Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Telecanthus |
|
Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Thomas Syndrome |
|
Cleft upper lip, Cleft palate, Dolichocephaly |
ORPHA:3316 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Midface retrusion |
OMIM:617768 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing, Dental crowding |
OMIM:619264 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long philtrum, Midface retru... |
OMIM:618577 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Deep philtrum, Orofacial cleft, Plagiocephaly, Incomplete cleft of the up... |
ORPHA:77300 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
X-Linked Intellectual Disability, Siderius Type |
|
Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocephaly |
OMIM:615433 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition |
OMIM:618603 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Tented upper lip vermilion |
OMIM:618008 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly, Thick vermilion border |
OMIM:619927 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Frontal bossing, Oligodontia, Thin upper lip vermilion |
OMIM:618330 |
Cebalid Syndrome |
|
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac... |
OMIM:618774 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Cleft lip, Narrow mouth, Cleft palate, Plagiocephaly, Downturned corners of mouth, Everted lower ... |
OMIM:618089 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita, Cleft palate, Edema |
OMIM:616570 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Pericardial effusion, Wide mouth, Long philtrum, Upturned corners of mouth |
OMIM:614684 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly |
ORPHA:2117 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium... |
OMIM:615524 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Thick lower lip vermilion,... |
OMIM:239850 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Macrodontia, Plagiocephaly, Tooth agenesis, Downturned corners of mouth, Short philtrum, Midface ... |
OMIM:618731 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoida... |
OMIM:607597 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly |
OMIM:618265 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc... |
OMIM:601357 |
Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum |
ORPHA:46 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, High palate, Cleft palate, Long philtrum |
ORPHA:251056 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip |
OMIM:601349 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Oligo... |
OMIM:614702 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Prominent occiput, Plagiocephaly, Downturned corners of mouth, Short philtrum, Dol... |
OMIM:618672 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Pericardial effusion, Wide mouth, Abnormal cardiac septum morphology, Long philtrum, Ascites |
OMIM:608776 |
Faciocardiorenal Syndrome |
|
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, Short philtrum |
OMIM:617808 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
Band Heterotopia |
|
Plagiocephaly, Hydrocephalus |
OMIM:600348 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis |
ORPHA:53271 |
Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Endocardial fibroelastosis, Pleural effu... |
ORPHA:60041 |
Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lower lip vermil... |
OMIM:616789 |
Muenke Syndrome |
|
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Coronal craniosynostosis, Midface... |
OMIM:602849 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect |
ORPHA:945 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly, Narrow palate |
OMIM:615516 |
Zechi-Ceide Syndrome |
|
Oligodontia, Midface retrusion, Cleft palate, Cleft upper lip |
OMIM:612916 |
Charlie M Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth |
ORPHA:1406 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Craniosynostosis, Abnormality of the dentition, Brachycephaly, Orofacial cleft, ... |
ORPHA:1520 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephaly, Microdontia |
OMIM:605282 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Plagiocephaly, High palate, Short philtrum,... |
OMIM:616579 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, Plagiocepha... |
OMIM:618430 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Thin upper lip vermilion, Brachycephaly, Plagiocephaly, Short philtrum, Open mou... |
OMIM:616801 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Dental malocclusion, Plagiocephaly, Ope... |
OMIM:619149 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula |
ORPHA:1993 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly |
OMIM:618862 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... |
OMIM:231060 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Frontal bossing, Tented upper lip vermilion, Exaggerated cupid's bow, Narrow mouth, Deep philtrum... |
OMIM:619720 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd... |
OMIM:239300 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Smooth philtrum, Long philtrum |
OMIM:618821 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Midface retrusion, Cleft palate |
OMIM:300261 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia |
OMIM:225060 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Hydrocephalus, Brachycephaly, Dolichocephaly |
ORPHA:272 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Narrow palate |
OMIM:617481 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Bifid uvula, Brachycephaly, Cleft palate, Cleft upper lip |
OMIM:300958 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Orofacial cleft, Polyhydramnios |
ORPHA:1027 |
Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly, Tented upper lip vermilion, High palate |
OMIM:620149 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects... |
OMIM:620070 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Cleft palate, Dolichocephaly |
ORPHA:3374 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia |
OMIM:119580 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, High palate, Cleft palate |
OMIM:300484 |
Intellectual Disability, Wolff Type |
|
Non-midline cleft lip, Thick lower lip vermilion, Abnormal intestine morphology, Orofacial cleft |
ORPHA:3080 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscular ventricula... |
OMIM:115197 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Plagiocephaly, Le... |
OMIM:614749 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Plagiocephaly, Downturned corners of mouth, Macroglossia, Wide mouth, High palate,... |
ORPHA:369891 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate |
OMIM:201550 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep phil... |
OMIM:612530 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion, Long philtrum |
OMIM:619721 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip |
ORPHA:1919 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Narrow palate, Plagiocephaly, Tooth agenesis, Multiple unerupted teet... |
ORPHA:2063 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... |
OMIM:618644 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Plagiocephaly, Wide mouth, High ... |
OMIM:618106 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip |
OMIM:613192 |
Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip |
OMIM:244600 |
Bresek Syndrome |
|
Plagiocephaly, Hydrocephalus, Aganglionic megacolon, Cleft palate |
ORPHA:85284 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
Hogue-Janssen Syndrome 2 |
|
Plagiocephaly, Hydrocephalus, Tented upper lip vermilion, Open mouth |
OMIM:616362 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Flexion contracture, Cardiomyopathy, Macroglossia, Calf muscle hyper... |
OMIM:613155 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal calvaria morphology, Holoprosencephaly |
ORPHA:1636 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Anal atresia |
OMIM:222748 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Houge-Janssens Syndrome 3 |
|
Frontal bossing, Plagiocephaly, High palate, Short philtrum, Umbilical hernia |
OMIM:618354 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina... |
ORPHA:85199 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil... |
ORPHA:163649 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Prominent occiput, Plagiocephaly, Downturned co... |
OMIM:617360 |
Holoprosencephaly 4 |
|
Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly |
OMIM:142946 |
Malan Overgrowth Syndrome |
|
Frontal bossing, Scaphocephaly, Plagiocephaly, High palate, Narrow mouth |
ORPHA:420179 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip |
OMIM:602418 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hypoplasia/a... |
OMIM:136760 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Plagiocephaly |
OMIM:607313 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Microphthalmia, Congenital muscular dyst... |
ORPHA:324416 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... |
OMIM:235510 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Plagioce... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Plagiocephaly, High palate, Short philtrum, Smooth philtrum |
OMIM:619188 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip |
OMIM:214300 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Cleft palate |
ORPHA:1779 |
Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:3210 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Cleft palate, Polyhydramnios |
ORPHA:261272 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Midface retrusion, Cleft palate |
OMIM:184840 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
Acrofrontofacionasal Dysostosis |
|
Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High palate, Mid... |
ORPHA:1784 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Hydrocephalus, Deep philtrum, Plagiocephaly,... |
OMIM:619833 |
Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Narrow palate, Plagiocephaly, Wide mouth, Thick vermilion border, High palate, Sho... |
OMIM:619435 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Plagiocephaly, Short philt... |
ORPHA:371364 |
Trisomy 20P |
|
Frontal bossing, Spina bifida, Abnormality of the dentition, Brachycephaly, Plagiocephaly, Downtu... |
ORPHA:261318 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Palate fistula, Midface... |
OMIM:616788 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft palate, Mitral valve p... |
OMIM:612561 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Tongue fasciculations |
ORPHA:544469 |
Trisomy 8Q |
|
Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... |
ORPHA:1752 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Brachycephaly, Cleft palate, Cleft upper lip |
OMIM:268850 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Brachycephaly, Plagiocephal... |
ORPHA:261652 |
Triploidy |
|
Polyhydramnios, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mouth, Macr... |
ORPHA:3376 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia |
OMIM:241800 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flat occiput, Tented upper lip vermilion, Plagiocephaly, Thick vermilion border, High palate, Lon... |
OMIM:619383 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly |
ORPHA:858 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, Narrow mouth, Bifid uvula |
OMIM:608572 |
Fg Syndrome Type 1 |
|
Dental crowding, Craniosynostosis, Abnormal large intestine morphology, Malrotation of colon, Pyl... |
ORPHA:93932 |
Pentasomy X |
|
Plagiocephaly |
ORPHA:11 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Scaphocephaly |
ORPHA:1143 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Micro... |
OMIM:618652 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Plagiocephaly |
OMIM:614563 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Non-midline cleft lip, Cleft palate, Spin... |
ORPHA:1908 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cleft palate, Plagiocephaly, ... |
ORPHA:457193 |
Holoprosencephaly 7 |
|
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Med... |
OMIM:610828 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Brachycephaly, Plagiocephaly, Anteriorly place... |
ORPHA:247262 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial... |
ORPHA:915 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Brachycephaly, Plagiocephaly, Short philtrum |
OMIM:617296 |
Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion |
ORPHA:1791 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, High palate, Skeletal muscle atrophy |
OMIM:620089 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Hydrocephalus, High palate, Camptodactyly, Arthrogryposis multiplex ... |
OMIM:617822 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi... |
OMIM:300887 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Edema, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Hypoplasti... |
OMIM:312150 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Plagioc... |
ORPHA:457279 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Biparietal narrowing, Cleft palate |
ORPHA:2305 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microph... |
ORPHA:1617 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival c... |
ORPHA:2189 |
Raine Syndrome |
|
Natal tooth, Protruding tongue, Hydrocephalus, Brachycephaly, Gingival overgrowth, Cleft palate, ... |
OMIM:259775 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Muscular dystrophy |
OMIM:614830 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cleft palate, Mi... |
OMIM:619122 |
Culler-Jones Syndrome |
|
Midface retrusion, Cleft palate, Cleft upper lip |
OMIM:615849 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Holoprosencephaly, Cleft palate |
ORPHA:2165 |
Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Spina bifida, High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Hig... |
OMIM:613776 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Macrodontia, Abnormal dental enamel morphology, Cleft palate, Plagiocephaly, Hypodontia |
ORPHA:2916 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Narrow mouth, Cleft palate, Plagiocephaly, Downturned corners of mouth, ... |
ORPHA:2215 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Plagiocephaly, Spina ... |
OMIM:619227 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Plagiocephaly, Umbilical hernia, Open mouth |
OMIM:617751 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Biparietal narrowing, Umbilical... |
ORPHA:1770 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Trigonocep... |
OMIM:243310 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly, Thin upper lip vermilion, Submucous cleft hard palate, Downturned corners of mouth |
OMIM:619680 |
Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly, Thick lower lip vermilion, Smooth philtrum |
OMIM:618792 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
Opitz-Kaveggia Syndrome |
|
Frontal bossing, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric... |
OMIM:305450 |
Noonan Syndrome 13 |
|
Plagiocephaly, Wide mouth, High palate, Widely spaced teeth, Long philtrum, Microdontia, U-Shaped... |
OMIM:619087 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Biparietal narrowing, Microdontia,... |
ORPHA:1915 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Holoprosencephaly, Brachycephaly, Craniosynostosis |
ORPHA:2163 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate, Narrow mouth |
ORPHA:2528 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Dental crowding, Cleft upper lip, Hydrocephalus, Bra... |
OMIM:612582 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Midface retrusion, Cleft palate |
ORPHA:1135 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Cleft upper lip |
OMIM:216100 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo... |
ORPHA:487825 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... |
ORPHA:1335 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Thin upper lip vermilion, Brachycephaly, Cleft palate, Plagiocephaly, Downturned... |
OMIM:610759 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum |
ORPHA:1252 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Umbilical hernia, Open mouth |
ORPHA:500159 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly |
OMIM:308350 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Spina bifida occulta... |
ORPHA:1787 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Craniosynostosis, Conical tooth, Parietal foramina, Brachycephaly, Widely spaced t... |
OMIM:613451 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Stomatitis |
OMIM:613011 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Opitz Gbbb Syndrome |
|
Frontal bossing, Anal atresia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... |
OMIM:300000 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na... |
ORPHA:3378 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip |
OMIM:244200 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... |
OMIM:618494 |
Holoprosencephaly 11 |
|
Cleft lip, Holoprosencephaly, Cleft palate |
OMIM:614226 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Ventricular septal defect |
OMIM:613730 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Cleft palate, Abnormal heart morphology, Small thenar eminence, Narrow mouth |
OMIM:239800 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate |
OMIM:258865 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Oral ulcer, Pleural effusion, Ascites |
ORPHA:93552 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower... |
ORPHA:1297 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med... |
OMIM:147250 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Short mandibular rami, EMG: myo... |
ORPHA:2549 |
Smith-Magenis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, ... |
ORPHA:819 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve... |
OMIM:618622 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Meningocele, Brachycephaly, Wide mouth, Median cleft palate |
ORPHA:1827 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft palate, Cleft upper lip |
OMIM:601076 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
Distal Deletion 10P |
|
Anal atresia, Non-midline cleft lip, Ectopic anus, Cleft palate |
ORPHA:1580 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Gingival bleeding, Abnormal myocardium morphology, Ascites |
ORPHA:77259 |
Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Brachycephaly, Impacted tooth, Downturned corners of mouth |
ORPHA:236 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... |
OMIM:264480 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Unilateral cleft lip, Brachycephaly |
ORPHA:2511 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Microphthalmia, Ventricular septal defect, Short philtrum |
ORPHA:93267 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy |
ORPHA:300751 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Oligodontia, Midface retrusion |
OMIM:618853 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Tooth agenesis, Cleft palate, Cleft upper lip |
OMIM:147950 |
Au-Kline Syndrome |
|
Craniosynostosis, Sagittal craniosynostosis, Lipomyelomeningocele, Dental malocclusion, Cleft pal... |
OMIM:616580 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, High palate, Oligohydramnios |
OMIM:619053 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
Intellectual Disability-Strabismus Syndrome |
|
Abnormality of the dentition, Plagiocephaly, Wide mouth, Thick vermilion border, High palate |
ORPHA:363528 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Pierpont Syndrome |
|
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... |
OMIM:602342 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... |
OMIM:616920 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Aganglionic megacolon, Hydrocephalus, Plagiocephaly, Short philtrum |
OMIM:613603 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal oral muc... |
ORPHA:2136 |
Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Camptodactyly of... |
ORPHA:1466 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Monosomy 18P |
|
Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Holoprosenc... |
ORPHA:1598 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Irregular dentition, Cleft palate, Smooth philtrum |
OMIM:615656 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Midface r... |
OMIM:229400 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Anterior plagiocephaly, Bicoronal ... |
OMIM:619718 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Atrial septal defect, Microphthalmia, Smooth philtrum |
OMIM:614526 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Naxos Disease |
|
Cleft upper lip |
ORPHA:34217 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners of mouth, Bran... |
ORPHA:453499 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Turricephaly, Plagiocephaly, Wide mouth, High palate, Short philtrum, Midface retrusion |
OMIM:620224 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... |
ORPHA:26793 |
Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Midface retrusion, Broad philtrum |
ORPHA:1394 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly |
ORPHA:96190 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Orofaciodigital Syndrome I |
|
Frontal bossing, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelomeni... |
OMIM:311200 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate |
ORPHA:66637 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, A... |
OMIM:619487 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate |
OMIM:164180 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, F... |
OMIM:212065 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Cleft palate, Abnormal heart ... |
ORPHA:404440 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Facial hypotonia, Ventricular septal defect, Thin vermilion borde... |
ORPHA:85194 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Open bite, Brachycephaly, Narrow palate, Cleft palate, Plagiocephaly |
ORPHA:794 |
Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Abnormal dental morphology, Abnormal dental en... |
ORPHA:861 |
Fibrochondrogenesis |
|
Plagiocephaly, Cleft palate, Narrow mouth |
ORPHA:2021 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Cl... |
OMIM:616897 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Alg9-Cdg |
|
Thin upper lip vermilion, Torticollis, Ventricular septal defect, Hypoplasia of the musculature, ... |
ORPHA:79328 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft, Cleft palate,... |
OMIM:601701 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... |
OMIM:614424 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Exaggerated cupid's bow, Spina bifida, Narrow mouth, Plagiocephaly, Thick vermil... |
OMIM:619480 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Flexion contracture, Elbow flexion contracture, Dehydra... |
OMIM:214150 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's... |
ORPHA:261236 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip |
OMIM:617926 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Brachycephaly, Plagiocephaly, Downturned corners of mouth, Macroglossia, Wide mo... |
OMIM:618268 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Cleft lip, Thick lower lip vermilion, Brachycephaly, ... |
OMIM:280000 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, Cleft lip, Narrow mout... |
OMIM:139210 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Exaggerated cupid's bow, Aqueductal stenosis, Narrow mouth, Hydrocephalus, Brach... |
OMIM:619512 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Dolichocephaly, High, narrow palate, Plagiocephaly, Long philtrum, Umbilical hernia |
ORPHA:1101 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Plagiocephaly, Long philtrum, Mid... |
ORPHA:56304 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Multiple joint contractures, Ventricular septal defect, Truncus arteri... |
ORPHA:96170 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate |
OMIM:601355 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Cleft upper lip, Deep philtrum, Cleft palate, High palate |
OMIM:206920 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth... |
OMIM:129400 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Plagiocephaly, High palate, Smooth philtrum, Long philtrum |
OMIM:300749 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Cleft palate, Atrial septal ... |
OMIM:244300 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate... |
ORPHA:435638 |
Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Clef... |
OMIM:619895 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... |
OMIM:618280 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Dental crowding, Plagiocephaly, High palate, Thick vermilion border, Dolichocephaly |
OMIM:619005 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Na... |
ORPHA:1272 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated... |
OMIM:252100 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Pericardial effusion, Tooth malposition, Narrow palate, Mitral valve prolapse, High p... |
ORPHA:536532 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Camptodactyly, Atrial septal de... |
OMIM:611961 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula |
OMIM:119500 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glossoptosis, High palate, Microglossia |
OMIM:254940 |
Hartsfield Syndrome |
|
Median cleft lip, Craniosynostosis, Alobar holoprosencephaly, Cleft upper lip, Cleft palate, Loba... |
OMIM:615465 |
Omodysplasia 2 |
|
Frontal bossing, Tented upper lip vermilion, Bilateral cleft lip, Cleft palate, Long philtrum |
OMIM:164745 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, Flat occiput, High palate, Normal pressure hydrocephalus |
ORPHA:300570 |
7Q31 Microdeletion Syndrome |
|
Plagiocephaly, Wide mouth, Long philtrum |
ORPHA:251061 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Congenital diaphragmatic hernia, Polyhydramnios, No... |
ORPHA:2059 |
Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Abnormal oral mucosa morphology, Abnormality of the philtrum, Brachycephaly |
ORPHA:2673 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi... |
OMIM:152950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus, Muscular dystrophy |
OMIM:613153 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Cleft upper lip |
ORPHA:96181 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Plagiocephaly, Downturned corners of mouth, Long philtrum, Smooth philtrum |
OMIM:618548 |
Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Cleft palate |
ORPHA:246 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia |
OMIM:614583 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Conical tooth, Abnormality of the dentition, Microphthalmia, Broad philtrum, Oligo... |
ORPHA:228390 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Cleft upper lip, Conical tooth, Cleft palate, Widely spaced teeth, Hypo... |
OMIM:106260 |
Gapo Syndrome |
|
Frontal bossing, High, narrow palate, Thick lower lip vermilion, Plagiocephaly, Eruption failure,... |
OMIM:230740 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Frontal bossing, Widely spaced teeth, Tongue fasciculations |
OMIM:617193 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Long philtrum |
ORPHA:2211 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the... |
OMIM:616300 |
3Mc Syndrome 2 |
|
Craniosynostosis, Cleft upper lip, Cleft palate, Downturned corners of mouth, Skull asymmetry, Hi... |
OMIM:265050 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Tented philtrum, Brachycephaly, Plagiocephaly, Thin vermilion border, Esophagitis, Narrow mouth |
ORPHA:495818 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... |
ORPHA:370959 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Holoprosencephaly 9 |
|
Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilateral... |
OMIM:610829 |
Joubert Syndrome 1 |
|
Protruding tongue, Occipital myelomeningocele, Plagiocephaly, Macroglossia, Triangular-shaped ope... |
OMIM:213300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Increased variability in muscle fiber diameter, Cl... |
OMIM:613150 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Short lingual frenulum, Craniosynostosis, Plagiocephaly, Wide mouth, High palate |
ORPHA:1521 |
Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Hydrocephalus, Cleft palate, Non-midline cleft lip |
ORPHA:2075 |
Cranioectodermal Dysplasia 2 |
|
Frontal bossing, Cloverleaf skull, Craniosynostosis, Cleft palate, Plagiocephaly, Broad philtrum,... |
OMIM:613610 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly, Microdontia |
OMIM:261990 |
Galloway-Mowat Syndrome 4 |
|
Plagiocephaly |
OMIM:617730 |
Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Cleft upper lip, Cleft palate, Downturned corners of mouth, Short philt... |
OMIM:601808 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Cleft ... |
OMIM:619148 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia |
OMIM:201180 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Polyhydramnios |
ORPHA:2547 |
Constricting Bands, Congenital |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:217100 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... |
OMIM:301043 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Cleft palate, Narrow mouth |
ORPHA:1234 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos |
OMIM:619318 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Widely spaced teeth, Camptodactyly, Microdontia, Microphthalmia |
OMIM:619694 |
Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Non-midline cleft lip, Abnormal palate morphology |
ORPHA:245 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, L... |
OMIM:618571 |
Osteopathia Striata With Cranial Sclerosis |
|
Frontal bossing, Anal stenosis, Natal tooth, Dental crowding, Intestinal malrotation, Cleft upper... |
OMIM:300373 |
3Mc Syndrome 1 |
|
Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Skull asymmetry, Lambdoidal craniosyno... |
OMIM:257920 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Craniosynostosis, Carious teeth, Hydrocephalus, Dentinogenesis imperfecta, Plagi... |
ORPHA:536467 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Holoprosencephaly 3 |
|
Proboscis, Cleft lip, Cleft palate, Holoprosencephaly, Midface retrusion, Solitary median maxilla... |
OMIM:142945 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Brachycephaly, Wide mouth, Posterior plagiocephaly, Duodenal atresia |
OMIM:617798 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Hydrocephalus, Holoprosencephaly, Median clef... |
OMIM:612651 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her... |
OMIM:614294 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate |
OMIM:603194 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Narrow mouth, Plagiocephaly, Macroglossia, High palate, Long philtrum |
OMIM:613457 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Everted lower lip vermilion |
OMIM:615471 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Thin vermilion border, Narrow mouth |
OMIM:600118 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Skeletal muscle atrophy |
OMIM:617255 |
Doors Syndrome |
|
Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia |
ORPHA:77298 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate... |
ORPHA:251038 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Plagiocephaly,... |
ORPHA:50 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Narrow palate, Broad alveolar ri... |
OMIM:605039 |
Ring Chromosome 7 Syndrome |
|
Brachycephaly, Cleft palate, Plagiocephaly, Thin vermilion border, Short philtrum, Holoprosenceph... |
ORPHA:1449 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Umbilical hernia, Joint contracture of the 4th finger, Join... |
OMIM:618914 |
Cleidocranial Dysplasia 2 |
|
Plagiocephaly, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Brachycephaly, Gingival overgrowth, Alveolar ridge overgrowth, Plagioc... |
OMIM:301072 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... |
ORPHA:1848 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Cleft upper lip, Parietal foramina, Brachycephaly, Cleft palate, U-Shaped upper li... |
OMIM:603671 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Ventricular septal defect, Polyhydramnios, Edema, Hamartoma of ton... |
OMIM:269860 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Temtamy Syndrome |
|
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology |
ORPHA:1777 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Curved linear dimple below the lower lip, Hypodontia, Broad philtrum |
OMIM:305400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate... |
OMIM:616449 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial septal defect, Microp... |
ORPHA:2728 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, H... |
OMIM:100300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Plagiocephaly, Hydrocephalus, Brachycephaly |
ORPHA:500055 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Orofacial cleft |
ORPHA:2328 |
Adnp Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Brachycephaly, Plagiocephaly, Advanced erupt... |
ORPHA:404448 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Narrow mouth, Submucous cleft hard palate, Gingival cleft, Cleft palat... |
ORPHA:2588 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Camptod... |
ORPHA:99776 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur... |
OMIM:253800 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Dextrocardia, High, narrow palate, Narrow mouth, Cleft palate, Congenital ... |
OMIM:248700 |
Duane Retraction Syndrome |
|
Plagiocephaly, Spina bifida occulta, Everted lower lip vermilion, Cleft palate |
ORPHA:233 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un... |
OMIM:619103 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Cleft palate |
ORPHA:1300 |
Trisomy 18 |
|
Spina bifida, Esophageal atresia, Narrow mouth, Non-midline cleft lip, Anencephaly, Cleft palate,... |
ORPHA:3380 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Aniridia, Microphthalmia, Ascites, Ankyloglossia |
OMIM:602361 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the... |
OMIM:616331 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus... |
OMIM:109400 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Saethre-Chotzen Syndrome |
|
Parietal foramina, Oxycephaly, Brachycephaly, Narrow palate, Cleft palate, Plagiocephaly, Skull a... |
OMIM:101400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve... |
OMIM:618874 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, Brachyceph... |
ORPHA:2785 |
Vacterl/Vater Association |
|
Occipital encephalocele, Non-midline cleft lip, Anencephaly, Tracheoesophageal fistula, Cleft pal... |
ORPHA:887 |
Linear Nevus Sebaceus Syndrome |
|
Prominent occiput, Frontal bossing, Plagiocephaly, Biparietal narrowing |
ORPHA:2612 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Limb hypertonia, Oligohydramnios |
OMIM:614219 |
Turnpenny-Fry Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Dental ... |
OMIM:618371 |
Craniofrontonasal Syndrome |
|
Frontal bossing, Cleft upper lip, Abnormality of the dentition, Brachycephaly, Cleft palate, Umbi... |
OMIM:304110 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Polyhydramnios, Spina bifida, Swollen lip, Cleft uppe... |
OMIM:256520 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Plagiocephaly, Widely spaced teeth |
ORPHA:496641 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Acute rhabdomyolysis |
ORPHA:48431 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou... |
OMIM:615873 |
Chédiak-Higashi Syndrome |
|
Edema, Pericardial effusion, Periodontitis, Gingival bleeding, Pleural effusion, Atrophy of alveo... |
ORPHA:167 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra... |
OMIM:610758 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Gingival bleeding, Right ventricular hypertrophy |
ORPHA:335 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft upper lip, Cleft palat... |
ORPHA:2008 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia |
OMIM:614105 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Hydrocephalus, Orofacial cleft, Cleft palate, Abnormal cardiac sep... |
ORPHA:2166 |
Steinfeld Syndrome |
|
Abnormal heart morphology, Holoprosencephaly, Microphthalmia, Bifid uvula, Median cleft lip and p... |
OMIM:184705 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Dilated cardiomyopathy, Cleft pal... |
OMIM:242840 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Hydrocephalus, Brachycephaly, Narrow... |
OMIM:605627 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... |
ORPHA:1692 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Duodenal ulcer, Intestinal ... |
OMIM:135900 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia,... |
OMIM:164200 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Joint contractur... |
OMIM:620098 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Hypotrophy of the small hand m... |
OMIM:610443 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate |
OMIM:607361 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Orofa... |
ORPHA:268249 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Plagiocephaly, High palate, Dental crowding, Open bite |
OMIM:620083 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Malrotation of colon, High,... |
OMIM:122470 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate |
OMIM:619339 |
Zaki Syndrome |
|
Wide mouth, Median pseudocleft lip, High palate, Short philtrum |
OMIM:619648 |
Arboleda-Tham Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cleft palate... |
OMIM:616268 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cong... |
ORPHA:2162 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever... |
ORPHA:65286 |
Orofaciodigital Syndrome Type 1 |
|
Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Ha... |
ORPHA:2750 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, High, narrow palate, Plagiocephaly, W... |
ORPHA:466791 |
Cat Eye Syndrome |
|
Ventricular septal defect, Cleft palate, Umbilical hernia, Hypoplastic left heart, Total anomalou... |
OMIM:115470 |
Oculodentodigital Dysplasia |
|
Median cleft lip, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious tee... |
ORPHA:2710 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow mouth, Cleft palate, Wide mouth, Oligodont... |
OMIM:272950 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft palate |
OMIM:263750 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At... |
OMIM:613001 |
Alg12-Cdg |
|
Thin upper lip vermilion, Intestinal malrotation, Posterior plagiocephaly, Short philtrum, Midfac... |
ORPHA:79324 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Thin upper lip vermilion, Agenesis of incisor, Plag... |
OMIM:619841 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Thin vermilion border, Long philtrum |
ORPHA:1438 |
6Q Terminal Deletion Syndrome |
|
High, narrow palate, Plagiocephaly, Thick vermilion border, Dolichocephaly, Broad philtrum |
ORPHA:75857 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Trach... |
ORPHA:2538 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Fryns Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Polyhydramnios, Cleft upper lip, Cleft pal... |
OMIM:229850 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:33001 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect, Thin upper lip vermilion |
OMIM:619135 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia |
ORPHA:3301 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Limb hypertonia |
OMIM:615846 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Larsen Syndrome |
|
Frontal bossing, Cleft upper lip, Cleft palate, Hypodontia, Spina bifida occulta, Midface retrusion |
OMIM:150250 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Hydrocephalus, Open mouth |
ORPHA:457284 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia, Oligohydramnios |
OMIM:251230 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Single ventricle, Holoprosencephaly, Micr... |
OMIM:619879 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Ascites, Microphthalmia, Tetra... |
ORPHA:974 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Moebius Syndrome |
|
Abnormality of the dentition, Congenital fibrosis of extraocular muscles, Facial diplegia, High p... |
OMIM:157900 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Short uvula, Plagiocephaly, Broad p... |
OMIM:619475 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum |
ORPHA:163966 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... |
ORPHA:193 |
Nail-Patella Syndrome |
|
Cleft palate, Spina bifida, Cleft upper lip |
OMIM:161200 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion |
OMIM:617883 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f... |
OMIM:609053 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Hydrocephalus, Midface retrusion, Abnormal palate morphology |
ORPHA:3042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Flexion contracture, Muscular dystrophy, Microphthalmia |
OMIM:615249 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion border... |
ORPHA:1106 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal... |
OMIM:236670 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:899 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Umbilical hernia, Wide mouth, Median pseudocleft lip |
OMIM:619758 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Cleft upper lip, Cleft palate, Holoprosencephaly, Neonata... |
OMIM:146510 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, High, narrow pala... |
ORPHA:464738 |
Faundes-Banka Syndrome |
|
Plagiocephaly, Frontal bossing, Thin upper lip vermilion, Cleft palate |
OMIM:619376 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... |
OMIM:236680 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Plagiocephaly, Glossoptosis, Macroglossia, Downturned corners of mouth,... |
ORPHA:444077 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Craniosynostosis, Cleft upper lip, Gingival overgrowth, Brachycephaly, Microdontia of primary tee... |
OMIM:213980 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Cleft palate, Basal encephalocele, Cranium bifidum occult... |
ORPHA:391474 |
Nance-Horan Syndrome |
|
Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
3Mc Syndrome 3 |
|
Cleft palate, Cleft upper lip |
OMIM:248340 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Frontal bossing, Tented upper lip vermilion, Large placenta, Deep philtrum, Spinal dysraphism, Pl... |
ORPHA:96334 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Micro... |
OMIM:263520 |
Temtamy Syndrome |
|
Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth |
OMIM:218340 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Cleft upper lip, Aqueductal stenosis, Hydrocephalus, Velopharyngeal insuff... |
OMIM:154400 |
Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... |
ORPHA:63259 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Brachycephaly, Posterior plagiocephaly,... |
OMIM:620330 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft up... |
OMIM:249000 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Bilateral microphthalmo... |
OMIM:601186 |
Wolf-Hirschhorn Syndrome |
|
Frontal bossing, Abnormality of the philtrum, Cleft upper lip, Cleft palate, Downturned corners o... |
ORPHA:280 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Umbilical hernia, High palate... |
OMIM:613884 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Median cleft lip, Orofacial cleft, Holoprosencephaly, Microphthalmia, Tetralogy... |
ORPHA:3186 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Narrow mouth, Flexion contracture, Long philtrum, Microphthalmia |
OMIM:615663 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Camptodactyly of fin... |
ORPHA:2092 |
Degcags Syndrome |
|
Jejunal atresia, Craniosynostosis, Protruding tongue, Hiatus hernia, Pyloric stenosis, Plagioceph... |
OMIM:619488 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Deep philtrum, Cleft palate, Downturned corne... |
ORPHA:251014 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Hydrocepha... |
ORPHA:564 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Median cleft lip and palate |
ORPHA:2213 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of... |
OMIM:300166 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Narrow mouth, Hy... |
ORPHA:77301 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Hydrocephal... |
OMIM:219000 |
Microphthalmia, Syndromic 6 |
|
Brachycephaly, Cleft palate, Plagiocephaly, Bifid uvula, High palate, Lambdoidal craniosynostosis... |
OMIM:607932 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Narrow mouth, Pierre-... |
OMIM:616145 |
Fraser Syndrome |
|
Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclu... |
ORPHA:2052 |
H Syndrome |
|
Hydrocephalus, Malabsorption, Gingival overgrowth, Cleft upper lip |
ORPHA:168569 |
Distal Deletion 12Q |
|
Frontal bossing, Median cleft lip, Esophageal atresia, High, narrow palate, Supernumerary tooth, ... |
ORPHA:96149 |
Refsum Disease |
|
Microphthalmia, Skeletal muscle atrophy, Cardiomyopathy |
ORPHA:773 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Cleft palate, Muscular dystrophy... |
ORPHA:1052 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Clef... |
OMIM:309801 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Hypoplasia of the primary teeth, Dental malocclusion,... |
OMIM:257850 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, High palate, Long philtrum, Microphthalmia, An... |
ORPHA:250989 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:600460 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition |
OMIM:212720 |
Roberts Syndrome |
|
Craniosynostosis, Cleft upper lip, Brachycephaly, Cleft palate, High palate |
ORPHA:3103 |
Atelis Syndrome 2 |
|
Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned corners of mouth,... |
OMIM:620185 |
8Q21.11 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition, Downturned corner... |
ORPHA:284160 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Microphthalmia, Congenital ... |
ORPHA:137675 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Agenesis of permanent teeth |
OMIM:617244 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Flexion contracture, Stillbirth, Abnormal cardiac septum morphology, Umbilical h... |
OMIM:308050 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula |
OMIM:241410 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion, Abnormal salivary gland morphology |
OMIM:181000 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wide mouth, Myopathy, Stillbirth, Microphtha... |
OMIM:243605 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, M... |
OMIM:616538 |
Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita... |
ORPHA:220386 |
Diamond-Blackfan Anemia 1 |
|
Cleft upper lip, Parietal foramina, Cleft palate, High palate, Colon cancer, Spina bifida occulta |
OMIM:105650 |
Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly |
ORPHA:45358 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Microphthalmia, Natal tooth, Eclabion |
OMIM:616395 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Flexion contracture, Macular hypoplasia, Holoprosenceph... |
OMIM:147791 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Edema, Cardiomegaly, Pericardial effusion, Polyhydramnios, Hydrops fetal... |
ORPHA:51608 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology |
ORPHA:1352 |
Joubert Syndrome 37 |
|
Microphthalmia, High palate |
OMIM:619185 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Flexion contracture, Narrow palate, Downturned corners of mouth, Microphth... |
OMIM:614222 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... |
OMIM:300952 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Anal atresia |
OMIM:251260 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Thi... |
ORPHA:2839 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Cleft palate, Cleft upper lip |
OMIM:273395 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
Mend Syndrome |
|
Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Micr... |
ORPHA:401973 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Facial palsy, Polyhydramnios, Cleft upper lip, Aqueducta... |
ORPHA:138 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Premature loss of primary teeth, High, n... |
ORPHA:3472 |
Peters Plus Syndrome |
|
Frontal bossing, Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upp... |
ORPHA:709 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long philtrum, Atrial septa... |
ORPHA:2526 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Optic disc hypoplasia, Facial palsy, Spina bifida occulta, Small thena... |
OMIM:607323 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ... |
OMIM:614230 |
Galloway-Mowat Syndrome 3 |
|
Edema, Narrow mouth, High palate, Camptodactyly, Microphthalmia, Oligohydramnios |
OMIM:617729 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Single ventricle, Microphthalmia, Ethmocephaly, Median cleft lip and pa... |
OMIM:236100 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Kyphomelic Dysplasia |
|
Cleft palate, Cleft upper lip |
OMIM:211350 |
Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... |
ORPHA:2563 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... |
OMIM:157170 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia |
ORPHA:3412 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Vent... |
ORPHA:508498 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl... |
OMIM:129900 |
Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Myocarditis, Gingival bleeding, Ascites, Parotitis |
ORPHA:99827 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger |
OMIM:610756 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
Simpson-Golabi-Behmel Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... |
ORPHA:373 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Spina bifida, Cleft upper lip |
OMIM:304050 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Complete atrioventricular canal defect, Cleft lip, Cleft palate... |
OMIM:617925 |
Gitelman Syndrome |
|
Pericardial effusion, Rhabdomyolysis |
ORPHA:358 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia |
OMIM:156610 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Protruding to... |
OMIM:612289 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Facial palsy, Polyhydramnios, Carious teet... |
OMIM:620186 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Microphthalmia, Polyhydramnios |
OMIM:603467 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Wolf-Hirschhorn Syndrome |
|
Cleft upper lip, Hydrocephalus, Malrotation of small bowel, Cleft palate, Orofacial cleft, Short ... |
OMIM:194190 |
Cousin Syndrome |
|
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Camptodactyly, Hydranencephaly, Microphth... |
OMIM:260660 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
Peters-Plus Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosyn... |
OMIM:261540 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short philtrum, Atrial septal defect, Abnormal dental enamel morphology, Spina bi... |
ORPHA:567 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Thin upper lip vermilion, Carious teeth, Deep philtrum, Plagiocephaly, Skull a... |
OMIM:150230 |
Ohdo Syndrome, X-Linked |
|
Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia, Microphthalmi... |
OMIM:300895 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
Bartsocas-Papas Syndrome 1 |
|
Cleft upper lip, Patent foramen ovale, Flexion contracture, Cleft palate, Microphthalmia, Arthrog... |
OMIM:263650 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Phace Association |
|
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,... |
OMIM:604292 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Narrow philtrum, Corneal stromal edema, Thin vermilion border, Microph... |
OMIM:601812 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Unilateral microphthalmos |
OMIM:615085 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Hydrocephalus,... |
OMIM:305600 |
Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Facial palsy, Secundum... |
OMIM:214800 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Frontal bossing, Cleft upper lip, Hydrocephalus, Submucous cleft hard palate, Brachycephaly, Orof... |
OMIM:607872 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Narrow ... |
OMIM:309500 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Anal atresia |
ORPHA:647 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cleft palate, Pectoral muscle hypoplasia/aplasia, Cranium bifidum occult... |
ORPHA:306542 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Abnormal dental enamel mo... |
ORPHA:534 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Pierson Syndrome |
|
Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the... |
OMIM:609049 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Wide mouth, High palate, Camptodactyly, Microphthalmia, Joint contracture... |
OMIM:251300 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Polyhydramnios, Edema |
OMIM:302960 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Lip pit |
OMIM:601707 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microp... |
OMIM:616975 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Fanconi Anemia |
|
Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of... |
ORPHA:84 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,... |
OMIM:154500 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary tooth, Hypodontia, Atrio... |
OMIM:617088 |
Aicardi-Goutières Syndrome |
|
Plagiocephaly |
ORPHA:51 |
Micro Syndrome |
|
Microphthalmia, High palate, Short philtrum |
ORPHA:2510 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Agenesis of canine, Orofacial cl... |
ORPHA:141099 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Flexion contracture, High palate |
ORPHA:35173 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Muscular ventricular septal defect,... |
OMIM:612474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Muscular dystrophy, Microphthalmia |
OMIM:614643 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... |
ORPHA:464 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Hypodontia, Microphthalmia, Abnormal palate morphology |
ORPHA:1236 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Exaggerated median tongue ... |
OMIM:312870 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Cleft upper lip, Hydrocepha... |
OMIM:268300 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Abnormal heart morphology |
OMIM:600901 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, High palate |
OMIM:608091 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microdontia, Thick vermilion border, Atrial septal defect, Microphthalmia, Patent foramen ovale, ... |
OMIM:620005 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Abnormal heart morphology |
OMIM:227650 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... |
ORPHA:2152 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:223370 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Flexion contracture, Ventricular septal defect |
OMIM:227645 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Hydrocephalus, ... |
ORPHA:2556 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Triangular mouth, Flexion contracture |
OMIM:601675 |
Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Liver Disease, Severe Congenital |
|
Plagiocephaly, Umbilical hernia, Protein-losing enteropathy, Chronic gastritis |
OMIM:619991 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Pmm2-Cdg |
|
Thin upper lip vermilion, Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effu... |
ORPHA:79318 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular... |
ORPHA:508488 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculatur... |
OMIM:164210 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Wide mouth |
OMIM:614207 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Flexion contracture |
OMIM:614225 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Fraser Syndrome 2 |
|
Microphthalmia, Narrow mouth, Oligohydramnios |
OMIM:617666 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Knee flexion contracture, Thin vermilion border, High palate, Total anomalous pulmon... |
OMIM:609945 |
Branchiooculofacial Syndrome |
|
Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, Pyloric steno... |
OMIM:113620 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia |
OMIM:603457 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, ... |
ORPHA:93271 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Abnormal heart morphology |
OMIM:227646 |
Trichothiodystrophy |
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Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Bilat... |
ORPHA:33364 |
Hallermann-Streiff Syndrome |
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Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Scapular winging, Short uvula, Lens coloboma, Submucous cleft hard palat... |
OMIM:619539 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia, Cleft palate, High, narrow palate |
ORPHA:2714 |
Monosomy 9P |
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Congenital diaphragmatic hernia, Abnormality of the dentition, Cleft palate, High palate, Narrow ... |
ORPHA:261112 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Generalized muscle hypertrophy, Submucous c... |
OMIM:235730 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Rothmund-Thomson Syndrome, Type 2 |
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Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Agenesis of permanent teeth,... |
OMIM:268400 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, High palate |
OMIM:110100 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Pallister-Hall Syndrome |
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Natal tooth, Ventricular septal defect, Accessory oral frenulum, Cleft lip, Microglossia, Cleft p... |
ORPHA:672 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Hydrocephalus, Cleft palate |
OMIM:614083 |
Acro-Renal-Ocular Syndrome |
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Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia |
ORPHA:959 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Carious teeth, Flexion contracture, Cardiomyopathy, Microphthalmia, Enam... |
ORPHA:90324 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Bicuspid aortic valve, Dental crowding, Cleft upper lip, High, narrow palate, Orofa... |
OMIM:309800 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Plagiocephaly |
OMIM:613355 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture, Camptodactyly of ... |
ORPHA:468631 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Thin upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Hig... |
OMIM:613406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Muscular dystr... |
OMIM:253280 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Thin upper lip vermilion, Carious teeth, Cleft palate, Narrow mouth, Microdontia, Microphthalmia |
OMIM:616734 |
Cockayne Syndrome B |
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Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop... |
OMIM:133540 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Cockayne Syndrome |
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Skeletal muscle atrophy, Abnormal dental morphology, Delayed eruption of primary teeth, Carious t... |
ORPHA:191 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, High palate, Bifid uvula, Dental malocclusion |
OMIM:601552 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B... |
ORPHA:261537 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B... |
ORPHA:261552 |
Monosomy 13Q14 |
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Microphthalmia, Holoprosencephaly |
ORPHA:1587 |
Townes-Brocks Syndrome |
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Abnormal pulmonary valve morphology, Wide mouth, Abnormal cardiac septum morphology, Atrial septa... |
ORPHA:857 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Bilateral microphthalmos, Persistence of primary teeth |
ORPHA:93325 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Enamel hypoplasia, Joint contracture of the hand, Camptodactyly of finger |
OMIM:309000 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Facial paralysis |
OMIM:175780 |