Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
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 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... |
OMIM:616108 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Filippi Syndrome |
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Cryptorchidism, Optic atrophy, Serrated incisors, Thin vermilion border, Short philtrum, Hypodont... |
OMIM:272440 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Primary Condylar Hyperplasia |
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Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Persistent Placoid Maculopathy |
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Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Foveal Hypoplasia 1 |
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Hypoplasia of the fovea |
OMIM:136520 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Hypopigmentation of the fundus, Albinism |
OMIM:606574 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Tremor, Optic atrophy, Premature graying of hair, Abnormal optic nerve ... |
ORPHA:33445 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Micrognathia, Optic atrophy, Hypoplasia of the retina, Everted lower lip vermili... |
OMIM:253280 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Rubinstein-Taybi Syndrome 2 |
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Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsutism, Dental malocclusion, N... |
OMIM:613684 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Liang-Wang Syndrome |
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Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... |
ORPHA:370097 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Albinism, Oculocutaneous, Type V |
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Hypoplasia of the fovea, Albinism |
OMIM:615312 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Optic atrophy, T... |
OMIM:618737 |
Trichothiodystrophy 9, Nonphotosensitive |
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Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... |
OMIM:619692 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas... |
OMIM:216550 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma... |
ORPHA:436245 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Optic atrophy, Talon cusp, Cleft palat... |
OMIM:605282 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... |
ORPHA:166108 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrod... |
OMIM:615502 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Cleft palate, ... |
ORPHA:90653 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ... |
OMIM:617406 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Dental malocclusion, S... |
ORPHA:2471 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Cherubism |
|
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... |
OMIM:118400 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Pigmen... |
OMIM:253250 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal... |
OMIM:620157 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodontia, Widely sp... |
OMIM:601216 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of hair |
OMIM:619165 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:618292 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
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Hydrocele testis, Sparse scalp hair, High anterior hairline, Notched primary central incisor |
OMIM:620062 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... |
OMIM:614564 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Fair hair |
OMIM:113750 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Conica... |
OMIM:602400 |
Craniosynostosis 3 |
|
Low anterior hairline, Dental malocclusion |
OMIM:615314 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid... |
OMIM:618067 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Nail dystrophy, Narrow m... |
OMIM:246560 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Albinism |
OMIM:300600 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... |
OMIM:241310 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Dental malocclusion |
OMIM:615541 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Marshall Syndrome |
|
Retinal detachment, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Ab... |
ORPHA:560 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Optic atrophy, Dental ma... |
OMIM:618727 |
Intermediate Osteopetrosis |
|
Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Osteosclerosis of ... |
ORPHA:210110 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Cryptorchidism, Synophrys, Downtur... |
OMIM:613792 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... |
OMIM:615108 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Thin upper lip vermilion, Sparse eyelashes, Exaggerated cupid's bow, Highly ar... |
OMIM:619293 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat... |
OMIM:610883 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ... |
ORPHA:352731 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Ovarian neoplasm, Long ey... |
OMIM:617883 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxi... |
ORPHA:2409 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Fine hair,... |
OMIM:257980 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... |
OMIM:620114 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... |
ORPHA:61 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... |
OMIM:615109 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size |
ORPHA:93950 |
Marshall Syndrome |
|
Retinal detachment, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermi... |
OMIM:154780 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Highly arched eyebrow, Open bite, Synophrys, Abnormality of dental eruptio... |
ORPHA:1327 |
Mepan Syndrome |
|
Axial dystonia, Limb dystonia, Hemidystonia, Dystonia, Abnormality of visual evoked potentials, F... |
ORPHA:508093 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Optic atrophy, Micrognathia |
OMIM:607196 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Frontal balding |
ORPHA:93945 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Hypopigmentation of the fundus |
ORPHA:178333 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Thick vermilion border, Sh... |
ORPHA:364028 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea |
OMIM:264270 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Broad eyebrow |
OMIM:618302 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Widely-sp... |
OMIM:136760 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cachexia |
ORPHA:1389 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... |
ORPHA:193 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Optic atrophy, Low anterior hairline, Dent... |
ORPHA:329178 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Optic atrophy, Abnormal palate morphology |
ORPHA:93262 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Dental malocclusion |
OMIM:608940 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Bilateral cryptorchidism, Dystonia, Macrodontia of permanent maxillary centr... |
ORPHA:466722 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o... |
ORPHA:438216 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors |
ORPHA:397973 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Hyp... |
OMIM:150400 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, Patchy alopecia, High palate, Decreased testicular size |
ORPHA:85279 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Delayed eruption of teeth, Supernumerary n... |
OMIM:308300 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Cryptorchidism, Thick lower lip vermilion, Optic atrophy, Orofacial cleft, Pre... |
OMIM:123450 |
Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... |
ORPHA:2751 |
Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... |
ORPHA:2563 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion, Dental mal... |
ORPHA:85321 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Familial Benign Copper Deficiency |
|
Early balding, Short stature, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Micrognathia, Carious tee... |
OMIM:190350 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... |
OMIM:158350 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia |
ORPHA:2185 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Cryptorchidism, Abnormalit... |
ORPHA:915 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... |
ORPHA:238468 |
Muenke Syndrome |
|
High palate, Low anterior hairline, Malar flattening, Dental malocclusion |
OMIM:602849 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin... |
ORPHA:363444 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Choreoathetosis, High palate, Chorio... |
OMIM:234100 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum |
ORPHA:261295 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Red hair, Hypopigmentation of the fu... |
OMIM:203200 |
Isolated Aniridia |
|
Aniridia, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Sclerosteosis 1 |
|
Mandibular prognathia, Papilledema, Optic atrophy, Dental malocclusion, Facial palsy secondary to... |
OMIM:269500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Absent eyelashes... |
OMIM:106260 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:616648 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Dystonia |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 83 |
|
Hypoplasia of the fovea, Highly arched eyebrow, Synophrys, Long philtrum, High anterior hairline |
OMIM:618744 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... |
ORPHA:50814 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption... |
ORPHA:763 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... |
OMIM:305100 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Craniofacial hyperostosis, Abnorm... |
ORPHA:192 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Opti... |
OMIM:101800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate |
OMIM:300676 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Optic atrophy, Narrow palate |
ORPHA:207 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Limb tremor, Wide mouth, Mac... |
OMIM:105830 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Abnorma... |
ORPHA:1215 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Tremor, Low anterior hairline, Limb tremor, High palate |
OMIM:218000 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth |
ORPHA:1529 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Micrognathia, ... |
OMIM:209885 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Fine hair, Hig... |
ORPHA:3079 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Open mouth, Dental malocclusion |
OMIM:619149 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Abnormal hair whorl, Optic atrophy, Cleft palate |
OMIM:614261 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, High palate, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth |
ORPHA:2412 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Delayed eruption of teeth, Cryptorchidism, Gingival overgrowth, Narrow palate, C... |
OMIM:235510 |
Cockayne Syndrome A |
|
Mandibular prognathia, Anhidrosis, Dry hair, Retinal atrophy, Delayed eruption of primary teeth, ... |
OMIM:216400 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Choreoathetosis, Dystonia, Abnormality of visual evoked p... |
ORPHA:702 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Highly arched eyebrow, Absent eyelashes, Hypoplasia of the maxilla, Thick verm... |
ORPHA:228396 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, H... |
ORPHA:178303 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Optic atrophy, High palate, Dy... |
OMIM:123500 |
Hamamy Syndrome |
|
Hypoparathyroidism, Thin upper lip vermilion, Sparse eyelashes, Micrognathia, Sparse eyebrow, Cry... |
OMIM:611174 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Microphthalmia, Widow's peak, Hypoplasia of the maxilla |
OMIM:167730 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Optic... |
OMIM:616737 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Optic atrophy, Focal dystonia, Dystonia, Oromandibular dystonia, Ab... |
ORPHA:52368 |
Martin-Probst Syndrome |
|
Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Chordee... |
OMIM:300519 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Micrognathia |
OMIM:617258 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, High palate, Narrow m... |
ORPHA:1307 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... |
ORPHA:251028 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadi... |
ORPHA:2959 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Bilateral cryptorchid... |
OMIM:211380 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Open... |
ORPHA:950 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of perma... |
OMIM:616202 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Short philtrum, Everted lower l... |
OMIM:601499 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,... |
OMIM:613804 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Retinopathy, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, Micrognathia, ... |
OMIM:170390 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Hypodonti... |
ORPHA:782 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
Short Syndrome |
|
Delayed eruption of teeth, Rieger anomaly, Micrognathia, Dental malocclusion, Downturned corners ... |
OMIM:269880 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Short mandibular rami, Morning glory anomaly, Chorio... |
OMIM:612109 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Absent eyelashes, Op... |
OMIM:115150 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... |
OMIM:617877 |
Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft pal... |
ORPHA:245 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Dental malocclusion, Cle... |
OMIM:210600 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Deep philtrum, Abnormal social behavior, High palate, Long... |
ORPHA:1675 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t... |
ORPHA:861 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... |
OMIM:309520 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Fin... |
ORPHA:444072 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, High palate, Dental malocclusion |
OMIM:310400 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Dental malocclusion, Hypohidrosis, High palate, Long eyelashes, Widely spaced teeth... |
OMIM:606232 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse pubic hair, Hypopla... |
ORPHA:3044 |
Larsen-Like Syndrome |
|
Malar flattening, Dental malocclusion, Cleft palate |
OMIM:608545 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:615546 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Long eyelashes, Low posterior hairline |
OMIM:617523 |
Cockayne Syndrome B |
|
Mandibular prognathia, Anhidrosis, Dry hair, Delayed eruption of primary teeth, Abnormal hair mor... |
OMIM:133540 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow pala... |
ORPHA:1101 |
Oliver Syndrome |
|
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, High palate, Short philtrum, Th... |
ORPHA:2920 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:289 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Cryptorchidism, Optic atrophy, Retinal colobo... |
ORPHA:2510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Hypoplasia of the... |
OMIM:300534 |
Kabuki Syndrome 2 |
|
Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palat... |
OMIM:300867 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bull's eye maculopathy, Highly arched eyebrow, Decreased response to growth hormone stimulation t... |
OMIM:213980 |
Harrod Syndrome |
|
Cryptorchidism, Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Hirsutism, Absent lower eyelashes, Thin vermilion ... |
OMIM:620370 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Rieger anomaly |
OMIM:109120 |
Cockayne Syndrome |
|
Dry hair, Retinal arteriolar constriction, Retinal degeneration, Intention tremor, Retinal atroph... |
ORPHA:191 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Persistence of primary teeth, Optic atro... |
OMIM:201000 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... |
OMIM:608156 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Dental malocclusi... |
ORPHA:73223 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening |
ORPHA:79113 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Supernumerary ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Supernumerary ... |
ORPHA:352665 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft uppe... |
ORPHA:50 |
Noonan Syndrome 4 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion bord... |
OMIM:610733 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Short stature, Generalized hirsutism |
ORPHA:1933 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Menorrhagia, Albinism |
OMIM:614073 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Menorrhagia, Gingival bleeding, Fair hair |
OMIM:619172 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Optic atrophy, Narro... |
ORPHA:87 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Sparse anterior scalp h... |
ORPHA:96121 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Saethre-Chotzen Syndrome |
|
Abnormal hair pattern, Hypoplasia of the maxilla, Cryptorchidism, Open bite, Optic atrophy, Low a... |
ORPHA:794 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Low anter... |
OMIM:212720 |
Vici Syndrome |
|
Hypopigmentation of hair, Median cleft lip, Everted upper lip vermilion, Macular atrophy, Albinis... |
OMIM:242840 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Failure to thrive |
ORPHA:2971 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Synophrys, Cryptorchidism, ... |
OMIM:603457 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Cryptorchidism, Supernumerary tooth, Talon cusp, Den... |
ORPHA:353281 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Hypermyelina... |
OMIM:601812 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Hypoplasia of the maxilla, Thin vermilion border, High palate, Long philtrum, Smoo... |
ORPHA:481152 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular sys... |
OMIM:300166 |
Frontorhiny |
|
Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Cleft palate, Microphthalmi... |
ORPHA:391474 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coarse hair, Olig... |
ORPHA:2095 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... |
ORPHA:90289 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral microphthalmos, Hypoplasia o... |
ORPHA:2399 |
Hermansky-Pudlak Syndrome 6 |
|
Macular hypoplasia, Ocular albinism, Absent foveal reflex, Albinism |
OMIM:614075 |
Osteopetrosis, Autosomal Recessive 3 |
|
Optic nerve compression, Dental malocclusion |
OMIM:259730 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor, Short stature, Cryptorchidism |
ORPHA:314389 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Short stature, Optic atrophy, Adrenocorticotropin receptor ... |
OMIM:231550 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Dental crowding, Micrognathia, ... |
OMIM:614008 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Long philtrum, Frontal hirsutism, Retrognathia |
OMIM:608149 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hypoplasia of the m... |
OMIM:180849 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Prominence of the premaxilla, Abnormality of the hairline |
OMIM:614886 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy, Low anterior hairline, Dystonia |
OMIM:616875 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Menorrhagia |
OMIM:614074 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Protruding tongue, Optic atrophy, Gingival overgrowth, Yellow/white lesi... |
ORPHA:93400 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albinism, Gingivitis, Macular hypoplas... |
OMIM:214500 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Highly arched eyebr... |
OMIM:616268 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy |
OMIM:601152 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Pursed lips, Micrognathia, Narrow mouth, ... |
ORPHA:800 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia ... |
ORPHA:1106 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, ... |
OMIM:616894 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Ab... |
ORPHA:1775 |
Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Brittle hair, Irregular dentition, Opt... |
OMIM:602535 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Syno... |
ORPHA:487796 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Dental malocclusion, Bifid tongue, Cleft palate, Downturned... |
OMIM:616580 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Micrognathia, Abnormal eyelash morphology, Cryptorchidism, Optic at... |
OMIM:147791 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Doors Syndrome |
|
Thin upper lip vermilion, Adrenal hyperplasia, Short lingual frenulum, Abnormality of the dentiti... |
ORPHA:79500 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Abnormality... |
ORPHA:1299 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Optic disc pallor, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:485421 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Highly arched eyebrow, Cleft upper lip, Cryptorchidism... |
OMIM:265050 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cleft upper lip, Chorioretinal lacunae, Optic d... |
OMIM:304050 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... |
OMIM:216900 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:256600 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Delayed puberty, Abnormality of visual evoked potentials, Intrauterine growth ret... |
ORPHA:3121 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Optic disc hypoplasia, Optic n... |
ORPHA:79345 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... |
OMIM:101200 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Thick vermi... |
OMIM:613805 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hig... |
OMIM:265000 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding |
OMIM:101600 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow palate, High... |
OMIM:182212 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Short nail, Micrognathia, Absent frontal sinuses, Cryptorchidism, Synophrys, Denta... |
OMIM:102500 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Sparse axillary hair, Micrognathia, Sparse pubic hair, Cryptorchidism, Hypopla... |
OMIM:613803 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Persistence of primary teeth, Cryptorchidism, Tooth malposition, G... |
ORPHA:97360 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Cryptorchidism, Subm... |
ORPHA:2588 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Hypothyroidism, Dental malocclusion, Decreased response to growth horm... |
ORPHA:1855 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilobate gallbladder, Bilateral cleft lip, Clef... |
OMIM:261540 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Growth delay, Abnormality of visual evoked potentials |
OMIM:614457 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Hypohidrosis, Abnormal oral frenulum morph... |
ORPHA:1401 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Widow's peak, Deep philtrum, Dental malocclusion, Trismus, Narrow palate, Wide mo... |
OMIM:227330 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Menorrha... |
OMIM:614077 |
Stickler Syndrome |
|
Retinal detachment, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, C... |
ORPHA:828 |
Cln5 Disease |
|
Tremor, Abnormality of visual evoked potentials |
ORPHA:228360 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Torticollis, Wide mouth, Long philtrum |
ORPHA:251061 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Submucous cleft har... |
ORPHA:2554 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Mandibular condyle hypoplasia, Ab... |
ORPHA:2975 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal macular morphology |
ORPHA:54 |
Mend Syndrome |
|
Microretrognathia, Micrognathia, Cryptorchidism, High palate, Macular hypoplasia, Smooth philtrum |
OMIM:300960 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Dystonia |
ORPHA:35069 |
Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Brittle hair, Supernumerary nipple, Cleft upper lip, Cry... |
OMIM:305600 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch |
OMIM:616462 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Torticollis, Dental crowding,... |
OMIM:618371 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Highly arched eyebrow, Abnormality of the dentition, Cryptorchidism, Sy... |
ORPHA:363611 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Oligodontia, Short philtrum, Thick v... |
OMIM:609460 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Dystonia, Optic atrophy, Intention tremor |
ORPHA:309263 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Hypoplasia of the maxilla, Fine hair, Wi... |
ORPHA:920 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Microphthalmia, Retrognathia, Malar flattening, Bifid uvula |
OMIM:601552 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Decreased response to growth hormone stimulation test, ... |
OMIM:180500 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Hyperplasia of the... |
OMIM:612731 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Micrognathia, Synoph... |
OMIM:619841 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Hypoplasia of the... |
OMIM:614188 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening |
OMIM:231070 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Trichiasis, Highly arched eyebrow, Micrognathia, Cryptorchidism, Su... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Trichiasis, Highly arched eyebrow, Micrognathia, Cryptorchidism, Su... |
ORPHA:353277 |
Mogs-Cdg |
|
Alopecia, Optic atrophy, Hydrocele testis, Long eyelashes, Dystonia, Abnormality of visual evoked... |
ORPHA:79330 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy, Low anterior hairline |
ORPHA:480898 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Distal Deletion 19P |
|
Alopecia, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow |
ORPHA:96129 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Abnormality of visual evoked potentials |
ORPHA:206443 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, Long eyelashes, High palat... |
OMIM:224690 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Chorioretinal coloboma |
OMIM:615219 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Hirsutism |
OMIM:259600 |
Cerebrofacioarticular Syndrome |
|
Hypoplasia of the maxilla, Irregular dentition, Narrow mouth, Micrognathia |
ORPHA:314679 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Optic atrophy, Dystonia |
ORPHA:309256 |
Infantile Krabbe Disease |
|
Abnormality of visual evoked potentials, Failure to thrive, Cachexia, Opisthotonus |
ORPHA:206436 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Supernumerary nipple, Micrognathia, Cleft upper lip, Cryptorchidism, Lower lip pit,... |
OMIM:113620 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Erup... |
OMIM:166250 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the m... |
OMIM:617140 |
White-Sutton Syndrome |
|
Short stature, Optic nerve hypoplasia, Sparse hair, Abnormality of visual evoked potentials, Intr... |
OMIM:616364 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narr... |
OMIM:600920 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig... |
OMIM:249420 |
Carpenter Syndrome 2 |
|
Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Sparse eye... |
OMIM:614976 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Optic atrophy, Neoplasm of the gallbladder, Abnormality of visual evoked potentials, In... |
ORPHA:309271 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Microspherophakia, Narrow palate |
OMIM:277600 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Widow's peak, Cleft palate, Aplasia/... |
ORPHA:306542 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g... |
OMIM:149730 |
Shprintzen-Goldberg Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Retrognathia |
ORPHA:2462 |
Williams Syndrome |
|
Micrognathia, Tremor, Microdontia, Abnormal social behavior, Hypothyroidism, Abnormal dental morp... |
ORPHA:904 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cryptorchidism, Cleft... |
OMIM:139210 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, White hair, Ocular albinism |
OMIM:203100 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Vitreoretinopathy, Macular hypoplas... |
OMIM:267750 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Highly arched eyebrow, Thick lower lip vermilion, Dental malocclusion, Nar... |
OMIM:303600 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Micrognathia, Bilateral cryptorchi... |
OMIM:263650 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:229300 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Stillbirth, Pancreatic islet-cell hyperplasia, Neonatal ... |
OMIM:215140 |
Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Dental crowding, Cleft upper lip, Absent eyelashes, Cryptorchidism,... |
OMIM:219000 |
Monosomy 22Q13.3 |
|
Dental crowding, Dental malocclusion, Hypohidrosis, Long eyelashes, Malar flattening, Thick eyebrow |
ORPHA:48652 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, Micrognat... |
ORPHA:96334 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Agenesis of maxillary lateral incisor, Azoospermi... |
OMIM:210900 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... |
ORPHA:666 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eye... |
OMIM:619539 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Ocular albinism, Long eyelashes, Abnormal optic nerve... |
ORPHA:79430 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... |
OMIM:157170 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Microspherophakia, Narrow palate, High palate, Tooth malposition |
OMIM:608328 |
Noonan Syndrome 1 |
|
Male infertility, Micrognathia, Cryptorchidism, High, narrow palate, Dental malocclusion, Cleft p... |
OMIM:163950 |
Fraser Syndrome |
|
Anophthalmia, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental mal... |
ORPHA:2052 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Orofacial cleft, Cleft palate, Narrow... |
ORPHA:2166 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, High... |
OMIM:617402 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno... |
OMIM:610828 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal retinal vascular morphology, Optic ... |
ORPHA:909 |
Metachromatic Leukodystrophy |
|
Dystonia, Tremor, Abnormal gallbladder morphology, Neoplasm of the gallbladder, Abnormality of vi... |
ORPHA:512 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Low anterior hairline, Cleft palate, Narrow palate, Mal... |
OMIM:101400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Optic nerve hypoplasia, Sparse eyebrow, Hypoplasia of the maxilla... |
ORPHA:500150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Short nail, Supernumerary nipple, Crypto... |
OMIM:312870 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Retinal arteriolar tortuosity, Thick lower lip vermilion, Dental m... |
OMIM:194050 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Tremor, Growth delay, Abnormality of visual evoked potentials, Optic... |
ORPHA:667 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, High palate, Micrognathia |
OMIM:614437 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Wide mout... |
ORPHA:2044 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Decreased body weight |
ORPHA:258 |
Primrose Syndrome |
|
Sparse scalp hair, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryptorchidism, ... |
OMIM:259050 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Carious teeth,... |
OMIM:182250 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, High, narrow palate, Optic disc c... |
OMIM:309800 |
Loeys-Dietz Syndrome 3 |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Failure to thrive |
OMIM:203700 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth,... |
OMIM:164210 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
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, Pheochromocytoma, Pancreatic cysts |
OMIM:193300 |
Colorectal Cancer |
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OMIM:114500 |
Myeloma, Multiple |
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OMIM:254500 |