| Auriculocondylar Syndrome 2 |
|
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... |
OMIM:614669 |
| Larsen-Like Syndrome |
|
Wide anterior fontanel, Joint laxity, Cleft palate, Short stature, Kyphoscoliosis, Macrocephaly, ... |
OMIM:608545 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Arthrogryposis multiplex congenita, Microphthalmia, Cleft palate, Intrauterine growth retardation... |
OMIM:616570 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia |
OMIM:119540 |
| Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Narrow palate, Intestinal malrotation, Retrognathia, Increased overbite, High pala... |
OMIM:613684 |
| Mcdonough Syndrome |
|
Open bite, Scoliosis, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Kyphosis... |
ORPHA:2471 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... |
ORPHA:477781 |
| Fryns Macrocephaly |
|
Postnatal macrocephaly, Short philtrum, Everted lower lip vermilion, Cerebral atrophy, Wide mouth... |
OMIM:600302 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature |
OMIM:616108 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Long philtrum, Dental crowding, Abnormality of the dentition, Sacral dimple, Thin upper lip vermi... |
OMIM:616331 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... |
ORPHA:88661 |
| Alpha-Mannosidosis |
|
Open bite, Scoliosis, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperostosi... |
ORPHA:61 |
| Cerebellofaciodental Syndrome |
|
Scoliosis, Taurodontia, Cerebellar hypoplasia, Macrodontia of permanent maxillary central incisor... |
OMIM:616202 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Short stature, Dental m... |
ORPHA:1858 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... |
OMIM:144750 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Cleft Lip/Palate |
|
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... |
ORPHA:199306 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, T... |
OMIM:249630 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Dental malocclusion, Tongue atrophy |
OMIM:141300 |
| Auriculocondylar Syndrome 1 |
|
Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open... |
OMIM:602483 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Moderately short stature, Delayed eruption of teeth, Platyspondyly, Camptodactyly of finger, Join... |
OMIM:612350 |
| Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Dental malocclusion, Vertebral clefting |
OMIM:155050 |
| Potocki-Lupski Syndrome |
|
Scoliosis, Dental crowding, Hypoplasia of the corpus callosum, Mandibular prognathia, Wide mouth,... |
OMIM:610883 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Large for gestational age, Microphthalmia |
OMIM:248110 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, Growth delay, Microphthalmia, Short stature, High palate, Retrognathia, Microcephaly |
ORPHA:2528 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Abnormality of dental morphology, Back pain, Abnormality of th... |
ORPHA:210110 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Camptodactyly of finger, Narrow mouth, Downturned corners of mouth, Abnormal form of t... |
ORPHA:1327 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion |
OMIM:612529 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Van Maldergem Syndrome 1 |
|
Scoliosis, Pachygyria, Wide anterior fontanel, Downturned corners of mouth, Joint laxity, Hypopla... |
OMIM:601390 |
| Fanconi Anemia, Complementation Group S |
|
Narrow palate, Thick upper lip vermilion, Microphthalmia, Failure to thrive, Short stature, Micro... |
OMIM:617883 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Joint laxity, Kyphosis, Maxillary lateral incisor microdontia, Short stature, Macrocep... |
OMIM:300431 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Scoliosis, Pachygyria, Dental crowding, Proportionate short stature, Cerebella... |
OMIM:210600 |
| Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility, Thin vermilion border, Perisylvian polymicrogyria, Narrow mout... |
OMIM:600118 |
| Three M Syndrome 2 |
|
Hyperlordosis, Long philtrum, Delayed eruption of teeth, Thick vermilion border, Severe short sta... |
OMIM:612921 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Osteoporosis, Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Camptodac... |
OMIM:214150 |
| Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Arthrogryposis multiplex congenita... |
ORPHA:1466 |
| Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
| Marden-Walker Syndrome |
|
Scoliosis, Hypoplasia of the brainstem, Narrow mouth, Camptodactyly, Postnatal growth retardation... |
OMIM:248700 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Scoliosis, Abnormal periventricular white matter morphology, Cerebral white matter atrophy, Deep ... |
ORPHA:329178 |
| Dens In Dente And Palatal Invaginations |
|
Dens in dente, Abnormality of the dentition |
OMIM:125300 |
| Clark-Baraitser syndrome |
|
Scoliosis, Joint laxity, Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Exaggerat... |
OMIM:300602 |
| Van Maldergem Syndrome 2 |
|
Scoliosis, Wide anterior fontanel, Downturned corners of mouth, Joint laxity, Hypoplasia of the c... |
OMIM:615546 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion |
OMIM:608931 |
| Harrod Syndrome |
|
Scoliosis, Narrow mouth, Joint hyperflexibility, Kyphosis, Cerebral cortical atrophy, Failure to ... |
ORPHA:2115 |
| Momo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck, Taurodontia, La... |
ORPHA:2563 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Delayed eruption of teeth, Narrow palate, Anodontia, Kyphoscoliosis, Supernumerary tooth, Failure... |
OMIM:264475 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Microdontia, Dens in dente, Pulp calcification, Taurodontia |
OMIM:313490 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fractures, Oste... |
ORPHA:2785 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... |
OMIM:257850 |
| Mmep Syndrome |
|
Mandibular prognathia, Oral cleft, Microphthalmia, Microcephaly, Median cleft lip |
ORPHA:3434 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Platyspondyly, Oligodontia, Proportionate short stature, Joint contracture of the 5th finger, Irr... |
OMIM:601668 |
| Intellectual Disability, Buenos-Aires Type |
|
Open bite, Biparietal narrowing, Abnormality of dental morphology, Cuboid-shaped thoracolumbar ve... |
ORPHA:3079 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Growth delay, Hypodontia, Microg... |
OMIM:253250 |
| Pierpont Syndrome |
|
Scoliosis, Thin vermilion border, Joint laxity, Everted lower lip vermilion, Long upper lip, Smoo... |
ORPHA:487825 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Long philtrum, Platyspondyly, Abnormal bone ossification, Short neck, Wide anterior fontanel, Dow... |
ORPHA:163649 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Small for gestational ... |
ORPHA:2980 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short stature, Dental malocclusion, Short neck, Malar flattening |
ORPHA:436245 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... |
ORPHA:1193 |
| Cohen Syndrome |
|
Joint hypermobility, Short philtrum, Open mouth, Cerebellar hypoplasia, Decreased response to gro... |
OMIM:216550 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Hyperlordosis,... |
OMIM:190350 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphth... |
OMIM:615771 |
| Frank-Ter Haar Syndrome |
|
Osteoporosis, Cortical irregularity, Buphthalmos, Wide anterior fontanel, Kyphosis, Camptodactyly... |
OMIM:249420 |
| Craniometadiaphyseal Dysplasia |
|
Scoliosis, Carious teeth, Wide anterior fontanel, Dental crowding, Mandibular prognathia, Natal t... |
OMIM:269300 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Short philtrum, Growth delay, Small for gestational age, Microphthalmia,... |
ORPHA:1617 |
| Mcdonough Syndrome |
|
Short philtrum, Mandibular prognathia, Furrowed tongue, Short stature, Kyphoscoliosis, Dental mal... |
OMIM:248950 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Microphthalmia, Short stature, Simplified gyral pattern, Intrauterine growth re... |
OMIM:616171 |
| Myopathy, Myofibrillar, 8 |
|
Scoliosis, Joint hypermobility, Distal joint laxity, Joint contracture of the 5th finger, Achille... |
OMIM:617258 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Scoliosis, Thin vermilion border, Shoulder flexion contracture, Camptodactyly of fin... |
OMIM:619110 |
| Mental Retardation, Autosomal Dominant 21 |
|
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Sacral dimple, Short sta... |
OMIM:615502 |
| Pierpont Syndrome |
|
Scoliosis, Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, D... |
OMIM:602342 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Severe platyspondyly, Postnatal gro... |
OMIM:608940 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Narrow mouth, Dental crowding, Postnatal growth retardation, Increased susceptibility to fracture... |
ORPHA:251028 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Coronal craniosynostosis, Macrocephaly, High palate, Dental malocclusion,... |
OMIM:602849 |
| Hallermann-Streiff Syndrome |
|
Scoliosis, Hyperlordosis, Thin vermilion border, Joint hypermobility, Narrow palate, Narrow mouth... |
OMIM:234100 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Scoliosis, Delayed eruption of teeth, Decreased growth hormone responses to growth hormone-releas... |
OMIM:101800 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Fragile teeth, Hypodontia, Delayed puberty, Multiple joint co... |
ORPHA:2959 |
| Ritscher-Schinzel Syndrome 3 |
|
Epiphyseal stippling, Wide anterior fontanel, Poorly ossified vertebrae, Cerebellar vermis hypopl... |
OMIM:619135 |
| Gombo Syndrome |
|
Microcephaly, Delayed puberty, Microphthalmia |
OMIM:233270 |
| Frontometaphyseal Dysplasia 1 |
|
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Anteriorly placed odontoid process... |
OMIM:305620 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Joint hypermobility, C1-C2 vertebral abnormality, Narrow palate, Wide anterior fontane... |
OMIM:182212 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Osteopo... |
OMIM:156510 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral fusion, Cleft palate, Microphthalmia, Anophthalmia, Micrognathia, Vertebral segmentatio... |
OMIM:221950 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... |
OMIM:601216 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Osteoporosis, Camptodactyly of finger, Kyphosis, Cerebral cortical atrophy, Microphtha... |
ORPHA:48431 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Scoliosis, Short philtrum, Hypoplasia of the pons, Drooling, Joint laxity, Fle... |
OMIM:619293 |
| Cri-Du-Chat Syndrome |
|
Scoliosis, Short philtrum, Short neck, Downturned corners of mouth, Microretrognathia, Growth del... |
OMIM:123450 |
| Baraitser-Winter Syndrome 2 |
|
Long philtrum, Pachygyria, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia, Shor... |
OMIM:614583 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrogna... |
ORPHA:2521 |
| Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Decreased body weight, Hypodontia, Postnatal growth retardation, Intra... |
OMIM:300867 |
| Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Rieger anomaly, Hypodontia,... |
OMIM:269880 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Large for gestational age, Microphthalmia |
ORPHA:2432 |
| Intellectual Disability, Birk-Barel Type |
|
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, High, narrow ... |
ORPHA:166108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Mandibular prognathia, Kyphosis, Macrocephaly, High palate, Hypoplasia of the maxilla |
OMIM:300676 |
| Zimmermann-Laband Syndrome |
|
Joint hypermobility, Macroglossia, Gingival fibromatosis, Short neck, Growth delay, Wide mouth, H... |
ORPHA:3473 |
| Momo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Smooth philtrum, Macrocephaly,... |
OMIM:157980 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Oral cleft, Microphthalmia, Cleft upper lip, Cleft palate, Microcephaly, W... |
OMIM:601349 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Globa... |
OMIM:616920 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Tarsal synostosis, Abnormality of canin... |
ORPHA:363417 |
| Auriculocondylar Syndrome |
|
Macrocephaly, Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle a... |
ORPHA:137888 |
| Maxillonasal Dysplasia |
|
Open bite, Scoliosis, Patchy distortion of vertebrae, Mandibular prognathia, Tooth agenesis, Clef... |
ORPHA:1248 |
| Cerebellar-Facial-Dental Syndrome |
|
Scoliosis, Long philtrum, Hypoplasia of the brainstem, Short neck, Taurodontia, Hypoplasia of the... |
ORPHA:444072 |
| Faciothoracogenital Syndrome |
|
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Microphthalmia, Micrognathia |
OMIM:227320 |
| Chromosome 16Q22 Deletion Syndrome |
|
Short neck, Wide anterior fontanel, Growth delay, Postnatal growth retardation, Small for gestati... |
OMIM:614541 |
| Regional Odontodysplasia |
|
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... |
ORPHA:83450 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... |
ORPHA:85321 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Decreased body weight, Anal atresia, Small for gestational age, Short stat... |
ORPHA:93950 |
| Seckel Syndrome 2 |
|
Growth delay, Cerebellar hypoplasia, Microglossia, Small for gestational age, Microphthalmia, Sho... |
OMIM:606744 |
| Microphthalmia, Syndromic 13 |
|
Diastema, Microphthalmia, Short stature, Kyphoscoliosis, Microcephaly |
OMIM:300915 |
| Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Bilateral cleft lip and palate, Microphthalmia, Micrognathia, Accessory o... |
OMIM:619339 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in... |
OMIM:610829 |
| Lowry-Maclean Syndrome |
|
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Aplasia/Hypoplasia... |
ORPHA:2409 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Macrocephaly, Osteopetrosis, Severe short st... |
ORPHA:2780 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Scoliosis, Short philtrum, Narrow palate, Joint laxity, Open mouth, Hypoplasia of ... |
ORPHA:364028 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Otodental Syndrome |
|
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... |
ORPHA:2791 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifida occu... |
OMIM:300373 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Short neck, Decreased hip abduction,... |
OMIM:114300 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Camptodactyly, Dental malocclusion, Smooth philtrum, Abnormality of the dentition,... |
ORPHA:363444 |
| Liang-Wang Syndrome |
|
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Cerebral atroph... |
OMIM:618729 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Spondylolisth... |
OMIM:617877 |
| Amelogenesis Imperfecta, Type Ih |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... |
OMIM:616221 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Joint laxity, Intestinal malrotation, Pathologic fracture, High palate, Shor... |
OMIM:102500 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Short philtrum, Arthrogryposis multiplex congenita, Flexion contracture ... |
OMIM:610758 |
| Monosomy 18P |
|
Carious teeth, Short philtrum, Tooth malposition, Short neck, Downturned corners of mouth, Hypodo... |
ORPHA:1598 |
| Schwartz-Jampel Syndrome |
|
Pursed lips, Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplasm, I... |
ORPHA:800 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short philtrum, Short neck, Downturned corners of mouth, Rhizomelia, Microphthalmi... |
ORPHA:93267 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... |
OMIM:618386 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... |
OMIM:204650 |
| Oculofaciocardiodental Syndrome |
|
Scoliosis, Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Radioulnar s... |
ORPHA:2712 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hypodontia, Hemivertebrae, Vertebral... |
OMIM:263540 |
| Oliver Syndrome |
|
Scoliosis, Camptodactyly of finger, Short philtrum, Mandibular prognathia, Knee flexion contractu... |
ORPHA:2920 |
| Fetal Alcohol Syndrome |
|
Biparietal narrowing, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Joint sti... |
ORPHA:1915 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... |
OMIM:259610 |
| Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De... |
ORPHA:776 |
| Cardiofaciocutaneous Syndrome 1 |
|
Open bite, Scoliosis, Short neck, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Deep phi... |
OMIM:115150 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Microphthalmia, Short stature, Micro... |
ORPHA:3191 |
| Noonan Syndrome 4 |
|
Scoliosis, Short neck, Wide mouth, Thick vermilion border, Short stature, Macrocephaly, Dental ma... |
OMIM:610733 |
| Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Short stature, Dental... |
OMIM:603463 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Microcephaly, Basal ganglia calcification, Craniosynostosis, Hypoplasia of the maxilla |
OMIM:608432 |
| Craniofaciofrontodigital Syndrome |
|
Long philtrum, Joint hypermobility, Abnormality of the dentition, Short stature, Macrocephaly, De... |
OMIM:114620 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Hyperlordosis, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Massive... |
ORPHA:1798 |
| Baraitser-Winter Syndrome 1 |
|
Long philtrum, Pachygyria, Wide mouth, Postnatal growth retardation, Oral cleft, Thin upper lip v... |
OMIM:243310 |
| Frontonasal Dysplasia 1 |
|
Agenesis of corpus callosum, Hypoplastic frontal sinuses, Camptodactyly, Lipoma of corpus callosu... |
OMIM:136760 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Hypodontia, Glossoptosis, Short stature, Microcephaly, High, narrow pala... |
ORPHA:3201 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Growth delay, Small for gestational age, Microphthalmia, Kyphoscoliosis,... |
OMIM:610756 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... |
OMIM:241310 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Pachygyria, Hypoplasia of the corpus callosum, Smooth philtrum, Thin upper lip vermilion, Widely-... |
OMIM:618737 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Scoliosis, Long philtrum, Short neck, Agenesis of permanent teeth, Downturned corners of mouth, K... |
OMIM:616894 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Cerebral atrophy, Microphthalmia, Failure to thrive, Microcephaly, Agenesis of corp... |
OMIM:274270 |
| Temtamy Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Joint hyperflexibility, Abn... |
ORPHA:1777 |
| Takenouchi-Kosaki Syndrome |
|
Scoliosis, Long philtrum, Short philtrum, Abnormal periventricular white matter morphology, Downt... |
OMIM:616737 |
| Cockayne Syndrome B |
|
Osteoporosis, Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Mandibular p... |
OMIM:133540 |
| Hydrolethalus |
|
Absent septum pellucidum, Arrhinencephaly, Anophthalmia, Anencephaly, Gingival cleft, Unilateral ... |
ORPHA:2189 |
| Beaulieu-Boycott-Innes Syndrome |
|
Microcephaly, Carious teeth, Dental malocclusion |
OMIM:613680 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Camptodactyly, Oral cleft, Primary microcephaly, Small for ges... |
OMIM:618804 |
| Apert Syndrome |
|
Delayed eruption of teeth, Humeroradial synostosis, Narrow palate, Agenesis of corpus callosum, S... |
OMIM:101200 |
| Turnpenny-Fry Syndrome |
|
Narrow mouth, Dental crowding, Mandibular prognathia, High palate, Cavum septum pellucidum, Thora... |
OMIM:618371 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Scoliosis, Short neck, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Cerebral atrophy, Osteop... |
OMIM:611209 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Mild short stature, Flexion contracture, Decreased body weight, Dysplastic corpus c... |
OMIM:614833 |
| Neu-Laxova Syndrome |
|
Scoliosis, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Cerebral calcificatio... |
ORPHA:2671 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thin vermilion border, Open mouth, Supernumerary tooth, Short stature, Bifid uvula, High palate, ... |
OMIM:617412 |
| Warburg Micro Syndrome 3 |
|
Narrow palate, Downturned corners of mouth, Hypoplasia of the corpus callosum, Flexion contractur... |
OMIM:614222 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Mandibular ... |
OMIM:231070 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Abnormality of the dentition, Short stature, Hypoplasia of the maxilla |
ORPHA:2776 |
| Harrod Syndrome |
|
Malrotation of small bowel, Narrow mouth, Dental malocclusion, Aganglionic megacolon, Failure to ... |
OMIM:601095 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, Oligodontia, Persistence of primary teeth, Microdontia, Microphthalmia, Conica... |
OMIM:618727 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Open bite, Scoliosis, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, La... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Open bite, Scoliosis, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, La... |
ORPHA:352665 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Microcephaly, Short neck |
OMIM:613885 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening |
OMIM:613857 |
| Bresek Syndrome |
|
Scoliosis, Growth delay, Aganglionic megacolon, Hemivertebrae, Neonatal death, Optic nerve hypopl... |
ORPHA:85284 |
| Aarskog-Scott Syndrome |
|
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Joint hyperflexibility, Everte... |
ORPHA:915 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla |
ORPHA:99772 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Neonatal short-limb short stature, Wide anterior fontanel, Biconcave vertebral bodies,... |
OMIM:259420 |
| Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation |
|
Camptodactyly of finger, Short stature, Macrocephaly, High palate, Microcephaly, Hypoplasia of th... |
ORPHA:85279 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... |
ORPHA:2972 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Scoliosis, Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Cavum... |
ORPHA:457279 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxilla, Abnormality ... |
ORPHA:178303 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tarsal synostosis, Radioulnar synostosis, Deep philtrum, Diastema, Carpal synostosis,... |
OMIM:605282 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Scoliosis, Oligodontia, Short mandibular rami, Joint laxity, Prominent frontal... |
OMIM:170390 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Pyloric stenosis, Postnatal growth ... |
ORPHA:96184 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cleft upper lip, Cleft palate, Short stature, Microcephaly, Vertebral segmentatio... |
OMIM:612530 |
| Phelan-Mcdermid Syndrome |
|
Long philtrum, Joint hypermobility, Abnormal periventricular white matter morphology, Microcephal... |
OMIM:606232 |
| 7Q11.23 Microduplication Syndrome |
|
Joint hypermobility, Thin vermilion border, Craniosynostosis, Hemivertebrae, High palate, Short n... |
ORPHA:96121 |
| Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Open mouth |
OMIM:619149 |
| Ring Chromosome 10 Syndrome |
|
Long philtrum, Thin vermilion border, Short neck, Aganglionic megacolon, Cachexia, Microphthalmia... |
ORPHA:1438 |
| Robinow Syndrome |
|
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Small for gestational ag... |
ORPHA:97360 |
| Faciocardiomelic Syndrome |
|
Long philtrum, Hyperplasia of the maxilla, Osteopenia, Wide mouth, Cuboid-shaped vertebral bodies... |
OMIM:612731 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased s... |
OMIM:166220 |
| Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Microretrognathia, Camptodactyly, Cleft palate, High palate, Hypoplasia of the maxilla |
OMIM:246560 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Sclerotic vertebral endplates, Cortically dense long tubular bones, Facial... |
OMIM:269500 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Short neck, Narrow mouth, Hypoplasia of the corpus callosum, Microphthalmia, Short... |
OMIM:616734 |
| Desmosterolosis |
|
Narrow mouth, Intestinal malrotation, Increased bone mineral density, Micrognathia, Pachygyria, C... |
ORPHA:35107 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal vertebral morphology, Rhizomelia, Kyphosis, Abnormality of the dentition, Microphthalmia... |
ORPHA:35173 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Wide anterior fontanel, Joint laxity, Recurrent mandibular subluxations, Gingi... |
OMIM:225410 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Spondylo-Ocular Syndrome |
|
Osteoporosis, Long philtrum, Thin vermilion border, Platyspondyly, Thoracic kyphosis, Joint hyper... |
ORPHA:85194 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Platyspondyly, Abnormal periventricular white matter morphology, Kypho... |
ORPHA:1855 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hypoplasia of teeth, Postnatal growth retardation, Microphthalmia, Cleft palate, Intrauterine gro... |
ORPHA:2728 |
| Hamamy Syndrome |
|
Long philtrum, Craniosynostosis, Osteopenia, Wide mouth, Smooth philtrum, Hypodontia, High palate... |
OMIM:611174 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Joint hyperflexibili... |
ORPHA:90653 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... |
ORPHA:3352 |
| Cohen Syndrome |
|
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Delayed pu... |
ORPHA:193 |
| Dentinogenesis Imperfecta |
|
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... |
ORPHA:49042 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly, Crowded maxillary incisors, Obesity |
ORPHA:397973 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Long philtrum, Mandibular prognathia, Smooth philtrum, Tented upper lip vermilion, Failure to thr... |
OMIM:618975 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... |
OMIM:166300 |
| Microphthalmia, Syndromic 2 |
|
Scoliosis, Oligodontia, Contracture of the proximal interphalangeal joint of the 3rd toe, Anophth... |
OMIM:300166 |
| Micro Syndrome |
|
Scoliosis, Short philtrum, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Cereb... |
ORPHA:2510 |
| Stickler Syndrome, Type I |
|
Scoliosis, Platyspondyly, Pierre-Robin sequence, Morbus Scheuermann, Kyphosis, Beaking of vertebr... |
OMIM:108300 |
| Microcephaly-Micromelia Syndrome |
|
Humeroradial synostosis, Craniosynostosis, Short neck, Narrow mouth, Aplasia/Hypoplasia of the co... |
OMIM:251230 |
| Microphthalmia With Limb Anomalies |
|
Fused fourth and fifth metacarpals, Deep philtrum, Growth delay, Anophthalmia, Postnatal growth r... |
OMIM:206920 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Small for gestational age, Failure to thrive, Short stature, Intrauterine growth r... |
OMIM:608154 |
| Elsahy-Waters Syndrome |
|
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Abnormality of the vertebral c... |
OMIM:211380 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Conical incisor, ... |
OMIM:235510 |
| Hartsfield Syndrome |
|
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Non-midline cleft lip, Microphthalmi... |
ORPHA:2117 |
| Dubowitz Syndrome |
|
Scoliosis, Delayed eruption of teeth, Craniosynostosis, Wide anterior fontanel, Aplasia/Hypoplasi... |
ORPHA:235 |
| Osteogenesis Imperfecta |
|
Scoliosis, Joint hypermobility, Abnormal dental enamel morphology, Carious teeth, Small for gesta... |
ORPHA:666 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Cervical segmentation defect, Short neck, Rhizomelia, Cervical kyphosis, Cleft palate,... |
OMIM:108721 |
| Premature Aging Syndrome, Penttinen Type |
|
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Elevated circulating thyroid-stimula... |
OMIM:601812 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Macrocephaly, Microcepha... |
OMIM:614219 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Scoliosis, Joint hypermobility, Short philtrum, Postnatal growth retardation, Intrauterine growth... |
ORPHA:254531 |
| Craniolenticulosutural Dysplasia |
|
Scoliosis, Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypopl... |
ORPHA:50814 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Craniosynostosis, Biparietal narrowing, Camptodactyly of toe, Deep philtrum, Abnormalit... |
ORPHA:251038 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Narrow mouth, Short stature, Macrocephaly, Malar flattening, Hypoplasia of the max... |
ORPHA:261295 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Postnatal growth retardation, ... |
ORPHA:73272 |
| Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Microphth... |
OMIM:302350 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hypoplastic 5th lumbar vertebrae, Narrow mouth, Downturned corners of mouth, Microcephaly, Sacral... |
OMIM:211910 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Proportionate short stature, Optic disc hypoplasia, Postnatal growth retard... |
ORPHA:79345 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Oral cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Small for gestational age, Failure to thrive... |
OMIM:614261 |
| Rubinstein-Taybi Syndrome 1 |
|
Enamel hypoplasia, Scoliosis, Joint hypermobility, Narrow palate, Narrow mouth, Joint laxity, Den... |
OMIM:180849 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, Shor... |
OMIM:300534 |
| X-Linked Intellectual Disability, Porteous Type |
|
Short philtrum, Mandibular prognathia, Decreased body weight, Short stature, Hypoplasia of the ma... |
ORPHA:93945 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Open mouth, Camptodactyly, Anencephaly, Small for gestational age, High palate, Micrognathia, Ana... |
OMIM:619148 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... |
ORPHA:364577 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia |
OMIM:615524 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia, Cleft upper lip, Cleft palate |
OMIM:120433 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Narrow palate, Open mouth, Cerebral cortical atr... |
ORPHA:192 |
| Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Scoliosis, Hypoplasia of the brainstem, Restricted neck movement due to contractures... |
OMIM:193700 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Wide anterior fontanel, Postnatal growth retardation, Short stature, Intrauterine ... |
OMIM:618150 |
| Mend Syndrome |
|
Wide anterior fontanel, Hypoplasia of the corpus callosum, Kyphosis, Sacral dimple, Microphthalmi... |
ORPHA:401973 |
| Localized Scleroderma |
|
Esophagitis, Sclerosis of finger phalanx, Abnormality of facial skeleton, Flexion contracture, Ab... |
ORPHA:90289 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Short philtrum, Rhizomelia, Cerebellar hypoplasia, Wide mouth, Microphthalmia, Sho... |
ORPHA:163966 |
| Schilbach-Rott Syndrome |
|
Narrow mouth, Short stature, Bifid uvula, Microcephaly, Micrognathia, Submucous cleft hard palate |
OMIM:164220 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Scoliosis, Long philtrum, Short philtrum, Abnormal periventricular white matter morphology, Downt... |
ORPHA:487796 |
| Cherubism |
|
Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impacted teeth, Den... |
OMIM:118400 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Oral cleft, Macrocephaly at birth, Type II lissencephaly, Microphthalmia |
ORPHA:324416 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Narrow palate, Open mouth, Mandibular prognathia, Everted lower lip vermilion, Lumbar ... |
OMIM:303600 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cavum septum pellucidum, Progressive macrocephaly, Joint laxity, Megalencephaly, Smooth philtrum,... |
OMIM:602501 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding |
OMIM:600907 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening |
OMIM:608257 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Scoliosis, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of c... |
ORPHA:2919 |
| Mental Retardation, X-Linked, Syndromic, Martin-Probst Type |
|
Thick lower lip vermilion, Wide mouth, Short stature, Microcephaly, Dental malocclusion, Microgna... |
OMIM:300519 |
| Mccune-Albright Syndrome |
|
Scoliosis, Elevated circulating growth hormone concentration, Abnormality of facial skeleton, Rec... |
ORPHA:562 |
| Cockayne Syndrome |
|
Enamel hypoplasia, Scoliosis, Carious teeth, Postnatal growth retardation, Delayed puberty, Cereb... |
ORPHA:191 |
| 3P25.3 Microdeletion Syndrome |
|
Scoliosis, Abnormality of thalamus morphology, Short philtrum, Cerebral white matter atrophy, Dow... |
ORPHA:435638 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:278780 |
| Martsolf Syndrome 1 |
|
Short philtrum, Tooth malposition, Joint laxity, Lumbar hyperlordosis, Microphthalmia, Short stat... |
OMIM:212720 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Anal atresia, Narrow mouth |
ORPHA:3469 |
| Marshall Syndrome |
|
Long philtrum, Platyspondyly, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin seq... |
OMIM:154780 |
| Aarskog-Scott Syndrome |
|
Scoliosis, Elevated circulating luteinizing hormone level, Joint laxity, Mild short stature, Curv... |
OMIM:305400 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, Retrognathia, Microphthalmia |
OMIM:601552 |
| Cockayne Syndrome A |
|
Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Mandibular prognathia, Kyp... |
OMIM:216400 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Cleft palate, Microphthalmia, Anophthalmia, Agenesis of corpus... |
OMIM:164180 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Microcephaly, Failure to thrive, Submucous cleft hard palate |
OMIM:619239 |
| Pde4D Haploinsufficiency Syndrome |
|
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Joint laxity, Mandibular progna... |
ORPHA:439822 |
| Craniolenticulosutural Dysplasia |
|
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Macrocephaly, Hypoplasia of t... |
OMIM:607812 |
| Trisomy 13 |
|
Scoliosis, Long philtrum, Kyphosis, Anophthalmia, Abnormality of the dentition, Aplasia/Hypoplasi... |
ORPHA:3378 |
| Marden-Walker Syndrome |
|
Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Joint stiffness, Micrognathia, Radio... |
ORPHA:2461 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly, Microphthalmia |
ORPHA:291 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Scoliosis, Abnormal dental enamel morphology, Mandibular prognathia, Increased bone mineral densi... |
ORPHA:2658 |
| Peters-Plus Syndrome |
|
Scoliosis, Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral incisor, Joint ... |
OMIM:261540 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Narrow mouth, Microretrognathia, Microglossia, Short stature, Cleft palate, Ma... |
ORPHA:1307 |
| Childhood Apraxia Of Speech |
|
Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Caudate atrophy, Submucous cl... |
ORPHA:209908 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Duodenal atresia, Spina bifida occulta, Short stature, Microcephaly, Retrogna... |
OMIM:619227 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Hyperextensible hand joints, Narrow palate, Proportionate short stature, Deep philtrum, Camptodac... |
OMIM:227330 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Wide anterior fontanel, Decreased calvarial ossification, Natal tooth, Hamartoma of t... |
OMIM:617925 |
| Mohr Syndrome |
|
Scoliosis, Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue nodul... |
OMIM:252100 |
| Walker-Warburg Syndrome |
|
Macrocephaly, Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypop... |
ORPHA:899 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Scoliosis, Long philtrum, Abnormality of thalamus morphology, Downturned corners of mouth, Deep p... |
ORPHA:404440 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... |
OMIM:614188 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Scoliosis, Flexion contracture, High palate, Agenesis of corpus callosum, Hypoplasia of the maxilla |
OMIM:218000 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Scoliosis, Long philtrum, Progressive microcephaly, Cerebellar hypoplasia, Decreased body weight,... |
OMIM:300749 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Scoliosis, Long philtrum, Downturned corners of mouth, Microretrognathia, Deep philtrum, Inferior... |
OMIM:618571 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Basal ganglia calcification, Short stature, Dental malocclus... |
OMIM:259730 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Sacral dimple, Postnatal g... |
OMIM:223370 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Long philtrum, Thin vermilion border, Joint hypermobility, Hypoplasia of the brainstem, Thoracic ... |
ORPHA:481152 |
| Frontorhiny |
|
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic fronta... |
ORPHA:391474 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Dentinogenesis imperfect... |
OMIM:616294 |
| Moebius Syndrome |
|
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short neck, Camptodactyly, Abnor... |
OMIM:157900 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, ... |
ORPHA:1528 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal form of the vertebral bodies, Hypoplasia of the ma... |
ORPHA:93262 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Intestinal malrotation, Abnormal pelvis bone ossification, Multiple prenata... |
OMIM:215140 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Carious teeth, Short philtrum, Short neck, Downturned corners of mouth, Cr... |
ORPHA:1299 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Long philtrum, Mandibular prognathia, Deep philtrum, Thin upper lip vermilion, Microphthalmia, Si... |
OMIM:152950 |
| Solitary Median Maxillary Central Incisor |
|
Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cleft upper lip, Anop... |
OMIM:147250 |
| Nance-Horan Syndrome |
|
Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth |
ORPHA:627 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Scoliosis, Oligodontia, Joint hypermobility, Dental crowding, Pierre-Robin seq... |
OMIM:619184 |
| Angelman Syndrome |
|
Scoliosis, Macroglossia, Drooling, Mandibular prognathia, Wide mouth, Obesity, Protruding tongue,... |
OMIM:105830 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Long philtrum, Hypoplasia of the corpus callosum, Tented upper lip vermilion, Microphthalmia, Hig... |
OMIM:614105 |
| Zttk Syndrome |
|
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... |
OMIM:617140 |
| Ear-Patella-Short Stature Syndrome |
|
Mandibular aplasia, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Joint hyperflexibili... |
ORPHA:2554 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Thick lower lip vermilion, Birth length less than 3rd percentile, Failure to thrive... |
OMIM:613804 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Micrognathia, Duodenal stenosis, Limitation of joint mob... |
ORPHA:2547 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... |
OMIM:616367 |
| Carpenter Syndrome 1 |
|
Scoliosis, Short neck, Agenesis of permanent teeth, Lambdoidal craniosynostosis, Aplasia/Hypoplas... |
OMIM:201000 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, Short stature, Simplified gy... |
OMIM:251270 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Abnormality of the vertebral column, Bilateral cleft lip and palate, Anophthalmia |
OMIM:600776 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Rieger anomaly, Short stature, Macrocephaly, Malar flattenin... |
OMIM:109120 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Joint hypermobility, Six lumbar vertebrae, Unilateral cleft lip, Micrognathia, Unilateral cleft p... |
OMIM:619122 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Scoliosis, Joint hypermobility, Craniosynostosis, Postnatal growth retardation, Hemivertebrae, Hi... |
OMIM:213980 |
| Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Short stature, Submucous cleft hard palate |
OMIM:601492 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Partial agenesis of the corpus callosum, Mandibular prognathia, Wide mouth,... |
OMIM:619103 |
| Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Short stature, Submucous cleft hard palate |
OMIM:609166 |
| Nablus Mask-Like Facial Syndrome |
|
Long philtrum, Craniosynostosis, Narrow mouth, Camptodactyly, Secondary microcephaly, Smooth phil... |
OMIM:608156 |
| Treacher-Collins Syndrome |
|
Open bite, Abnormal dental enamel morphology, Narrow mouth, Rectovaginal fistula, High palate, Mi... |
ORPHA:861 |
| Pallister W Syndrome |
|
Agenesis of central incisor, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, J... |
OMIM:311450 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Broad skull, Tooth malposition, Narrow palate, Abnormality of dental morphology, Propo... |
OMIM:277600 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Cleft palate, Secondary microcephaly, Micrognathia, Malar flattening, Accessory or... |
ORPHA:79113 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Growth delay, Cerebral cortical atrophy, Microphthalmia, Microcephaly, Retro... |
OMIM:234050 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Joint hypermobility, Short neck, Narrow mouth, Dental crowding, Thin u... |
OMIM:300990 |
| Acrodysostosis |
|
Open bite, Delayed eruption of teeth, Epiphyseal stippling, Open mouth, Abnormal form of the vert... |
ORPHA:950 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... |
ORPHA:2751 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Short neck, Narrow mouth, Hypoplasia of the corpus callosum, Microphthalmia, Cleft palate, High p... |
OMIM:156610 |
| Sanjad-Sakati Syndrome |
|
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:2323 |
| Stevenson-Carey Syndrome |
|
Scoliosis, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Hypoplasia of the co... |
OMIM:611961 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Pachygyria, Narrow mouth, Hypoplasia of the corpus callosum, Camptodactyly, Cerebr... |
OMIM:617729 |
| Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Carious teeth, Taurodontia, Abnormal cerebral white matter morphology, Joint c... |
OMIM:164200 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the frontal sinuses, Lipoma of corpus callosum, Mi... |
ORPHA:306542 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia, Microcephaly, Severe postnatal growth retardation, Hypo... |
ORPHA:2399 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypoplasia of teeth, Cleft lip, Microphthalmia, Cleft palate, High palate, Dental malocclusion, P... |
OMIM:603457 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Abnormality of the dentition, Intrauterine growth retardation, Microphthalmia, Coronal craniosyno... |
ORPHA:228390 |
| Crouzon Disease |
|
Narrow palate, Hypoplasia of the maxilla, Cerebellar hypoplasia, Multiple suture craniosynostosis... |
ORPHA:207 |
| 3Q29 Microdeletion Syndrome |
|
Short philtrum, Dental crowding, Joint hyperflexibility, Everted lower lip vermilion, Abnormality... |
ORPHA:65286 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Cleft palate, High palate, Microphthalmia, Tooth agenesis |
ORPHA:1135 |
| Amish Lethal Microcephaly |
|
Osteoporosis, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Decreased skull ossifica... |
ORPHA:99742 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Cortical dysplasia, Microphthalmia, Cleft palate, Tracheoesophagea... |
ORPHA:261272 |
| Warburg Micro Syndrome 4 |
|
Long philtrum, Narrow mouth, Hypoplasia of the corpus callosum, Flexion contracture, Cerebral cor... |
OMIM:615663 |
| Holoprosencephaly 13, X-Linked |
|
Butterfly vertebrae, Colpocephaly, Agenesis of corpus callosum, Thoracic hemivertebrae, Solitary ... |
OMIM:301043 |
| 3Mc Syndrome 1 |
|
Wide anterior fontanel, Lambdoidal craniosynostosis, Dental crowding, Radioulnar synostosis, Grow... |
OMIM:257920 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Talon cusp, Narrow palate, Joint laxity, Dental crowding, Growth delay, Natal toot... |
ORPHA:353281 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Scoliosis, Epiphyseal stippling, Punctate vertebral calcifications, Postnatal growth retardation,... |
OMIM:302960 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Myhre Syndrome |
|
Platyspondyly, Thin vermilion border, Narrow mouth, Craniofacial hyperostosis, Mandibular prognat... |
ORPHA:2588 |
| Keipert Syndrome |
|
Tented upper lip vermilion, Short stature, Macrocephaly, Exaggerated cupid's bow, Hypoplasia of t... |
ORPHA:2662 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ver... |
ORPHA:438216 |
| Craniofacial-Deafness-Hand Syndrome |
|
Malar flattening, Hypoplasia of the maxilla |
OMIM:122880 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Camptodactyly, Upper lip pit, Broad uvula, Submucous cleft... |
ORPHA:2804 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thin vermilion border, Macrocephaly, Open mouth, Everted lower lip vermilion, Diastema, Wide mout... |
OMIM:212066 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Scoliosis, Cavum septum pellucidum, Short philtrum, Hypoplasia of the corpus callosum, Mandibular... |
ORPHA:464738 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Scoliosis, Hypoplasia of the brainstem, Type II lissencephaly, Flexion contracture, Cerebellar hy... |
OMIM:615249 |
| Microphthalmia, Lenz Type |
|
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Camptodactyly of finger, Aplasia/Hypoplasia ... |
ORPHA:568 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteoporosis, Delayed eruption of teeth, Metatarsal osteolysis, Camptodactyly of toe, C1-C2 sublu... |
OMIM:259600 |
| Fontaine Progeroid Syndrome |
|
Scoliosis, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Small for gestatio... |
OMIM:612289 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Microphthalmia, Cerebral calcification, Intrauterine growth retarda... |
ORPHA:858 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos |
OMIM:613703 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Rapp-Hodgkin Syndrome |
|
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... |
OMIM:129400 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... |
ORPHA:93324 |
| Cousin Syndrome |
|
Disproportionate short stature, Micrognathia, Rhizomelia, Camptodactyly, Microglossia, Wrist flex... |
OMIM:260660 |
| Tetrasomy 5P |
|
Long philtrum, Short neck, Wide anterior fontanel, Lipoma of corpus callosum, Cerebellar hypoplas... |
ORPHA:3309 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Cleft upper lip, Cleft palate, Agenesis of corpus callosum |
OMIM:614402 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis, Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conic... |
ORPHA:73223 |
| Orofaciodigital Syndrome Type 4 |
|
Oral cleft, Cerebral cortical atrophy, Rectovaginal fistula, High, narrow palate, Micrognathia, C... |
ORPHA:2753 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Smooth philtrum, Microphthalmia, Cleft soft palate, Micrognathia |
OMIM:614526 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Decreased body weight, Short stature, Cleft palate, Microcephaly, Retrognathia, Micrognathia, Hyp... |
OMIM:616462 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Short philtrum, Joint laxity, Open mouth, Dental crowding, Deep philtrum, Flexion contracture, Th... |
OMIM:309520 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos, Sacral dimple, Hemivertebrae, Anal atresia, ... |
OMIM:619318 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Unicoronal synostosis, Microretrognathia, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Hypopla... |
OMIM:616300 |
| Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Delayed eruption of teeth, Oligodontia, Hiatus hernia, Scoliosis, Joint laxity... |
OMIM:305600 |
| Holoprosencephaly 2 |
|
Scoliosis, Median cleft lip and palate, Cerebellar hypoplasia, Anterior pituitary agenesis, Solit... |
OMIM:157170 |
| Non-Specific Syndromic Intellectual Disability |
|
Scoliosis, Long philtrum, Thin vermilion border, Joint hypermobility, Narrow mouth, Frontal corti... |
ORPHA:528084 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Long philtrum, Microphthalmia, Short stature, Cleft palate, Microcephaly, Micrognathia |
ORPHA:2505 |
| Frontofacionasal Dysplasia |
|
Oral cleft, Microphthalmia, Cleft upper lip, Bifid uvula, Hypoplasia of the frontal bone, Malar f... |
OMIM:229400 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... |
OMIM:218670 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Macroglossia, Diffuse white matter abnormalities, Type II lissenceph... |
ORPHA:370959 |
| Joubert Syndrome 14 |
|
Short philtrum, Open mouth, Growth delay, Tented upper lip vermilion, Microphthalmia, Malar flatt... |
OMIM:614424 |
| Acrocallosal Syndrome |
|
Long philtrum, Thin vermilion border, Short philtrum, Macrocephaly, Hypoplasia of teeth, Open mou... |
OMIM:200990 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Scoliosis, Macroglossia, Hypoplasia of the corpus callosum, Deep philtrum, Kyphosis, Wide mouth, ... |
OMIM:619194 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Short stature, Simplified gyral pa... |
OMIM:617914 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Agenesis of corpus callosum, Microretrognathia, Cerebellar vermis hypopl... |
ORPHA:1692 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Narrow mouth, Hypoplasia of the maxilla |
ORPHA:1529 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:614082 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Scoliosis, Hypoplasia of the brainstem, Macroglossia, Buphthalmos, Pachygyria, Type II lissenceph... |
OMIM:613150 |
| Noonan Syndrome 1 |
|
Short neck, Dental malocclusion, Synovitis, Failure to thrive in infancy, Postnatal growth retard... |
OMIM:163950 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Micrognathia, Osteopetrosis, Microphthalmia |
OMIM:617306 |
| Rere-Related Neurodevelopmental Syndrome |
|
Scoliosis, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Postnatal growth reta... |
ORPHA:494344 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Craniosynostosis, Narrow mouth, Abnormal periventricular white matter morphology, Cortical dyspla... |
ORPHA:468631 |
| Williams Syndrome |
|
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Joint laxity, Failure to ... |
ORPHA:904 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Failure of eruption of permanent teeth, Tooth malposition, Anophthalmia, Microphthalmia, Cleft pa... |
ORPHA:2250 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Microphthalmia, Short stature, Obesity |
ORPHA:141333 |
| Kapur-Toriello Syndrome |
|
Scoliosis, Camptodactyly of finger, Pachygyria, Intestinal malrotation, Intrauterine growth retar... |
OMIM:244300 |
| Distal Xq28 Microduplication Syndrome |
|
Open mouth, Dental crowding, Short lingual frenulum, Short stature, High palate, Thick lower lip ... |
ORPHA:293939 |
| Microphthalmia, Syndromic 3 |
|
Vertebral hypoplasia, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Esophageal atres... |
OMIM:206900 |
| Acrocephalopolysyndactyly Type Iii |
|
Craniosynostosis, Dental crowding, Mandibular prognathia, Short neck, Malar flattening, Hypoplasi... |
OMIM:101120 |
| Monosomy 9Q22.3 |
|
Long philtrum, Delayed eruption of teeth, Short neck, Narrow mouth, Odontogenic keratocysts of th... |
ORPHA:77301 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Shovel-shaped maxillary central incisors, Open mouth, Dental crowding |
OMIM:600906 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis, Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandib... |
OMIM:268400 |
| Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Campto... |
OMIM:251300 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Thin vermilion border, Conical incisor, Synostosis of carpal bones, Ab... |
ORPHA:289 |
| Mosaic Trisomy 9 |
|
Scoliosis, Camptodactyly of finger, Short neck, Biparietal narrowing, Intestinal malrotation, Hem... |
ORPHA:99776 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Intestinal malrotation,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Intestinal malrotation,... |
ORPHA:353277 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Macrodontia of permanent maxillary central incisor, Impaired mastication, Kyphoscol... |
ORPHA:466722 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Joint laxity |
OMIM:608763 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Everted lower lip vermilion, Growth delay, Aplasia/Hypoplasia of the iris, Hypodon... |
ORPHA:782 |
| Myhre Syndrome |
|
Narrow mouth, Mandibular prognathia, Camptodactyly, Birth length less than 3rd percentile, Small ... |
OMIM:139210 |
| Cerebrofacioarticular Syndrome |
|
Narrow mouth, Anal stenosis, Hypoplasia of the corpus callosum, Camptodactyly, Cerebellar vermis ... |
ORPHA:314679 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Downturned corners of mouth, Open mouth, Mandibular prognathia, Camptodactyly, Wide... |
ORPHA:369891 |
| Cowden Syndrome 5 |
|
Scoliosis, Progressive macrocephaly, Narrow mouth, Kyphosis, Furrowed tongue, Colonic diverticula... |
OMIM:615108 |
| 8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Short philtrum, Short neck, Narrow mouth, Downturned corners of mouth, A... |
ORPHA:284160 |
| Marshall Syndrome |
|
Long philtrum, Thick lower lip vermilion, Hypoplastic frontal sinuses, Thick upper lip vermilion,... |
ORPHA:560 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Joint hypermobility, Recurrent fractures, Osteopenia, Increased susceptibility to f... |
OMIM:166200 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Abnormal form of the vertebral bodies, Neonatal short-trunk short statur... |
ORPHA:2839 |
| Aicardi Syndrome |
|
Scoliosis, Hiatus hernia, Prominence of the premaxilla, Cavum septum pellucidum, Pachygyria, Part... |
OMIM:304050 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Anal atresia, Microphthalmia, Short stature |
ORPHA:195 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Thin vermilion border, Long philtrum, Tarsal synostosis, Abnormal f... |
ORPHA:1106 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the tongue, Narrow mouth, Proportionate short stature, Natal tooth, Recurrent frac... |
ORPHA:2108 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Abnormal cerebral white matter mo... |
OMIM:613153 |
| Hartsfield Syndrome |
|
Craniosynostosis, Cleft upper lip, Cleft palate, Microcephaly, Hypoplasia of the frontal bone, Ag... |
OMIM:615465 |
| Fanconi Anemia, Complementation Group I |
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Agenesis of corpus callosum, Absent septum pellucidum, Decreased body weight, Optic nerve hypopla... |
OMIM:609053 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Birth length less than 3rd percentile, Failure to thrive, Short stature, Intrauter... |
OMIM:613805 |
| Stromme Syndrome |
|
Stillbirth, Cerebellar vermis hypoplasia, Intestinal malrotation, Wide mouth, Jejunal atresia, Ce... |
OMIM:243605 |
| Aneurysm-Osteoarthritis Syndrome |
|
Scoliosis, Osteoporosis, Intervertebral disc degeneration, Camptodactyly of finger, Joint laxity,... |
ORPHA:284984 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Platyspondyly, Rhizomelia, Intrauterine growth retardation, Microphthalmia, Decreased skull ossif... |
OMIM:300863 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Triangular mouth, Small for gestational age, Microphthalmia, Short stature, ... |
OMIM:601675 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Joint contracture of the 4th finger, Hypoplasia of the corpus callosum, Mandibular prognathia, Jo... |
OMIM:618914 |
| Fryns Syndrome |
|
Long philtrum, Short neck, Agenesis of corpus callosum, Intestinal malrotation, Wide mouth, Non-m... |
ORPHA:2059 |
| Basal Cell Nevus Syndrome |
|
Scoliosis, Irregular ossification of hand bones, Odontogenic keratocysts of the jaw, Mandibular p... |
OMIM:109400 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Abnormal palate morphology, Hypoplasia of the maxilla |
ORPHA:1540 |
| Cowden Syndrome 6 |
|
Scoliosis, Progressive macrocephaly, Narrow mouth, Kyphosis, Furrowed tongue, Colonic diverticula... |
OMIM:615109 |
| Cardioacrofacial Dysplasia 1 |
|
Short philtrum, Diastema, Conical tooth, Accessory oral frenulum, Hypoplasia of the maxilla |
OMIM:619142 |
| Myoclonic-Astatic Epilepsy |
|
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Microcephaly, Broad philtrum... |
ORPHA:1942 |
| Fraser Syndrome |
|
Dental crowding, Anal stenosis, Microcephaly, Oral cleft, Ectopic anus, Anal atresia, Bifid tongu... |
ORPHA:2052 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Narrow mouth, Growth delay, Diastema, Short upper lip, Microphthalmia, Short neck, Malar flatteni... |
OMIM:271960 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Scoliosis, Camptodactyly of finger, Mandibular prognathia, Abnormal palate morphology, Lip pit, H... |
ORPHA:1236 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Kapur-Toriello Syndrome |
|
Pachygyria, Intestinal malrotation, Oral cleft, Dysplastic corpus callosum, Polymicrogyria, Micro... |
ORPHA:2328 |
| Meier-Gorlin Syndrome 1 |
|
Narrow mouth, Thick lower lip vermilion, Joint laxity, Camptodactyly, Flexion contracture, Microc... |
OMIM:224690 |
| Aicardi Syndrome |
|
Scoliosis, Hiatus hernia, Short philtrum, Prominence of the premaxilla, Aplasia/Hypoplasia of the... |
ORPHA:50 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Narrow mouth, Microretrognathia, Cleft lower alveolar ridge, Pierre-Robin sequence, Aplasia of th... |
OMIM:268305 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, Sagittal craniosynostosis, A... |
OMIM:123500 |
| Nager Syndrome |
|
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Joint stiffness, Hypoplasia of the... |
ORPHA:245 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Apert Syndrome |
|
Delayed eruption of teeth, Narrow palate, Absent septum pellucidum, Mandibular prognathia, Esopha... |
ORPHA:87 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Bicoronal synost... |
OMIM:604757 |
| Stickler Syndrome |
|
Open bite, Scoliosis, Abnormal dental enamel morphology, Micrognathia, Osteoarthritis, Hypoplasia... |
ORPHA:828 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... |
OMIM:313500 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Narrow mouth, Oral cleft, Abnormally ossified vertebrae, Anal atresia, Septo-optic dysplasia, Mic... |
ORPHA:3301 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Anencephaly, Microphthalmia, Cleft palate, Intrauterine growth... |
OMIM:611134 |
| Weill-Marchesani Syndrome 2 |
|
Scoliosis, Broad skull, Tooth malposition, Narrow palate, Abnormality of dental morphology, Propo... |
OMIM:608328 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Microphthalmia, Short stature,... |
ORPHA:2788 |
| Shprintzen-Goldberg Syndrome |
|
Scoliosis, Camptodactyly of finger, Craniosynostosis, Abnormal form of the vertebral bodies, Join... |
ORPHA:2462 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Anal atresia, Microphthalmia, Intrauterine growth retardation, Microcephaly, Anteri... |
ORPHA:1352 |
| Saethre-Chotzen Syndrome |
|
Open bite, Scoliosis, Hyperlordosis, Craniosynostosis, Narrow palate, Abnormal form of the verteb... |
ORPHA:794 |
| Holoprosencephaly |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Failure to thrive in infancy,... |
ORPHA:2162 |
| Spondylospinal Thoracic Dysostosis |
|
