| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip |
ORPHA:401942 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Telecanthus |
|
Bilateral cleft lip and palate, Anodontia |
OMIM:187350 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
| Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Parietal Foramina 1 |
|
Cleft upper lip, Encephalocele, Cleft palate, Parietal foramina |
OMIM:168500 |
| Anencephaly 2 |
|
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Prominent occiput, Frontal bossing, Encephalocele, Platybasia |
ORPHA:217 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip |
ORPHA:1991 |
| Choanal Atresia And Lymphedema |
|
High palate, Lymphedema, Pericardial effusion |
OMIM:613611 |
| Thomas Syndrome |
|
Cleft upper lip, Dolichocephaly, Cleft palate |
ORPHA:3316 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:601420 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Midface retrusion, Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
| Diprosopus |
|
Anencephaly, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Cleft palate, Anencephaly, Non-midline cleft lip, Spina bifida |
ORPHA:2476 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Plagiocephaly, Alobar holoprosencephaly, High, narrow palate, Dolichocephaly, Short ... |
OMIM:615433 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Plagiocephaly, Cleft palate, Short philtrum, Downturned corners of mouth |
ORPHA:94066 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
| Mmep Syndrome |
|
Ventricular septal defect, Oral cleft, Median cleft lip, Microphthalmia |
ORPHA:3434 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate |
OMIM:223200 |
| Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Flat occiput, Plagiocephaly, Brachycephaly |
ORPHA:2898 |
| Palant Cleft Palate Syndrome |
|
Exaggerated cupid's bow, Cleft palate |
OMIM:260150 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Cleft palate |
OMIM:615656 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Frontal bossing, Cleft palate |
OMIM:311895 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Long philtrum, Broad philtrum, Brachycephal... |
OMIM:618577 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Arthrogryposis multiplex congenita, Edema, Microphthalmia |
OMIM:616570 |
| Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Trigonocephaly, Cleft palate, Craniosynostosis |
OMIM:618265 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... |
OMIM:226440 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Plagiocephaly, Intestinal malrotation, Oral cleft, Deep philtrum |
ORPHA:77300 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Gonadal dysgenesis, xy type, with associated anomalies |
|
Cleft upper lip, Oral cleft, Abnormal heart morphology |
OMIM:233430 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Dental crowding, Frontal bossing, Plagiocephaly |
OMIM:619264 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palat... |
OMIM:601165 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Oral cleft |
ORPHA:85287 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Cleft palate, Non-midline cleft lip |
ORPHA:1072 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion |
ORPHA:2016 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Tented upper lip vermilion |
OMIM:618008 |
| Cebalid Syndrome |
|
High palate, Plagiocephaly, Platystencephaly, Dolichocephaly, Brachycephaly, Midface retrusion, T... |
OMIM:618774 |
| Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum |
OMIM:225000 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
High palate, Plagiocephaly, Tooth malposition, Cleft palate, Brachycephaly |
OMIM:618603 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Thick vermilion border, Posterior plagiocephaly |
OMIM:619927 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate |
OMIM:119540 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... |
ORPHA:1041 |
| Xk Aprosencephaly Syndrome |
|
Narrow mouth, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Microphthalmia |
ORPHA:3469 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Wide mouth, Long philtrum, Thin upper lip vermilion, Pericardial effusion, Upturned corners of mouth |
OMIM:614684 |
| X-Linked Intellectual Disability, Abidi Type |
|
Cleft palate, Non-midline cleft lip |
ORPHA:85273 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Plagiocephaly, Umbilical hernia |
OMIM:618354 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... |
OMIM:239850 |
| Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Unilateral cleft lip, Encepha... |
ORPHA:63862 |
| Hartsfield Syndrome |
|
Cleft palate, Craniosynostosis, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Cleft palate, Non-midline cleft lip |
ORPHA:1484 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Occipital encephalocele, Anencephaly, Cleft palate |
OMIM:611561 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Tooth agenesis, Short philtrum, Macrodontia, Downturned corners of mouth, Midface ... |
OMIM:618731 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Flat occiput, Thin upper lip vermilion, Brachycephaly, Smooth philtrum |
ORPHA:46 |
| Acrofacial Dysostosis, Palagonia Type |
|
Cleft upper lip, Oligodontia, Unilateral cleft lip, Spina bifida occulta at S1 |
OMIM:601829 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoidal encephalocele, ... |
OMIM:607597 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Muenke Syndrome |
|
Hydrocephalus, Plagiocephaly, High, narrow palate, Coronal craniosynostosis, Brachycephaly |
ORPHA:53271 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Brachycephaly, Thick lower lip vermilion |
OMIM:309545 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| 6Q25 Microdeletion Syndrome |
|
High palate, Plagiocephaly, Long philtrum, Cleft palate |
ORPHA:251056 |
| Faciocardiorenal Syndrome |
|
Narrow mouth, Plagiocephaly, Hypodontia, Cleft palate, Smooth philtrum |
ORPHA:1973 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Dolichocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Br... |
OMIM:618672 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Cleft palate, Bifid uvula, Unilateral cleft lip, Cleft soft palate |
ORPHA:2736 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Widely-spaced maxillary central incisors, Cleft palate, Oral cleft |
OMIM:601349 |
| Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Spina bifida occulta, Turricephaly |
OMIM:616602 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Plagiocephaly, Macroglossia, Everted lower lip vermilion, Frontal bossing, Open mouth... |
OMIM:616789 |
| Coffin-Siris Syndrome 6 |
|
Plagiocephaly, High, narrow palate, Cleft palate, Short philtrum, Deep philtrum, Frontal bossing |
OMIM:617808 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Wide mouth, Long philtrum, Edema, Ascites, Pericardial effusion |
OMIM:608776 |
| Muenke Syndrome |
|
High palate, Dental malocclusion, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface... |
OMIM:602849 |
| Acalvaria |
|
Hydrocephalus, Calvarial skull defect, Cleft palate, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Narrow mouth, Plagiocephaly, Everted lower lip vermilion, Long philtrum, Downturned corners of mouth |
OMIM:618089 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Microphthalmia |
OMIM:615297 |
| Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp |
OMIM:605282 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Encephalocele, Cleft palate |
OMIM:613885 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly, Narrow palate |
OMIM:615516 |
| Zechi-Ceide Syndrome |
|
Cleft upper lip, Oligodontia, Midface retrusion, Cleft palate |
OMIM:612916 |
| Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Non-midline cleft lip |
ORPHA:1406 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Long philtrum, Tented upper lip vermilion |
OMIM:619972 |
| Craniofrontonasal Dysplasia |
|
High palate, Plagiocephaly, Craniosynostosis, Abnormality of the dentition, Oral cleft, Frontal b... |
ORPHA:1520 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
High palate, Plagiocephaly, Everted lower lip vermilion, Short philtrum, Tented upper lip vermili... |
OMIM:616579 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Anal atresia, Hypodontia, Neural tube defect, Conical tooth |
OMIM:119580 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Downturned corners of mouth, Frontal bossing, Tented upper lip verm... |
OMIM:618430 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Plagiocephaly, Frontal bossing, Open mouth, Scaphocephaly, Thin upper lip ve... |
OMIM:619149 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Open mouth, Brachycepha... |
OMIM:616801 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Hydrocephalus, Plagiocephaly, Cleft palate, Short philtrum, Abnormal rectum morp... |
OMIM:239300 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dolichocephaly, Hydrocephalus, Brachycephaly, Plagiocephaly |
ORPHA:272 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
High palate, Brachycephaly, Plagiocephaly, Thin upper lip vermilion |
OMIM:618862 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Wide mouth, Narrow mouth, Plagiocephaly, Everted lower lip vermilion, Long philtrum, Downturned c... |
OMIM:619720 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Bilateral cleft lip and palate, Anterior encephalocele, Holoprosencephaly |
OMIM:601357 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Ventricular septal defect, Transpos... |
OMIM:231060 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
| Pai Syndrome |
|
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele |
ORPHA:1993 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Craniofacial hyperostosis, Prominent occiput, Cleft palate, Non-midline cleft lip |
ORPHA:2725 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Narrow palate |
OMIM:617481 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect... |
OMIM:615524 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Long philtrum, Smooth philtrum |
OMIM:618821 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hydrocephalus, Cleft palate |
ORPHA:398189 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Cleft palate |
OMIM:601016 |
| Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Oral cleft, Cleft palate, Short mandibular rami |
OMIM:141400 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum |
OMIM:225060 |
| Autosomal Recessive Amelia |
|
Polyhydramnios, Abnormal cardiac septum morphology, Non-midline cleft lip, Oral cleft |
ORPHA:1027 |
| Bresek Syndrome |
|
Hydrocephalus, Plagiocephaly, Aganglionic megacolon, Cleft palate |
ORPHA:85284 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Median cleft lip, Microglossia, Occipital encephalocele |
OMIM:241800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Brachycephaly, Bifid uvula, Cleft palate |
OMIM:300958 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Plagiocephaly, Tooth agenesis, Narrow palate, Multiple unerupted teeth, Abnormal pa... |
ORPHA:2063 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Plagiocephaly, Cleft palate, Anterior plagiocephaly, Left unicoronal synostosis, Te... |
OMIM:614749 |
| Orofaciodigital Syndrome Viii |
|
High palate, Median cleft lip, Cleft palate |
OMIM:300484 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Dolichocephaly, Long philtrum, Frontal bossing, Brachycephaly, Midface retrusion |
OMIM:619721 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... |
OMIM:604757 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Holoprosencephaly 4 |
|
Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly |
OMIM:142946 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Holoprosencephaly, Dolichocephaly, Short philtrum, De... |
OMIM:612530 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Plagiocephaly, Protruding tongue, Thick vermilion borde... |
OMIM:618106 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular ventricular septal defect,... |
OMIM:115197 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Tented upper lip vermilion, Plagiocephaly, Open mouth |
OMIM:616362 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Plagiocephaly, Macroglossia, Downturned corners of mouth, Widely spaced ... |
ORPHA:369891 |
| Intellectual Disability, Wolff Type |
|
Non-midline cleft lip, Abnormal intestine morphology, Oral cleft, Thick lower lip vermilion |
ORPHA:3080 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Short philtrum, Downturned corners of mouth, Smooth philtrum |
OMIM:613192 |
| Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Unilateral cleft lip, Tetralogy of Fallot |
ORPHA:1919 |
| Osteogenesis Imperfecta, Type Xx |
|
High palate, Plagiocephaly, Narrow palate, Agenesis of permanent teeth, Tented upper lip vermilio... |
OMIM:618644 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Distal Monosomy 7Q36 |
|
Wide mouth, Cleft palate, Holoprosencephaly, Non-midline cleft lip, Abnormal calvaria morphology |
ORPHA:1636 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Triopia |
|
Cleft palate, Dolichocephaly, Frontal bossing, Median cleft lip, Encephalocele |
ORPHA:3374 |
| Faciothoracogenital Syndrome |
|
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia |
OMIM:227320 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Narrow mouth, Long philtrum, Plagiocephaly |
OMIM:613457 |
| Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis |
OMIM:201550 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Gingival overgrowth, Atrial septal defect, Aortic valve stenosis, Lower ey... |
ORPHA:363705 |
| Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline cleft lip |
ORPHA:1104 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Cleft palate |
OMIM:244600 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Narrow mouth, Plagiocephaly, Thin vermilion border, Short philtrum, Mi... |
OMIM:617360 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Ectopic anus, Wide mouth, Anal atresia, Abnormal palate morphology, Plagiocephaly, Cleft palate, ... |
ORPHA:85199 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Cleft palate, Anterior plagiocephaly, Long philtrum, Downturned corners of mouth, Fr... |
ORPHA:163649 |
| Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Encephalocele, Brachycephaly |
OMIM:603671 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Solitary median maxillary central incisor, High palate, Cleft palate |
OMIM:602418 |
| Malan Overgrowth Syndrome |
|
High palate, Narrow mouth, Plagiocephaly, Frontal bossing, Scaphocephaly |
ORPHA:420179 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Oral cleft, Congenital muscular dystrophy, Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Plagiocephaly, Short philtrum, Microdontia, Enamel hypoplasia, W... |
OMIM:619293 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Tetralogy of Fallot, Camptodactyly, Pectoral ... |
OMIM:136760 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Microphthalmia |
ORPHA:2432 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
High palate, Plagiocephaly, Short philtrum, Thin upper lip vermilion, Smooth philtrum |
OMIM:619188 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Cleft palate, Craniosynostosis, Parietal foramina, Cleft lip, Occipital encepha... |
ORPHA:60015 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
| Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Gingival overgrowth, Narrow mouth, Atrial septal defect, Joint contracture of the hand, Narrow pa... |
OMIM:235510 |
| Chromosome 15Q14 Deletion Syndrome |
|
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion |
OMIM:616898 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:3210 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis, Meningocele |
ORPHA:2003 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Atrial septal defect, Cleft palate, Microphthalmia |
ORPHA:261272 |
| Trisomy 20P |
|
Ectopic anus, Brachycephaly, Plagiocephaly, Everted lower lip vermilion, Thin vermilion border, A... |
ORPHA:261318 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:236410 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Cleft palate |
OMIM:214300 |
| Ritscher-Schinzel Syndrome 4 |
|
High palate, Wide mouth, Plagiocephaly, Narrow palate, Short philtrum, Thick vermilion border, Br... |
OMIM:619435 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Hydrocephalus, Plagiocephaly, Deep philtrum, Tented upper lip vermilion, Exaggerated... |
OMIM:619833 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Anal atresia, Plagiocephaly, Abnormality of the dentition, Natal tooth, Umbilical hernia, Brachyc... |
ORPHA:261652 |
| Acrofrontofacionasal Dysostosis |
|
High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft lip, Brachycephaly, Mid... |
ORPHA:1784 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Midface retrusion, Cleft palate |
OMIM:184840 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... |
OMIM:612561 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Short philtrum, Frontal bossing, Tented upper lip vermilion, Thin upper lip vermil... |
ORPHA:371364 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Plagiocephaly, Long philtrum, Flat occiput, Tented upper lip vermilion, Thick vermil... |
OMIM:619383 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip, Midface... |
OMIM:616788 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Brachycephaly, Cleft palate, Spina bifida occulta |
OMIM:268850 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate |
OMIM:609654 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... |
OMIM:611134 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Abnormal parietal bone morphology, Plagiocephaly, Short philtrum, Bifid uvula, Downt... |
ORPHA:247262 |
| Hydrolethalus |
|
Hydrocephalus, Cleft palate, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Unilatera... |
ORPHA:2189 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Short philtrum, Frontal bossing, Dental crowding, Brachycephaly |
OMIM:617296 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Holoprosencephaly |
ORPHA:2163 |
| Fg Syndrome Type 1 |
|
High palate, Wide mouth, Hydrocephalus, Malrotation of colon, Anal atresia, Dental crowding, Plag... |
ORPHA:93932 |
| Pentasomy X |
|
Plagiocephaly |
ORPHA:11 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Plagiocephaly |
ORPHA:1143 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Plagiocephaly, Dolichocephaly, Long philtrum, Pyloric stenosis, Frontal bossing, Thi... |
ORPHA:457279 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Hypodontia, Cleft palate, Macrodontia, Abnormal dental enamel morphology |
ORPHA:2916 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Cleft palate, Craniosynostosis, Intestinal malrotation, Downturned corners of mout... |
ORPHA:457193 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Cleft palate, Thin vermilion border, Short philtrum, Bifid uvula |
OMIM:608572 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules |
OMIM:277170 |
| Intellectual Developmental Disorder, Autosomal Dominant 13 |
|
Plagiocephaly |
OMIM:614563 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Patent foramen oval... |
OMIM:618652 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Raine Syndrome |
|
High palate, Wide mouth, Hydrocephalus, Gingival overgrowth, Narrow mouth, Plagiocephaly, Cleft p... |
OMIM:259775 |
| Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Wide mouth, Narrow mout... |
ORPHA:3376 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Brachycephaly, Craniosynostosis, Pyloric stenosis, Frontal bossing, Thin upper lip v... |
ORPHA:314575 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Cleft palate, Holoprosencephaly |
ORPHA:2165 |
| 2Q24 Microdeletion Syndrome |
|
Cleft palate, Camptodactyly of finger, Short philtrum, Abnormal oral frenulum morphology, Microph... |
ORPHA:1617 |
| Trisomy 8Q |
|
Myelomeningocele, High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral clef... |
ORPHA:1752 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Smooth philtrum, Microphthalmia |
OMIM:602501 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Edema, Pericardial... |
OMIM:617822 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Non-midline cleft lip, Spinal dysrap... |
ORPHA:1908 |
| Opitz-Kaveggia Syndrome |
|
Cleft upper lip, Wide mouth, Hydrocephalus, Anal atresia, Narrow palate, Plagiocephaly, Cleft pal... |
OMIM:305450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ascites, Cardiomegaly, Microphthalmia |
ORPHA:858 |
| Frontofacionasal Dysplasia |
|
Cleft palate, Non-midline cleft lip, Encephalocele, Brachycephaly, Midface retrusion |
ORPHA:1791 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Plagiocephaly, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atre... |
OMIM:619227 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Plagiocephaly, Umbilical hernia, Open mouth |
OMIM:617751 |
| Congenital Enterovirus Infection |
|
Hydrops fetalis, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleural effusion, Fetal ascites, Pe... |
ORPHA:292 |
| Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly, Smooth philtrum, Thick lower lip vermilion |
OMIM:618792 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Plagiocephaly, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Narrow mouth, Plagiocephaly, Cleft palate, Dolichocephaly, Long philtrum, Advanced eruption of te... |
ORPHA:2215 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... |
ORPHA:915 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Occipital encephalocele, Craniosynostosis |
OMIM:614416 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Noonan Syndrome 13 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Plagiocephaly, Long philtrum, Microdontia,... |
OMIM:619087 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Polyhydramnios... |
OMIM:312150 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Prominent occiput, Unilateral cleft palate, Unilateral cleft lip, Midface retrusion, Submucous cl... |
OMIM:619122 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Cleft palate, Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Biparietal na... |
ORPHA:1770 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
| Frontonasal Dysplasia 2 |
|
Calvarial skull defect, Encephalocele, Craniosynostosis, Parietal foramina, Anterior plagiocephal... |
OMIM:613451 |
| Dihydropyrimidinase Deficiency |
|
Anal atresia, Plagiocephaly |
OMIM:222748 |
| Isotretinoin Syndrome |
|
Cleft palate, Biparietal narrowing, Spina bifida occulta |
ORPHA:2305 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
High palate, Brachycephaly, Plagiocephaly, Cleft palate, Thin vermilion border, Long philtrum, Mi... |
OMIM:610759 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Trigonocephaly, Long philtrum, Oral cleft, Thin upper lip vermilion,... |
OMIM:243310 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Cleft upper lip, Hydrocephalus, Anal atresia, Narrow mouth, Frontal bossing, Tented ... |
OMIM:612582 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Umbilical hernia, Open mouth |
ORPHA:500159 |
| Pierpont Syndrome |
|
Long upper lip, Everted lower lip vermilion, Thin vermilion border, Widely spaced teeth, Micropht... |
ORPHA:487825 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion |
ORPHA:36412 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med... |
OMIM:147250 |
| Culler-Jones Syndrome |
|
Cleft upper lip, Midface retrusion, Cleft palate |
OMIM:615849 |
| Fetal Alcohol Syndrome |
|
Cleft palate, Microdontia, Non-midline cleft lip, Thin upper lip vermilion, Biparietal narrowing,... |
ORPHA:1915 |
| Holoprosencephaly 11 |
|
Cleft lip, Cleft palate, Holoprosencephaly |
OMIM:614226 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... |
ORPHA:1335 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Predominantly lower limb lymphedema, Cleft palate, Tetralogy of Fallot, Ventricu... |
OMIM:153400 |
| Juberg-Hayward Syndrome |
|
Cleft upper lip, Anteriorly placed anus |
OMIM:216100 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly |
OMIM:308350 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Camptodactyly, Ventricular septal defec... |
OMIM:616145 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate |
OMIM:244200 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Midface retrusion, Cleft palate |
ORPHA:1135 |
| Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Oligodontia, Spina bifida occulta, Unilateral cleft lip... |
ORPHA:1787 |
| Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Cleft palate, Tented upper lip vermilion, Meningocele, Spina bifida, Aganglionic... |
ORPHA:894 |
| Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... |
OMIM:200990 |
| Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Hydrops fe... |
ORPHA:3378 |
| Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Long philtrum, Cleft palate, Non-midline cleft lip |
ORPHA:1252 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
| Lymphoproliferative Syndrome 1 |
|
Stomatitis, Pericardial effusion, Pleural effusion |
OMIM:613011 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Pleural effusion, Edema, Oral ulcer, Ascites, Pericardial effusion |
ORPHA:93552 |
| Dystonia, Juvenile-Onset |
|
Cleft upper lip, Cleft palate |
OMIM:607371 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Plagiocephaly, Cleft palate, Short philtrum, Widely spaced teeth, Frontal bossing, Th... |
OMIM:280000 |
| Opitz Gbbb Syndrome |
|
High palate, Cleft upper lip, Anal atresia, Cleft palate, Frontal bossing, Unilateral cleft lip, ... |
OMIM:300000 |
| Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... |
OMIM:174300 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, Cleft palate, Small thenar eminence, Abnormal heart morphology |
OMIM:239800 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
| Trichohepatoneurodevelopmental Syndrome |
|
High palate, Plagiocephaly, Macroglossia, Steatorrhea, Microdontia, Downturned corners of mouth, ... |
OMIM:618268 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Short philtrum, Downturned corners of mouth, Microphthalmia |
ORPHA:93267 |
| Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Situs inversus totalis, Polyhydramnios, Su... |
ORPHA:199302 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Cleft palate, Deep philtrum, Frontal bossing |
OMIM:206920 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Median cleft lip |
OMIM:258865 |
| Anauxetic Dysplasia 3 |
|
Oligodontia, Midface retrusion, Plagiocephaly |
OMIM:618853 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... |
OMIM:129400 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... |
OMIM:618622 |
| Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Edema, Generalized edema, Ascites, Pericardial effusion |
ORPHA:90362 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Tooth malposition, Cleft palate, Flexion contracture of the 2... |
ORPHA:2712 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Bilateral cleft lip, Ankyloglossia |
OMIM:618021 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Wide mouth, Plagiocephaly, Abnormality of the dentition, Thick vermilion border |
ORPHA:363528 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial effusion |
OMIM:618775 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Occipital encephalocele |
OMIM:612284 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Cleft palate, Atrioventricular canal defect, Sh... |
ORPHA:2549 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Cleft upper lip, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Ventr... |
OMIM:264480 |
| Trisomy 9P |
|
Impacted tooth, Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Brachycephaly |
ORPHA:236 |
| Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Cleft palate, Non-midline cleft lip |
ORPHA:1580 |
| Gaucher Disease Type 1 |
|
Gingival bleeding, Pedal edema, Abnormal myocardium morphology, Ascites, Pericardial effusion |
ORPHA:77259 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Tooth agenesis, Cleft palate |
OMIM:147950 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Microphthalmia, Facial hypotonia, Smooth philtrum |
OMIM:614526 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Hypoplastic philtrum, Hypodontia, Cleft palate |
OMIM:227280 |
| Acute Interstitial Pneumonia |
|
Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
| Branchio-Oculo-Facial Syndrome |
|
High palate, Tooth agenesis, Everted lower lip vermilion, Dolichocephaly, Microdontia, Oral cleft... |
ORPHA:1297 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Flat occiput, Unilateral cleft lip |
ORPHA:2511 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Tooth agenesis, Dilated cardiomyopathy, Edema |
OMIM:605676 |
| Pierpont Syndrome |
|
Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin vermilion borde... |
OMIM:602342 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Cleft palate |
OMIM:601076 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Everted lower lip vermilion, Limb hypertonia, Camptodactyly of finger, Ventr... |
OMIM:616920 |
| Monosomy 18P |
|
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Short philtrum, Carious teeth, Do... |
ORPHA:1598 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
| Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Cleft palate, Short philtrum, Midface retrusion, Frontal bossing, T... |
ORPHA:819 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion |
ORPHA:92 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Ventricular s... |
OMIM:600987 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Cofs Syndrome |
|
Camptodactyly of finger, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Microph... |
ORPHA:1466 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Oligohydramnios, Hypertrophic cardiomyopathy, Microphthalmia |
OMIM:619053 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Acromelic Frontonasal Dysplasia |
|
Wide mouth, Median cleft palate, Median cleft lip, Meningocele, Encephalocele, Brachycephaly |
ORPHA:1827 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Plagiocephaly, Cleft palate, Macroglossia, Craniosynostosis, Oligodontia, Bifid uvul... |
ORPHA:453499 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia of the frontal bon... |
OMIM:229400 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Fibrochondrogenesis |
|
Narrow mouth, Plagiocephaly, Cleft palate |
ORPHA:2021 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion |
OMIM:618183 |
| Pulmonary Capillary Hemangiomatosis |
|
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion |
ORPHA:199241 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Decreased muscle mass |
OMIM:608763 |
| Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Edema, Lower limb hypertonia, Pericarditis, Ascites, Pericardial ef... |
OMIM:619487 |
| Hennekam Syndrome |
|
Gingival overgrowth, Tooth agenesis, Narrow mouth, Chylothorax, Supernumerary tooth, Camptodactyl... |
ORPHA:2136 |
| Otodental Syndrome |
|
Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... |
ORPHA:2791 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele |
ORPHA:1528 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Exercise-induced rhabdomyolysis, Ventricular septal defect, Dilated cardiom... |
ORPHA:26793 |
| Spondylo-Ocular Syndrome |
|
Thin vermilion border, Long philtrum, Aplasia/Hypoplasia of the lens, Ventricular septal defect, ... |
ORPHA:85194 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly |
OMIM:180750 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164180 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Diastema, Microdontia, Bicoronal ... |
OMIM:619718 |
| Saethre-Chotzen Syndrome |
|
Plagiocephaly, Narrow palate, Cleft palate, Craniosynostosis, Open bite, Brachycephaly |
ORPHA:794 |
| Naxos Disease |
|
Cleft upper lip, Cardiomyopathy |
ORPHA:34217 |
| Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Wide mouth, Cleft palate, Broad philtrum, Brachycephaly, Midface retrusion |
ORPHA:1394 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia |
OMIM:218670 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Carious teeth, Bilateral cl... |
ORPHA:3253 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Edema, Pericarditis, Thin upper l... |
OMIM:212065 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly |
ORPHA:96190 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Long philtrum, Bifid uvula, Ventricular septal defect, Deep philtrum, Downturned co... |
ORPHA:404440 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, High palate, Hydrocephalus, Cleft upper lip, Alveolar ridge overgrowth, Supernu... |
OMIM:311200 |
| 16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Wide mouth, Cleft palate, Holoprosencephaly, Exaggerated cupid's bow, Thin upper... |
ORPHA:261236 |
| Oculomaxillofacial Dysostosis |
|
Abnormality of the dentition, Median cleft lip, Cleft palate |
ORPHA:1794 |
| Alg9-Cdg |
|
Torticollis, Wide mouth, Hypoplasia of the musculature, Atrial septal defect, Hydrops fetalis, Lo... |
ORPHA:79328 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, High, narrow palate, Dolichocephaly, Long philtrum, Umbilical hernia |
ORPHA:1101 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Narrow mouth, Plagiocephaly, Dolichocephaly, Bifid uvula, Frontal bossing, Exaggerated cupid's bo... |
OMIM:619480 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
High palate, Hydrocephalus, Narrow mouth, Plagiocephaly, Aqueductal stenosis, Short philtrum, Lon... |
OMIM:619512 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate |
OMIM:601355 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Joint contracture of the hand, Flexion contracture, Thin vermilion border, Dehydr... |
OMIM:214150 |
| Acropectorovertebral Dysplasia |
|
Spina bifida, High, narrow palate, Cleft palate |
ORPHA:957 |
| Atelosteogenesis Type Ii |
|
Plagiocephaly, Cleft palate, Bilateral cleft palate, Long philtrum, Thin upper lip vermilion, Mid... |
ORPHA:56304 |
| Myhre Syndrome |
|
Narrow mouth, Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft ... |
OMIM:139210 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Brachycephaly, Cleft pala... |
ORPHA:861 |
| Aymé-Gripp Syndrome |
|
Brachycephaly, Hydrocephalus, Narrow mouth, Plagiocephaly, Cleft palate, Craniosynostosis, Oligod... |
ORPHA:1272 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Plagiocephaly, Long philtrum, Smooth philtrum |
OMIM:300749 |
| Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Fr... |
OMIM:619895 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Cleft palate, Oligodontia, Oral cleft, Brachycephaly, Abnormal dental enamel mor... |
OMIM:601701 |
| Poems Syndrome |
|
Pleural effusion, Ascites, Pericardial effusion, Edema |
ORPHA:2905 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
High palate, Dental crowding, Plagiocephaly, Dolichocephaly, Frontal bossing, Thick vermilion border |
OMIM:619005 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Cleft upper lip, Abnormality of the dentition |
OMIM:273400 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Cleft palate, Non-midline cleft lip |
ORPHA:3429 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Aortic valve stenosis, Atrial septal def... |
ORPHA:96170 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip |
OMIM:617926 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Short philtrum, Ventr... |
ORPHA:435638 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Long uvula... |
ORPHA:536532 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Flat occiput, Normal pressure hydrocephalus, Plagiocephaly |
ORPHA:300570 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Cleft palate, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Un... |
OMIM:616897 |
| Kapur-Toriello Syndrome |
|
Cleft upper lip, Atrial septal defect, Joint contracture of the hand, Cleft palate, Camptodactyly... |
OMIM:244300 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Plagiocephaly, Cleft palate, Everted lower lip vermilion, Craniosynostosis, Dolichoc... |
OMIM:613610 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Stevenson-Carey Syndrome |
|
Narrow mouth, Atrial septal defect, Joint contracture of the hand, Camptodactyly, Downturned corn... |
OMIM:611961 |
| Carey-Fineman-Ziter Syndrome 1 |
|
High palate, Plagiocephaly, Cleft palate, Glossoptosis, Pierre-Robin sequence, Microglossia |
OMIM:254940 |
| Mohr Syndrome |
|
High palate, Hydrocephalus, Agenesis of central incisor, Accessory oral frenulum, Cleft palate, B... |
OMIM:252100 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Widely spaced teeth, Tongue fasciculations, Plagiocephaly, Frontal bossing |
OMIM:617193 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Narrow mouth, Plagiocephaly, Thin vermilion border, Esophagitis, Tented philtrum, Brachycephaly |
ORPHA:495818 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum, Oligo... |
ORPHA:228390 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
High palate, Wide mouth, Plagiocephaly, Craniosynostosis, Short lingual frenulum |
ORPHA:1521 |
| Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Hydrocephalus, Cleft palate, Non-midline cleft lip |
ORPHA:2075 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
| Baraitser-Winter Syndrome 2 |
|
Wide mouth, Long philtrum, Oral cleft, Microphthalmia, Thin upper lip vermilion |
OMIM:614583 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly, Long philtrum, Downturned corners of mouth, Thin upper lip vermilion, Smooth philtrum |
OMIM:618548 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Everted lower lip vermilion |
OMIM:615471 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Hydrocephalus, Microphthalmia |
OMIM:613153 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... |
ORPHA:77261 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Long philtrum, Deep philtrum, Lymphedema, Microphthalmia, Thin upper lip vermilion, Thick lower l... |
OMIM:152950 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cleft palate, Bifid uvula, Spina bifida occulta, Lower lip pit, Fibrous syngnathia |
OMIM:119500 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Holoprosencephaly, Natal tooth, Midface retrusion |
OMIM:612651 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Long philtrum, Flat occiput, Exencephaly, Brachycephaly |
ORPHA:2211 |
| Microphthalmia, Syndromic 13 |
|
Diastema, Microphthalmia |
OMIM:300915 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Microphthalmia, Short philtrum, Tented upper lip vermilion, Open mouth, Encephalocele |
OMIM:614424 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Doors Syndrome |
|
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... |
ORPHA:79500 |
| Sandestig-Stefanova Syndrome |
|
High palate, Muscular ventricular septal defect, Camptodactyly, Oral cleft, Microphthalmia, Perim... |
OMIM:618804 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Dental malocclusion, Hydrocephalus, Cleft palate, Holoprosencephaly, Short philt... |
OMIM:610829 |
| Postaxial Acrofacial Dysostosis |
|
Cleft palate, Non-midline cleft lip |
ORPHA:246 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Congenital diaphragmatic hernia, Cle... |
ORPHA:2059 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Abnormality of the philtrum, Brachycephaly, Plagiocephaly |
ORPHA:2673 |
| Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly, Microdontia |
OMIM:261990 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Gingival overgrowth, Pulmonic stenosis, Left ventricular hypertrophy, Small thenar e... |
OMIM:619148 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Microphthalmia, Microdontia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodontia, Long philtru... |
OMIM:608670 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Wide mouth, Cleft palate, Microphthalmia |
OMIM:619981 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Cleft palate |
ORPHA:96181 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Camptodactyly of finger, Microphthalmia |
ORPHA:2547 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Hypodontia, Cleft palate, Widely spaced teeth, Conical tooth, Selective tooth ag... |
OMIM:106260 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... |
OMIM:607598 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Microphthalmia |
ORPHA:290 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Tented upper lip vermilion, Microphthalmia |
OMIM:614105 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Short philtrum, Bifid uvula, Downtur... |
OMIM:601808 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Microphthalmia |
ORPHA:1473 |
| Joubert Syndrome 1 |
|
Plagiocephaly, Macroglossia, Triangular-shaped open mouth, Protruding tongue, Occipital myelomeni... |
OMIM:213300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... |
ORPHA:370959 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Duodenal atresia, Posterior plagiocephaly, Intestinal malrotation, Brachycephaly |
OMIM:617798 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hydrocephalus, Macroglossia, Skeletal muscle hypertrophy, Buphthalmos, Cleft pal... |
OMIM:613150 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Aicardi Syndrome |
|
Cleft upper lip, Malabsorption, Plagiocephaly, Hiatus hernia, Cleft palate, Short philtrum, Intes... |
ORPHA:50 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Alveolar ridge overgrowth, Gingival overgrowth, Plagiocephaly, Delayed eruption of teeth, Microdo... |
OMIM:301072 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Camptodactyly, Widely spaced teeth, Knee flexion contracture, Microphthalmia |
OMIM:619694 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Median cleft palate, Hypoplastic left heart, Cleft palate, Alobar ... |
OMIM:301043 |
| Q Fever |
|
Endocarditis, Myocarditis, Pleural effusion, Abnormal heart valve morphology, Pericarditis, Peric... |
ORPHA:781 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft palate, Long philtrum, Downturned corners of mouth, Deep philtrum, Cleft lip, Microphthalmi... |
OMIM:618571 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft upper lip, Hydrocephalus, Anal atresia, Dental malocclusion, Cleft palate, Int... |
OMIM:300373 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
| Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Wide mouth, Cleft palate, Oligodontia, Brachycephaly |
OMIM:201180 |
| Warburg Micro Syndrome 1 |
|
Thin vermilion border, Narrow mouth, Microphthalmia |
OMIM:600118 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Hydrocephalus, Plagiocephaly, Dentinogenesis imperfecta, Craniosynostosis, Long phil... |
ORPHA:536467 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Anophthalmia, Ventricular septal defect, Microphthalmia |
ORPHA:77298 |
| Turnpenny-Fry Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Brachycephaly, Plagiocephaly, Abnormality of the ... |
OMIM:618371 |
| 3Mc Syndrome 1 |
|
Cleft upper lip, Cleft palate, Coronal craniosynostosis, Spina bifida occulta, Skull asymmetry, D... |
OMIM:257920 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
| Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Pericardial effusion, Pleural effusion |
OMIM:108050 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... |
OMIM:618914 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| 16P13.2 Microdeletion Syndrome |
|
Hydrocephalus, Brachycephaly, Plagiocephaly |
ORPHA:500055 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palat... |
OMIM:614294 |
| 3Q29 Microduplication Syndrome |
|
High palate, Cleft palate, Camptodactyly of toe, Abnormality of the dentition, Ventricular septal... |
ORPHA:251038 |
| Holoprosencephaly 3 |
|
Cleft palate, Holoprosencephaly, Bifid uvula, Cleft lip, Solitary median maxillary central inciso... |
|
