Larsen-Like Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Short stature, Macrocephaly, Joint laxity, Kyphoscol... |
OMIM:608545 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
Mcdonough Syndrome |
|
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Micrognathia, Cachexia, Shor... |
ORPHA:2471 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Micrognathia, Microphthalmia, Microcephaly, Intrauterine growth retardatio... |
OMIM:616570 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Mandibular prognathia, High palate, Relative macrocephaly, Mild short stature |
OMIM:618292 |
Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Arthrit... |
ORPHA:61 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Dental malocclusion, Talon cusp, Narrow palate, High palate, Short stature, Microgn... |
OMIM:613684 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Short stature, Small for ges... |
OMIM:610883 |
Craniosynostosis 3 |
|
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Partial agenesis of t... |
OMIM:615314 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Kyphoscoliosis, Microcephaly, Short stature |
OMIM:615541 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Scoliosis, Abnormality of th... |
ORPHA:1858 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... |
OMIM:619719 |
Pycnodysostosis |
|
Micrognathia, Increased bone mineral density, Increased susceptibility to fractures, Cerebral dys... |
ORPHA:763 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Short stature, Narrow mouth, Growth delay, Microphthalmia, Microcephaly |
ORPHA:2528 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... |
OMIM:612350 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Micrognathia, Camptodactyly, Sacral dimple, Hypoplasia of the corpus callosu... |
OMIM:601390 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Dental malocclusion, Camptodactyly of finger, Mandibular prognathia, High palate, ... |
ORPHA:1327 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Macrocephaly, Dental crowding, ... |
OMIM:602483 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate, Joint laxity |
OMIM:619692 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... |
OMIM:300431 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Seckel Syndrome 1 |
|
Enamel hypoplasia, Dental malocclusion, Abnormally large globe, High palate, Selective tooth agen... |
OMIM:210600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Lumbar scoliosis, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Micrognathia, H... |
OMIM:616171 |
Three M Syndrome 2 |
|
Dental malocclusion, Hyperlordosis, High palate, Long philtrum, Short stature, Delayed eruption o... |
OMIM:612921 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae |
OMIM:155050 |
Filippi Syndrome |
|
Decreased body weight, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum,... |
OMIM:272440 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita |
OMIM:608931 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex... |
OMIM:144750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... |
ORPHA:329178 |
Harrod Syndrome |
|
Dental malocclusion, Cerebral cortical atrophy, High palate, Kyphosis, Failure to thrive, Narrow ... |
ORPHA:2115 |
Clark-Baraitser syndrome |
|
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... |
OMIM:300602 |
Marden-Walker Syndrome |
|
Micrognathia, Camptodactyly, Short neck, Cleft palate, Postnatal growth retardation, Hypoplasia o... |
OMIM:248700 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Short stature, Failure to thrive, ... |
OMIM:617883 |
Intermediate Osteopetrosis |
|
Dental malocclusion, Back pain, Increased susceptibility to fractures, Osteomyelitis, Recurrent f... |
ORPHA:210110 |
Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Short s... |
ORPHA:1466 |
Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Short stature, Hypodontia, T... |
OMIM:253250 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Short stature, Cerebellar hypoplasia, Micrognathia, Joint hypermobili... |
OMIM:600118 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Abnormal bone ossific... |
ORPHA:2563 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Short stature, Widely spaced teeth |
OMIM:616108 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Mandibular prognathia, High palate, Short stature, Abnormality of dental mor... |
ORPHA:3079 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Long philtrum, Abnormal bone ossification, Thoracic kyphosis... |
ORPHA:163649 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, Sacral dimple, High palate, Wide anterior fontanel, Mic... |
OMIM:615546 |
Acrootoocular Syndrome |
|
Dental malocclusion, Short stature, Delayed eruption of teeth, Small for gestational age, Microgn... |
ORPHA:2980 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Proportionate short stature, ... |
OMIM:601668 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Small for gestational age, Short philtrum, Abnormal oral frenulum morpho... |
ORPHA:1617 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Hyperlordosis, Ivory epiphyses of the distal phalanges of the hand, Narrow p... |
OMIM:190350 |
Cohen Syndrome |
|
Childhood-onset truncal obesity, Macrodontia of permanent maxillary central incisor, Short statur... |
OMIM:216550 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Achilles tendon contracture, Joi... |
OMIM:617258 |
Frank-Ter Haar Syndrome |
|
Dental malocclusion, Abnormally large globe, High palate, Wide anterior fontanel, Wide mouth, Kyp... |
OMIM:249420 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Sacral dimple, Long philtrum, Short stature, Narrow mouth, Thin vermilion bo... |
OMIM:615502 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Widely spaced teeth, Small for gestational age, Primary microcephaly,... |
ORPHA:487825 |
Craniometadiaphyseal Dysplasia |
|
Abnormally large globe, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth, ... |
OMIM:269300 |
Muenke Syndrome |
|
Dental malocclusion, High palate, Capitate-hamate fusion, Coronal craniosynostosis, Macrocephaly,... |
OMIM:602849 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, High palate, Narrow palate, Wide anterior fontanel, Joint contracture of the... |
OMIM:182212 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Short stature, Micrognathia, Diastema, Short neck, Malar flattening |
ORPHA:436245 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Scoliosis, Platysp... |
OMIM:608940 |
Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... |
OMIM:601216 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, W... |
OMIM:616331 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the cervical spine, Kyphosis, ... |
ORPHA:48431 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Camptoda... |
OMIM:214150 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia, Microcephaly |
OMIM:233270 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Dental malocclusion, Multiple joint contractures, Short stature, Selective tooth agenesis, Small ... |
ORPHA:2959 |
Atkin-Flaitz Syndrome |
|
Short stature, Thick vermilion border, Macrocephaly, Maxillary lateral incisor microdontia, Evert... |
ORPHA:1193 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Sacral dimple, Foot joint contracture, Congenital finger flexion contracture... |
ORPHA:166108 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, Cleft palate, Postnat... |
ORPHA:251028 |
Seckel Syndrome 2 |
|
Short stature, Cerebellar hypoplasia, Small for gestational age, Micrognathia, Microdontia, Micro... |
OMIM:606744 |
Pierpont Syndrome |
|
Decreased body weight, Short stature, Prominent median palatal raphe, Widely spaced teeth, Everte... |
OMIM:602342 |
Turnpenny-Fry Syndrome |
|
Decreased body weight, Microdontia, Hypoplasia of the primary teeth, Lumbar hyperlordosis, Thorac... |
OMIM:618371 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Micrognathia, Poorly ossified vertebrae, Epiphyseal stippling, Relative m... |
OMIM:619135 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Microphthalmia, Microcephaly, Orofacial cleft |
ORPHA:3434 |
Momo Syndrome |
|
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... |
OMIM:157980 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Wide anterior fontanel, Small for gestational age, Micrognathia, Failure to thrive, ... |
OMIM:614541 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Mandibular prognathia, Short stature, Delayed eruption of teeth, Small for g... |
OMIM:101800 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... |
OMIM:619293 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Selective tooth agenesis, Delayed eruption of... |
OMIM:305620 |
Auriculocondylar Syndrome |
|
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Large for gestational age, Median cleft palate |
ORPHA:2432 |
Cri-Du-Chat Syndrome |
|
High palate, Small for gestational age, Thick lower lip vermilion, Bifid uvula, Short philtrum, M... |
OMIM:123450 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Decreased body weight, Short stature, Small for gestational age, Anal atre... |
ORPHA:93950 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Global brain atrophy, Wide anterior fontanel, Thick lower lip vermilion,... |
OMIM:616920 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Kabuki Syndrome 2 |
|
Dental malocclusion, Decreased body weight, Lower lip pit, High palate, Natal tooth, Short statur... |
OMIM:300867 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromatosis, Macrogloss... |
ORPHA:3473 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Thin vermilion border, Propo... |
OMIM:234100 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... |
ORPHA:364028 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Micrognathia, Microphthalmia, Accessory oral frenulum, Bilateral cleft li... |
OMIM:619339 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Foot joint contracture, Infancy onset short-trunk short stature, Hypoplasia ... |
ORPHA:444072 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Short stature, Everted lower lip vermilion, Th... |
OMIM:617877 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Microcephaly, Carious teeth |
OMIM:613680 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Kyphosis, Macrocephaly, Hypoplasia of the maxilla, Scoliosis,... |
OMIM:300676 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Short stature, Kyphoscoliosis, Microphthalmia, Microcephaly |
OMIM:300915 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Aplasia/Hypoplasia of the corpus callosum, Delayed ... |
ORPHA:2409 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Microphthalmia, Widely-spaced maxillary central incisors,... |
OMIM:601349 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Pr... |
ORPHA:363417 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi... |
ORPHA:1248 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... |
OMIM:618729 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature lo... |
OMIM:156510 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Long philtrum, Wide mouth, Short stature, Lissencephaly, Thin upper lip vermilion, ... |
OMIM:614583 |
Myopathy, Centronuclear, X-Linked |
|
Dental malocclusion, Flexion contracture, High palate, Pyloric stenosis, Macrocephaly, Dandy-Walk... |
OMIM:310400 |
Oliver Syndrome |
|
Camptodactyly of finger, Dental malocclusion, Knee flexion contracture, Mandibular prognathia, Hi... |
ORPHA:2920 |
Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Flexion contracture, Limited elbow movement, Short stature, Micrognathia, Mi... |
OMIM:614008 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Retrognathia, Mild microcephaly, Velopharyngeal i... |
ORPHA:363444 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Spina bifida occulta, Cleft... |
OMIM:300373 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border |
OMIM:601957 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... |
ORPHA:800 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Short stature, Elbow flexion contracture, Hypoplasia of the maxilla, Me... |
OMIM:259610 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Short stature, Thick lower lip vermilion, Micrognathia, Everted ... |
ORPHA:85321 |
Monosomy 18P |
|
Short stature, Micrognathia, Hypodontia, Short philtrum, Downturned corners of mouth, Short neck,... |
ORPHA:1598 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypoplasia of the frontal lobes, Dental malocclusion, Aplasia/Hypoplasia of the corpus callosum, ... |
OMIM:115150 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Short neck, T... |
OMIM:102500 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, High palate, Micrognathia, Ma... |
ORPHA:776 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Small for gestational age, Micrognathia, Kyphoscoliosis, Growth delay, M... |
OMIM:610756 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Cleidocranial Dysplasia 2 |
|
Wide anterior fontanel, Delayed eruption of primary teeth, Delayed ossification of carpal bones, ... |
OMIM:620099 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Short stature, Micrognathia, Microdontia, Vertebral segmentation defect, B... |
ORPHA:1915 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... |
ORPHA:1798 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Hypoplasia of the premax... |
OMIM:610829 |
Short Syndrome |
|
Dental malocclusion, Rieger anomaly, Birth length less than 3rd percentile, Delayed eruption of t... |
OMIM:269880 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microphthalmia, Growth delay, Cerebral atrophy, Microcephaly, Agenesis of corp... |
OMIM:274270 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Decreased body weig... |
OMIM:610758 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Short stature, Cerebella... |
OMIM:616202 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Apert Syndrome |
|
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Megalencephaly, Cl... |
OMIM:101200 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, High palate, Primary microcephaly, Small for gestational age, Camptodactyly, Short ... |
OMIM:618804 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Widely spaced teeth, Micrognathia, Microdontia, Thin corpus callosum, C... |
OMIM:619694 |
Noonan Syndrome 4 |
|
Dental malocclusion, Wide mouth, Short stature, Macrocephaly, Large for gestational age, Short ne... |
OMIM:610733 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck, Decreased skul... |
ORPHA:93267 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Macrocephaly, Notched primary central incisor, Microcephaly, Short stature |
OMIM:620062 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Pierre-Robin sequence, Wide mouth, Microphthalmia, Microcephaly, Cleft palate |
OMIM:619981 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Dental malocclusion, Bifid tongue, Long philtrum, Kyphosis, Short stature, Microgn... |
OMIM:616894 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Postnatal growth retardation, Limitation of joint m... |
OMIM:133540 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Short Stature, Dauber-Argente Type |
|
Short stature, Delayed eruption of teeth, Osteopenia, Microcephaly, Postnatal growth retardation,... |
OMIM:619489 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Joint contracture of the hand, Camptodactyly, Median cleft lip, Hypo... |
OMIM:136760 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... |
ORPHA:352665 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short stature, Micrognathia, Microdontia, Synostosis of carpal bones, Short neck, Scoli... |
ORPHA:3191 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Microgna... |
OMIM:265000 |
Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Cerebral cortical atrophy,... |
OMIM:616737 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Microphthalmia, Growth delay, Microcephaly |
OMIM:278780 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Persistence of p... |
OMIM:618727 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Short stature, Agenesis of corpus callo... |
OMIM:243310 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Short stature, Macrocephaly, Hypoplasia of the maxilla, Mic... |
ORPHA:85279 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Growth delay, Microphthalmia, Microceph... |
ORPHA:85284 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Progressive microcep... |
OMIM:618737 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Dental malocclusion, Abnormal periventricular white matter morphology, High palate... |
OMIM:606232 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ... |
ORPHA:2712 |
Rubinstein-Taybi Syndrome 1 |
|
Flexion contracture, Hyperintensity of cerebral white matter on MRI, Micrognathia, Spina bifida o... |
OMIM:180849 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Open mouth, Thin upper lip vermilion |
OMIM:619149 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Flexion contracture, Cerebellar hypoplasia, Macroglossia, Microphtha... |
OMIM:613155 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Temtamy Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Micrognathia, Macrocephaly,... |
ORPHA:1777 |
Cohen Syndrome |
|
Micrognathia, Tooth agenesis, Gingival overgrowth, Delayed puberty, Microcephaly, Obesity, Intrau... |
ORPHA:193 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Abnormality of the cervical spine, Long philtrum, Short... |
ORPHA:915 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
Warburg Micro Syndrome 3 |
|
Flexion contracture, Narrow palate, Cerebral cortical atrophy, Micrognathia, Downturned corners o... |
OMIM:614222 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short neck, Thin vermilion border, Sacral dimple, Hemiverte... |
ORPHA:96121 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Decreased body weight, Short stature, Lissencephaly, Optic nerve hypoplasia,... |
OMIM:614833 |
Micro Syndrome |
|
Cerebral cortical atrophy, High palate, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Shor... |
ORPHA:2510 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Periventricular leukomalacia, Hypoplasia of the maxilla, Microcephaly |
OMIM:618302 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Microdontia, Radioulnar synostosis, Carpal synostosis, Diastema, Cleft... |
OMIM:605282 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Decreased body weight, Delayed eruption of teeth, Bifid uvula, Phthisis bulb... |
OMIM:300166 |
Stickler Syndrome Type 1 |
|
Long philtrum, Hypoplasia of the maxilla, Joint hyperflexibility, Platyspondyly, Cleft palate, Ab... |
ORPHA:90653 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Short stature, Small for gestational age, Micrognathia, Pyloric stenosis, Bifid uvul... |
ORPHA:96184 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro... |
ORPHA:97360 |
Congenital Myopathy 17 |
|
Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, High palate, Long philtrum, Te... |
OMIM:618975 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Small for gestational age, Hypoplasia of the maxilla, Failure to thrive, Osteopeni... |
OMIM:608154 |
Microphthalmia With Limb Anomalies |
|
Retrognathia, Sacral dimple, Cleft upper lip, High palate, Anophthalmia, Deep philtrum, Capitate-... |
OMIM:206920 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Short stature, Abnormality of the dentition |
ORPHA:2776 |
Au-Kline Syndrome |
|
Retrognathia, Dental malocclusion, Sacral dimple, Thoracolumbar scoliosis, Bifid tongue, High pal... |
OMIM:616580 |
Hamamy Syndrome |
|
Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Recurrent fractur... |
OMIM:611174 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Short stature, Microdontia, Po... |
ORPHA:50814 |
Ring Chromosome 10 Syndrome |
|
Long philtrum, Micrognathia, Aganglionic megacolon, Cachexia, Short neck, Microphthalmia, Thin ve... |
ORPHA:1438 |
Elsahy-Waters Syndrome |
|
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Abno... |
OMIM:211380 |
Spondyloenchondrodysplasia |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Kyphosis, Juvenile rheumat... |
ORPHA:1855 |
Osteogenesis Imperfecta |
|
Flexion contracture, Delayed eruption of teeth, Micrognathia, Intestinal obstruction, Abnormal fo... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... |
OMIM:166220 |
Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... |
OMIM:618067 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Micrognathia, Cervical kyphosis, Hypoplasia of the maxilla, Cervic... |
OMIM:108721 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia |
OMIM:615524 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Microdontia, Microphthalmia, Microcephaly, Cleft palate, Hypoplasia of teeth... |
ORPHA:2728 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Mandibular prognathia, Irregul... |
OMIM:231070 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Retrognathia, Rectal prolapse, Narrow palate, Joint contracture of the hand, Delayed eruption of ... |
OMIM:235510 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Long philtrum, Micrognathia, Bifid uvula, Patchy osteosclerosis, Thin upper lip vermilion, Microp... |
OMIM:241410 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Thin bony cortex, Long philtrum, Wide mouth, Micrognathia, Cuboid-shaped ver... |
OMIM:612731 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Cleft palate, C... |
ORPHA:2117 |
Sclerosteosis 1 |
|
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Scler... |
OMIM:269500 |
Hydrolethalus |
|
Retrognathia, Anophthalmia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous... |
ORPHA:2189 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Macrocephaly, Hypoplasia of the maxilla, Obesity |
ORPHA:397973 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Retrognathia, Deep philtrum, Macrocephaly, Short philtrum, Joint laxity, Scoliosis, Smooth philtr... |
OMIM:620098 |
Coffin-Lowry Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Abnormal form ... |
ORPHA:192 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Small for gestational age, Hypoplasia of the maxilla, Failure to thrive, Progressi... |
OMIM:614261 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low... |
ORPHA:364577 |
Cockayne Syndrome A |
|
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... |
OMIM:216400 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Hyperextensibility at wrists, Flexion contracture, High palate, Long philtr... |
ORPHA:481152 |
3Q29 Microduplication Syndrome |
|
High palate, Deep philtrum, Ectopic anus, Camptodactyly of toe, Biparietal narrowing, Macrocephal... |
ORPHA:251038 |
Spondylo-Ocular Syndrome |
|
Long philtrum, Short stature, Thoracic kyphosis, Abnormal intervertebral disk morphology, Short n... |
ORPHA:85194 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:600251 |
Mend Syndrome |
|
Sacral dimple, High palate, Wide anterior fontanel, Kyphosis, Short stature, Micrognathia, Asymme... |
ORPHA:401973 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Delayed eruption of teeth, Micrognathia, Camptodactyly, Gingival overgrowth,... |
OMIM:619148 |
Marshall Syndrome |
|
Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla... |
OMIM:154780 |
Microcephaly-Micromelia Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Humeroradial synostosis, Simplified gyral pattern, Mic... |
OMIM:251230 |
Localized Scleroderma |
|
Dental malocclusion, Flexion contracture, Arthritis, Abnormal upper lip morphology, Abnormal bone... |
ORPHA:90289 |
Coffin-Lowry Syndrome |
|
Dental malocclusion, Mandibular prognathia, Decreased body weight, Narrow palate, High palate, Wi... |
OMIM:303600 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Flexion contracture, Long ... |
ORPHA:487796 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema, Microphth... |
OMIM:302350 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High palate, Kyphosis, Short philtrum, Everted lower lip vermilion, Tented upper li... |
OMIM:616449 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Short stature, Prominent frontal sinuses, Micrognathia, Oligodont... |
OMIM:170390 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, High palate, Short stature, Ankyloglossia, Macrocephaly, Polymicrogyria, Unila... |
OMIM:618874 |
Joubert Syndrome 37 |
|
High palate, Short stature, Cerebellar vermis hypoplasia, Joint hypermobility, Microphthalmia, Hy... |
OMIM:619185 |
Cherubism |
|
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Alveolar ridge overgrowth, Multipl... |
OMIM:118400 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Narrow mouth, Anal atresia, Microcephaly |
ORPHA:3469 |
Cockayne Syndrome |
|
Abnormal number of teeth, Primary microcephaly, Cachexia, Postnatal growth retardation, Abnormali... |
ORPHA:191 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Short stature, Osteopetrosis, Cerebral calcification, Diaphyseal sclerosis, ... |
OMIM:259730 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Short stature, Macrocephaly, Hypoplasia of the maxilla, Narrow mouth, Malar flatte... |
ORPHA:261295 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Short stature, Vertebral segmen... |
OMIM:612530 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Anophthalmia, Short neck, Microphthalmia, Microcephaly, Cleft palate |
OMIM:613885 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:120433 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Decreased body weight, Short stature, Short philtrum, Hypoplasia of the ma... |
ORPHA:93945 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Long philtrum, Submucous cleft hard palate, Limitation of joint mobility... |
ORPHA:178303 |
Carpenter Syndrome 1 |
|
Sacral dimple, Sagittal craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, High palate,... |
OMIM:201000 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Short stature, Pyloric stenosis, Eclabion, Failure to thrive, Meckel diverticulum, M... |
OMIM:616395 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Dela... |
ORPHA:568 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hyperextensibility of the finger joints, Short stature, Hypodontia, Hypoplasia o... |
OMIM:305400 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Vertebral fusion, High palate, Narrow palate, Wide mouth, Deep philtrum, Cam... |
OMIM:227330 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly |
ORPHA:291 |
Martsolf Syndrome 1 |
|
High palate, Long philtrum, Finger joint hypermobility, Short stature, Lumbar hyperlordosis, Micr... |
OMIM:212720 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Metatarsal osteolysis, Hypoplasia of the maxilla, Metacarpal osteolysis, Osteopenia... |
OMIM:166300 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Hypoplasia of the corpus callosum, Cle... |
OMIM:164180 |
Trisomy 13 |
|
Long philtrum, Kyphosis, Anophthalmia, Aplasia/Hypoplasia of the iris, Median cleft lip, Scoliosi... |
ORPHA:3378 |
Moebius Syndrome |
|
Hypoplasia of the brainstem, High palate, Micrognathia, Bifid uvula, Camptodactyly, Short neck, M... |
OMIM:157900 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Long philtrum, Deep philtrum, Kyphosis, Micrognathia, Bifid uvula, Abnormal oral frenulum morphol... |
ORPHA:404440 |
Peters-Plus Syndrome |
|
Decreased body weight, Short lingual frenulum, Micrognathia, Short neck, Conical incisor, Cleft p... |
OMIM:261540 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Knee flexion contracture, Mandibular prognathia, Deep philtrum, Micrognathia, Pylo... |
ORPHA:435638 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Decreased body weight, High palate, Flexion contracture, Short stature, Mi... |
OMIM:300534 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Kyphosis, Short stature, Coronal cra... |
OMIM:616294 |
Martin-Probst Syndrome |
|
Dental malocclusion, Wide mouth, Short stature, Thick lower lip vermilion, Micrognathia, Microcep... |
OMIM:300519 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Postnat... |
OMIM:619184 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Irregular vertebral endplates, Long philtrum, Micrognathia, Short philtrum... |
ORPHA:439822 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cavum septum pellucidum, Joint laxity, Microphthalmia, Megalencephaly, Smooth philtrum, Progressi... |
OMIM:602501 |
Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Short stature, Tongue nodules, Micrognathia, Porence... |
OMIM:252100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Microcephaly, Pac... |
OMIM:251270 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Joint contracture of the hand, Micrognathia, Camptodactyly, Malar flattening |
OMIM:608257 |
Barber-Say Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W... |
OMIM:209885 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Duodenal stenosis, Microphth... |
ORPHA:2547 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Short stature, Microdontia, Macrocephaly, Microretrognathia, Hypoplasia of the maxil... |
ORPHA:1307 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Short stature, Inferior cerebellar vermis hypoplasia, Microretrogna... |
OMIM:618571 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Natal tooth, Micrognathia, Anal atresia, Esophageal diverticulum, Short n... |
OMIM:617925 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal ... |
ORPHA:562 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Wide mouth, Short stature, Cerebellar hypoplasia, Micrognathia, Short philtrum, Micro... |
ORPHA:163966 |
Tetrasomy 5P |
|
High palate, Long philtrum, Wide anterior fontanel, Cerebellar hypoplasia, Micrognathia, Macrocep... |
ORPHA:3309 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Lissencephaly, Microphthalmia, Mic... |
ORPHA:1528 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Macrocephaly, Hypoplasia of the maxilla, Abnormality of the verteb... |
OMIM:109120 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microphthalmia, Microcephaly, Failure to thrive in infancy, Intrauterine ... |
ORPHA:858 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Long philtrum, Cerebellar vermis hypoplasia, Joint hypermobility, Thin upper lip vermilion, Anter... |
OMIM:618494 |
Frontorhiny |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Bifid tongue, Hypoplastic fro... |
ORPHA:391474 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Flexion contracture, High palate, Hypoplasia of the maxilla, Scoliosis, Diffuse white matter abno... |
OMIM:218000 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Tooth malposition, Narrow palate, Short stature, Abnormality of dental morpholo... |
OMIM:277600 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft |
OMIM:611638 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Tarsal stippling, Failure to thrive,... |
OMIM:302960 |
Angelman Syndrome |
|
Mandibular prognathia, Cerebral cortical atrophy, Wide mouth, Widely spaced teeth, Macroglossia, ... |
OMIM:105830 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... |
OMIM:616367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, High palate, Thin upper lip vermilion, Microcephaly, Tented upper lip vermil... |
ORPHA:438216 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... |
OMIM:200990 |
Crouzon Syndrome |
|
Narrow palate, Cerebellar hypoplasia, Abnormal sacrum morphology, Hypoplasia of the maxilla, Mult... |
ORPHA:207 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, High palate, Short stature, Neuropathic spinal arthropathy, Epiphyseal stipp... |
ORPHA:35173 |
Temtamy Syndrome |
|
Long philtrum, Micrognathia, Thick corpus callosum, Microphthalmia, Dental crowding, Hypoplasia o... |
OMIM:218340 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Retrognathia, Dental malocclusion, High palate, Bifid uvula, Joint laxity, Microphthalmia, Malar ... |
OMIM:601552 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Treacher-Collins Syndrome |
|
Micrognathia, Tooth agenesis, Abnormality of bone mineral density, Cleft palate, Glossoptosis, Ab... |
ORPHA:861 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Wide anterior fontanel, Gingival hyperkeratosis, Short stature, Micrognathia, Hypodontia, Joint l... |
OMIM:225410 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased body weight, Short stature, Micrognathia, Osteopenia, Microcephaly, Intrauterine growth... |
OMIM:608747 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Accessory oral fr... |
ORPHA:79113 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental malocclusion, Talon cusp, Narrow palate, Abnormality of the cervical spine, Natal tooth, S... |
ORPHA:353281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Flexion contracture, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... |
OMIM:615249 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Birth length less than 3rd percentile, Short stature, Micrognathia, Submucous clef... |
OMIM:613805 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... |
OMIM:218670 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Microphthalmia, Cleft palate |
ORPHA:1135 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Delayed eruption of teeth, Micrognathia, Metacarpal ... |
OMIM:259600 |
Adams-Oliver Syndrome 2 |
|
Cerebellar hypoplasia, Micrognathia, Macrocephaly, Microcephaly, Microphthalmia, Cerebral atrophy... |
OMIM:614219 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Macrocephaly, Osteopetrosis, Microphthalmia |
OMIM:617306 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Microphthalmia, Macrocephaly at birth, Orofacial cleft |
ORPHA:324416 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Acrodysostosis |
|
Mandibular prognathia, Short stature, Delayed eruption of teeth, Epiphyseal stippling, Spinal can... |
ORPHA:950 |
Rere-Related Neurodevelopmental Syndrome |
|
Micrognathia, Microphthalmia, Scoliosis, Hypoplasia of the corpus callosum, Intrauterine growth r... |
ORPHA:494344 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Long philtrum, Deep philtrum, Thick lower lip vermilion, Simplified gyral ... |
OMIM:152950 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Keipert Syndrome |
|
Short stature, Macrocephaly, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated c... |
ORPHA:2662 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal sacrum morphology, Hypoplasia of the maxilla, Abno... |
ORPHA:93262 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Microphthalmi... |
ORPHA:306542 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Long philtrum, Short stature, Micrognathia, Spinal canal st... |
ORPHA:2323 |
Galloway-Mowat Syndrome 3 |
|
High palate, Short stature, Simplified gyral pattern, Micrognathia, Camptodactyly, Lissencephaly,... |
OMIM:617729 |
Nance-Horan Syndrome |
|
Microphthalmia, Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Fontaine Progeroid Syndrome |
|
Microdontia, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Narrow mouth, Microcepha... |
OMIM:612289 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Thin corpus callosum, Short philtrum, Microphthalmia, Microcephaly, H... |
OMIM:614105 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Polymicrogyria, ... |
ORPHA:370959 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
High palate, Long philtrum, Micrognathia, Narrow mouth, Short neck, Microphthalmia, Microcephaly,... |
OMIM:156610 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Lobulated tongue, Bifid tongue, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Hypoplastic facia... |
OMIM:616300 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
3Q29 Microdeletion Syndrome |
|
High palate, Macrocephaly, Short philtrum, Everted lower lip vermilion, Failure to thrive, Joint ... |
ORPHA:65286 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, High palate, Wide mouth, Widely spaced teeth, Short stature, Camptodactyly... |
ORPHA:369891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Agenesis of... |
OMIM:613153 |
17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Tracheoesophageal fistula, Microphthalmia, Cortical dysplasia, Cle... |
ORPHA:261272 |
Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Cleft upper lip, High palate, Vertebral hyperostosis, Selective tooth agenesis... |
OMIM:164200 |
Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... |
OMIM:617255 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Growth delay, Microcephaly |
OMIM:614082 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Microphthalmia, Cleft lip, Cleft pa... |
OMIM:603457 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,... |
OMIM:241310 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Short stature, Anal atresia, Unilateral microphthalmos, Bilateral microphthalmos, ... |
OMIM:619318 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Recurrent fractures, Delayed eruption of teeth, Micrognathia, Narrow philtrum, Macr... |
OMIM:601812 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Short stature, Micrognathia, Caudal appendage, Agenesis of corpus callosum, ... |
ORPHA:314679 |
3Mc Syndrome 1 |
|
Sacral dimple, Cleft upper lip, Wide anterior fontanel, Coronal craniosynostosis, Caudal appendag... |
OMIM:257920 |
Walker-Warburg Syndrome |
|
Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, Bifid uvula, Submuco... |
ORPHA:899 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Coronal craniosynostosis, Agenesis of corpus callosum, Microphthalmia, Agenesis of... |
ORPHA:228390 |
Andersen-Tawil Syndrome |
|
High palate, Short stature, Micrognathia, Oligodontia, Joint laxity, Hypoplasia of the maxilla, T... |
ORPHA:37553 |
Aneurysm-Osteoarthritis Syndrome |
|
Retrognathia, Dental malocclusion, Camptodactyly of finger, High palate, Bifid uvula, Joint laxit... |
ORPHA:284984 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microphthalmia,... |
OMIM:234050 |
Meier-Gorlin Syndrome 4 |
|
Birth length less than 3rd percentile, Short stature, Thick lower lip vermilion, Micrognathia, Hy... |
OMIM:613804 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Mandibular prognathia, Kyphosis, Short philtrum, Everted lower lip vermilion, Tente... |
ORPHA:464738 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the brainstem, High palate, Wide mouth, Joint contracture of the hand, Small for ge... |
OMIM:251300 |
Cowden Syndrome 5 |
|
High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth... |
OMIM:615108 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Recurrent sinusitis, Short neck, Beaking of vertebral bodies, Cleft palate, Gingiva... |
OMIM:213980 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Short stature, Microdontia, Hypodontia, Bifid ... |
OMIM:129400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hypoplasia of the brainstem, Cerebellar hypoplasia, Spinal rigidity, Macroglossi... |
OMIM:613150 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Hyperlordosis, Long philtrum, Micrognathia, Maxillary lateral incisor microd... |
ORPHA:73223 |
Warburg Micro Syndrome 4 |
|
Flexion contracture, Cerebral cortical atrophy, Long philtrum, Short stature, Perisylvian polymic... |
OMIM:615663 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Short stature, Short lingual frenulum, Thick lower lip vermilion, Hypoplasia of the ... |
ORPHA:293939 |
Biemond Syndrome Type 2 |
|
Delayed puberty, Obesity, Microphthalmia, Short stature |
ORPHA:141333 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Dental malocclusion, Microretrognathia |
OMIM:615560 |
Cat-Eye Syndrome |
|
Microphthalmia, Anal atresia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, Narrow palate, High palate... |
OMIM:614188 |
Marshall Syndrome |
|
Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Short stature... |
ORPHA:560 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger joints, Microgn... |
OMIM:309520 |
Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Micrognathia, Short philtrum, Camptodactyly, Downturned corners of mouth, Short neck... |
OMIM:614230 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, High palate, Short stature, Delayed eruption of teeth, Small for gestation... |
OMIM:268400 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the cervical spine,... |
OMIM:123500 |
Williams Syndrome |
|
Peptic ulcer, Cerebral cortical atrophy, Colonic diverticula, Aplasia/Hypoplasia of the iris, Mic... |
ORPHA:904 |
Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Anophthalmia, Short stature, Delayed eru... |
OMIM:305600 |
Joubert Syndrome 14 |
|
Hypoplasia of the brainstem, Short philtrum, Tented upper lip vermilion, Growth delay, Microphtha... |
OMIM:614424 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypoplasia of the frontal lobes, Multiple joint contractures, Lissenceph... |
ORPHA:468631 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Long philtrum, Short stature, Micrognathia, Microphthalmia, Microcephaly, Cleft palate |
ORPHA:2505 |
Noonan Syndrome 1 |
|
Dental malocclusion, High palate, Short stature, High, narrow palate, Micrognathia, Synovitis, Ky... |
OMIM:163950 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Joint contracture of the hand, Cerebellar hypoplasia, Camptodactyly, Downt... |
OMIM:611961 |
Dubowitz Syndrome |
|
Sacral dimple, High palate, Short stature, Delayed eruption of teeth, Micrognathia, Velopharyngea... |
OMIM:223370 |
Ohdo Syndrome, X-Linked |
|
Decreased body weight, High palate, Long philtrum, Widely spaced teeth, Micrognathia, Microdontia... |
OMIM:300895 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... |
OMIM:608670 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Joint contractu... |
OMIM:618914 |
Microphthalmia With Limb Anomalies |
|
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Short stature, Microgn... |
ORPHA:1106 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Agenesis of pineal gland, Microphthalmia, Cleft palate, Agenesis of corpus callosum |
OMIM:614402 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Natal tooth, Cerebellar hypoplasia, Micrognathia, Supernumerary tooth, Trach... |
ORPHA:2108 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth |
ORPHA:1529 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hypoplasia of the corpus callosum, Open mouth, Macrodontia of permanent maxillary central incisor... |
OMIM:620114 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal corpus callosum morphology, Postnatal growth retardation, Talon cusp, Narr... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal corpus callosum morphology, Postnatal growth retardation, Talon cusp, Narr... |
ORPHA:353277 |
Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Micrognathia, Optic nerve hypoplasia, Intesti... |
OMIM:243605 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower lip vermilion, Hypoplasia ... |
ORPHA:782 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, High palate, Micrognathia, Biparietal narrowing, Limitation of joint mob... |
ORPHA:99776 |
Cowden Syndrome 6 |
|
High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth... |
OMIM:615109 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, High palate, Micrognathia, Sh... |
ORPHA:284160 |
Cousin Syndrome |
|
Anterior rounding of vertebral bodies, Wrist flexion contracture, Rhizomelia, Humeroradial synost... |
OMIM:260660 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Long philtrum, Deep philtrum, Kyphosis, Short... |
ORPHA:251014 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Abnormality of the vertebral spinous pr... |
ORPHA:1299 |
Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Microphthalmia, Smooth philtrum |
OMIM:614526 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Intestinal malrotation, ... |
OMIM:244300 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Short stature, Micrognathia, Neona... |
ORPHA:2839 |
Ellis Van Creveld Syndrome |
|
Capitate-hamate fusion, Delayed eruption of teeth, Microdontia, Hypodontia, Synostosis of carpal ... |
ORPHA:289 |
Mosaic Trisomy 1 |
|
Short upper lip, Camptodactyly of finger, Thoracic scoliosis, Wide mouth, Cerebellar hypoplasia, ... |
ORPHA:1692 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Microphthalmia, Malar flattening, O... |
OMIM:229400 |
Meckel Syndrome, Type 4 |
|
Anencephaly, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Cleft palate, Agene... |
OMIM:611134 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Macrocephaly, Decreased skull ossification, Microphthalmia, Platyspond... |
OMIM:300863 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Global brain atrophy, Growth delay, Microcephaly |
OMIM:308350 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia, Microcephaly, Severe postnat... |
ORPHA:2399 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Long philtrum, Kyphosis, Delayed eruption of teeth, Macroceph... |
ORPHA:77301 |
Zttk Syndrome |
|
Flexion contracture, Bifid uvula, Intestinal atresia, Abnormal cerebral white matter morphology, ... |
OMIM:617140 |
Myhre Syndrome |
|
Camptodactyly, Short neck, Cleft palate, Vertebral fusion, Birth length less than 3rd percentile,... |
OMIM:139210 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Neonatal death, Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Decreased body weight, Short stature, Micrognathia, Hypoplasia of the maxilla, Apla... |
OMIM:616462 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Camptodactyly of finger, Mandibular aplasia, Craniosynostosis, Micrognathia, Bifid ... |
ORPHA:2554 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Anophthalmia, Short stature, Prominent median palatal raphe, Torus palatinus, So... |
OMIM:147250 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Fryns Syndrome |
|
Non-midline cleft lip, Cerebral cortical atrophy, High palate, Long philtrum, Wide mouth, Ectopic... |
ORPHA:2059 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:2462 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Short stature, Joint laxity, Osteopenia, Microphthalmia, O... |
ORPHA:2788 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Short stature, Fused cervical vertebrae, Optic nerve hypoplasia, Short nec... |
OMIM:609053 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Kyphoscoliosis, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, High palate, Narrow palate, Short stature, Lumbar hyperlordosis, Broad skull, A... |
OMIM:608328 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur... |
OMIM:166200 |
Apert Syndrome |
|
Mandibular prognathia, Narrow palate, Ectopic anus, Delayed eruption of teeth, Esophageal atresia... |
ORPHA:87 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
Aicardi Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cleft upper lip, Block vertebrae, Malabsorption, Short phil... |
ORPHA:50 |
Fraser Syndrome |
|
Dental malocclusion, Cleft upper lip, Bifid tongue, High palate, Ectopic anus, Anophthalmia, Vert... |
ORPHA:2052 |
Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of ... |
OMIM:109400 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Micrognathia, Epiphyseal stippling, Hypoplastic ve... |
OMIM:215140 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Long philtrum, Short stature, Ankyloglossia, Failure to thrive, Scoliosis, Joint hyp... |
ORPHA:250989 |
Aicardi Syndrome |
|
Cleft upper lip, Cavum septum pellucidum, Block vertebrae, Prominence of the premaxilla, Butterfl... |
OMIM:304050 |
Cowden Syndrome 1 |
|
Hemimegalencephaly, High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the m... |
OMIM:158350 |
Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... |
ORPHA:245 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Flexion contracture, Short stature, Small for gestational age, Malabsorption, Intes... |
OMIM:601675 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Stickler Syndrome |
|
Micrognathia, Cachexia, Tooth agenesis, Slender build, Cleft palate, Glossoptosis, Abnormal form ... |
ORPHA:828 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Anal atresia, Anteriorly placed anus, Microphthalmia, Microcephaly, Intrauterine gr... |
ORPHA:1352 |
Pfeiffer Syndrome |
|
Mandibular prognathia, High palate, Humeroradial synostosis, Coronal craniosynostosis, Elbow anky... |
OMIM:101600 |
Kapur-Toriello Syndrome |
|
Polymicrogyria, Intestinal malrotation, Failure to thrive, Short neck, Microphthalmia, Pachygyria... |
ORPHA:2328 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Anophthalmia, Inferior cerebellar vermis hypoplasia, Microphthalmia, Microcephaly, A... |
ORPHA:139471 |
Teebi-Shaltout Syndrome |
|
Wide mouth, High, narrow palate, Short stature, Oligodontia, Caudal appendage, Camptodactyly, Nar... |
OMIM:272950 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Micrognathia, Anal atresia, Narrow mouth, Microphthalmia, Abnormally ossif... |
ORPHA:3301 |
Roberts Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, High palate, Micrognathia, ... |
ORPHA:3103 |
Saethre-Chotzen Syndrome |
|
Hyperlordosis, Narrow palate, Short stature, Hypoplasia of the maxilla, Scoliosis, Cleft palate, ... |
ORPHA:794 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Narrow... |
ORPHA:3380 |
Congenital Rubella Syndrome |
|
Short stature, Aplasia/Hypoplasia of the iris, Microphthalmia, Microcephaly, Intrauterine growth ... |
ORPHA:290 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Calvarial osteosclerosis, Short stature, Cortical thickening of long bone diaphyses, Bilateral mi... |
ORPHA:93325 |
Joubert Syndrome 22 |
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Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Agenesis of cerebel... |
OMIM:615665 |
Carpenter Syndrome 2 |
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Retrognathia, Dental malocclusion, Knee flexion contracture, Narrow palate, High palate, Long phi... |
OMIM:614976 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Optic nerve hypoplasia, ... |
OMIM:615181 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Microphthalmia, Short stature |
OMIM:610023 |
Myoclonic-Astatic Epilepsy |
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Long philtrum, Wide mouth, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, M... |
ORPHA:1942 |
Foveal Hypoplasia 2 |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Meier-Gorlin Syndrome 1 |
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Flexion contracture, High palate, Joint contracture of the hand, Birth length less than 3rd perce... |
OMIM:224690 |
Fraser Syndrome 1 |
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Difficulty in tongue movements, Cleft upper lip, Dental malocclusion, Abnormal small intestine mo... |
OMIM:219000 |
Nablus Mask-Like Facial Syndrome |
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Retrognathia, High palate, Long philtrum, Joint contracture of the hand, Camptodactyly, Everted l... |
OMIM:608156 |
Oculo-Palato-Cerebral Syndrome |
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Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Short stature, Joint hypermobili... |
ORPHA:2714 |
Oculocerebrorenal Syndrome Of Lowe |
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Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, Bu... |
ORPHA:534 |
Myhre Syndrome |
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Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard... |
ORPHA:2588 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Cleft upper lip, Hypoplasia of the brainstem, Cerebellar hypoplasia, Micrognathia, Agyria, Agenes... |
OMIM:236670 |
Gracile Bone Dysplasia |
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Short stature, Ankyloglossia, Failure to thrive, Decreased skull ossification, Microphthalmia, An... |
OMIM:602361 |
Microcephaly 20, Primary, Autosomal Recessive |
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Small cerebral cortex, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinence... |
OMIM:617914 |
Holoprosencephaly |
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Median cleft lip, Short neck, Tooth agenesis, Intestinal atresia, Abnormal form of the vertebral ... |
ORPHA:2162 |
Cardioacrofacial Dysplasia 1 |
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Conical tooth, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral frenulum |
OMIM:619142 |
Frontofacionasal Dysplasia |
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Non-midline cleft lip, Short stature, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia o... |
ORPHA:1791 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Tooth Agenesis, Selective, X-Linked, 1 |
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Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Camptodactyly of finger, Lip pit, Mandibular prognathia, Hypodontia, Abnormal palate morphology, ... |
ORPHA:1236 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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High palate, Short stature, Micrognathia, Broad alveolar ridges, Macrocephaly, Hypoplastic anteri... |
OMIM:616975 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Hypoplasia of the maxilla, Microphthalmia |
OMIM:167730 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, H... |
ORPHA:2250 |
Vacterl With Hydrocephalus |
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Retrognathia, Anophthalmia, Esophageal atresia, Absence of the sacrum, Micrognathia, Arrhinenceph... |
ORPHA:3412 |
Jackson-Weiss Syndrome |
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Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia |
ORPHA:1540 |
Ctcf-Related Neurodevelopmental Disorder |
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