrocallosal Syndrome |
|
Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydactyly, Abnormal clavicle morpho... |
ORPHA:36 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Abnormality ... |
ORPHA:2204 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, W... |
ORPHA:1860 |
Cardiospondylocarpofacial Syndrome |
|
Tooth malposition, Failure of eruption of permanent teeth, High, narrow palate |
ORPHA:3238 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Wide nasal bridge, Dep... |
ORPHA:1513 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, High palate, Abnormal metacarpal morphology |
ORPHA:2233 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Radioulnar synostosis, Abnormality of the dentition, Abnormal palate morphology, Carious teeth |
ORPHA:3270 |
Treacher Collins Syndrome 4 |
|
Malar flattening, Downslanted palpebral fissures, Cleft palate, Lower eyelid coloboma, Micrognathia |
OMIM:618939 |
Eem Syndrome |
|
Selective tooth agenesis, Widely spaced teeth, Abnormality of dental morphology, Microdontia, Abs... |
ORPHA:1897 |
Restrictive Dermopathy 2 |
|
Hypoplastic facial bones, Microretrognathia, Short clavicles, Overtubulated long bones |
OMIM:619793 |
Growth Hormone Insensitivity Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion |
ORPHA:181393 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Mandibulofacial Dysostosis With Alopecia |
|
Trismus, Everted lower lip vermilion, Cleft palate, Dental crowding, Glossoptosis, Lower eyelid c... |
OMIM:616367 |
Frank-Ter Haar Syndrome |
|
Broad nasal tip, Hip dysplasia, Cortical irregularity, Short phalanx of finger, Camptodactyly, Os... |
OMIM:249420 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Flared... |
OMIM:156510 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... |
ORPHA:2639 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Taurodontia, Enamel hypoplasia, Pulp calcification |
OMIM:211900 |
Birk-Barel Syndrome |
|
High palate, Long eyelashes, Bifid uvula, Tented upper lip vermilion, Highly arched eyebrow, Micr... |
OMIM:612292 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Mandibular pain, Calvarial osteo... |
OMIM:607634 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Shortening of the talar neck, Enamel hypomineralization, Osteoarthritis, Osteomalacia, H... |
OMIM:307800 |
Marshall Syndrome |
|
Bifid uvula, Small distal femoral epiphysis, Cleft palate, Radial bowing, Thick lower lip vermili... |
OMIM:154780 |
Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Patellar aplasia, Retrognathia, Slender long bone, Abn... |
ORPHA:2554 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious tee... |
ORPHA:79411 |
Thyroid Dyshormonogenesis 5 |
|
Goiter, Hypothyroidism |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Goiter, Hypothyroidism |
OMIM:274800 |
Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Wide anterior fontanel, Absent nasal bridge, Dental malocclus... |
OMIM:608545 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Respiratory insufficiency due to muscle weakness, Respiratory failure, Death... |
OMIM:300717 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal metaphysis morphology, Coarse... |
ORPHA:1782 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Recurrent respiratory infections, Respiratory insufficiency, Respiratory fail... |
OMIM:253300 |
Occipital Horn Syndrome |
|
Short humerus, Pectus excavatum, High palate, Limited elbow extension, Persistent open anterior f... |
OMIM:304150 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Micrognathia, Cleft palate |
OMIM:183700 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Wide anterior fontanel, Wormian bones, Shortening of all phalanges... |
OMIM:601356 |
Ivic Syndrome |
|
Short 1st metacarpal, Absent thumb, Short thumb, Preaxial polydactyly, Short clavicles, Short fem... |
OMIM:147750 |
Hall-Riggs Syndrome |
|
Thick vermilion border, Abnormal metaphysis morphology, Joint stiffness, Abnormal epiphysis morph... |
ORPHA:2107 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Concave nasal ridge, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis... |
OMIM:122860 |
48,Xxxy Syndrome |
|
Down-sloping shoulders, Elbow dislocation, Inguinal hernia, Hip dislocation, Mandibular prognathi... |
ORPHA:96263 |
Hurler Syndrome |
|
Macroglossia, Calvarial hyperostosis, Flexion contracture, Joint stiffness, Metaphyseal widening,... |
OMIM:607014 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... |
OMIM:619773 |
Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Abnormality of the dentition, Reduced bone mineral density, Abnormal metaphysis m... |
ORPHA:582 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Supernumerary ribs, Joint contracture of the hand, Camptodactyly, Lateral clavicle hoo... |
OMIM:182212 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Knee joint hypermobility, Finger joint hypermobility, Hip dysplasia, Genu varum, Joint stiffness,... |
ORPHA:93308 |
Thyroid Dyshormonogenesis 6 |
|
Congenital hypothyroidism, Hypothyroidism |
OMIM:607200 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Hypoplasia of teeth, Fifth finger distal phalanx clinodactyly, Broad long bones, Dental crowding,... |
OMIM:257850 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Platyspondyly, Short femur, Short f... |
OMIM:619598 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cleft palate, Narrow mouth, Long philtrum, Thin vermilion border, Incisor macrodontia, Patent duc... |
OMIM:615502 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatarsal, Cleft p... |
ORPHA:93307 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal hip bone morphology, Abnormal dental enamel morphology, Bila... |
ORPHA:3236 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand |
ORPHA:1118 |
Qazi-Markouizos Syndrome |
|
Open mouth, Hypoplasia of teeth, Delayed ossification of carpal bones, Broad philtrum, High, narr... |
ORPHA:3010 |
Pyknoachondrogenesis |
|
Stillbirth, Increased bone mineral density |
OMIM:265880 |
Restrictive Dermopathy 1 |
|
Congenital pseudoarthrosis of the clavicle, Osteolytic defects of the distal phalanges of the han... |
OMIM:275210 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Slender build, Dense metaphyseal bands, Osteopenia, Failure to thrive,... |
ORPHA:50811 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... |
ORPHA:319487 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... |
OMIM:617405 |
Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Micrognathia, Crumpled long bones, Abnormal rib morphology, Delay... |
ORPHA:2050 |
Osteogenesis Imperfecta, Type Vii |
|
Pectus excavatum, Wide anterior fontanel, Wormian bones, Osteopenia, Crumpled long bones, Delayed... |
OMIM:610682 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft palate, Short palpebral fissure, Blepharophimosis, Cleft upper lip, ... |
OMIM:601349 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
Orofacial Cleft 15 |
|
Epicanthus, Sparse eyelashes, Upslanted palpebral fissure, Euryblepharon, Bilateral cleft lip, Ag... |
OMIM:616788 |
Dysosteosclerosis |
|
Oligodontia, Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Absent ... |
OMIM:224300 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Thick hair, Mandibular prognathia, Short clavicles, Tapered finger, Highly arched eyebrow, Small ... |
ORPHA:401923 |
Hypochondroplasia |
|
Scoliosis, Abnormal metaphysis morphology, Genu varum, Bowing of the long bones, Brachydactyly, A... |
ORPHA:429 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Abnormal metaphysis morphology, Joint stiffness, Flat acetabular roof, Mis... |
ORPHA:1801 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Large fontanelles, Abnormal epiphysi... |
ORPHA:93267 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Progeroid Syndrome, Petty Type |
|
Wide anterior fontanel, Short distal phalanx of finger, Mandibular prognathia, Decreased skull os... |
ORPHA:2963 |
Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Abnormal epiphysis morphology, Decreased circulating T4 concentration, Elevated circulati... |
ORPHA:226313 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Bilateral coxa valga, Abnormal ilium morphology |
ORPHA:163665 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... |
ORPHA:1193 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, So... |
OMIM:602418 |
Liang-Wang Syndrome |
|
Macroglossia, Diastema, Synophrys, Downslanted palpebral fissures, Everted lower lip vermilion, D... |
OMIM:618729 |
Cole-Carpenter Syndrome 1 |
|
Coronal craniosynostosis, Reduced bone mineral density, Microdontia, Osteopenia, Recurrent fractu... |
OMIM:112240 |
Hypophosphatasia, Childhood |
|
Craniosynostosis, Rachitic rosary, Premature loss of primary teeth, Carious teeth, Bowing of the ... |
OMIM:241510 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ... |
OMIM:241530 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Bifid uvula, Ectropion, Glossoptosis, Micrognathia |
OMIM:615706 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:300123 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Lumbar hyperlordosis, Narrow greater sciatic notch, Irregular vertebral endplates, Fla... |
OMIM:609616 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Camptodactyly of finger, Osteolysis, Joint stiffness, Inguinal hernia, U... |
ORPHA:137834 |
Cohen Syndrome |
|
Single transverse palmar crease, Open mouth, Narrow palm, Short metatarsal, Short metacarpal, Hig... |
OMIM:216550 |
Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Short ribs, Wide anterior fontanel, Anterior rib cupping, Mesomelic/rhizomelic ... |
ORPHA:2347 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, High palate, Epicanthus, Synophrys, Mandibular prognathia, Narrow... |
ORPHA:1327 |
Cenani-Lenz Syndrome |
|
Oligodactyly, Foot oligodactyly, Hip dislocation, Short thumb, Malar flattening, Finger syndactyl... |
ORPHA:3258 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
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Sparse lateral eyebrow, Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
Heimler Syndrome 1 |
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Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
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