Lipedema |
|
Edema |
OMIM:614103 |
Holoprosencephaly 5 |
|
Anteverted nares, Depressed nasal bridge, Syntelencephaly, Alobar holoprosencephaly, Hyperteloris... |
OMIM:609637 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... |
OMIM:147250 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Dandy-Walke... |
OMIM:605627 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip,... |
ORPHA:1791 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Alobar holoprosencephaly, Hypotelorism, Holoprosencephaly, Chorioretin... |
OMIM:157170 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, U-Shaped upper lip vermilion, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:603671 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hy... |
OMIM:610828 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... |
OMIM:611638 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Microglossia, Absent nares, Holopros... |
ORPHA:990 |
Proboscis Lateralis |
|
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, Microcornea, Hig... |
ORPHA:141099 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Hypertelorism, Abnormal pupil morphology, Midli... |
ORPHA:3374 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Holoprosencephaly 14 |
|
Frontal bossing, Ventriculomegaly, Median cleft lip, Anteverted nares, Proboscis, Alobar holopros... |
OMIM:619895 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Non-midlin... |
ORPHA:1104 |
Frontonasal Dysplasia 1 |
|
Cataract, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypertel... |
OMIM:136760 |
Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Facial cleft, Hypotelorism, Aplasia of the nose, Microphthal... |
OMIM:236100 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cyclopia, Ex... |
ORPHA:261236 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Acalvaria |
|
Spina bifida, Hypertelorism, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect |
ORPHA:945 |
Holoprosencephaly |
|
Flat occiput, Anophthalmia, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set eye, A... |
ORPHA:2162 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Non-midline cleft lip, Cl... |
ORPHA:2117 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Hypertelorism, Abnormal exte... |
ORPHA:141091 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Trisomy 18 |
|
Microcornea, Holoprosencephaly, Iris coloboma, Microretrognathia, Spina bifida, Hypertelorism, Es... |
ORPHA:3380 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hyp... |
OMIM:613443 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc... |
OMIM:301043 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Microp... |
ORPHA:324416 |
Triploidy |
|
Cataract, Intestinal malrotation, Micrognathia, Hypertelorism, Hydrocephalus, Meningocele, Non-mi... |
ORPHA:3376 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Hypotelorism, Holoprosencephaly, Microphthalmia, C... |
OMIM:264480 |
Hydrolethalus |
|
Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate... |
ORPHA:2189 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Hydrocephalus,... |
ORPHA:2166 |
Holoprosencephaly 11 |
|
Cleft lip, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, ... |
OMIM:614105 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, High palate, Holoprosenc... |
OMIM:612530 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Hypertelorism, Cleft palate, Proptosis, Holoprosencephaly, Cyclopia |
ORPHA:2165 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Cutis marmorata, Micrognathia, Hypertelorism, Bulbous nose, Hydrocephalus... |
OMIM:614219 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia |
OMIM:600776 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Hypotelorism, Microphthalmia, Ag... |
OMIM:218670 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Hypertelorism, Brachycephaly, Plagiocephaly, High palate, Short philtru... |
OMIM:615433 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:220386 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Microphthalmia, Cutaneous photosensitivity, Agenesis of corpus callos... |
OMIM:616570 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi... |
ORPHA:1832 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia, Agenesis of co... |
OMIM:164180 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Cataract, Hypertelorism, Abnormality iris morphology, Cleft palate, Coloboma, Abno... |
ORPHA:1617 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Encephalocele, Micrognathia, Hypertelorism, Hydrocephalus, Meningocele, An... |
ORPHA:1908 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Depressed nasal bridge, Prematurely aged appearance, Micrognathia, Brachycephaly, Hypot... |
ORPHA:1387 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal... |
OMIM:615524 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, B... |
OMIM:607597 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior encephalocel... |
OMIM:601357 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Thin upper lip vermilion, Bulbous nose, Hypotelorism, Plagiocephaly, Lateral ven... |
OMIM:618330 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Band Heterotopia |
|
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricu... |
OMIM:600348 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Hypertelorism, Parietal foramina, Spina bifida occulta, Brachycep... |
OMIM:616602 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Coloboma, Microphthalmia |
OMIM:600251 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Cataract |
OMIM:615995 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Prominent superficial veins, Narrow nasal ridge, Hypertelorism, Bulbous nose, Hy... |
OMIM:612940 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Bulbous... |
OMIM:613604 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Broad nasal tip, Wide nasal ... |
OMIM:615716 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... |
OMIM:615042 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Hypotelorism, Colpoceph... |
OMIM:620156 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Iris coloboma,... |
ORPHA:861 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Cutis marmor... |
OMIM:614701 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Frontonasal Dysplasia 3 |
|
Hypertelorism, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Cleft palate, Facial ... |
OMIM:613456 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Hypertelorism, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Tr... |
OMIM:614583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Coloboma, ... |
OMIM:613153 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cl... |
ORPHA:250999 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypertelorism, Lateral ventricle dilatati... |
ORPHA:284417 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Underdeveloped nasal alae, Abnormality of the nose, Micrognath... |
ORPHA:1794 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen... |
OMIM:202650 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Erythema, Wide na... |
OMIM:610015 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Micrognathia, Hypertelorism, H... |
OMIM:613544 |
Malan Overgrowth Syndrome |
|
Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Scaphocephaly, Plagiocephaly, Dee... |
ORPHA:420179 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Orofacial cl... |
ORPHA:268249 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Hypertelorism, Brachycephaly, Facial cleft, High palate, Widely spaced teeth, Solit... |
ORPHA:66625 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Brachycephaly, Wide nasal bridge, Cleft palate, Downturned corners o... |
ORPHA:1598 |
Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Depressed nasal bridge, Hyperteloris... |
ORPHA:261344 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Cataract, Iris coloboma, Wide nasal bridge |
ORPHA:79326 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Spina bifida occulta, Brachycephaly, Lateral ventricle dila... |
OMIM:618736 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respirat... |
ORPHA:93274 |
Pontocerebellar Hypoplasia, Type 13 |
|
Thin upper lip vermilion, Anteverted nares, Macrodontia, Hypertelorism, Asthma, Pleural effusion,... |
OMIM:618606 |
Distal Deletion 13Q |
|
Encephalocele, Hypertelorism, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the ey... |
ORPHA:1590 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... |
OMIM:619452 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Hypotelorism, Deeply set eye... |
OMIM:268850 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle... |
OMIM:613885 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Hypertelorism, Bulbous nose, Brachycephaly, Wide... |
OMIM:613174 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopro... |
ORPHA:77298 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Corneal opacity, Hypertelorism, Calvarial skull defect, Hydrocephalus, Facial c... |
ORPHA:1647 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertelorism, Prominent nose, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced... |
OMIM:618916 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Underdeveloped nasal alae, Hypoplasia of the maxilla, Hypertelorism, Wide nasal bridge,... |
ORPHA:306542 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Corneal opacity, Intestinal malrotation, Spina bifida, Micrognathia, Hypertelor... |
ORPHA:99776 |
Non-Distal Duplication 13Q |
|
Micrognathia, Abnormality of the dentition, Hypotelorism, Thin vermilion border, High palate, Eve... |
ORPHA:1702 |
Trisomy 13 |
|
Anophthalmia, Cataract, Median cleft lip, Abnormality of the dentition, Calvarial skull defect, H... |
ORPHA:3378 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Congenital Hydrocephalus |
|
Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macular hypoplasia, Iris coloboma, Ve... |
ORPHA:2185 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Frontal bossing, Thin upper lip vermilion, Anteverted nares, High, narrow p... |
OMIM:612863 |
Tonne-Kalscheuer Syndrome |
|
Prominent nasal bridge, Prominent nose, Micrognathia, Hypertelorism, Velopharyngeal insufficiency... |
OMIM:300978 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Hypertelorism, Depressed nasal ridge, Brachycephaly, Hyp... |
OMIM:618672 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Anophthalmia, Corneal opacity, Cataract, Hydrocephalus, Submucous cleft hard pa... |
ORPHA:899 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Cataract, Developmental cataract, Broad nasal tip |
OMIM:619420 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
6P22 Microdeletion Syndrome |
|
Deeply set eye, Hydrocephalus, Abnormal palate morphology, Hypotelorism |
ORPHA:251046 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Distal Monosomy 7Q36 |
|
Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal calvaria mo... |
ORPHA:1636 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Hypotelorism, Prominent occiput, Hypoxemia, Hypoplasia of the ... |
ORPHA:556955 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Prominent nose, Micrognathia, Partial agenesis of the corpus callosum, Microcornea, Pro... |
OMIM:616171 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism... |
OMIM:617822 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Flat occiput, Decreased response to growth hormone stimulation test, Anteri... |
ORPHA:177907 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Microcornea |
OMIM:251505 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Wide nasal bridge, Hypotelorism, High palate, Broad alveolar ridges, L... |
OMIM:314320 |
Lambotte Syndrome |
|
Hypertelorism, Narrow mouth, Intrauterine growth retardation, Ocular anterior segment dysgenesis,... |
OMIM:245552 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Respiratory insufficiency, Microcornea, Abnormal calvaria morphology, Microphtha... |
ORPHA:2432 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Brachycephaly, W... |
OMIM:613451 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Death in infancy, Neonatal respiratory distress, Tented upper lip vermilio... |
OMIM:618622 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Median cleft lip, Orofacial cleft, Hypotelorism, Holoprosencephaly, Aplasia of the nose, Micropht... |
ORPHA:3186 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation, Micrognathia |
OMIM:618266 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Wide nasal ridge, Hypertelorism, Abnormal subcutaneous... |
ORPHA:487825 |
Alg13-Cdg |
|
Long philtrum, Abnormal lateral ventricle morphology, Anteverted nares, Hypertelorism |
ORPHA:324422 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Brachycephaly, Wide nasal bridge, Hypotelorism, Plagiocephaly, Mild fetal ventricu... |
OMIM:619435 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Deeply set eye, Choanal stenosis, High palate, Death in infancy, A... |
OMIM:615485 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Micrognathia, Bulbous nose, Deep philtrum, Hypoteloris... |
OMIM:613884 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Hypotelorism, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3469 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Micrognathia, Respiratory insufficiency due to muscle weakness, Lateral ventricle ... |
OMIM:618291 |
Frontoocular Syndrome |
|
Prominent nasal bridge, Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Narr... |
OMIM:605321 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Hypotelorism, Multiple suture craniosynostosis, Broad secondary alveolar ridge... |
ORPHA:3369 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Thick upper lip vermilion, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydr... |
OMIM:612651 |
Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathi... |
OMIM:147791 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Microphth... |
ORPHA:139471 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Plagioce... |
OMIM:617751 |
Perching Syndrome |
|
Respiratory distress, High palate, Cyanosis, Depressed nasal bridge |
OMIM:617055 |
Distal Deletion 10Q |
|
Smooth philtrum, Frontal bossing, Thin upper lip vermilion, Prominent nasal bridge, Craniosynosto... |
ORPHA:96148 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Anteverted nares, Micrognathia, Wide nasal bridge, Developmental catara... |
OMIM:600118 |
2Q23.1 Microduplication Syndrome |
|
Thin upper lip vermilion, Dental crowding, Prominent nose, Abnormality of the dentition, Bulbous ... |
ORPHA:313947 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow, Hyp... |
ORPHA:464738 |
Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Natal tooth, Cataract, Carious teeth, Pyloric stenosis, Hypotelorism, Developmental cat... |
OMIM:616395 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Open mouth |
OMIM:616816 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Hypertelorism, Broad nasal tip, Micrognathia, Cleft upper lip, Facial cleft, Cleft palate, Bifid ... |
OMIM:239800 |
Stromme Syndrome |
|
Sclerocornea, Micrognathia, Microcornea, Deeply set eye, Agenesis of corpus callosum, Iris colobo... |
OMIM:243605 |
Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Anteverted nares, Episodic tachypnea, Wide nasal... |
OMIM:608629 |
Halperin-Birk Syndrome |
|
Micrognathia, Aspiration, Developmental cataract, Colpocephaly, Umbilical hernia, High palate, Th... |
OMIM:618651 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Agenesis of corpus callosum |
OMIM:274270 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Brachycephaly, Microcornea, High palate, Narrow mouth, Microphthalmia, Retrognathia |
ORPHA:2528 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormali... |
ORPHA:1515 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micr... |
OMIM:220210 |
Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Hypotelorism, Long philtrum, Trigonocep... |
OMIM:190440 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalu... |
ORPHA:370959 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Deeply set eye, Holoprosencephaly, Hydranencephaly, Intrauterine growth retardation |
ORPHA:2570 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Umbilical herni... |
OMIM:618914 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, Wide nasal bridge, Hypotelorism, High palate, Ventriculomegaly |
OMIM:615760 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Lateral ventricle dilatation,... |
OMIM:301025 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridg... |
ORPHA:488635 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Brachycephaly, Wide nasal bridge, ... |
OMIM:619995 |
Trisomy 18P |
|
Underdeveloped nasal alae, Micrognathia, High, narrow palate, Pyloric stenosis, Wide nasal bridge... |
ORPHA:1715 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Hypertelorism, Hydrocephalus, ... |
OMIM:614424 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation, Respiratory insufficiency |
OMIM:617668 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos |
ORPHA:77299 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Lack of facial subcutaneous fat, Progeroid facia... |
OMIM:614098 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma, Hydrocephalus |
ORPHA:141333 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Micrognathia, Hypertelorism, Lens luxation, Ectopia lentis, Hyp... |
OMIM:218340 |
Cofs Syndrome |
|
Death in infancy, Cataract, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted l... |
ORPHA:1466 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hypertelorism, Cleft upper lip, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho... |
OMIM:613192 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Hypertelori... |
OMIM:619879 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Cataract, Micrognathia, Hypertelorism, Wide nasal bridge, Down... |
ORPHA:93267 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Abnormality of the dentition, Carious teeth, Facial cleft, Abnormal palate mor... |
ORPHA:1786 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Pierre-Robin sequence, W... |
OMIM:611209 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, M... |
ORPHA:1528 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Hypertelorism, Long upper lip, Brachycephaly, Microcornea, Deeply set... |
OMIM:602342 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Hypotelorism, Downturned corners of mouth, Thick ... |
OMIM:618974 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:619033 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Brachycephaly, Plagioc... |
OMIM:617296 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal al... |
ORPHA:228390 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Iris coloboma, Hypertelorism, Cleft upper lip, Wide n... |
OMIM:243310 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morphology, Bra... |
ORPHA:2511 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Glutathionuria |
|
Asthma, Agenesis of corpus callosum, Hypotelorism |
OMIM:231950 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Hypertelorism, Wide nasal brid... |
OMIM:611091 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Frontal bossing, Prominent nasal tip, Thin upper lip vermilion, Depressed ... |
ORPHA:439822 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Frontal bossing, Apnea, Micrognathia, Subependymal cysts, Lateral ventricle dilatation, Inspirato... |
OMIM:600721 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Smooth philtrum, Ventriculomegaly, Cataract, Depressed nasal bridge, Choana... |
OMIM:300968 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Hypertelorism, Thic... |
OMIM:620075 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Cutis marmorata, Broad nasal tip, Dental malocclusion, Hypotelorism, Wi... |
OMIM:619719 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Dorsocervical fat pad, Micrognathia, Hypop... |
ORPHA:391408 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior font... |
ORPHA:3309 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Tongue fasciculations, Respiratory insufficiency, Intercostal muscl... |
OMIM:607596 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cl... |
ORPHA:457279 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Micrognathia, Recurrent upper respiratory tract infections, Lateral ven... |
ORPHA:3078 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Cataract |
ORPHA:588 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hypotelorism, Shallow orbits,... |
OMIM:601812 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Hydrocephalus... |
ORPHA:1914 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Partial agenesis of the corpus callosum, La... |
OMIM:619517 |
Supernumerary Nostril |
|
Choanal atresia, Facial cleft, Developmental cataract, Microcornea, Supernumerary naris, Abnormal... |
ORPHA:141096 |
Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Wide nasal bridge, Hypotelorism |
ORPHA:3366 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Respiratory insufficiency due to muscle weakness, Hydrocephalus... |
OMIM:615249 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:614019 |
Fraser Syndrome 1 |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Choanal stenosis, Abnormality of the anus, Encepha... |
OMIM:219000 |
Hadziselimovic Syndrome |
|
Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Hypotelorism, High palate, U... |
OMIM:612946 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Hypotelorism, Deepl... |
ORPHA:276422 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Brachycephaly, Lateral vent... |
OMIM:619244 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Craniosynostosis, Alobar holoprosencephaly, Hypertelorism, Cleft upp... |
OMIM:615465 |
Amyotrophy, Hereditary Neuralgic |
|
Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Deeply set eye, Long nasal bridge |
OMIM:162100 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Hydrocephalus, Cleft palate, P... |
ORPHA:85284 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip... |
ORPHA:411986 |
Vici Syndrome |
|
Death in infancy, Cataract, Hypertelorism, Hypotelorism, Depressed nasal tip, High palate, Agenes... |
ORPHA:1493 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Depressed nasal bridge, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:619833 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Coach Syndrome 2 |
|
Hydrocephalus, Coloboma, Apneic episodes in infancy, Chorioretinal coloboma, Agenesis of corpus c... |
OMIM:619111 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Depressed nasal bridge, Cutis marmorata, Hypertelorism, Hydrocephalus, Microphth... |
OMIM:602501 |
Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Abnormal facial skeleton morphology, Abnor... |
ORPHA:563612 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Frontal bossing, Wide nose, Ventriculomegaly, Corneal opacity, Cataract, St... |
ORPHA:1052 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Micrognathia, Bulbous nose, Thick lower lip vermilion, Hypotelorism, De... |
OMIM:614104 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Flat occiput, Anteriorly placed anus, Choanal stenosis, High palate, Agenes... |
OMIM:123790 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Lip pit, Hypertelorism, Brachycephaly, Facial cleft, Hypo... |
ORPHA:1236 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Lateral ventricle dilatat... |
ORPHA:79243 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cataract, Anteverted nares, Spina bifida, Hiatus hernia, Cleft uppe... |
OMIM:304050 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed... |
ORPHA:293725 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Prominent superficial blood vessels, Cataract, Narrow nasal ridge, Hypertelorism... |
OMIM:219150 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Hypertelorism, Wide nasal bridge, Prominent o... |
ORPHA:89844 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Smooth philtrum, Prominent nasal bridge, Craniosynostosis, Abnormal occipital ... |
ORPHA:468631 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Te... |
OMIM:614669 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Ventriculomegaly, Occipital encephalocele, Depressed nasal bridge, Apnea, Chroni... |
ORPHA:397715 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Monosomy 13Q14 |
|
Cataract, Prominent nasal bridge, Micrognathia, Hypertelorism, Wide nasal bridge, Holoprosencepha... |
ORPHA:1587 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, C... |
ORPHA:1555 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Trichothiodystrophy |
|
High, narrow palate, Partial agenesis of the corpus callosum, Hypotelorism, Microcornea, Conjunct... |
ORPHA:33364 |
Mosaic Trisomy 1 |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal... |
ORPHA:1692 |
Short Stature-Micrognathia Syndrome |
|
Cataract, Micrognathia, Scaphocephaly, Cleft palate, Hypotelorism, Astigmatism, High palate, Intr... |
OMIM:617164 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Narrow mouth, Wide nasal bridge,... |
ORPHA:1449 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth, ... |
ORPHA:818 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Lobar holoprosencephaly, Prominent occiput, Hypotelorism, Hypoplasia of t... |
OMIM:618500 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Brachycephaly, Wide mouth, Lateral ventricle dilatation, Thick vermilion b... |
ORPHA:85290 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cataract, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Microphthal... |
OMIM:253800 |
Temtamy Syndrome |
|
Convex nasal ridge, Micrognathia, Hypertelorism, Thick lower lip vermilion, Chorioretinal colobom... |
ORPHA:1777 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Smooth philtrum, Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Hypertelorism, Wi... |
OMIM:618659 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Micrognath... |
ORPHA:564 |
Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Decreased response to gro... |
OMIM:146510 |
Cach Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cataract, T2 hypointense thalamus |
ORPHA:135 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Prominent nose, Carious teeth, Micro... |
OMIM:214150 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul... |
OMIM:166750 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hor... |
ORPHA:94065 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteve... |
ORPHA:2791 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, Hypotelorism, Deeply set eye, Short philtrum, Anteverted nares, Depressed nasal bri... |
OMIM:618454 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Long philtrum, Open mouth |
OMIM:617854 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Hypotelorism, Microcornea, Deeply set eye, Broad columella, ... |
ORPHA:2710 |
Holoprosencephaly 4 |
|
Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil... |
OMIM:142946 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Prominent nasal bridge, Dyspnea, Narrow mouth, Abnormal mandible morphol... |
ORPHA:2215 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Frontal bossing, Exaggerated cupid's bow, Narrow nasal ridge, Micrognathia... |
OMIM:619512 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Broad nasal t... |
OMIM:615583 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Hypotelorism, Lobulated tongue, Agenesis of corpus callosu... |
OMIM:249000 |
Steinfeld Syndrome |
|
Bifid uvula, Retinal coloboma, Holoprosencephaly, Aplasia of the nose, Microphthalmia, Iris colob... |
OMIM:184705 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Hypertelorism, Malabs... |
ORPHA:1225 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism,... |
ORPHA:163649 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Anal atresia, Corneal opacity, Optic nerve hypoplasia,... |
OMIM:236670 |
Harrod Syndrome |
|
Cataract, Long nose, Dental malocclusion, Hypotelorism, High palate, Narrow mouth, Intrauterine g... |
ORPHA:2115 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Hypertelorism, Celiac disease, Dysplastic corpus callosum, Bulbous nose, Asthma, Retrognathia, De... |
ORPHA:544488 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Intestinal malro... |
ORPHA:93259 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nos... |
OMIM:206920 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... |
OMIM:604757 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Flat occiput, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Plag... |
ORPHA:300570 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cleft palate, Microc... |
OMIM:610125 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, H... |
ORPHA:261211 |
Cog5-Cdg |
|
Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, High palate, Intrauterine growth... |
ORPHA:263487 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Ventriculomegaly, Cataract, Remnants of the hyaloid vascular syst... |
OMIM:614643 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Hypotelorism, Plagiocephaly, Holoprosencephaly |
ORPHA:2163 |
Coffin-Siris Syndrome 11 |
|
Frontal bossing, Depressed nasal bridge, Cleft soft palate, Hypertelorism, Esophageal atresia, Bu... |
OMIM:618779 |
Schilbach-Rott Syndrome |
|
Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Hypotelorism, Narrow mouth,... |
OMIM:164220 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hypertelorism, Hydroc... |
OMIM:269860 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Weyers Acrofacial Dysostosis |
|
Solitary median maxillary central incisor, Conical tooth, Hypotelorism |
OMIM:193530 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Micrognathia, Hypotelorism, Downturned corners of mouth, Oligodontia... |
OMIM:616817 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hypertelorism,... |
OMIM:616975 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Micrognathia, Hydrocephalus, Depressed nasal ridge, Wide mouth... |
ORPHA:163966 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus ... |
OMIM:207950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Micrognathia, Hypertelorism, Hypotelorism, Wide mouth, High palate, Sh... |
OMIM:300986 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Hypotelorism, High palate, Solitary median maxillary... |
OMIM:602418 |
Frontofacionasal Dysplasia |
|
Cataract, Underdeveloped nasal alae, Hypertelorism, Cleft upper lip, Brachycephaly, Cranium bifid... |
OMIM:229400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Prominent nose, Long nose, Hypo... |
OMIM:300486 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertel... |
ORPHA:1134 |
Ring Chromosome 21 Syndrome |
|
Cutaneous photosensitivity, Holoprosencephaly |
ORPHA:1445 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
High palate, Hypotelorism |
OMIM:616281 |
Galloway-Mowat Syndrome |
|
Hypertelorism, Aqueductal stenosis, Micrognathia, Hiatus hernia, Abnormality of the dentition, Hy... |
ORPHA:2065 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Hypertelorism, Wide nasal bridge, Lateral ven... |
ORPHA:572798 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Prominent nose, Micrognathia, Developmental cataract, Deeply set eye, Death in childhoo... |
OMIM:610756 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Progeroid facial appearan... |
ORPHA:90322 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal calvaria morphology, Hypotelorism |
ORPHA:1952 |
Frontorhiny |
|
Encephalocele, Cataract, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C... |
ORPHA:391474 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Wide nasal bridge |
OMIM:614870 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Anteverted nares, Macrodontia, Hypertelorism, Plagiocephaly, Downturned corners of mouth, Colpoce... |
OMIM:618731 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Microcornea, Coloboma, Chorioretinal coloboma, Malar flattening, Iris coloboma, Abn... |
ORPHA:921 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Smooth philtrum, Carious teeth, Brachycephaly, De... |
OMIM:619229 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply set ey... |
ORPHA:261304 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Do... |
OMIM:167730 |
Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Orofacial cleft, Developmental cataract, Respiratory failure, High palate, Tri... |
OMIM:618804 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Downturned corners of mouth, Frontal bossing, Hypotelorism |
OMIM:618718 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Hypertelorism, ... |
OMIM:618820 |
Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenu... |
ORPHA:2919 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Hypertelorism, High, narrow palate, Hydrocephalus, Lateral ventricle dila... |
OMIM:619575 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Depressed... |
OMIM:616331 |
Orofaciodigital Syndrome Xix |
|
Frontal bossing, Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nas... |
OMIM:620107 |
Vici Syndrome |
|
Wide nose, Cataract, Depressed nasal bridge, Median cleft lip, Everted upper lip vermilion, Micro... |
OMIM:242840 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Agenes... |
OMIM:200990 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydrocephalus,... |
ORPHA:3412 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Cataract, Hypertelorism, Cleft lip, Bulbous nose, Deep philtr... |
OMIM:618571 |
Noonan Syndrome 14 |
|
Prominent nasal bridge, Hypertelorism, High, narrow palate, Wide mouth, Lateral ventricle dilatat... |
OMIM:619745 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Broad nasal tip, Deep philtrum, Non-midline cleft lip, Wide nasal bridge, Orofacial cle... |
ORPHA:1297 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Prominent nose, Hypotelorism, Long philtrum, Retrognathia |
OMIM:619691 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Dandy-Walker malformation, Hypertelorism |
OMIM:614465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea, Coloboma |
OMIM:616490 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cataract, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Bifid u... |
ORPHA:2250 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Cat-Eye Syndrome |
|
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Anal atresia, Intrauterine ... |
ORPHA:195 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Frontal bossing, Narrow nasal bridge, Micrognathia, Hypotelorism, Abnormal... |
ORPHA:3082 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Posterior ... |
OMIM:613154 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma, Dand... |
ORPHA:138 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Pro... |
OMIM:619793 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypertelorism, Pulmonary arterial hypertension, Long philtrum, Microphthalmia, Short nose, Agenes... |
OMIM:300887 |
Lig4 Syndrome |
|
Prominent nose, Asthma, Brachycephaly, Wide nasal bridge, Hypotelorism, Telangiectasia, Astigmati... |
OMIM:606593 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth |
OMIM:300934 |
Koolen-De Vries Syndrome |
|
Cataract, Prominent nasal bridge, Cleft upper lip, Pyloric stenosis, Bulbous nose, Cleft palate, ... |
OMIM:610443 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, C... |
OMIM:614114 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Jaundice, Microphthalmia, Ventriculomegaly, Intrauterine growth retardation |
ORPHA:858 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Micrognathia, Hydrocephal... |
ORPHA:3301 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Underdeveloped nasal alae, Hypoplasia of the maxilla, Micrognathia, Hypertelorism,... |
OMIM:263650 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, H... |
OMIM:619680 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Anteverted nares, Tented upper lip vermilion, Hypertelorism, Recurrent pneumonia, Cleft... |
OMIM:616449 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Agenesis of corpus callosum, Ven... |
ORPHA:99742 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Flat occiput, Anteverted nares, Tented upper lip vermi... |
OMIM:619383 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Smooth philtrum, Irregular dentition, Micrognathia, Hypertelorism, Bulbous nose, Asthma, Cleft pa... |
OMIM:615656 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Grayish enamel,... |
ORPHA:2980 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Anophthalmia, Corneal opacity, Abnormal dental enamel morphology... |
ORPHA:2556 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Choriore... |
OMIM:234100 |
Neurooculocardiogenitourinary Syndrome |
|
Prominent nasal bridge, Hypertelorism, Downturned corners of mouth, Coloboma, Peters anomaly, Mic... |
OMIM:618652 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Hypertelorism, Cleft palate, Abnormality ... |
ORPHA:1135 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Frontal bossing, Cataract, Anteverted nares, Depressed nasal bridge, Hypot... |
OMIM:181270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Neonatal respiratory distress, High palate, Hypotelorism |
OMIM:619053 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia... |
ORPHA:1473 |
Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,... |
ORPHA:63259 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Pierre-Robin sequence, Brac... |
OMIM:611961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Hydrocephalus, Developmental cataract |
OMIM:613155 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... |
OMIM:615873 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Holoprosencephaly, Bifid ... |
OMIM:270400 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Cataract, Retinal coloboma |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Hypertelorism, Bulbous nose, Brachycephaly, Plagiocephal... |
OMIM:616789 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Cataract, Bulbous nose, Hydrocephalus, Wide nasal bridge, Deeply set eye, Ankylo... |
ORPHA:250989 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Malar prominence, Micrognathia, Microcornea, Microphthalmia, Intrauterine growth retard... |
ORPHA:48431 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced... |
OMIM:601349 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Underdeveloped nasal alae, Micr... |
ORPHA:264200 |
Braddock Syndrome |
|
Neonatal respiratory distress, Micrognathia, Hypotelorism, Pulmonary arterial hypertension, Intra... |
ORPHA:52047 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Hyperteloris... |
OMIM:618529 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelor... |
ORPHA:93260 |
Gabriele-De Vries Syndrome |
|
Broad nasal tip, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Pierre-Ro... |
OMIM:617557 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cataract, Prominent nasal bridge, Broad nasal tip, Long nose, Hypotelorism, Deeply set eye, Intra... |
OMIM:616541 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Hamartoma of tongue, Micrognathia, Cleft... |
OMIM:615948 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cataract, Peters anomaly, Cleft upper lip, Hydrocephalus, Cleft ... |
OMIM:613150 |
Oculofaciocardiodental Syndrome |
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Delayed eruption of teeth, Cataract, Prominent nasal bridge, Intestinal malrotation, Ectopia lent... |
ORPHA:2712 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Wide nose, Cataract, Corneal opacity, Hypertelorism, Hypoplasia of the maxilla, Recurrent upper r... |
ORPHA:2399 |
Congenital Disorder Of Glycosylation, Type Iif |
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Flat occiput, Hypotelorism, Deeply set eye, Short philtrum, Subcutaneous hemorrhage |
OMIM:603585 |
Curry-Jones Syndrome |
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Intestinal malrotation, Craniosynostosis, Hypertelorism, Optic disc coloboma, Microphthalmia, Age... |
ORPHA:1553 |
Microphthalmia, Syndromic 3 |
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Frontal bossing, Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Anterior pi... |
OMIM:206900 |
Pseudo-Torch Syndrome 2 |
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Ventriculomegaly, Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventric... |
OMIM:617397 |
Joubert Syndrome 2 |
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Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Central apnea, Depressed nasal ... |
OMIM:608091 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
White Sponge Nevus 2 |
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Edema |
OMIM:615785 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... |
OMIM:301044 |
Cataract 16, Multiple Types |
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Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
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Coloboma |
OMIM:618295 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Muscular Hypertonia, Lethal |
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Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia |
OMIM:254120 |
Marden-Walker Syndrome |
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Anteverted nares, Micrognathia, Hypertelorism, High, narrow palate, Pyloric stenosis, Wide anteri... |
OMIM:248700 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Cleft upper lip, Anosmia, Cleft palate, Hypotelorism, Hyposmia |
OMIM:244200 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Mi... |
OMIM:217980 |
Congenital Disorder Of Glycosylation, Type Iq |
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Cataract, Depressed nasal bridge, Hypertelorism, Brachycephaly, Coloboma, Microphthalmia |
OMIM:612379 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Cataract 1, Multiple Types |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Pontocerebellar Hypoplasia, Type 11 |
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Coloboma, Bulbous nose, Agenesis of corpus callosum, Anal atresia |
OMIM:617695 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Death in infancy, Hydrocephalus, Colpocephaly, Death in childhood, Intrauterine growth retardatio... |
OMIM:616034 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Pierre-R... |
OMIM:300868 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Neonatal respiratory distress, Micrognathia, Hypotelorism, Deeply set eye, High palate, Narrow mo... |
OMIM:602471 |
Lissencephaly 8 |
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Microphthalmia, Occipital encephalocele, Cataract, Ventriculomegaly |
OMIM:617255 |
Chromosome 17Q12 Duplication Syndrome |
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Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Peters anomaly, Microphthalm... |
OMIM:614526 |
Wiedemann-Rautenstrauch Syndrome |
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Micrognathia, Brachycephaly, Hypotelorism, Downturned corners of mouth, Deeply set eye, Parietal ... |
OMIM:264090 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Moebius Syndrome |
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Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Hypertelorism, Mic... |
OMIM:157900 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
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Hypotelorism |
OMIM:619091 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macular ... |
OMIM:615219 |
Slc35A2-Cdg |
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Intrauterine growth retardation, Lateral ventricle dilatation, Dandy-Walker malformation, Cranios... |
ORPHA:356961 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthal... |
ORPHA:369891 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Mandibular prognathia, Anophthalmia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow p... |
ORPHA:1101 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Anteverted nares, Hypertelorism, Depressed nasal ridge, Gingival overgrowth, Coloboma, Deeply set... |
ORPHA:464288 |
Microphthalmia, Syndromic 13 |
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Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors |
OMIM:300915 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Tented upper lip vermilion, Oligodontia, Prominence of the zygomatic bone, Exaggerated cupid's bo... |
ORPHA:364577 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Lateral ventricle dilatation |
OMIM:256850 |
Primary Pulmonary Hypoplasia |
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Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... |
ORPHA:2257 |
Saethre-Chotzen Syndrome |
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Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypertelorism, Hypoplasia of th... |
ORPHA:794 |
Cockayne Syndrome Type 1 |
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Mandibular prognathia, Anophthalmia, Cataract, Delayed eruption of primary teeth, Progeroid facia... |
ORPHA:90321 |
Weaver Syndrome |
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Mandibular prognathia, Flat occiput, Depressed nasal bridge, Hypertelorism, Lateral ventricle dil... |
OMIM:277590 |
Ring Chromosome 10 Syndrome |
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Frontal bossing, Aganglionic megacolon, Micrognathia, Hypertelorism, Wide nasal bridge, Thin verm... |
ORPHA:1438 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Diaphanospondylodysostosis |
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Respiratory distress, Myelomeningocele, Cleft palate |
ORPHA:66637 |
Fryns Syndrome |
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Tented upper lip vermilion, Micrognathia, High palate, Agenesis of corpus callosum, Dandy-Walker ... |
ORPHA:2059 |
Degcags Syndrome |
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Micrognathia, Prominent nose, Hypotelorism, Premature graying of hair, High palate, Agenesis of c... |
OMIM:619488 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Respiratory distress, Hypertelorism, Micrognathia, Respiratory insufficiency due to muscle weakne... |
ORPHA:1143 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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Respiratory distress |
ORPHA:2680 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
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Acrocyanosis |
ORPHA:86918 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum |
OMIM:615771 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Frontal bossing, Cataract, Micrognathia, Microcornea, Coloboma, Iris transillumination defect, Sh... |
OMIM:617306 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Hypertelorism, C... |
ORPHA:97297 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Hypotelorism, Deeply set eye,... |
OMIM:612474 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia, Low hanging columella |
OMIM:619318 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Sclerocornea, Delayed eruption of primary teeth, Lateral ventricle dilatation, Microphthalmia, Ag... |
OMIM:300952 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Respiratory distress, Flat occiput, Micrognathia, High, narrow palate, Dyspnea, Brachycephaly, Mi... |
ORPHA:2707 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, ... |
OMIM:257850 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Mmep Syndrome |
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Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Flat occiput, Depressed nasal bridge, Hypertelorism, Micrognathia, High, na... |
OMIM:608799 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Micrognathia, Hypotelorism, High palate, Abnormality of globe size, Increased circulating prolact... |
ORPHA:502423 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Wide nose, Cataract, Anteverted nares, Micrognathia, Astigmatism, Widely spaced teeth, Microdonti... |
OMIM:619694 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anophthalmia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spina ... |
OMIM:305600 |
Osteopetrosis, Autosomal Recessive 7 |
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Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Proptosis, De... |
OMIM:612301 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Intestinal malrotation, Micro... |
ORPHA:404440 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Hypertelorism, Bulbous nose, Optic disc coloboma, Deep philtrum, Cleft palate, Down... |
ORPHA:251014 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth h... |
OMIM:241410 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Neonatal respiratory distress, Depressed nasal bridge, Short lingual frenulum, W... |
OMIM:619479 |
Cataract 11, Multiple Types |
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Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Mandibular prognathia, Thin upper lip vermilion, Flat occiput, Depressed nasal bridge, Anteverted... |
OMIM:152950 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Frontal bossing, Depressed nasal bridge, Exaggerated cupid's bow, Hypertelorism, Cleft lip, Bulbo... |
OMIM:620098 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Agenesis of corpus callosum, Bifid uvula, Clove... |
ORPHA:87 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pete... |
OMIM:608013 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Flat occiput, Dental crowding, Micrognathia, Coloboma, Deeply set eye, High palate, Short philtru... |
ORPHA:251028 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... |
OMIM:619426 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine g... |
OMIM:300863 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Gonadotropin deficiency, Holoprosencephaly, Bifid uvula, Microretrognathia... |
ORPHA:672 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, Hypotelorism, High palate,... |
OMIM:135900 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Respiratory failure, Death in childhood |
OMIM:619847 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Dandy-Walke... |
OMIM:611134 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Encephalocele, Anal atresia, Hamartoma of tongue, Prominent nose,... |
OMIM:616300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Micrognathia, Broad nasal tip... |
OMIM:309590 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Hypotelorism |
ORPHA:477673 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance |
OMIM:619466 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Hydrocephalu... |
ORPHA:2356 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Fraser Syndrome |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, High palate, Encephalocele, Death... |
ORPHA:2052 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Neonatal... |
OMIM:619751 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, Deeply set eye, High palate, Agenesis of c... |
OMIM:607872 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Occipital meningocele, Intestinal pseudo-obstruction, Anal stenosis, Intestinal... |
OMIM:601707 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Hypertelorism, Dyspnea, Single naris... |
OMIM:615636 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, High, narrow palate, Wide anterior fonta... |
OMIM:616920 |
Warburg Micro Syndrome 3 |
|
Cataract, Micrognathia, Brachycephaly, Narrow palate, Developmental cataract, Microcornea, Downtu... |
OMIM:614222 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Cyanosis, Ventriculomegaly |
ORPHA:488627 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Open mouth |
ORPHA:565624 |
Fanconi Anemia, Complementation Group D2 |
|
Hypertelorism, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Hypotelorism, Microp... |
OMIM:227646 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Frontal bossing, Death in infancy, Respiratory distress, Depressed nas... |
ORPHA:166272 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Cataract, Micrognathia, High, narrow pa... |
ORPHA:2780 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Astigmatism, Chorioretinal colo... |
ORPHA:494344 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital ptery... |
OMIM:619339 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Desmosterolosis |
|
Frontal bossing, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abnormality of the... |
ORPHA:35107 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cataract, Choanal atresia, Hypertelorism, Cleft lip, Dental malocclus... |
OMIM:603457 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Ventriculomegaly |
OMIM:617977 |
3Mc Syndrome 3 |
|
Corneal opacity, Cleft upper lip, Hypertelorism, Facial cleft, Cleft palate |
OMIM:248340 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cutaneous photosensitivity, Cataract |
OMIM:278780 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Cataract, Spina bifid... |
OMIM:109400 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma, Intrauterine growth retardation |
OMIM:615665 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Isolated Sedoheptulokinase Deficiency |
|
Neonatal asphyxia, Steatorrhea, Hypotelorism, Shallow orbits, Abnormality of globe location, Vent... |
ORPHA:440713 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Microcornea, Oligodontia, Fused teeth, Bifid uvula, Iris coloboma, Dandy-Walker mal... |
OMIM:300166 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Da... |
OMIM:603194 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Hypertelorism, Long nose, Partial agenesis of the corpus callosum, Bulbous nose, Colpocephaly, Hi... |
OMIM:620113 |
Seckel Syndrome 7 |
|
Hypotelorism, Intrauterine growth retardation, Prominent nose |
OMIM:614851 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypote... |
OMIM:615849 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... |
OMIM:608670 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Cataract, Abnormality of the philtrum, Spina bifida, Micrognathia, Hyperteloris... |
ORPHA:2671 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Hypertelorism, Micrognathia, Wide nasal bridge, Hypoplastic n... |
ORPHA:3304 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long philtrum, Mic... |
OMIM:615877 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Coloboma,... |
ORPHA:324737 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Death in infancy, Depressed nasal bridge, Hypoplasia of the premaxilla, Macrodon... |
ORPHA:1106 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, Deeply set eye, Short philtrum, Emphysema... |
ORPHA:500150 |
Coffin-Siris Syndrome 12 |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia, ... |
OMIM:619325 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Corneal opacity, Hydrocephalus, Tachypnea, Cleft palate, Cough, Microphthalmia, Megaloc... |
ORPHA:137675 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Depressed nasal bridge, Anteverted nares, Hypotelorism, High palate, Open mouth, Ventriculomegaly |
OMIM:619743 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Neu-Laxova Syndrome 1 |
|
Micrognathia, Swollen lip, Depressed nasal ridge, Neonatal death, Pterygium, Agenesis of corpus c... |
OMIM:256520 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Microcornea, High palate, Microdontia, Anteverted nares, Depr... |
ORPHA:536467 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Cleft palate, Neonatal death, Nar... |
OMIM:251230 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Frontal bossing, Central apnea, Depressed nasal bridge, Wide anterior fonta... |
OMIM:616482 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin d... |
OMIM:214800 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Wide mo... |
ORPHA:261250 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal... |
ORPHA:284160 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:352665 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... |
OMIM:612289 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
3Q29 Microduplication Syndrome |
|
Cataract, Craniosynostosis, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal... |
ORPHA:251038 |
Mend Syndrome |
|
Cataract, Prominent nasal bridge, Micrognathia, Hypertelorism, Wide anterior fontanel, Hydrocepha... |
ORPHA:401973 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microdontia, Non-midline cleft lip, Cle... |
ORPHA:1915 |
Micro Syndrome |
|
Cataract, Anteverted nares, Micrognathia, Wide nasal bridge, Microcornea, Retinal coloboma, High ... |
ORPHA:2510 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Hypertelorism, Diastema, Bulbous nose, Downturned corners of mouth, Col... |
ORPHA:329224 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Lymphedema, Primary, With Myelodysplasia |
|
Hypotelorism |
OMIM:614038 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Recurrent upper respiratory tract infections, Tachypnea, Respirat... |
OMIM:263000 |
Joubert Syndrome 37 |
|
Frontal bossing, Wide nose, Anteverted nares, Hypertelorism, Wide nasal bridge, Deeply set eye, H... |
OMIM:619185 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Anteverted nares, Micrognathia, Prominent nose, Partial agenesis of the corpus ... |
OMIM:210710 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Micrognathia, Microglossia, Brachycephaly, Cleft palate, Plagiocephal... |
OMIM:607932 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Micrognathia, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Microcornea, R... |
ORPHA:2839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Inspiratory stridor,... |
OMIM:604377 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... |
ORPHA:95494 |
Retinal Dystrophy With Leukodystrophy |
|
Cleft palate, Hypotelorism |
OMIM:618863 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Ventriculomegaly, Dyspnea |
OMIM:308350 |
Kniest Dysplasia |
|
Respiratory distress, Cataract, Depressed nasal bridge, Cleft palate, Proptosis, Umbilical hernia... |
OMIM:156550 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Hypertelorism, Depressed nasal ridge, Brachycephaly, Wide nasal brid... |
ORPHA:2211 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Depressed nasal bridge, Dysplastic corpus callosum, Colpocephaly, Microdon... |
OMIM:619955 |
Maternal Phenylketonuria |
|
Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge, Hypotelorism, High palate,... |
ORPHA:2209 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cataract, Neonatal death, Microphthalmia, Ventriculomegaly |
OMIM:613730 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar holoprosencephaly |
OMIM:601370 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia, Cutis marmorata |
OMIM:615297 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Prominent nose, H... |
OMIM:180849 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Hypertelorism, Brachycephaly, Cleft palate, Microcornea, Hi... |
OMIM:156610 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Galloway-Mowat Syndrome 9 |
|
Hypertelorism, Hiatus hernia, Ventriculomegaly, Hypotelorism |
OMIM:619603 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Orofacial cleft, Retinal colobo... |
ORPHA:2328 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Hypertelorism, ... |
OMIM:617883 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Wide nose, Ventriculomegaly, Depressed nasal bridge, Cataract, Micrognathia, Cle... |
ORPHA:93271 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Smooth philtrum, Tented upper lip vermilion, Prominent nasal... |
OMIM:615582 |
Stormorken Syndrome |
|
Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Short philtrum, Bruising susceptibility |
OMIM:185070 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia |
OMIM:619981 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Peters anomaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp... |
OMIM:309801 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cataract, Sclerocornea, Lateral ventricle dilatation, Thin vermilion bo... |
OMIM:619869 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Cataract, Prominent nasal bridge, Prominent nose, Abnormality of the denti... |
ORPHA:627 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea, Ocular albinism, Hypotelorism, Retrognathia, Smooth philtrum |
OMIM:617050 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Hypertelorism, Esophageal varix, Wide m... |
OMIM:216360 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Optic nerve hypoplasia, Spina... |
ORPHA:508498 |
Cousin Syndrome |
|
Frontal bossing, Micrognathia, Hypertelorism, Hydrocephalus, Alveolar ridge overgrowth, Cleft pal... |
OMIM:260660 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, High palate,... |
ORPHA:596 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Lateral ventricle dilatation, ... |
OMIM:300896 |
Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Hypertelorism, Depressed nasal ridge,... |
OMIM:608022 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Promin... |
ORPHA:435638 |
Chitayat Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, P... |
OMIM:617180 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Cataract |
ORPHA:291 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted l... |
OMIM:253280 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Cataract, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the ma... |
OMIM:212720 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:26792 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Intrauterine... |
OMIM:620133 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Developmental cataract, Gingival bleeding, Microphthalmia, Volvulus, Bruising susceptib... |
ORPHA:335 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongue, Pl... |
ORPHA:453499 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Bilateral microphthalmos, Wide nasal bridge, Respiratory insufficienc... |
OMIM:601186 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:314655 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Hypertelorism, Micrognathia, Brachycephaly, Coloboma |
OMIM:606851 |
Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, High palate, Spina bifida occulta, Depressed nasal bridge, Hyperte... |
ORPHA:235 |
Cranioectodermal Dysplasia 1 |
|
Frontal bossing, Anteverted nares, Sagittal craniosynostosis, High, narrow palate, Scaphocephaly,... |
OMIM:218330 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Widely spaced tee... |
OMIM:617102 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre... |
ORPHA:2759 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submuco... |
OMIM:222765 |
Double Outlet Right Ventricle |
|
Cyanosis, Depressed nasal bridge, Intestinal malrotation, Hypertelorism, Submucous cleft hard pal... |
ORPHA:3426 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Broad nasal tip, Anteriorly placed a... |
OMIM:248450 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Premature graying of hair, Iris coloboma, Depressed nasal bridge, Hyp... |
OMIM:113620 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, High, narrow palate, Bulbous nose, Cleft palate, Anteriorly placed anus... |
OMIM:618494 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal alae, Hypertelorism, Microg... |
OMIM:614230 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Apnea, Decreased response to growth hormone stimulation test, Dental crowd... |
OMIM:619503 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Ankyloglossia |
OMIM:602361 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Cardiofacioneurodevelopmental Syndrome |
|
Hypertelorism, Micrognathia, Cleft lip, Cleft palate, Hypotelorism |
OMIM:619123 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Lateral ventricle dilatation |
ORPHA:2148 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Thin upper lip vermilion, Anteverted nares, Hypertelorism, Micrognathia, Wide a... |
OMIM:619135 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Prominent nose, Phakodonesis, Ectopia ... |
OMIM:601552 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep p... |
OMIM:610536 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Galloway-Mowat Syndrome 1 |
|
Ventriculomegaly, Flat occiput, Cataract, Narrow nasal ridge, Prominent nose, Micrognathia, Hyper... |
OMIM:251300 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Hypertelorism, Broad nasal tip, Micrognathia |
ORPHA:166016 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Cataract, Hypodontia, Short nose, Midface retrusion |
ORPHA:544503 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Coloboma, High palate, Shallow orbits, Hyperplasia of the maxilla, H... |
OMIM:268300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... |
ORPHA:2538 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Hypotelorism, Wide mouth, High palate, Death in childhood, Short nose, Co... |
OMIM:300661 |
Kapur-Toriello Syndrome |
|
Cataract, Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft palate, Retinal coloboma, ... |
OMIM:244300 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Microcornea, Kera... |
OMIM:234050 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, High pa... |
ORPHA:79500 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcorne... |
OMIM:612109 |
Rodrigues Blindness |
|
Narrow nasal bridge, Sclerocornea, Nasal flaring, Microcornea, Ectodermal dysplasia, Microphthalm... |
OMIM:268320 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Brachycephaly, Hypotelorism, Wide mouth, Posterior plagiocephaly, Duodena... |
OMIM:617798 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Cutis marmorata, Hypertelorism, Bilateral microphthal... |
ORPHA:2563 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Hypertelorism, Wide nasal bridge, Hypoxemia, P... |
ORPHA:2282 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Narrow mouth, Hydrocepha... |
ORPHA:77301 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, High palat... |
OMIM:114290 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Later... |
OMIM:263520 |
Tarp Syndrome |
|
Cyanosis, Anteverted nares, Apnea, Hypertelorism, Micrognathia, Pierre-Robin sequence, Wide nasal... |
ORPHA:2886 |
Kabuki Syndrome 1 |
|
Anal stenosis, Intestinal malrotation, Micrognathia, Malabsorption, Abnormality of the dentition,... |
OMIM:147920 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic mega... |
ORPHA:1051 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Cleft palate, Cleft upper lip |
OMIM:217100 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Anteverted nares, Hypertelo... |
ORPHA:884 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cataract, Depressed nasal brid... |
OMIM:268400 |
Warburg Micro Syndrome 4 |
|
Anteverted nares, Prominent nasal bridge, Brachycephaly, Developmental cataract, Microcornea, Dee... |
OMIM:615663 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hydrocephalus, Downturned corn... |
OMIM:619321 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida, Craniosynostosis, Abnormal anterior chamber morphology |
ORPHA:93323 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Micrognathia, Duodenal stenosis, Microphthalmia, Short nose |
ORPHA:2547 |
Adams-Oliver Syndrome |
|
Encephalocele, Cataract, Cutis marmorata, Hydrocephalus, Esophageal varix, Pulmonary arterial hyp... |
ORPHA:974 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Hypertelorism, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Tracheoesophag... |
OMIM:614083 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Microcornea... |
ORPHA:261552 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:98914 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Par... |
OMIM:119600 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Macrodontia, Micrognathia, Narrow mout... |
OMIM:309500 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Prominent occiput, Respiratory failure, Proptosis, ... |
OMIM:617895 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:619487 |
Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Cleft palate, O... |
ORPHA:2322 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Deeply set eye, Short philtrum, Agenes... |
ORPHA:261537 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Exaggerated cupid's bow, Broad philtrum, Colpocephaly, Short nose, Agenesis of ... |
OMIM:618619 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Hypertelorism, Thin vermilion border, Long philtrum, Mi... |
ORPHA:85194 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Hydrocephalus, Buphthalmos, Respiratory failure, Microphthalmia, Ventriculomegaly |
OMIM:616538 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Intrauterin... |
OMIM:620183 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... |
OMIM:619950 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Ante... |
ORPHA:438216 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Choanal s... |
ORPHA:798 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microph... |
OMIM:613001 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Hypertelorism, Narrow mo... |
ORPHA:261112 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Long philtrum, Microphthalmia, Ocular... |
OMIM:615145 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Hypertelorism, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, ... |
OMIM:618106 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Coloboma, Deeply set eye, High palate, Short philtrum, Chorioretinal colobom... |
OMIM:619475 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hypoplasia of the iris, Deeply set eye, Microcornea, Death in childhood, P... |
OMIM:133540 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bifid uvula, Iris co... |
OMIM:620186 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... |
ORPHA:1942 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Anteverted n... |
OMIM:166250 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Hypertelorism, Pyloric... |
ORPHA:363705 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine... |
ORPHA:290 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Intestinal polyposis, Depressed nasal bridge, Anteverted nare... |
ORPHA:276413 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Asti... |
OMIM:609053 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Micrognathia, Hypertelorism, Hiatus hernia, Deeply set eye, High palate, Narrow ... |
OMIM:617729 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Hypertelorism, Cleft upper lip, Brachycephaly, Wide nasal br... |
OMIM:201180 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Thickened calvaria, Prematurely aged appearance, Abnormal dental enamel mo... |
ORPHA:2658 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Frontal bossing, Tented upper lip vermilion, Dental crowding, Micrognathia,... |
OMIM:620369 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Choanal atresia, Intestinal malrotation, Pylor... |
ORPHA:1199 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Persistence of primary teeth, Conical tooth, Microdontia, Dental malocclusion, Wide nas... |
OMIM:618727 |
Achondroplasia |
|
Respiratory distress, Frontal bossing, Death in infancy, Depressed nasal bridge, Hydrocephalus, U... |
OMIM:100800 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Cataract, Malabsorption, Asthma, Triangular mouth, Tela... |
OMIM:601675 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Dysplastic corpus callosum, Partial agenesis of th... |
OMIM:619103 |
Hyperlysinemia |
|
Craniosynostosis, Recurrent pneumonia, Depressed nasal ridge, Hypotelorism, High palate, Smooth p... |
ORPHA:2203 |
Hydranencephaly |
|
Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Intrauterine growth retardation, Dysgenesis... |
ORPHA:2177 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Open bite, Bulbous nose, H... |
OMIM:115150 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Crani... |
ORPHA:3342 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Corneal opacity, Abnormal dental enamel morphology, Spina bifida, Ectopia le... |
ORPHA:2092 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Micrognathia, Hypotelorism, Microcornea, High palate, Abnormal nasal bridge m... |
ORPHA:536545 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, Coloboma |
ORPHA:91412 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Hypertelorism, Hydrocephalus, Hypotelorism, Abnormality of the sphenoid ... |
ORPHA:363700 |
Cohen Syndrome |
|
Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia o... |
ORPHA:193 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Atelis Syndrome 2 |
|
Frontal bossing, Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Dyspnea, ... |
OMIM:620185 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Cataract, Anteverted nares, Selective tooth agenesis, Narrow nose, Underdeve... |
OMIM:164200 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Cleft palate, Tracheoesophageal fistula, Deeply set eye |
ORPHA:261272 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Cataract, Hypertelorism, Micrognathia, Brushfield spots, Jaundice, Wide anterio... |
OMIM:614866 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Respiratory distress, Anteverted nares, Depressed n... |
OMIM:618188 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... |
OMIM:169550 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Norrie Disease |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Cor... |
ORPHA:649 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Abnormal dental enamel morphology, Spina bifida, Hypertelorism, Chr... |
ORPHA:567 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti... |
OMIM:183900 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Narrow mouth, Microphthalmia, Agenesis of cor... |
OMIM:614833 |
Warburg Micro Syndrome 2 |
|
Cataract, Prominent nasal bridge, Brachycephaly, Developmental cataract, Microcornea, Deeply set ... |
OMIM:614225 |
Seckel Syndrome 2 |
|
Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Pleural ... |
ORPHA:3392 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Limbal dermoid, H... |
OMIM:164210 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Mulberry m... |
OMIM:302350 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Cleft palate, Midface retrusion, Bifid uvula |
OMIM:606164 |
Fryns Syndrome |
|
Tented upper lip vermilion, Agenesis of corpus callosum, Dandy-Walker malformation, Microretrogna... |
OMIM:229850 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
Ohdo Syndrome, X-Linked |
|
Depressed nasal bridge, Prominent nose, Micrognathia, Hypertelorism, Bulbous nose, Hiatus hernia,... |
OMIM:300895 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Cataract, Wide nasal bridge, Thick vermilion border, C... |
ORPHA:2526 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Anterior pituitary hypoplasia, Hyperte... |
OMIM:619534 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Micrognathia, Triangular mouth, Corneal scarring, Bu... |
OMIM:618460 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism |
OMIM:616937 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Nasal congestion, Tra... |
ORPHA:137914 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Carious teeth, Micrognathia, ... |
OMIM:223370 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft,... |
ORPHA:65286 |
Yunis-Varon Syndrome |
|
Sclerocornea, Abnormal occipital bone morphology, Micrognathia, High, narrow palate, Broad second... |
ORPHA:3472 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Hypotelorism, Microcornea, Umbilical hernia, Bruising susceptibility |
OMIM:614557 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Anisocoria, Deeply se... |
OMIM:613406 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Posterior embryotoxon, Broad nasal tip, Hypertelorism, Deep philtrum, S... |
OMIM:619194 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Teebi-Shaltout Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Broad nasal tip, Hypertelorism, High, narrow palate, Sca... |
OMIM:272950 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hydrocephalus, Submucou... |
ORPHA:1340 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Malabsorption, Cleft upper lip... |
ORPHA:50 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cataract, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Underdev... |
ORPHA:268261 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Adnp Syndrome |
|
Respiratory distress, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Trigonoc... |
ORPHA:404448 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Micrognathia, Respiratory insufficiency, Microdontia, Microphthalmia |
ORPHA:3191 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
Pitt-Hopkins Syndrome |
|
Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Abnormal pattern ... |
ORPHA:2896 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy... |
ORPHA:70588 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Deeply set eye, Short philtrum, D... |
OMIM:610758 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Frontal bossing, Depressed nasal bridge, Hamartoma of tongue, Micrognathia, Hypertel... |
OMIM:617925 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cataract, Cyanosis, Apnea, Hydrocephalus, Macroglossia, Pleural effusion |
OMIM:261740 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, High palate, Tongue fasciculations, Respiratory insufficiency |
ORPHA:1145 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Stickler Syndrome, Type I |
|
Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pi... |
OMIM:108300 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Anal stenosis, Optic disc hypoplasia, Choanal atresia, Aganglion... |
OMIM:607323 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, Umbilica... |
ORPHA:226313 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Hypotelorism, Dee... |
OMIM:613658 |
Zttk Syndrome |
|
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hypoplas... |
OMIM:617140 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Hypertelorism, Micrognathia, Rectal fistula, Rectal atresi... |
OMIM:115470 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Ventriculomegaly, Protruding tongue |
OMIM:619580 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Fanconi Anemia |
|
Micrognathia, High palate, Spina bifida, Hypertelorism, Aplasia/Hypoplasia of the uvula, Aplasia/... |
ORPHA:84 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Abnormal pupil morphology, De... |
ORPHA:534 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Cataract, Depressed nasal bridge, Hypertelorism, Microcornea, High palate, Micro... |
ORPHA:35173 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick low... |
OMIM:617412 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthma, Leukocoria, Cleft... |
ORPHA:2714 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormality of the dentition, Op... |
ORPHA:568 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... |
OMIM:245590 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Choanal atresia, Tracheomalacia, Micrognathia, Underdeveloped nasal... |
ORPHA:2108 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Downturn... |
ORPHA:1299 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Downturned corners ... |
ORPHA:3455 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate, Ventriculomegaly |
OMIM:619272 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Hypertelorism, Pyloric stenosis, Subm... |
OMIM:235730 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Hypertelorism, Optic disc coloboma, Micro... |
ORPHA:959 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Hypotelorism, Severe intrauterine growth retardation, Prominent nose |
ORPHA:319675 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Rectal prolapse, Thick nasal septum, High palate, Widely spaced teeth, Acr... |
OMIM:303600 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip and pal... |
OMIM:618874 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Micrognathia, Hypertelorism, Respiratory insuff... |
OMIM:615574 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Coloboma, High palate, Aspiration, Abnormal lateral ventricle morp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Coloboma, High palate, Aspiration, Abnormal lateral ventricle morp... |
ORPHA:353277 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Deeply set eye, Conjunc... |
OMIM:616268 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Micrognathia, Anencephaly, Cleft palate, Stillbirth, Bifid nose, Midline defect... |
OMIM:236680 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphth... |
ORPHA:2728 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Micrognathia, Trismus, Bulbous nose, Recurrent pneumonia, Intraut... |
OMIM:616271 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Abnormality of dental color, Cranial asymmetry, Corneal opacity |
OMIM:163200 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:616733 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Submucous cleft soft pal... |
ORPHA:2751 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Macular coloboma, Pulmonary embolism, Hydrocephalus, Jaundice, Pulmonary ar... |
ORPHA:79282 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Long philtrum, Dentinogenesis ... |
OMIM:184260 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur... |
ORPHA:3015 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Jaundice, Developmental cat... |
OMIM:231680 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Smooth philtrum, Frontal bossing, Decreased response to growth hormone stimulation test, Deep phi... |
OMIM:617260 |
W Syndrome |
|
Depressed nasal bridge, Hypertelorism, Broad nasal tip, Submucous cleft hard palate, Agenesis of ... |
ORPHA:2804 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... |
ORPHA:178303 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Frontal bossing, Corneal opacity |
ORPHA:2788 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... |
ORPHA:1855 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... |
OMIM:619227 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Dentinogenesis imperfecta, Recurrent pneumo... |
OMIM:613848 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow pal... |
ORPHA:2554 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Prominent nasal bridge, Hypertelorism,... |
OMIM:139210 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Thick lower lip vermilion, Long philtrum, Acrocyanosis, Prominent nose |
OMIM:614407 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, L... |
ORPHA:100050 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Asthma, Brachycephaly, Plagiocephaly, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft pala... |
OMIM:273395 |
Hereditary Bullous Dystrophy, Macular Type |
|
Turricephaly, Cataract, Corneal opacity, Pneumonia, Acrocyanosis |
ORPHA:1867 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Ventriculomegaly |
OMIM:620166 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Ventriculome... |
ORPHA:199276 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... |
OMIM:154500 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Ventriculomegaly, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microp... |
ORPHA:2612 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Carious teeth, Hypertelorism, Wid... |
OMIM:616734 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... |
ORPHA:90051 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Resp... |
ORPHA:98915 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ... |
ORPHA:740 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Ocular albinism, Wide nasal bridge, Anteriorly placed anus, Microphthalmia, Anal at... |
ORPHA:1352 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Mic... |
ORPHA:1806 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Micrognathia, Cleft palate, Microcornea, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor... |
OMIM:305100 |
Buratti-Harel Syndrome |
|
Hypertelorism, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hi... |
OMIM:619314 |
Roberts Syndrome |
|
Cataract, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Cleft upper l... |
ORPHA:3103 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Celiac disease, R... |
OMIM:194050 |
Neuroocular Syndrome |
|
Lens coloboma, Microcornea, Deeply set eye, Downturned corners of mouth, Widely spaced teeth, Tor... |
OMIM:619539 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Cataract, Corneal opacity, Abnormal dental enamel morphology, Telangie... |
ORPHA:464 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Stridor, Macroglossia, Conjunctivitis, Thick vermilion borde... |
ORPHA:505248 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th... |
ORPHA:3201 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, Frontal bossing, Acute respiratory distress syndrome, Cataract, Depressed nasal ... |
OMIM:620005 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Respiratory distress, Ectopic posterior pituitary, Thin upper lip vermilion, A... |
ORPHA:508488 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Frontal bossing, Dental crowding, Prominent nose, Dysplastic corpus callosum... |
OMIM:300967 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Hypertelorism, Aqueductal stenosis, Posteriorly placed anus, Hydr... |
OMIM:306955 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated fourth ventricle, Hamartoma of tongue, Accessory oral frenulum, Bulbou... |
ORPHA:434179 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Submucous ... |
ORPHA:2588 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Choanal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
OMIM:107480 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Bulbous nose, A... |
ORPHA:466943 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Dental crowding, Narrow nasal ridge, Open bite, Plagiocephaly, Colpocephal... |
OMIM:620083 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Corneal astigmatism, Episodic respira... |
ORPHA:141083 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia |
ORPHA:85167 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... |
ORPHA:2756 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft ... |
OMIM:619122 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cataract |
ORPHA:254913 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Immunodeficiency 47 |
|
Death in infancy, Prolonged neonatal jaundice, Hypotelorism |
OMIM:300972 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Depressed nasal bridge, Dental cro... |
OMIM:300990 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Recurrent pneumonia, Wide nasal bridge, Macroglossia, Thick verm... |
OMIM:617303 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Narrow ... |
ORPHA:2461 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Prominent nose, Brachycephaly, Abnormal periodontium morphology, High palat... |
ORPHA:480880 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:617914 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Ventriculomegaly, Cataract, Concave nasal ridge, Microphthalmia, Malar flattenin... |
OMIM:302960 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Wide nose, Apnea, Prominent occiput, High palate, Retrogna... |
ORPHA:79330 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short umbilical cord |
OMIM:618367 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Brachy... |
OMIM:619472 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Deeply set eye, Widely spaced teeth, A... |
ORPHA:2152 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Nasal polyposis, Sinusitis, Cutis marmorata, Malabsorption, Asthma, Respi... |
ORPHA:183 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotation, Cleft palate |
ORPHA:2326 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Wide nose, Recurrent upper respiratory tract infe... |
OMIM:607143 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Acrocyanosis, Tracheomalacia, Tented upper lip vermilion |
ORPHA:896 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Frontal bossing, Death in infancy, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:224690 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, ... |
OMIM:612292 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula |
OMIM:601492 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Dental crowding, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Hypertelorism, Abnormality of canin... |
ORPHA:477993 |
Tolchin-Le Caignec Syndrome |
|
Prominent nose, Micrognathia, Hypertelorism, Scaphocephaly, Oxycephaly, Wide nasal bridge, Submuc... |
OMIM:618971 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Decreased response to growth... |
ORPHA:293987 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ... |
OMIM:620278 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Hypertelorism, Micrognathia, Cleft lip, Developmental ... |
ORPHA:124 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Depressed nasal bridge, Increased circulating gonadotropin level, Wide nasal bridge, Microcornea,... |
OMIM:110100 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
6Q Terminal Deletion Syndrome |
|
Hypertelorism, Micrognathia, High, narrow palate, Plagiocephaly, Colpocephaly, Thick vermilion bo... |
ORPHA:75857 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow... |
OMIM:275210 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Micrognathia, Carious teeth, Cle... |
OMIM:117650 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Refsum Disease |
|
Microphthalmia, Cataract, Anosmia, Respiratory insufficiency |
ORPHA:773 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Cutis marmorata, Cleft upper lip, Cleft palate, Pulmonary arterial hypertension, M... |
OMIM:100300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi... |
ORPHA:1071 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Mgat2-Cdg |
|
Respiratory distress, Dental crowding, Hypertelorism, Dolichocephaly, Recurrent upper and lower r... |
ORPHA:79329 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Depressed nasal bridge, Midface retrusion |
OMIM:151210 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cataract |
OMIM:160900 |
Arthrogryposis, Distal, Type 3 |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Velocardiofacial Syndrome |
|
Posterior embryotoxon, Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velo... |
OMIM:192430 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Progeroid facial appearance, Microphthalmia, Cutaneous photosensitivity, Ventriculomegaly |
OMIM:610651 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Short nose, Long philtrum |
ORPHA:50810 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Micrognathia, Recurrent upper respiratory tract infections, Coloboma, Protein-l... |
OMIM:618183 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea |
ORPHA:3299 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Conjunctivitis, Hyperventilation |
ORPHA:79241 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Pneumonia, Carious teeth, Supernu... |
ORPHA:353281 |
Fucosidosis |
|
Corneal opacity, Abnormality of the dentition, Brachycephaly, Acrocyanosis, Vascular skin abnorma... |
ORPHA:349 |
Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, Conjunctivitis, Chylothorax, Recurrent corneal erosi... |
OMIM:153400 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Choanal atresia, Micrognathia, Cleft palate, Malar flattening |
OMIM:613309 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia |
ORPHA:93316 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard palate, Dyspnea, Clef... |
ORPHA:2636 |
Thauvin-Robinet-Faivre Syndrome |
|
Hypertelorism, Coloboma, Deeply set eye, Macroglossia, Retinal coloboma, Thick vermilion border, ... |
OMIM:617107 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Phace Syndrome |
|
Cataract, Heterochromia iridis, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalm... |
ORPHA:42775 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism |
OMIM:617660 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Wide nasal bridge |
OMIM:301018 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus |
ORPHA:26793 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Keratoconjunctivitis |
ORPHA:79242 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion |
ORPHA:1546 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation, Temporomandibular joint crepitus, Protruding tongue |
ORPHA:2388 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Cockayne Syndrome |
|
Deeply set eye, Lentiglobus, Abnormal dental morphology, Agenesis of permanent teeth, Abnormal co... |
ORPHA:191 |
Farber Disease |
|
Respiratory distress, Corneal opacity, Recurrent upper respiratory tract infections, Respiratory ... |
ORPHA:333 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Ventriculomegaly |
ORPHA:292 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Corneal opacity, Anteverted nares, Hypertelorism, Brachycephaly, Open mouth... |
OMIM:615273 |
Cockayne Syndrome Type 3 |
|
Cataract, Carious teeth, Microcornea, Deeply set eye, Keratoconjunctivitis sicca, Lentiglobus, Pr... |
ORPHA:90324 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Agenesis of corpus callosum |
OMIM:618733 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis |
OMIM:617478 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Wide nasal bridg... |
ORPHA:83617 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... |
OMIM:278730 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
U-Shaped upper lip vermilion, Craniosynostosis, Micrognathia, Parietal foramina, Hypertelorism, W... |
OMIM:609945 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... |
ORPHA:168572 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... |
OMIM:252010 |
Papillorenal Syndrome |
|
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia |
OMIM:120330 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Cataract... |
OMIM:609049 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Japanese Encephalitis |
|
Respiratory distress, Focal T2 hyperintense thalamic lesion, Respiratory paralysis, Abnormal thal... |
ORPHA:79139 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Mydriasis, Exaggerated cupid's bow, Downturned corners of mouth, Asp... |
ORPHA:2131 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Corneal erosion, Erythema, Tracheoes... |
ORPHA:537 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Cataract, Conical tooth, Keratitis, Erythema,... |
OMIM:308300 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Broad skull, Hydrocephalus, Pleural empyema, Cough, Exudative pl... |
ORPHA:228123 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Ventriculomegaly |
OMIM:620306 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea, Orofacial cleft, Hypertelorism |
ORPHA:3427 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis |
ORPHA:36234 |
Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submuc... |
ORPHA:69085 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypogeusia, Decreased sensitivity to hypoxemia, Corneal ulceration, Recurrent corneal erosions, A... |
OMIM:223900 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Jaundice, Esophageal varix, Bilateral ... |
OMIM:301068 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Duodenal atresia, Microphthalmi... |
OMIM:603467 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... |
ORPHA:79404 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea, Angioedema, As... |
ORPHA:3260 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Intrauterine growth retardation, Submucous cleft hard palate, Deeply set eye, Narrow nose |
OMIM:618891 |
Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Corneal scarring, Recurrent corneal erosions, Prolonged neonatal ... |
OMIM:256810 |
Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Hyperventilation, Wheezing, Tachypnea, Pneumothorax... |
ORPHA:90068 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Sub... |
ORPHA:805 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Hypertelorism, Bilateral microphthalmos, Development... |
ORPHA:93325 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Respiratory failure... |
OMIM:617666 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Conjuncti... |
ORPHA:95455 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Hydrocephalus, Polycoria, Developmental cataract, Hypoplasia of the iris, Microc... |
OMIM:175780 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Acrocyanosis, Heterochromia iridis |
ORPHA:1764 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Stomatitis |
OMIM:612852 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Pneumothorax, Prominent occiput, Resp... |
ORPHA:3404 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Coloboma |
ORPHA:47159 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Hypertelorism,... |
ORPHA:1662 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Wide nose, Anal stenosis, Prominent nasal bridge, Micrognathia, Promin... |
OMIM:606170 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Developmental glaucoma, Plagiocephaly, Prolonged neonatal jaundice, Acrocyanosis... |
ORPHA:51 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hypertelorism, Prominent nose, Erythema, Res... |
OMIM:614748 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Trismus, Asthma, Smooth tongue, Intrau... |
ORPHA:3206 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Intrauterine growth retardation, Jaundice, Death in infancy |
OMIM:617156 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Orofacial cleft |
ORPHA:17 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Developmental cataract |
OMIM:606519 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard palate, Prominent occ... |
ORPHA:3047 |
Q Fever |
|
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis |
ORPHA:533 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Pneum... |
ORPHA:31204 |
Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Sho... |
OMIM:182210 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat... |
ORPHA:287 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Cataract, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Chorio... |
ORPHA:857 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Apnea, Malabsorption, Abnormality of the dentition, Abnormality of the gingiva, Ging... |
ORPHA:285 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Intrauterine growth retardation, Bruising susceptibility |
OMIM:227645 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum... |
OMIM:617088 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Dandy-Walker malformation, Cataract, Anteverted nare... |
ORPHA:79318 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Lowe Oculocerebrorenal Syndrome |
|
Corneal scarring, Developmental cataract, Microphthalmia, Enamel hypoplasia, Dense posterior cort... |
OMIM:309000 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Bruising susceptibility |
OMIM:600901 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Neonatal respiratory distress, Downturned corners of mouth, Hypoplasia ... |
ORPHA:3164 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Bruising susceptibility |
OMIM:227650 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia, Developmental cataract, Thin vermilion border, Long ph... |
ORPHA:99646 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Cataract |
ORPHA:314404 |
Dermatomyositis |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A... |
ORPHA:221 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Umbilical hernia, Intrauterine growth retardation, ... |
ORPHA:2255 |
Plague |
|
Respiratory distress, Chapped lip, Enterocolitis, Acute infectious pneumonia, Inflammation of the... |
ORPHA:707 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Cyanosis, Tachypnea |
ORPHA:3384 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Developmental cataract |
OMIM:127000 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Cataract, Dorsocervical fat pad, Decreased res... |
ORPHA:64 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Leptospirosis |
|
Respiratory distress, Jaundice, Cough, Pleural effusion, Conjunctival hyperemia |
ORPHA:509 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |