Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinoschisis, Autosomal Dominant |
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Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
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Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 13 |
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Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
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Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Exudative Vitreoretinopathy 7 |
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Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Widely spaced teeth, Dental malocclusion, Malar flattening, Retinal dystrophy |
OMIM:616108 |
Stargardt Disease |
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Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Filippi Syndrome |
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Hypertrichosis, Sparse hair, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Fron... |
OMIM:272440 |
Taurodontism, Microdontia, And Dens Invaginatus |
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Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Hypoplasia of the retina, Retinal dystrophy |
OMIM:263100 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
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Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Primary Condylar Hyperplasia |
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Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Oligodontia |
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Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Microphthalmia, Isolated, With Coloboma 6 |
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Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Foveal Hypoplasia 1 |
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Hypoplasia of the fovea |
OMIM:136520 |
Persistent Placoid Maculopathy |
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Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Amelogenesis Imperfecta |
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Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Macular Degeneration, Age-Related, 1 |
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Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Albinism, Oculocutaneous, Type Iv |
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Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia |
OMIM:606574 |
Cleft Palate, Isolated |
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Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Florid Cemento-Osseous Dysplasia |
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Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
X-Linked Retinal Dysplasia |
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Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of hair, Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Abnormality of... |
ORPHA:33445 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hypoplasia of the retina, Retinal degeneration, Malar flattening, Everted lower lip vermilion, Mi... |
OMIM:253280 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Hypogonadism, Postnatal growth retardation, Dystonia, Central hypothyroidism |
OMIM:616113 |
Familial Drusen |
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Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Fryns Macrocephaly |
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Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Incisors, Shovel-Shaped |
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Shovel-shaped maxillary central incisors |
OMIM:147400 |
Rubinstein-Taybi Syndrome 2 |
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High palate, Dental malocclusion, Hirsutism, Narrow palate, Retrognathia, Micrognathia, Carious t... |
OMIM:613684 |
Birdshot Chorioretinopathy |
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Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Amelogenesis Imperfecta, Type Iiia |
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Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Otodental Syndrome |
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Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... |
ORPHA:2791 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Cleft Lip/Palate |
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Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Oculocutaneous Albinism Type 6 |
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Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... |
ORPHA:370097 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Liang-Wang Syndrome |
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Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Auriculocondylar Syndrome 2 |
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Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Albinism, Oculocutaneous, Type V |
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Albinism, Hypoplasia of the fovea |
OMIM:615312 |
Hemifacial Hyperplasia |
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Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Cohen Syndrome |
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Thick eyebrow, Decreased response to growth hormone stimulation test, Macrodontia of permanent ma... |
OMIM:216550 |
Regional Odontodysplasia |
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Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Retinitis Pigmentosa 13 |
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Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
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Widely-spaced incisors, Thick eyebrow, Optic atrophy, Hypoplasia of the maxilla, Synophrys, Thin ... |
OMIM:618737 |
Amelogenesis Imperfecta, Type Ie |
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Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia |
OMIM:301200 |
Trichothiodystrophy 9, Nonphotosensitive |
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Dental malocclusion, Sparse hair, Sparse eyebrow, Tiger tail banding, High, narrow palate, Nail d... |
OMIM:619692 |
Hemifacial Atrophy, Progressive |
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Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... |
OMIM:141300 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Dental malocclusion, Malar flattening, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Achromatopsia 7 |
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Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Atkin-Flaitz Syndrome |
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Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Conical mandibular incisor, Oligodontia, Discolored lateral incisors, Widely-spaced incisors |
OMIM:601668 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Temtamy Preaxial Brachydactyly Syndrome |
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Cleft palate, Diastema, Microdontia, Optic atrophy, Deep philtrum, Synophrys, Talon cusp, Highly ... |
OMIM:605282 |
Foveal Hypoplasia 2 |
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Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation |
OMIM:609218 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Micrognathia, Abnormality ... |
ORPHA:363417 |
Intellectual Developmental Disorder, X-Linked 58 |
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Dental malocclusion, Short philtrum |
OMIM:300210 |
Retinitis Pigmentosa 50 |
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Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Long eyelashes, Incisor macrodo... |
OMIM:615502 |
Intellectual Disability, Birk-Barel Type |
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High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Tented upper lip vermilion, In... |
ORPHA:166108 |
Bardet-Biedl Syndrome 21 |
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Hypodontia, Rod-cone dystrophy, Abnormality of the dentition, Retinal thinning, Hypoplasia of the... |
OMIM:617406 |
Pilodental Dysplasia With Refractive Errors |
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Sparse scalp hair, Hypodontia, Brittle hair, Brittle scalp hair, Conical incisor |
OMIM:262020 |
Mcdonough Syndrome |
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Dental malocclusion, Open bite, Micrognathia, Short philtrum, Synophrys, Abnormal palate morpholo... |
ORPHA:2471 |
Stickler Syndrome Type 1 |
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Cleft palate, Retinal detachment, Long philtrum, Hypoplasia of the maxilla, Abnormal vitreous hum... |
ORPHA:90653 |
Achromatopsia |
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Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Clark-Baraitser syndrome |
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Maxillary lateral incisor microdontia, Prominent median palatal raphe, Macroorchidism, Exaggerate... |
OMIM:300602 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Sparse eye... |
OMIM:257850 |
Cherubism |
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Alveolar ridge overgrowth, Optic neuropathy, Dental malocclusion, Narrow palate, Macular scar, Ol... |
OMIM:118400 |
Dental Anomalies And Short Stature |
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Hypertrichosis, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibu... |
OMIM:601216 |
Malocclusion Due To Protuberant Upper Front Teeth |
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Dental malocclusion |
OMIM:154300 |
Mulibrey Nanism |
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Dental malocclusion, Hypodontia, Pigmentary retinopathy, Enamel hypoplasia, Hypoplastic frontal s... |
OMIM:253250 |
Albinism, Oculocutaneous, Type Vi |
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Abnormal hair morphology, Hypoplasia of the fovea |
OMIM:113750 |
Dentin Dysplasia, Type I |
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Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasia of the fovea |
OMIM:619165 |
Atkin-Flaitz Syndrome |
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Maxillary lateral incisor microdontia, Prominent median palatal raphe, Macroorchidism, Exaggerate... |
OMIM:300431 |
Intellectual Disability And Myopathy Syndrome |
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Dental malocclusion, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Incisor ... |
OMIM:619719 |
Cataract 21, Multiple Types |
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Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
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Dental malocclusion, Mandibular prognathia, High palate |
OMIM:618292 |
Tricho-Dento-Osseous Syndrome |
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Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Microdontia, Enamel hypomineraliza... |
ORPHA:3352 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
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Hydrocele testis, Sparse scalp hair, Notched primary central incisor, High anterior hairline |
OMIM:620062 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
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High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Decreased respon... |
OMIM:264475 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... |
OMIM:602400 |
Craniosynostosis 3 |
|
Dental malocclusion, Low anterior hairline |
OMIM:615314 |
Vitreoretinal Degeneration, Snowflake Type |
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Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla, Nail dystr... |
OMIM:246560 |
Mental Retardation, Buenos Aires Type |
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High palate, Dental malocclusion, Wide mouth, Fair hair, Curly eyelashes, Carious teeth, Long eye... |
OMIM:249630 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Intermediate Osteopetrosis |
|
Dental malocclusion, Osteosclerosis of the base of the skull, Abnormality of the dentition, Optic... |
ORPHA:210110 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Aland Island Eye Disease |
|
Albinism, Hypoplasia of the fovea |
OMIM:300600 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Abnormality of hair texture, Nail dystrophy, Natal tooth, Thick vermilion bo... |
OMIM:601957 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition |
ORPHA:1858 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Malar flattening, Micrognathia, Optic disc coloboma, Aglossia, Hypoplasia of the max... |
OMIM:241310 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, High palate |
OMIM:608931 |
Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Sparse hair, Malar flattening, Sparse eyebrow, Sparse eye... |
ORPHA:560 |
Potocki-Lupski Syndrome |
|
High palate, Dental malocclusion, Wide mouth, Poor eye contact, Micrognathia, Hypothyroidism, Den... |
OMIM:610883 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Retrognathia, Micrognathia, Thin vermilion border, Long philtrum, Downturned corners... |
OMIM:613792 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Synophrys |
OMIM:615541 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn... |
ORPHA:1248 |
Cowden Syndrome 5 |
|
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... |
OMIM:615108 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... |
OMIM:618727 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Low anterior hairline, Ovarian neoplasm, Sparse h... |
OMIM:617883 |
Mcdonough Syndrome |
|
Dental malocclusion, Sparse hair, Micrognathia, Short philtrum, Furrowed tongue, Synophrys, Mandi... |
OMIM:248950 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Macrodontia of permanent maxillary central incisor, Poor eye contact, Malar flatte... |
ORPHA:364028 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Retinal coloboma, Long philtrum, Delayed eruption ... |
OMIM:157980 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Dental malocclusion, Wide mouth, Low anterior hairline, Thick eyebrow, Overfri... |
OMIM:619293 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... |
ORPHA:352731 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Downturned corners of mouth, Hypop... |
ORPHA:2409 |
Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Microphth... |
OMIM:302350 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Thin vermilion border, Premature loss of teeth, Short philtrum, Hypoplasia of the maxilla |
OMIM:156510 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Palmoplantar hyperhidrosis, Widely spaced primary teeth, Hypodontia, Sparse ey... |
OMIM:257980 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size |
ORPHA:93950 |
Cowden Syndrome 6 |
|
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... |
OMIM:615109 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Progressive alopecia, Narrow mouth, Velopharyngeal insufficiency, Sparse hair, C... |
OMIM:129400 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Widely spaced t... |
ORPHA:61 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Cleft Velum |
|
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate |
ORPHA:99772 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Carious teeth, Hi... |
OMIM:613680 |
Marshall Syndrome |
|
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Malar flattening, ... |
OMIM:154780 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... |
ORPHA:1327 |
Developmental And Epileptic Encephalopathy 83 |
|
Poor eye contact, Long philtrum, Hypoplasia of the fovea, Synophrys, High anterior hairline, High... |
OMIM:618744 |
Acrootoocular Syndrome |
|
Dental malocclusion, Anodontia, Supernumerary tooth, Decreased response to growth hormone stimula... |
ORPHA:2980 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Alopecia, Sparse eyelashes, Micrognathia, Everted lower lip vermilion, Glossoptosis... |
OMIM:616367 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Primary amenorrhea, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Frontal balding |
ORPHA:93945 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Microphthalmia, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Wido... |
OMIM:136760 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia, Lo... |
OMIM:263540 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Hypopigmentation of the fundus |
ORPHA:178333 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Broad eyebrow, Hypoplasia of the maxilla, Synophrys |
OMIM:618302 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla |
ORPHA:2776 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla |
OMIM:608432 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Abnormality of visual evoked potentials |
ORPHA:1389 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening |
ORPHA:93262 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Low anterior hairline, Micrognathia, Optic atrophy, Deep philtr... |
ORPHA:329178 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... |
ORPHA:193 |
Lujan-Fryns Syndrome |
|
High palate, Micrognathia, Abnormality of the dentition, Short philtrum, Hypoplasia of the maxill... |
ORPHA:776 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Patchy alopecia, Hypoplasia of the maxilla, Decreased testicular size, Cryptorchidism |
ORPHA:85279 |
Cri-Du-Chat Syndrome |
|
High palate, Overfriendliness, Premature graying of hair, Microretrognathia, Short philtrum, Ante... |
OMIM:123450 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Palmoplantar hyperhidrosis, Tooth agenesis, Sparse eyebrow, Short eyelashes, S... |
OMIM:150400 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla |
ORPHA:397973 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Abnormality of macular pigmentation, Dental malocclusion, Cone/cone-rod dystrophy |
OMIM:608940 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Intention tremor, Bilateral cry... |
ORPHA:466722 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Long philtrum, Delayed ... |
ORPHA:2563 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Agenesis of molar, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of later... |
OMIM:313500 |
Incontinentia Pigmenti |
|
Microphthalmia, Sparse hair, Supernumerary nipple, Alopecia, Retinal vascular proliferation, Hypo... |
OMIM:308300 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... |
ORPHA:85321 |
Holoprosencephaly 9 |
|
Cleft upper lip, Hypoplasia of the premaxilla, Dental malocclusion, Cryptorchidism, Malar flatten... |
OMIM:610829 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla |
OMIM:259610 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... |
ORPHA:915 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... |
OMIM:158350 |
Canavan Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:141 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia |
ORPHA:2185 |
Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Prominence of the premaxilla, Long philtrum, Deep philtrum, Open mouth |
OMIM:137550 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Leukonychia, Narrow palate, Sparse hair, Micrognathia, Thin eyebrow, Long ph... |
OMIM:190350 |
Sclerosteosis 1 |
|
Dental malocclusion, Tooth malposition, Malar flattening, Papilledema, Irregular menstruation, Op... |
OMIM:269500 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Exaggerated startle response, Tented upper lip vermilion, Incisor macrodontia, Abnor... |
ORPHA:438216 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Low anterior hairline, Malar flattening |
OMIM:602849 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Tooth agenesis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Abnormality... |
ORPHA:238468 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Low anterior hairline, Tremor, Hypoplasia of the maxilla, Limb tremor |
OMIM:218000 |
Familial Benign Copper Deficiency |
|
Early balding, Aplasia/Hypoplasia of the fovea, Short stature |
ORPHA:1551 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Low anterior hairline, Sparse hair, Sparse eyebrow, Sparse eyelashes, ... |
OMIM:608156 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Decreased growth hormone responses to growth hormone-releasing hormone chall... |
OMIM:101800 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Hypoplasia of the maxilla, Narrow mouth, Malar flattening |
ORPHA:261295 |
Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Cleft palate, Hypoplasia of the maxilla, Abnormal hair whorl |
OMIM:614261 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Retrognathia, Abnor... |
ORPHA:363444 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Isolated Aniridia |
|
Aniridia, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Supernumerary nipple, Patchy alopecia, Sparse eyelashes, Sparse body hair, Cleft... |
OMIM:106260 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Elevated circulating... |
OMIM:601812 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Thick eyebrow, Cleft palate, Hypodontia, Macrogloss... |
ORPHA:3473 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Taurodontia, Agenesis of central incisor, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Red hair, Hypopigmentation of the fu... |
OMIM:203200 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding |
OMIM:616390 |
Hallermann-Streiff Syndrome |
|
High palate, Sparse hair, Sparse eyebrow, Optic disc coloboma, Microphthalmia, Selective tooth ag... |
OMIM:234100 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... |
ORPHA:137888 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... |
OMIM:603463 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Dystonia |
ORPHA:96 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials |
OMIM:616648 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Sparse hair, Sparse eyebrow, Microdontia, Hypoplasia of the maxilla, Conical tooth... |
OMIM:305100 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Abnormality of retinal pigmentation, Narrow palate, Hypodontia, Everted ... |
ORPHA:192 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
Crouzon Syndrome |
|
Optic atrophy, Narrow palate, Hypoplasia of the maxilla |
ORPHA:207 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathi... |
OMIM:616331 |
Pycnodysostosis |
|
Obtuse angle of mandible, Dental malocclusion, High palate, Persistence of primary teeth, Decreas... |
ORPHA:763 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde... |
ORPHA:50814 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Hypoplasia of the maxilla |
ORPHA:1529 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distichiasis, H... |
OMIM:211370 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Bifid uvula, Delayed eruption of teeth |
OMIM:612350 |
Oculocutaneous Albinism Type 5 |
|
High palate, Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology |
ORPHA:370091 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... |
ORPHA:1215 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Hypoplasia of the maxilla, Sparse axillary hair |
OMIM:608154 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:601809 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Poor eye contact, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Short lingual f... |
ORPHA:293939 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Fine hair, Mandibu... |
ORPHA:3079 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Barber-Say Syndrome |
|
Absent nipple, Dental malocclusion, Hypertrichosis, Low anterior hairline, High palate, Wide mout... |
OMIM:209885 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of hair, Hypoplasia of the... |
ORPHA:79435 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Short philtrum, Diastema, Conical tooth, Hypoplasia of the maxilla |
OMIM:619142 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hirsutism, Gingival overgrowth, Narrow mouth, Cryptorchidism, Malar flattening, Narrow palate, Re... |
OMIM:235510 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition, Abnormal hair pattern, Long philt... |
ORPHA:178303 |
Orofacial Cleft 15 |
|
Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft palate, Palate fis... |
OMIM:616788 |
Cockayne Syndrome A |
|
Dental malocclusion, Sparse hair, Cryptorchidism, Retinal pigment epithelial mottling, Dry hair, ... |
OMIM:216400 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Thick eyebrow, Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Absent eyelashes, Thi... |
ORPHA:228396 |
Acrodysostosis |
|
Open bite, Open mouth, Irregular menstruation, Delayed eruption of teeth, Hypoplasia of the maxil... |
ORPHA:950 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Microdontia, Hypoplasia of the maxill... |
ORPHA:1307 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Thin upper lip vermilion, Open mouth |
OMIM:619149 |
Crouzon Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Dysgerminoma, Dental crowding, Mandibular prognathia |
OMIM:123500 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials, Long eyelashes |
OMIM:617523 |
Short Syndrome |
|
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... |
OMIM:269880 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Abnormality of visual evoked potentials, Failure to thrive in infancy, Choreoathetosis,... |
ORPHA:702 |
Martin-Probst Syndrome |
|
Dental malocclusion, Chordee, Wide mouth, Malar flattening, Micrognathia, Hypoplastic nipples, Hy... |
OMIM:300519 |
Non-Specific Syndromic Intellectual Disability |
|
High palate, Narrow mouth, Papilledema, Micrognathia, Frontal upsweep of hair, Thin vermilion bor... |
ORPHA:528084 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Abnormality of visual evoked potentials, Hypopigmentation of hair, Hypoplasia of... |
ORPHA:79431 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:166300 |
Hamamy Syndrome |
|
Hypoparathyroidism, Dental malocclusion, High palate, Wide mouth, Sparse hair, Sparse eyebrow, Sp... |
OMIM:611174 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak |
OMIM:167730 |
Jackson-Weiss Syndrome |
|
Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1540 |
Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Wide mouth, Sparse eyebrow, Short philtrum, Long philtrum, Optic atrophy, Do... |
OMIM:616737 |
Elsahy-Waters Syndrome |
|
High palate, Dental malocclusion, Supernumerary tooth, Thick eyebrow, Malar flattening, Increased... |
OMIM:211380 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Everted lower lip vermilion, Long philtrum, Anterior open-bite malocclusion, Synophr... |
OMIM:617877 |
Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Abnormality of visual evoked potentials, Optic atrophy, Tremor, Focal dys... |
ORPHA:52368 |
Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Micrognathia, Hypoplasia of the maxilla, Breast hypoplasia, Cryptorchidism, Thick l... |
OMIM:613804 |
Phelan-Mcdermid Syndrome |
|
High palate, Dental malocclusion, Thick eyebrow, Poor eye contact, Malar flattening, Micrognathia... |
OMIM:606232 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Dental malocclusion, Narrow mouth, Sparse hair, Cleft palate, Micrognathia, Abnormal... |
ORPHA:251028 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Aplasia of the eccrine sweat glands, Conical incisor, Sparse hair |
OMIM:300291 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Retinopathy, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Pde4D Haploinsufficiency Syndrome |
|
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... |
ORPHA:439822 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... |
OMIM:601499 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Low posterior hairline, Cho... |
OMIM:600122 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... |
ORPHA:2334 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse eyeb... |
OMIM:616202 |
Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning... |
OMIM:612109 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... |
OMIM:170390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Micrognathia, Short philtrum, Impaired social interactions, Deep philtrum, Hypoplasi... |
OMIM:309520 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... |
ORPHA:364577 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
High palate, Short nail, Retrognathia, Open mouth, Abnormal social behavior, Delayed eruption of ... |
ORPHA:1675 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cherry red spot of the macula, Short stature, Postnatal growth reta... |
ORPHA:309246 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, Micrognathia, High palate |
OMIM:617258 |
Angelman Syndrome |
|
Wide mouth, Fair hair, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the ma... |
OMIM:105830 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Dental malocclusion, Selective tooth agenesis, Fragile teeth, Hypodonti... |
ORPHA:2959 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:861 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Long philtrum, Anophthalmia, Hypoplasia of the maxilla, Abnormal vitreous hu... |
ORPHA:1101 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Absent eyebrow, Sparse hair, Open bite, Open mouth, Micrognathi... |
OMIM:115150 |
Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Aplasia/Hypoplas... |
ORPHA:782 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion, Cryptorchidism |
OMIM:310400 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Malar flattening, Long philtrum, Delayed eruption of teeth, Thi... |
OMIM:612921 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Hypoplasia of ... |
ORPHA:3044 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Dental crowding,... |
OMIM:210600 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Hypoplasia of the zygo... |
ORPHA:245 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, High palate, Thick eyebrow, Patchy alopecia, Micrognathia, Diastema, Furrowed ton... |
OMIM:300534 |
Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
Cockayne Syndrome B |
|
Dental malocclusion, Abnormal hair morphology, Sparse hair, Cryptorchidism, Dry hair, Pigmentary ... |
OMIM:133540 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Cryptorchidism, Hypodontia, Thin vermilion border, Abnormality of the den... |
ORPHA:289 |
Larsen-Like Syndrome |
|
Dental malocclusion, Cleft palate, Malar flattening |
OMIM:608545 |
Oliver Syndrome |
|
High palate, Dental malocclusion, Thick eyebrow, Supernumerary nipple, Short philtrum, Mandibular... |
ORPHA:2920 |
Micro Syndrome |
|
Generalized hirsutism, Abnormality of retinal pigmentation, Short stature, Retinal coloboma, Abno... |
ORPHA:2510 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... |
OMIM:615546 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Cryptorchidism, Narrow mouth |
ORPHA:2115 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Maxillary lateral incisor microdontia, Abnormality of hair texture, Thick ey... |
ORPHA:73223 |
Carpenter Syndrome 1 |
|
High palate, Persistence of primary teeth, Malar flattening, Micrognathia, Agenesis of permanent ... |
OMIM:201000 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Macroglossia, Abnormality of the dentition, Hypoplasia of the zygomatic bone, Car... |
ORPHA:1798 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Cryptorchidism |
OMIM:601095 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Menorrhagia, Hypoplasia of the fovea, Ocular albinism |
OMIM:614073 |
Cockayne Syndrome |
|
Retinal degeneration, Dry hair, Retinal dystrophy, Carious teeth, Optic atrophy, Optic disc pallo... |
ORPHA:191 |
Hermansky-Pudlak Syndrome 11 |
|
Ocular albinism, Fair hair, Menorrhagia, Hypoplasia of the fovea, Gingival bleeding, Albinism |
OMIM:619172 |
Aicardi Syndrome |
|
Cleft upper lip, Abnormality of retinal pigmentation, Cleft palate, Prominence of the premaxilla,... |
ORPHA:50 |
Mohr Syndrome |
|
High palate, Accessory oral frenulum, Agenesis of central incisor, Malar flattening, Cleft palate... |
OMIM:252100 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Bull's eye maculopathy, Hypertrichosis, Low anterior hairline, Thick eyebrow, Decrea... |
OMIM:213980 |
Kabuki Syndrome 2 |
|
High palate, Dental malocclusion, Hirsutism, Hypodontia, Cleft palate, Micrognathia, Long eyelash... |
OMIM:300867 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Abnormality of visual evoked potentials, Short stature |
ORPHA:1933 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Cleft palate, Malar flattening, Micrognathia, Hypoplasia of the maxilla |
ORPHA:79113 |
Noonan Syndrome 4 |
|
Dental malocclusion, Wide mouth, Cryptorchidism, Sparse eyebrow, Thick vermilion border, High ant... |
OMIM:610733 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Tooth agenesis, Supernumerary nipple, Cleft palate, Open bite, Open mouth, O... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Tooth agenesis, Supernumerary nipple, Cleft palate, Open bite, Open mouth, O... |
ORPHA:352665 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
7Q11.23 Microduplication Syndrome |
|
High palate, Dental malocclusion, Retrognathia, Micrognathia, Short philtrum, Thin vermilion bord... |
ORPHA:96121 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Testicular atrophy, Cryptorchidism, Cleft palate, Hypodontia, Elevated circulati... |
OMIM:305400 |
Apert Syndrome |
|
Narrow palate, Ovarian neoplasm, Cleft palate, Delayed eruption of teeth, Bifid uvula, Optic atro... |
ORPHA:87 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Cleft palate, Hypoplasia of the maxilla, Malar flattening |
OMIM:108721 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Narrow palate, Blepharospasm, Cleft palate, Open bite, Abnormal hair patte... |
ORPHA:794 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Elevated circulating growth hormone concentration, Pancreatitis, Abnormal fa... |
ORPHA:562 |
Hermansky-Pudlak Syndrome 8 |
|
Ocular albinism, Menorrhagia, Hypoplasia of the fovea, Optic disc pallor, Albinism, Gingival blee... |
OMIM:614077 |
Van Maldergem Syndrome 1 |
|
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... |
OMIM:601390 |
Martsolf Syndrome 1 |
|
High palate, Low anterior hairline, Tooth malposition, Micrognathia, Hypogonadotropic hypogonadis... |
OMIM:212720 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Hypogonadotropic hypo... |
OMIM:603457 |
Pallister W Syndrome |
|
Agenesis of central incisor, Frontal upsweep of hair, Broad uvula, Agenesis of maxillary central ... |
OMIM:311450 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Failure to thrive, Abnormality of visual evoked potentials |
ORPHA:2971 |
Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Low anterior hairline, Abnormality of the dentition, Coarse hair, Oligodon... |
ORPHA:2095 |
Andersen-Tawil Syndrome |
|
High palate, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Oligodonti... |
ORPHA:37553 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Absent foveal reflex, Ocular albinism, Macular hypoplasia |
OMIM:614075 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Dental malocclusion, Remnants of the hyaloid vascular system, Supernumerar... |
OMIM:300166 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials, Cryptorchidism, Short stature |
ORPHA:314389 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Micrognathia, Malar flattening |
OMIM:608257 |
Frontorhiny |
|
Cleft palate, Bifid tongue, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Widow's peak,... |
ORPHA:391474 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Dental malocclusion, Hirsutism, Persistence of primary teeth, Cleft palate, Delayed ... |
OMIM:305620 |
Warburg Micro Syndrome 2 |
|
Low anterior hairline, Optic atrophy, Undetectable visual evoked potentials, Microphthalmia, Post... |
OMIM:614225 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism,... |
ORPHA:79434 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Abnormal eyelash morphology, Hypoplasia of the maxilla, Bilateral microphthalmos,... |
ORPHA:2399 |
Localized Scleroderma |
|
Dental malocclusion, Abnormal facial skeleton morphology, Patchy alopecia, Abnormality of the den... |
ORPHA:90289 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Metrorrhagia, Menorrhagia, Hypoplasia of the fovea, Albinism |
OMIM:614074 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Optic nerve compression |
OMIM:259730 |
Chediak-Higashi Syndrome |
|
Periodontitis, Ocular albinism, Hypopigmentation of hair, Silver-gray hair, Tremor, Gingivitis, M... |
OMIM:214500 |
Kagami-Ogata Syndrome |
|
Retrognathia, Micrognathia, Long philtrum, Frontal hirsutism, Hypoplasia of the maxilla |
OMIM:608149 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental malocclusion, Narrow palate, Supernumerary tooth, Hypodontia, Retinopathy, Carious teeth, ... |
ORPHA:353281 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Cherry red spot of the macula, Yellow/white lesions of the retina, Hypoplasi... |
ORPHA:93400 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Facial hypertrichosis, Long eyelashes, Hypoplasia of the maxilla, Bila... |
OMIM:180849 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Abnormality of visual evoked potentials, Low anterior hairline, Dystonia |
OMIM:616875 |
Jacobsen Syndrome |
|
Annular pancreas, U-Shaped upper lip vermilion, Microphthalmia, Micrognathia, Optic atrophy, Abno... |
OMIM:147791 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Abnormality of the hairline, Prominence of the premaxilla |
OMIM:614886 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:601152 |
Arboleda-Tham Syndrome |
|
Wide mouth, Narrow mouth, Microretrognathia, Cleft palate, Thin eyebrow, Sparse medial eyebrow, S... |
OMIM:616268 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Thin vermilion border, Broad eyebrow, Long philtrum, Hypoplasia of the maxilla, Smoo... |
ORPHA:481152 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Dental malocclusion, Cleft palate, Long philtrum, Tented upper lip vermilion, Mandib... |
OMIM:618975 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Growth delay, Abnormality of visual evoked potentials |
OMIM:614457 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Microretrognathia, Carious teeth |
OMIM:615560 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathia, Agenesis ... |
OMIM:616894 |
Aicardi Syndrome |
|
Cleft upper lip, Cleft palate, Prominence of the premaxilla, Retinal detachment, Optic disc colob... |
OMIM:304050 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Shor... |
ORPHA:1299 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Periodontitis, Taurodontia, Sparse hair, H... |
ORPHA:1775 |
Schwartz-Jampel Syndrome |
|
High palate, Dental malocclusion, Abnormal eyebrow morphology, Generalized hirsutism, Supernumera... |
ORPHA:800 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Dental malocclusion, Wide mouth, Sparse eyebrow, Short philtrum, Long philtrum, Optic atrophy, Do... |
ORPHA:487796 |
Achromatopsia 2 |
|
Absent foveal reflex, Dull foveal reflex, Retinal thinning, Hypoplasia of the fovea, Peripapillar... |
OMIM:216900 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Dental malocclusion, Microretrognathia, Sparse eyebrow, Alopecia, Sparse eyela... |
OMIM:614008 |
3Mc Syndrome 2 |
|
Cleft upper lip, Torticollis, Cleft palate, Prominence of the premaxilla, Downturned corners of m... |
OMIM:265050 |
Doors Syndrome |
|
High palate, Gingival overgrowth, Low anterior hairline, Macrodontia of permanent maxillary centr... |
ORPHA:79500 |
Ruvalcaba Syndrome |
|
Generalized hirsutism, Abnormality of visual evoked potentials, Delayed puberty, Cryptorchidism, ... |
ORPHA:3121 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Cryptorchidism, S... |
OMIM:613805 |
Marshall-Smith Syndrome |
|
High palate, Hypertrichosis, Gingival overgrowth, Microretrognathia, Thick eyebrow, Sparse hair, ... |
OMIM:602535 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic nerve hypoplasia, Hypoplasia of the maxilla, Optic disc hypoplasia, Hypoplasia of the anter... |
ORPHA:79345 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Short stature, Decreased circulating cortisol level, Abn... |
OMIM:231550 |
Subaortic Stenosis--Short Stature Syndrome |
|
Narrow mouth, Malar flattening, Diastema, Hypoplasia of the maxilla, Microphthalmia, Short upper lip |
OMIM:271960 |
W Syndrome |
|
Agenesis of maxillary central incisor, Broad uvula, Abnormality of the scalp hair, Upper lip pit,... |
ORPHA:2804 |
Microphthalmia With Limb Anomalies |
|
High palate, Hypoplasia of the premaxilla, Abnormal eyebrow morphology, Cleft upper lip, Cleft pa... |
ORPHA:1106 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Long philtrum, Abnormality of the dentition |
OMIM:114620 |
Myhre Syndrome |
|
Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ... |
ORPHA:2588 |
Chand Syndrome |
|
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Hypohidro... |
ORPHA:1401 |
Meier-Gorlin Syndrome 3 |
|
Narrow mouth, Microretrognathia, Sparse axillary hair, Micrognathia, Sparse pubic hair, Breast hy... |
OMIM:613803 |
Hajdu-Cheney Syndrome |
|
High palate, Dental malocclusion, Hirsutism, Premature loss of teeth, Thick eyebrow, Short nail, ... |
OMIM:102500 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Dental malocclusion, Narrow mouth, Triangular mouth, Cleft palate, Micrognathia, Lon... |
OMIM:265000 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Growth delay |
ORPHA:485421 |
Peters-Plus Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Retinal coloboma, Micrognathia, Thin vermilion bor... |
OMIM:261540 |
Apert Syndrome |
|
Dental malocclusion, Narrow palate, Malar flattening, Cleft palate, Delayed eruption of teeth, Bi... |
OMIM:101200 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft palate, Sparse eyebrow, Facial hirsutism, Microdontia, Carious teeth, Hypoplasia of the max... |
OMIM:604292 |
Pfeiffer Syndrome |
|
High palate, Mandibular prognathia, Hypoplasia of the maxilla, Dental crowding |
OMIM:101600 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Dental malocclusion, Narrow palate, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:182212 |
Robinow Syndrome |
|
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... |
ORPHA:97360 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Dental malocclusion, Decreased response to growth hormone stimulation test, Delay... |
ORPHA:1855 |
X-Linked Recessive Ocular Albinism |
|
Abnormal macular morphology, Ocular albinism, Hypoplasia of the fovea |
ORPHA:54 |
Goldberg-Shprintzen Syndrome |
|
Thick eyebrow, Sparse hair, Everted lower lip vermilion, Short philtrum, Hypoplasia of the maxill... |
OMIM:609460 |
Turnpenny-Fry Syndrome |
|
Sparse scalp hair, Dental malocclusion, High palate, Narrow mouth, Torticollis, Malar flattening,... |
OMIM:618371 |
Stickler Syndrome |
|
Cleft upper lip, Tooth agenesis, Malar flattening, Cleft palate, Open bite, Micrognathia, Glossop... |
ORPHA:828 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia |
OMIM:615219 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Dental malocclusion, Wide mouth, Narrow palate, Cryptorchidism, Deep philtrum, Widow... |
OMIM:227330 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypoplasia of the fovea, Optic ner... |
ORPHA:79432 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse hair, Cleft palate, Sparse eyebrow, Microdontia, Carious teeth, Hypoplasia of the maxilla,... |
OMIM:129900 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Intention tremor |
ORPHA:309263 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Dental malocclusion, Cleft upper lip, Paranasal sinus hypoplasia, Cleft palate, Micr... |
OMIM:300373 |
Focal Dermal Hypoplasia |
|
Cleft upper lip, Dental malocclusion, Sparse hair, Brittle hair, Supernumerary nipple, Patchy alo... |
OMIM:305600 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Aniridia 1 |
|
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Retinal vascular... |
OMIM:106210 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of visual evoked potentials, Dystonia |
ORPHA:35069 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Breast ... |
ORPHA:2554 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Microphthalmia, Hyaloid vascular remnant and retrolental... |
ORPHA:91495 |
Cln5 Disease |
|
Tremor, Abnormality of visual evoked potentials |
ORPHA:228360 |
Ctcf-Related Neurodevelopmental Disorder |
|
Hypertrichosis, Narrow mouth, Thick eyebrow, Macrodontia of permanent maxillary central incisor, ... |
ORPHA:363611 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula, Microphthalmia |
OMIM:601552 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypodontia, Decreased response to growth hormone stimulation test, Short philtrum, Oligodontia, M... |
OMIM:180500 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Retinal hemorrhage, ... |
OMIM:609049 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia, Primary amenorrhea |
ORPHA:2975 |
Acrofacial Dysostosis, Cincinnati Type |
|
Cleft palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch |
OMIM:616462 |
Ablepharon Macrostomia Syndrome |
|
Wide mouth, Absent eyebrow, Sparse hair, Thin vermilion border, Abnormal hair pattern, Microdonti... |
ORPHA:920 |
Craniosynostosis And Dental Anomalies |
|
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, Papilledema, Delayed erupti... |
OMIM:614188 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Short eyelashes, Micrognathia, Hyperplasia of the maxilla, Long ... |
OMIM:612731 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Distal Monosomy 19P13.3 |
|
Thick eyebrow, Cleft palate, Alopecia, Short philtrum, Hypoplasia of the maxilla |
ORPHA:96129 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Supernumerary maxillary incisor, Bilateral... |
ORPHA:199302 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Wide mouth, Sparse hair, Sparse eyebrow, Short philtrum, Long eyelashes, Mandibular prognathia, A... |
OMIM:619841 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Periodontitis, Hypoplasia of the maxilla, Malar flattening |
OMIM:231070 |
Meier-Gorlin Syndrome 1 |
|
High palate, Narrow mouth, Cleft palate, Micrognathia, Microdontia, Long eyelashes, Hypoplasia of... |
OMIM:224690 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Low anterior hairline |
ORPHA:480898 |
Weill-Marchesani Syndrome 1 |
|
Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abnormality of de... |
OMIM:277600 |
Mogs-Cdg |
|
Hydrocele testis, Hirsutism, Fair hair, Alopecia, Abnormality of visual evoked potentials, Hypoth... |
ORPHA:79330 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Abnormality of visual evoked potentials |
ORPHA:206443 |
Oculocutaneous Albinism |
|
Ocular albinism, Hypopigmentation of hair, Hypoplasia of the fovea, White eyebrow, White eyelashe... |
ORPHA:55 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Dystonia |
ORPHA:309256 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hydrocele testis, Dental malocclusion, High palate, Narrow palate, Supernumerary tooth, Hypodonti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hydrocele testis, Dental malocclusion, High palate, Narrow palate, Supernumerary tooth, Hypodonti... |
ORPHA:353277 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Gingival overgrowth, Hirsutism, Micrognathia, Delayed eruption of teeth, Hypoplasia of the maxilla |
OMIM:259600 |
Branchiooculofacial Syndrome |
|
Cleft upper lip, Premature graying of hair, Sparse hair, Malar flattening, Cleft of chin, Supernu... |
OMIM:113620 |
Zttk Syndrome |
|
High palate, Narrow mouth, Sparse eyebrow, Thin vermilion border, Abnormality of the dentition, B... |
OMIM:617140 |
Infantile Krabbe Disease |
|
Opisthotonus, Failure to thrive, Abnormality of visual evoked potentials, Cachexia |
ORPHA:206436 |
Van Den Ende-Gupta Syndrome |
|
High palate, Abnormal eyebrow morphology, Narrow mouth, High, narrow palate, Malar flattening, Cl... |
OMIM:600920 |
White-Sutton Syndrome |
|
Sparse hair, Rod-cone dystrophy, Short stature, Optic nerve hypoplasia, Abnormality of visual evo... |
OMIM:616364 |
Metachromatic Leukodystrophy, Adult Form |
|
Intention tremor, Abnormality of visual evoked potentials, Optic atrophy, Dystonia, Neoplasm of t... |
ORPHA:309271 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Narrow mouth, Hypoplasia of the maxilla, Irregular dentition |
ORPHA:314679 |
Lacrimoauriculodentodigital Syndrome |
|
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Xerostomia, Carious teeth, Ena... |
OMIM:149730 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, White hair |
OMIM:203100 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Dental malocclusion, Narrow mouth, Malar flattening, Abnormality of dental eruption,... |
OMIM:211910 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Cleft palate, Hypoplasia of the maxilla, Hypoplasia of the fron... |
ORPHA:306542 |
Myhre Syndrome |
|
Narrow mouth, Thick eyebrow, Sparse hair, Malar flattening, Cleft palate, Short philtrum, Cleft l... |
OMIM:139210 |
Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism |
ORPHA:2462 |
Frank-Ter Haar Syndrome |
|
High palate, Dental malocclusion, Gingival overgrowth, Wide mouth, Micrognathia, Broad alveolar r... |
OMIM:249420 |
Coffin-Lowry Syndrome |
|
High palate, Dental malocclusion, Narrow palate, Thick eyebrow, Hypodontia, Everted lower lip ver... |
OMIM:303600 |
Friedreich Ataxia |
|
Optic atrophy, Abnormality of visual evoked potentials |
OMIM:229300 |
Williams Syndrome |
|
Cholelithiasis, Wide mouth, Abnormal social behavior, Microdontia, Carious teeth, Tremor, Polycys... |
ORPHA:904 |
Knobloch Syndrome 1 |
|
Chorioretinal atrophy, Retinal detachment, Attenuation of retinal blood vessels, Vitreoretinopath... |
OMIM:267750 |
Bartsocas-Papas Syndrome 1 |
|
Sparse scalp hair, Cleft upper lip, Absent eyebrow, Cleft palate, Alopecia, Micrognathia, Alopeci... |
OMIM:263650 |
Weill-Marchesani Syndrome 2 |
|
High palate, Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abno... |
OMIM:608328 |
Greenberg Dysplasia |
|
Retrognathia, Micrognathia, Neonatal death, Pancreatic islet-cell hyperplasia, Hypoplasia of the ... |
OMIM:215140 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Narrow mouth, Macroglossia, Retrognathia, Micrognathia, Peripheral retinal avascularization, Shor... |
ORPHA:96334 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Abnormality of visual evoked potentials, Hypopigmentation of hair, Long eyelashe... |
ORPHA:79430 |
Fraser Syndrome 1 |
|
Cleft upper lip, Dental malocclusion, Extension of hair growth on temples to lateral eyebrow, Abs... |
OMIM:219000 |
Osteogenesis Imperfecta |
|
Abnormal dental enamel morphology, Dental malocclusion, Dentinogenesis imperfecta, Micrognathia, ... |
ORPHA:666 |
Monosomy 22Q13.3 |
|
Dental malocclusion, Thick eyebrow, Malar flattening, Hypohidrosis, Long eyelashes, Dental crowding |
ORPHA:48652 |
Carpenter Syndrome 2 |
|
High palate, Dental malocclusion, Low anterior hairline, Narrow palate, Cryptorchidism, Sparse ey... |
OMIM:614976 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Malar flattening, Bifid uvula, Bilateral cleft lip and p... |
OMIM:157170 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Thick eyebrow, Brittle hair, Retrognathia, Short uvula, ... |
OMIM:619539 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Abnormality of visual evoked potentials |
OMIM:203700 |
Fraser Syndrome |
|
High palate, Dental malocclusion, Cleft upper lip, Bifid tongue, Abnormal hair pattern, Anophthal... |
ORPHA:2052 |
Bloom Syndrome |
|
Hypertrichosis, Malar flattening, Decreased fertility in females, Agenesis of maxillary lateral i... |
OMIM:210900 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Panhypopituitarism, Bilateral cleft lip and palate, Median cleft li... |
OMIM:610828 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Noonan Syndrome 1 |
|
High palate, Dental malocclusion, Woolly hair, High, narrow palate, Cleft palate, Micrognathia, M... |
OMIM:163950 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Micrognathia, Bifid uvula, Cleft mand... |
OMIM:268305 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Narrow mouth, Cleft palate, Micrognathia, Oral cleft, Thyroid hypop... |
ORPHA:2166 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Hypoplasia o... |
OMIM:101400 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Abnormality of visual evoked potentials, Tremor, Dystonia, Neopl... |
ORPHA:512 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic neuropathy, Abnormal retinal vascular morphology, Resting tremor, Hypermyel... |
ORPHA:909 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Sparse eyebrow, Cleft palate, Thin vermilion border, Optic nerve hypoplasia, Short philtrum, Subm... |
ORPHA:500150 |
Neurofaciodigitorenal Syndrome |
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Hypoplasia of the premaxilla, Abnormal oral mucosa morphology, Abnormality of the philtrum, Mandi... |
ORPHA:2673 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Dental malocclusion, Hypertrichosis, Wide mouth, Gingival overgrowth, Supernumerary nipple, Cleft... |
OMIM:312870 |
Aarskog Syndrome, Autosomal Dominant |
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Cleft upper lip, Cleft palate, Long philtrum, Curved linear dimple below the lower lip, Oral clef... |
OMIM:100050 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of hair texture, Abnormality of visual evoked potentials, Tremor, Optic nerve compres... |
ORPHA:667 |
Floating-Harbor Syndrome |
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Wide mouth, Persistence of primary teeth, Short philtrum, Oligodontia, Microdontia, Carious teeth... |
ORPHA:2044 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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High palate, Micrognathia, Prominence of the premaxilla |
OMIM:614437 |
Williams-Beuren Syndrome |
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Dental malocclusion, Hypodontia, Malar flattening, Long philtrum, Microdontia, Hypothyroidism, Re... |
OMIM:194050 |
Primrose Syndrome |
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Sparse scalp hair, High palate, Narrow mouth, Malar flattening, Absent facial hair, Increased siz... |
OMIM:259050 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Decreased body weight |
ORPHA:258 |
Aneurysm-Osteoarthritis Syndrome |
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High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Singleton-Merten Syndrome 1 |
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Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, High an... |
OMIM:182250 |
Microphthalmia, Syndromic 1 |
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High palate, Cleft upper lip, Tooth malposition, High, narrow palate, Anophthalmia, Optic disc co... |
OMIM:309800 |
Loeys-Dietz Syndrome 3 |
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High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Craniofacial Microsomia |
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Cleft upper lip, Wide mouth, Transverse facial cleft, Malar flattening, Cleft palate, Micrognathi... |
OMIM:164210 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pancreatic cysts, Hypertensive retinopathy, Papilledema, Macular edema,... |
ORPHA:892 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla |
OMIM:300106 |
Multiple Myeloma |
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Weight loss |
ORPHA:29073 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma |
OMIM:193300 |
Colorectal Cancer |
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OMIM:114500 |
Myeloma, Multiple |
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OMIM:254500 |