| Van Der Woude Syndrome 2 |
|
Cleft palate, Cleft upper lip, Anodontia |
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 |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Non-midline cleft lip, Tooth agenesis |
ORPHA:1074 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip |
ORPHA:401942 |
| Telecanthus |
|
Bilateral cleft lip and palate, Anodontia |
OMIM:187350 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Brachycephaly, Frontal bossing, Plagiocephaly |
OMIM:300064 |
| Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
| Parietal Foramina 1 |
|
Parietal foramina, Symmetrical, oval parietal bone defects, Cleft upper lip, Cleft palate |
OMIM:168500 |
| Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, High palate, Pericardial effusion |
OMIM:613611 |
| Mmep Syndrome |
|
Oral cleft, Microphthalmia, Median cleft lip, Ventricular septal defect |
ORPHA:3434 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip |
ORPHA:1991 |
| Gastric Cancer, Hereditary Diffuse |
|
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:601420 |
| Thomas Syndrome |
|
Dolichocephaly, Cleft upper lip, Cleft palate |
ORPHA:3316 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion, Midface retrusion, Plagiocephaly |
OMIM:617768 |
| Mental Retardation, Autosomal Dominant 58 |
|
Dental crowding, Wide mouth, Thick vermilion border, Plagiocephaly, High palate |
OMIM:618106 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Short philtrum, Dolichocephaly, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, High pala... |
OMIM:615433 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... |
OMIM:618773 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... |
ORPHA:888 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Short philtrum, Downturned corners of mouth, Plagiocephaly, Ectopic anus, Cleft palate |
ORPHA:94066 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate |
OMIM:223200 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Ectopic anus, Cleft palate |
ORPHA:2476 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Oral cleft, Cleft upper lip, Abnormal heart morphology |
OMIM:233430 |
| Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Flat occiput, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
| Isolated Plagiocephaly |
|
Midface retrusion, Frontal bossing, Plagiocephaly |
ORPHA:35098 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Cleft palate |
OMIM:615656 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Arthrogryposis multiplex congenita, Edema, Microphthalmia, Cleft palate |
OMIM:616570 |
| Palant Cleft Palate Syndrome |
|
Exaggerated cupid's bow, Cleft palate |
OMIM:260150 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Brachycephaly, Broad phi... |
OMIM:618577 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Frontal bossing, Cleft palate |
OMIM:311895 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Trigonocephaly, Plagiocephaly, Cleft palate |
OMIM:618265 |
| Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Plagiocephaly, Oral cleft |
ORPHA:77300 |
| Orofaciodigital Syndrome V |
|
Frontal bossing, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft... |
OMIM:174300 |
| Lymphatic Malformation 7 |
|
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... |
OMIM:617300 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing, Dental crowding |
OMIM:619264 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Abnormality of the tongue, Intestinal malrotation, Flat occiput, Bilateral cleft lip and palate, ... |
OMIM:601165 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Prominent ... |
ORPHA:46 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
| X-Linked Intellectual Disability, Siderius Type |
|
Oral cleft, Cleft upper lip |
ORPHA:85287 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
| Cebalid Syndrome |
|
Midface retrusion, Platystencephaly, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, T... |
OMIM:618774 |
| Isolated Dandy-Walker Malformation |
|
Platybasia, Prominent occiput, Frontal bossing, Cleft palate |
ORPHA:217 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
| Rosselli-Gulienetti Syndrome |
|
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia |
OMIM:225000 |
| Developmental And Epileptic Encephalopathy 65 |
|
Tented upper lip vermilion, Plagiocephaly |
OMIM:618008 |
| Craniosynostosis 6 |
|
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina bifida occu... |
OMIM:616602 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, Plagiocephaly, Brachycephaly, Cleft palate, High palate |
OMIM:618603 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Long philtrum, Pericardial effusion, Wide mouth, Thin upper lip vermilion, Upturned corners of mouth |
OMIM:614684 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Umbilical hernia, Plagiocephaly |
OMIM:618354 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
| Muenke Syndrome |
|
Plagiocephaly, Brachycephaly, Coronal craniosynostosis, High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| Cantu Syndrome |
|
Long philtrum, Lymphedema, Pericardial effusion, Thick upper lip vermilion, Umbilical hernia, Con... |
OMIM:239850 |
| Mental Retardation, Autosomal Dominant 36 |
|
Hydrocephalus, Open mouth, Tented upper lip vermilion, Plagiocephaly, Prominent metopic ridge |
OMIM:616362 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Short philtrum, Downturned corners of mouth, Midface retrusion, Plagiocephaly, Tooth agenesis, Ma... |
OMIM:618731 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Faciocardiorenal Syndrome |
|
Narrow mouth, Smooth philtrum, Plagiocephaly, Hypodontia, Cleft palate |
ORPHA:1973 |
| Acrofacial Dysostosis, Palagonia Type |
|
Unilateral cleft lip, Oligodontia, Cleft upper lip, Spina bifida occulta at S1 |
OMIM:601829 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Atrial septal defect, Narrow mouth, Ventricular septal defect, Microphthalmia |
ORPHA:3469 |
| 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 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Short philtrum, Frontal bossing, Deep philtrum, Plagiocephaly, Cleft palate, High,... |
OMIM:617808 |
| Mental Retardation, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Brachycephaly, Thick upper lip vermilion |
OMIM:309545 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
| Hydrops Fetalis |
|
Polyhydramnios, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial effusion, As... |
ORPHA:1041 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Short philtrum, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Brachycephaly, Dol... |
OMIM:618672 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Open mouth, Frontal bossing, Everted lower lip vermilion, Wide mouth, Plagiocephaly... |
OMIM:616789 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Transpos... |
OMIM:231060 |
| Muenke Syndrome |
|
Midface retrusion, Plagiocephaly, Brachycephaly, Coronal craniosynostosis, High palate, Dental ma... |
OMIM:602849 |
| 6Q25 Microdeletion Syndrome |
|
High palate, Long philtrum, Plagiocephaly, Cleft palate |
ORPHA:251056 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus |
ORPHA:2736 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia |
OMIM:611638 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Diastema, Plagiocephaly, Cleft palate, Microdontia |
OMIM:605282 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Pericardial effusion, Wide mouth, Edema, Ascites, Abnormal cardiac septum morphology |
OMIM:608776 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Thin upper lip vermilion, Brachycephaly, High palate, Prominent metopic ridge |
OMIM:618862 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental enamel morphology, Wide anterior fontanel, Abnormality of dental morphology, Fron... |
ORPHA:85199 |
| Acalvaria |
|
Spina bifida, Calvarial skull defect, Holoprosencephaly, Cleft palate, Hydrocephalus |
ORPHA:945 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Holoprosencephaly, Cleft upper lip, Cleft palate |
OMIM:612530 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Long philtrum, Narrow mouth, Downturned corners of mouth, Everted lower lip vermilion, Plagiocephaly |
OMIM:618089 |
| Microphthalmia, Syndromic 8 |
|
Oral cleft, Widely-spaced maxillary central incisors, Cleft upper lip, Cleft palate |
OMIM:601349 |
| Lessel-Kreienkamp Syndrome |
|
Open mouth, Frontal bossing, Plagiocephaly, Thin upper lip vermilion, Wide cranial sutures, Denta... |
OMIM:619149 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... |
ORPHA:2919 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... |
OMIM:226440 |
| Familial Lambdoid Synostosis |
|
Flat occiput, Hydrocephalus, Downturned corners of mouth, Plagiocephaly |
ORPHA:3267 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Cardiomegaly, Ventricular septal hypertrophy, Pulm... |
OMIM:115197 |
| Mental Retardation, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly |
OMIM:615516 |
| Autosomal Recessive Amelia |
|
Oral cleft, Abnormal cardiac septum morphology, Polyhydramnios, Non-midline cleft lip |
ORPHA:1027 |
| Hartsfield Syndrome |
|
Craniosynostosis, Non-midline cleft lip, Lobar holoprosencephaly, Cleft palate |
ORPHA:2117 |
| Charlie M Syndrome |
|
Short philtrum, Thin vermilion border, Narrow mouth, Non-midline cleft lip, Tooth agenesis |
ORPHA:1406 |
| Craniofrontonasal Dysplasia |
|
Craniosynostosis, Frontal bossing, Abnormality of the dentition, Plagiocephaly, Oral cleft, Brach... |
ORPHA:1520 |
| Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Short philtrum, Downturned corners of mouth, Midface retrusion, Abnormal rectum morphology, Agang... |
OMIM:239300 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
| Blepharocheilodontic Syndrome 1 |
|
Hypodontia, Neural tube defect, Anal atresia, Cleft upper lip, Conical tooth |
OMIM:119580 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Downturned corners of mouth, Open mouth, Midface retrusion, Frontal bossing, Tented upper lip ver... |
OMIM:618430 |
| Zechi-Ceide Syndrome |
|
Midface retrusion, Oligodontia, Cleft upper lip, Cleft palate |
OMIM:612916 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Short philtrum, Open mouth, Frontal bossing, Smooth philtrum, Plagiocephaly, Thin upper lip vermi... |
OMIM:616801 |
| Phenobarbital Embryopathy |
|
Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Mental Retardation, Autosomal Recessive 13 |
|
Short philtrum, Cleft upper lip, Smooth philtrum, Downturned corners of mouth |
OMIM:613192 |
| Mental Retardation, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, Thin upper lip vermilion, Brachycephaly, High palate |
OMIM:616078 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dolichocephaly, Brachycephaly, Hydrocephalus, Plagiocephaly |
ORPHA:272 |
| Osteogenesis Imperfecta, Type Xx |
|
Wormian bones, Narrow palate, Agenesis of permanent teeth, Midface retrusion, Tented upper lip ve... |
OMIM:618644 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Anterior plagiocephaly, Front... |
ORPHA:163649 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate, Microphthalmia, Anophthalmia |
OMIM:221950 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate, Microphthalmia, Anophthalmia |
OMIM:600776 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Narrow palate, Plagiocephaly |
OMIM:617481 |
| Craniosynostosis 4 |
|
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... |
OMIM:600775 |
| Schisis Association |
|
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Tracheoesophageal fi... |
ORPHA:63862 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormal palate morphology, Tooth agenesis, Plagiocephaly, Anal atresia, Crowded m... |
ORPHA:2063 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Plagiocephaly, Cleft palate |
ORPHA:85284 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Craniofacial hyperostosis, Prominent occiput, Non-midline cleft lip, Cleft palate |
ORPHA:2725 |
| Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
| Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Anal stenosis, Anterior plagiocephaly, Aganglionic megacolon, Tented upper lip vermilion, Plagioc... |
OMIM:614749 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Cleft palate |
OMIM:601016 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Ascites, Chylopericardium |
ORPHA:2414 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Microphthalmia, Congenital diap... |
OMIM:615524 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, High palate, Median cleft lip |
OMIM:155145 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Midface retrusion, Brachycephaly, Hydrocephalus, Turricephaly |
ORPHA:1532 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia |
OMIM:225060 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... |
OMIM:608572 |
| Hemifacial Microsomia With Radial Defects |
|
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami |
OMIM:141400 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Long philtrum, Smooth philtrum, Plagiocephaly |
OMIM:618821 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft upper lip, Cleft palate |
ORPHA:398189 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Cleft upper lip, Cleft palate, Brachyturricephaly, High, narrow palate |
OMIM:607597 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... |
OMIM:604757 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Bilateral cleft lip and palate, Cleft upper lip, Ventricular septal defect |
OMIM:601357 |
| Faciothoracogenital Syndrome |
|
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia |
OMIM:227320 |
| Summitt Syndrome |
|
Craniosynostosis, Prominent metopic ridge, Plagiocephaly |
ORPHA:3210 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Short philtrum, Smooth philtrum, Plagiocephaly, Thin upper lip vermilion, High palate, Prominent ... |
OMIM:619188 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Bifid uvula, Brachycephaly, Cleft upper lip, Cleft palate |
OMIM:300958 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Dextrocardia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft... |
OMIM:614294 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip |
OMIM:142946 |
| Malan Overgrowth Syndrome |
|
Narrow mouth, Frontal bossing, Plagiocephaly, High palate, Scaphocephaly |
ORPHA:420179 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Short philtrum, Drooling, Frontal bossing, Wide mouth, Plagiocephaly, Thin upp... |
OMIM:619293 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia |
OMIM:613885 |
| Distal Monosomy 7Q36 |
|
Holoprosencephaly, Abnormality of calvarial morphology, Wide mouth, Non-midline cleft lip, Cleft ... |
ORPHA:1636 |
| Raine Syndrome |
|
Enamel hypoplasia, Narrow mouth, Large fontanelles, Midface retrusion, Natal tooth, Wide mouth, P... |
OMIM:259775 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft ... |
OMIM:612561 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Downturned corners of mouth, Open mouth, Midface retrusion, Wide mouth, Umbilical h... |
ORPHA:369891 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, Cleft palate, High palate, High, narrow palate, Velopharyngeal insufficiency |
OMIM:201550 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
| Intellectual Disability, Wolff Type |
|
Oral cleft, Abnormal intestine morphology, Thick lower lip vermilion, Non-midline cleft lip |
ORPHA:3080 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate |
ORPHA:1104 |
| Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
| Orofaciodigital Syndrome Viii |
|
High palate, Median cleft lip, Cleft palate |
OMIM:300484 |
| Carey-Fineman-Ziter Syndrome |
|
Pierre-Robin sequence, Plagiocephaly, Microglossia, Glossoptosis, Cleft palate |
OMIM:254940 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip, Ventricular septal defect |
OMIM:214300 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Long philtrum, Narrow mouth, Plagiocephaly |
OMIM:613457 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Cleft palate |
OMIM:244600 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Cleft palate |
OMIM:611561 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Midface retrusion, Cleft palate |
OMIM:184840 |
| Trisomy 20P |
|
Spina bifida, Thin vermilion border, Short philtrum, Downturned corners of mouth, Frontal bossing... |
ORPHA:261318 |
| Triploidy |
|
Polyhydramnios, Macroglossia, Narrow mouth, Holoprosencephaly, Wide mouth, Non-midline cleft lip,... |
ORPHA:3376 |
| Pallister-Hall-Like Syndrome |
|
Abnormal heart morphology, Microglossia, Cleft palate, Hydrocephalus, Median cleft lip |
OMIM:241800 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, High palate, Cleft upper lip, Cleft palate |
OMIM:602418 |
| Bifid Uvula |
|
Bifid uvula, Submucous cleft soft palate, Cleft lip |
ORPHA:99771 |
| Dystonia, Juvenile-Onset |
|
Cleft upper lip, Cleft palate |
OMIM:607371 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Oligodontia, Atrial septal defect, Narrow palate, Narrow mouth, Ventri... |
OMIM:235510 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Long philtrum, Wide anterior fontanel, Frontal bossing, Midface retrusion, Plagiocephaly, Thin up... |
ORPHA:457279 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis |
ORPHA:2003 |
| Fg Syndrome Type 1 |
|
Long philtrum, Craniosynostosis, Drooling, Open mouth, Dental crowding, Wide mouth, Umbilical her... |
ORPHA:93932 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Brachycephaly, Frontal bossing, Plagiocephaly |
OMIM:236410 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Microphthalmia |
ORPHA:2432 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Midface retrusion, Natal tooth, Abnormality of the dentition, Umbilical hernia, Plagiocephaly, An... |
ORPHA:261652 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Flexion contracture, Hypoplastic heart, Edema, Cleft upper lip, Cleft palate, Amy... |
OMIM:312150 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect, Tented upper lip vermilion, Cleft upper lip, Cle... |
OMIM:600987 |
| Opitz Gbbb Syndrome, Type I |
|
Frontal bossing, Smooth philtrum, Thin upper lip vermilion, Anal atresia, Cleft upper lip, Cleft ... |
OMIM:300000 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Opitz-Kaveggia Syndrome |
|
Long philtrum, Delayed closure of the anterior fontanelle, Narrow palate, Wide anterior fontanel,... |
OMIM:305450 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Camptodactyly, Median cleft palate, Microphthalmia, Joint con... |
OMIM:136760 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Atrial septal defect, Microphthalmia, Cleft palate |
ORPHA:261272 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Cleft palate |
ORPHA:1779 |
| Mental Retardation, Autosomal Dominant 13 |
|
Plagiocephaly |
OMIM:614563 |
| Acrofrontofacionasal Dysostosis |
|
Midface retrusion, Everted lower lip vermilion, Non-midline cleft lip, Brachycephaly, Cleft palat... |
ORPHA:1784 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:2163 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Hydrolethalus |
|
Polyhydramnios, Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral cleft lip, Cleft palate,... |
ORPHA:2189 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Frontal bossing, Thin upper lip vermilion, Brachycephaly, High palate, Pyloric ... |
ORPHA:314575 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft palate, High palate, Cleft upper lip, Ventricular septal defect |
OMIM:609654 |
| Noonan Syndrome 13 |
|
Long philtrum, Prominent metopic ridge, Wide mouth, Plagiocephaly, U-Shaped upper lip vermilion, ... |
OMIM:619087 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short philtrum, Frontal bossing, Smooth philtrum, Tented upper lip vermilion, Plagiocephaly, Thin... |
ORPHA:371364 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly, Umbilical hernia, Dextrocardia, Cleft palate, Glossopto... |
OMIM:616145 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Long philtrum, Narrow mouth, Downturned corners of mouth, Prominent metopic ridge, Midface retrus... |
ORPHA:2215 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Brachycephaly, Spina bifida occulta, Cleft palate |
OMIM:268850 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Lymphedema, Predominantly lower limb lymphedema, Cleft upper lip, Clef... |
OMIM:153400 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos |
OMIM:613703 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Oral cleft, Congenital muscular dystrophy, Microphthalmia, Hydrocephalus |
ORPHA:324416 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Short philtrum, Downturned corners of mouth, Aganglionic megacolon, Tented upper lip vermilion, P... |
ORPHA:247262 |
| Triopia |
|
Frontal bossing, Abnormality of the fontanelles or cranial sutures, Cleft palate, Dolichocephaly,... |
ORPHA:3374 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Midface retrusion, Palate fistula, Bilateral cleft palate, Bilateral... |
OMIM:616788 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal dental enamel morphology, Plagiocephaly, Hypodontia, Cleft palate, Macrodontia |
ORPHA:2916 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Congenita... |
ORPHA:1915 |
| Trisomy 13 |
|
Long philtrum, Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Aplasia/Hypoplas... |
ORPHA:3378 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Long philtrum, Flat occiput, Thick vermilion border, Tented upper lip vermilion, Plagiocephaly, D... |
OMIM:619383 |
| Pentasomy X |
|
Plagiocephaly |
ORPHA:11 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Plagiocephaly |
ORPHA:1143 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Intestinal malrotation, Plagiocephaly, Thin upper ... |
ORPHA:457193 |
| Baraitser-Winter Syndrome 1 |
|
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Aortic valve stenosis, Microphth... |
OMIM:243310 |
| Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome |
|
Frontal bossing, Deep philtrum, Tented upper lip vermilion |
ORPHA:2104 |
| Potocki-Shaffer Syndrome |
|
Wormian bones, Short philtrum, Downturned corners of mouth, Parietal foramina, Brachycephaly, Tur... |
OMIM:601224 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Plagiocephaly, Duodenal atresia, Spina bifida occulta, Tracheoesophageal fist... |
OMIM:619227 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Median cleft lip, Cleft palate |
ORPHA:2165 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Brachycephaly, Hydrocephalus |
OMIM:612247 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Narrow mouth, Abnormal heart morphology, Cleft upper lip, Cleft palate |
OMIM:239800 |
| Dihydropyrimidinase Deficiency |
|
Anal atresia, Plagiocephaly |
OMIM:222748 |
| Pai Syndrome |
|
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate |
ORPHA:1993 |
| Aica-Ribosiduria |
|
Thin upper lip vermilion, Brachycephaly, Wide mouth |
ORPHA:250977 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Trisomy 8Q |
|
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... |
ORPHA:1752 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal ascites, Myocardit... |
ORPHA:292 |
| Isolated Cleft Lip |
|
Polyhydramnios, Situs inversus totalis, Non-midline cleft lip, Umbilical hernia, Hypodontia, Supe... |
ORPHA:199302 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Microphthalmia, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Long philtrum, Thin vermilion border, Delayed closure of the anterior fontanelle, Downturned corn... |
OMIM:610759 |
| Developmental And Epileptic Encephalopathy 84 |
|
Thick lower lip vermilion, Smooth philtrum, Plagiocephaly |
OMIM:618792 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... |
OMIM:614188 |
| Aarskog-Scott Syndrome |
|
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... |
ORPHA:915 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... |
OMIM:619313 |
| Enlarged Parietal Foramina |
|
Craniosynostosis, Symmetrical, oval parietal bone defects, Cleft lip, Cleft palate, Myelomeningocele |
ORPHA:60015 |
| Alkuraya-Kucinskas Syndrome |
|
Arthrogryposis multiplex congenita, Pericardial effusion, Camptodactyly, Edema, High palate, Hydr... |
OMIM:617822 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate |
OMIM:244200 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Short mandibular rami, Wide mouth, Non-midline cleft lip, Oral clef... |
ORPHA:2549 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... |
ORPHA:1908 |
| Acromelic Frontonasal Dysostosis |
|
U-Shaped upper lip vermilion, Brachycephaly, Cleft upper lip, Cleft palate |
OMIM:603671 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Short philtrum, Microphthalmia, Cleft palate, Abnormal oral frenulum mor... |
ORPHA:1617 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Smooth philtrum, Ca... |
OMIM:618652 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Orofaciodigital Syndrome Vi |
|
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum |
OMIM:277170 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
| Isotretinoin Syndrome |
|
Biparietal narrowing, Spina bifida occulta, Cleft palate |
ORPHA:2305 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... |
ORPHA:199306 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Midface retrusion, Unilateral cleft lip, Prominent occiput, Unilateral cleft palate, Submucous cl... |
OMIM:619122 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Ascites, Microphthalmia, Hydrocephalus |
ORPHA:858 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Large fontanelles, Flat occiput, Unilateral cleft lip, Delayed cranial suture closure, Brachycephaly |
ORPHA:2511 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Biparietal narrowing, Abnormality of the philtrum, Non-midline cleft lip, Umbilical hernia, Cleft... |
ORPHA:1770 |
| Anauxetic Dysplasia 3 |
|
Midface retrusion, Oligodontia, Wide anterior fontanel, Plagiocephaly |
OMIM:618853 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, No... |
ORPHA:1335 |
| Pierpont Syndrome |
|
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Thin upper l... |
ORPHA:487825 |
| Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cl... |
OMIM:147250 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Ascites, Angioedema |
ORPHA:36412 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Umbilical hernia, Open mouth |
ORPHA:500159 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral cleft lip, Glossoptosis, Ventricular septal defect |
OMIM:618021 |
| Culler-Jones Syndrome |
|
Midface retrusion, Cleft upper lip, Cleft palate |
OMIM:615849 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:264480 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Primary Intestinal Lymphangiectasia |
|
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites |
ORPHA:90362 |
| Holoprosencephaly 11 |
|
Holoprosencephaly, Cleft lip, Cleft palate |
OMIM:614226 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Short philtrum, Frontal bossing, Wide mouth, Thick vermilion border, Plagiocephaly, Brachycephaly... |
OMIM:280000 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
| Aymé-Gripp Syndrome |
|
Long philtrum, Oligodontia, Craniosynostosis, Narrow mouth, Large fontanelles, Prominent metopic ... |
ORPHA:1272 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Aganglionic megacolon, Tented upper lip vermilion, Meningocele, Cleft upper lip, Cl... |
ORPHA:894 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Midface retrusion, Cleft palate, High palate, Tooth agenesis |
ORPHA:1135 |
| Acrofacial Dysostosis, Palagonia Type |
|
Oligodontia, Midface retrusion, Unilateral cleft lip, Supernumerary tooth, Spina bifida occulta, ... |
ORPHA:1787 |
| Fibrochondrogenesis |
|
Wide anterior fontanel, Narrow mouth, Plagiocephaly, Cleft palate |
ORPHA:2021 |
| Naxos Disease |
|
Cleft upper lip, Cardiomyopathy |
ORPHA:34217 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip, Tooth agenesis |
OMIM:147950 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Cleft upper lip |
OMIM:216100 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Microphthalmia, Cleft ... |
OMIM:611134 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Blepharonasofacial Malformation Syndrome |
|
Long philtrum, Cleft palate, Non-midline cleft lip, Tooth agenesis |
ORPHA:1252 |
| Saethre-Chotzen Syndrome |
|
Open bite, Craniosynostosis, Narrow palate, Plagiocephaly, Delayed cranial suture closure, Brachy... |
ORPHA:794 |
| Trichohepatoneurodevelopmental Syndrome |
|
Macroglossia, Downturned corners of mouth, Dental crowding, Midface retrusion, Steatorrhea, Plagi... |
OMIM:618268 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion, Stomatitis |
OMIM:613011 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Microphthalmia, Downturned corners of mouth, Ventricular septal defect |
ORPHA:93267 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Wide... |
ORPHA:261236 |
| Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Pleural effusion, Pericardial effusion, Edema, Ascites, Myositis |
ORPHA:93552 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Deep philtrum, Cleft upper lip, Cleft palate, High palate |
OMIM:206920 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Oligodontia, Macroglossia, Craniosynostosis, Downturned corners of mouth, Branchial anomaly, Open... |
ORPHA:453499 |
| Faciocardiorenal Syndrome |
|
Hypoplastic philtrum, Plagiocephaly, Hypodontia, Cleft palate |
OMIM:227280 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Camptodactyly, Micropht... |
OMIM:214150 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Prominent metopic ridge, Median cleft lip |
OMIM:617926 |
| Monosomy 18P |
|
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Lymphedema, Holopr... |
ORPHA:1598 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Pericardial effusion, Abnormal myocardium morphology, Muscular dystrophy |
ORPHA:300751 |
| Oculofaciocardiodental Syndrome |
|
Long philtrum, Oligodontia, Fused teeth, Delayed eruption of teeth, Tooth malposition, Abnormal p... |
ORPHA:2712 |
| Rapp-Hodgkin Syndrome |
|
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... |
OMIM:129400 |
| Trisomy 9P |
|
Impacted tooth, Downturned corners of mouth, Dental crowding, Non-midline cleft lip, Brachycephaly |
ORPHA:236 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Facial hypotonia, Smooth philtrum, Microphthalmia, Cleft soft palate |
OMIM:614526 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Tooth malposi... |
ORPHA:96170 |
| Orofaciodigital Syndrome Ix |
|
Abnormality of the dentition, Cleft palate, High palate, Median cleft lip, Accessory oral frenulum |
OMIM:258865 |
| Pierpont Syndrome |
|
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Microphthalm... |
OMIM:602342 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Ascites, Abnormal myocardium morphology, Gingival bleeding |
ORPHA:77259 |
| Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Non-midline cleft lip, Cleft palate |
ORPHA:1580 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Narrow mouth, Abnormality of dental morphology, Dental crowding, Midface retrusion, Frontal bossi... |
OMIM:612582 |
| Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Microphthalmia, Cleft u... |
OMIM:244300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:618775 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly |
OMIM:180750 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Mohr Syndrome |
|
Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue... |
OMIM:252100 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Short philtrum, Hydrops fetalis, Camptodactyly of finger, Narrow mouth... |
ORPHA:2136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Edema, Dilated cardiomyopathy, Tooth agenesis |
OMIM:605676 |
| Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
| Spondylo-Ocular Syndrome |
|
Long philtrum, Thin vermilion border, Facial hypotonia, Ventricular septal defect, Microphthalmia... |
ORPHA:85194 |
| Joubert Syndrome 1 |
|
Macroglossia, Plagiocephaly, Protruding tongue, Triangular-shaped open mouth, Occipital myelomeni... |
OMIM:213300 |
| Otodental Syndrome |
|
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... |
ORPHA:2791 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Flexion contracture... |
OMIM:616897 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Cleft palate |
OMIM:601076 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Long philtrum, Dolichocephaly, Umbilical hernia, Plagiocephaly, High, narrow palate |
ORPHA:1101 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin vermilion border, Short philtrum, Deep philtrum, Smooth philtrum, Tented upper lip vermilion... |
OMIM:618622 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Smooth philtrum, Plagiocephal... |
OMIM:618548 |
| Cofs Syndrome |
|
Camptodactyly of finger, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Microph... |
ORPHA:1466 |
| Frontofacionasal Dysplasia |
|
Midface retrusion, Brachycephaly, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Ectopia cordis, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate, Hydr... |
OMIM:313850 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
| Acute Interstitial Pneumonia |
|
Pleural effusion, Pericardial effusion, Peripheral edema |
ORPHA:79126 |
| Branchio-Oculo-Facial Syndrome |
|
Everted lower lip vermilion, Deep philtrum, Dolichocephaly, Upper lip pit, Non-midline cleft lip,... |
ORPHA:1297 |
| Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Camptodactyly of finger, Ventricular septal defect, Everted lower lip vermilion, ... |
OMIM:616920 |
| Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Non-midline cleft lip, Congenital diaphragmatic hernia, Cleft palate... |
ORPHA:2075 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Flat occiput, Plagiocephaly, High palate, Impaired mastication |
ORPHA:300570 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Acromelic Frontonasal Dysplasia |
|
Large fontanelles, Wide mouth, Meningocele, Median cleft palate, Brachycephaly, Median cleft lip |
ORPHA:1827 |
| Cranioectodermal Dysplasia 2 |
|
Craniosynostosis, Frontal bossing, Midface retrusion, Everted lower lip vermilion, Dolichocephaly... |
OMIM:613610 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Decreased muscle mass, Bilateral microphthalmos |
OMIM:608763 |
| Cerebrofaciothoracic Dysplasia |
|
Midface retrusion, Wide mouth, Brachycephaly, Cleft upper lip, Cleft palate, Broad philtrum |
ORPHA:1394 |
| Chromosome 18Q Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Umb... |
OMIM:601808 |
| Smith-Magenis Syndrome |
|
Short philtrum, Delayed eruption of primary teeth, Taurodontia, Open mouth, Midface retrusion, Fr... |
ORPHA:819 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Esophagitis, Thin vermilion border, Tented philtrum, Narrow mouth, Plagiocephaly, Brachycephaly, ... |
ORPHA:495818 |
| Atelosteogenesis Type Ii |
|
Long philtrum, Midface retrusion, Plagiocephaly, Thin upper lip vermilion, Cleft palate, Bilatera... |
ORPHA:56304 |
| Fryns Syndrome |
|
Polyhydramnios, Long philtrum, Wide mouth, Non-midline cleft lip, Tented upper lip vermilion, Tet... |
ORPHA:2059 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Wide mouth, Plagiocephaly, Short lingual frenulum, High palate |
ORPHA:1521 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Ventricular septal defect, Alobar holoprosencephaly, Solitary median... |
OMIM:301043 |
| Intellectual Disability-Strabismus Syndrome |
|
Wide mouth, Thick vermilion border, Plagiocephaly, Abnormality of the dentition, High palate |
ORPHA:363528 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Dental crowding, Thick vermilion border, Plagiocephaly, High palate, Dolichocephaly |
OMIM:619005 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the dentition, Cleft palate, Aplasia/Hypoplasia affecting... |
ORPHA:1794 |
| Acropectorovertebral Dysplasia |
|
Spina bifida, High, narrow palate, Cleft palate |
ORPHA:957 |
| Pulmonary Capillary Hemangiomatosis |
|
Pleural effusion, Pericardial effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Midface retru... |
ORPHA:3253 |
| Myhre Syndrome |
|
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Skeletal muscle hy... |
OMIM:139210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Microphthalmia, Hydrocephalus |
OMIM:613153 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Ex... |
ORPHA:26793 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Oligodontia, Abnormal dental enamel morphology, Oral cleft, Brachycephaly, Cleft upper lip, Cleft... |
OMIM:601701 |
| Cole-Carpenter Syndrome 1 |
|
Orbital craniosynostosis, Frontal bossing, Hydrocephalus, Midface retrusion, Coronal craniosynost... |
OMIM:112240 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Flexion contracture, Thin upper lip vermilion, Nonimmune hydrops fetalis, C... |
OMIM:212065 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Anasarca, Pleural effusion, Pericardial effusion, Ascites |
OMIM:618183 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Long philtrum, Exencephaly, Large fontanelles, Flat occiput, Delayed cranial suture closure, Brac... |
ORPHA:2211 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Widely spaced teeth, Frontal bossing, Plagiocephaly |
OMIM:617193 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly |
ORPHA:96190 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Narrow palate, Tooth malposition, Pericardial effusion, High palate, Long uvula, Periodontitis, U... |
ORPHA:536532 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Downturned corners of mouth, Ventricular septal de... |
ORPHA:96167 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Everted lower lip vermilion, Plagiocephaly |
OMIM:615471 |
| Acrocallosal Syndrome |
|
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Wide anter... |
OMIM:200990 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Abnormal oral mucosa morphology, Abnormality of the philtrum, Plagiocephaly |
ORPHA:2673 |
| Poems Syndrome |
|
Pleural effusion, Pericardial effusion, Edema, Ascites |
ORPHA:2905 |
| 3P25.3 Microdeletion Syndrome |
|
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Dee... |
ORPHA:435638 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Camptodac... |
OMIM:611961 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Long philtrum, Lymphedema, Deep philtrum, Thin upper lip vermilion, Microphthalmia, Thick lower l... |
OMIM:152950 |
| Cdags Syndrome |
|
Rectourethral fistula, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal ... |
OMIM:603116 |
| Osteopathia Striata With Cranial Sclerosis |
|
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Pierre-Robin sequ... |
OMIM:300373 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Long philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormal heart morphology,... |
ORPHA:404440 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Gaucher Disease Type 3 |
|
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... |
ORPHA:77261 |
| Baraitser-Winter Syndrome 2 |
|
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia |
OMIM:614583 |
| Doors Syndrome |
|
Narrow palate, Open mouth, Downturned corners of mouth, Anterior plagiocephaly, Sirenomelia, Spin... |
ORPHA:79500 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Campto... |
OMIM:256520 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Large fontanelles, Frontal bossing, Flat occiput, Thickened calvaria, ... |
ORPHA:2780 |
| Cerebrooculonasal Syndrome |
|
Craniosynostosis, Narrow palate, Downturned corners of mouth, Frontal bossing, Solitary median ma... |
OMIM:605627 |
| Endocrine-Cerebroosteodysplasia |
|
Midface retrusion, Holoprosencephaly, Natal tooth, Cleft upper lip, Cleft palate, Hydrocephalus |
OMIM:612651 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Turnpenny-Fry Syndrome |
|
Narrow mouth, Drooling, Dental crowding, Frontal bossing, Abnormality of the dentition, Plagiocep... |
OMIM:618371 |
| Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Macroglossia, Tented upper lip vermilion |
OMIM:616025 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing |
OMIM:608688 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Parietal foramina, Plagiocephaly, Delayed... |
OMIM:101400 |
| Craniofacial Dyssynostosis With Short Stature |
|
Abnormal shape of the occiput, Frontal bossing, Midface retrusion, Brachycephaly, Brachyturriceph... |
OMIM:218350 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Hydrocephalus |
ORPHA:1528 |
| Treacher-Collins Syndrome |
|
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Fro... |
ORPHA:861 |
| Holoprosencephaly 9 |
|
Short philtrum, Midface retrusion, Holoprosencephaly, Agenesis of incisor, Bilateral cleft lip an... |
OMIM:610829 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Brachyceph... |
OMIM:618736 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contractur... |
OMIM:613150 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Opitz Gbbb Syndrome, Type Ii |
|
Hiatus hernia, Craniosynostosis, Frontal bossing, Anal stenosis, Smooth philtrum, Umbilical herni... |
OMIM:145410 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal ... |
OMIM:618804 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Frontal bossing, Tongue nodules, B... |
OMIM:311200 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
| Cerebrooculonasal Syndrome |
|
Long philtrum, Solitary median maxillary central incisor, U-Shaped upper lip vermilion, Brachycep... |
ORPHA:66625 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Microdontia, Plagiocephaly |
OMIM:261990 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Cleft palate |
ORPHA:2521 |
| Aicardi Syndrome |
|
Hiatus hernia, Short philtrum, Plagiocephaly, Intestinal polyposis, Cleft upper lip, Cleft palate... |
ORPHA:50 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Wide anterior fontanel, Dental crowding, Skull asymmetry, Cleft uppe... |
OMIM:257920 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Atrial septal defect, Narrow palate, Ventricular septal defect, Camptodactyly, Fl... |
OMIM:605039 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... |
OMIM:607598 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypodontia, Selective tooth agenesis, Cleft upper lip, Cleft palate, C... |
OMIM:106260 |
| Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Atrial septal defect, Narrow palate, Narrow mouth, Oligohy... |
ORPHA:3380 |
| Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Carious teeth, Atrial septal defect, Taurodontia, Joint contracture of the 5th... |
OMIM:164200 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, Ventricular septal defect |
ORPHA:290 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Camptodactyly of finger, Microphthalmia |
ORPHA:2547 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long philtrum, Carious teeth, Craniosynostosis, Frontal bossing, Midface retrusion, Dentinogenesi... |
ORPHA:536467 |
| Adnp Syndrome |
|
Smooth philtrum, Umbilical hernia, Plagiocephaly, Thin upper lip vermilion, Trigonocephaly, Brach... |
ORPHA:404448 |
| Microphthalmia, Syndromic 13 |
|
Diastema, Microphthalmia |
OMIM:300915 |
| Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
| 16P13.2 Microdeletion Syndrome |
|
Brachycephaly, Hydrocephalus, Plagiocephaly |
ORPHA:500055 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Wide mouth, Submucous cleft hard palate, Unilateral cleft lip, Thick l... |
OMIM:619103 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Microphthalmia |
ORPHA:1473 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Ventricular septal defect, Camptodactyly of toe, Deep philtrum, Abnormality of the dent... |
ORPHA:251038 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small thenar eminence, Delayed eruption of teeth, Short philtrum, Open mouth, Camptodactyly, Anen... |
OMIM:619148 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Duane Retraction Syndrome |
|
Everted lower lip vermilion, Plagiocephaly, Spina bifida occulta, Cleft palate |
ORPHA:233 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Downturned corners of mouth, Abnormal heart morphology, Deep philtrum, Cleft lip, ... |
OMIM:618571 |
| Hemifacial Microsomia |
|
Hypoplasia of facial musculature, Branchial anomaly, Ventricular septal defect, Wide mouth, Cleft... |
OMIM:164210 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
| Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Cleft palate |
ORPHA:246 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Microphthalmia, Tented upper lip vermilion |
OMIM:614105 |
| Popliteal Pterygium Syndrome |
|
Cleft palate, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Spina bifida occulta |
OMIM:119500 |
| Holoprosencephaly 3 |
|
Midface retrusion, Holoprosencephaly, Solitary median maxillary central incisor, Proboscis, Cleft... |
OMIM:142945 |
| Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Pleural effusion, Pericardial effusion |
OMIM:108050 |
| Hartsfield Syndrome |
|
Craniosynostosis, Cleft palate, Cleft upper lip, Lobar holoprosencephaly, Hypoplasia of the front... |
OMIM:615465 |
| Frontofacionasal Dysplasia |
|
Midface retrusion, Oral cleft, Brachycephaly, Cleft upper lip, Bifid uvula, Hypoplasia of the fro... |
OMIM:229400 |
| Warburg Micro Syndrome 1 |
|
Thin vermilion border, Microphthalmia, Narrow mouth |
OMIM:600118 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Median cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Natal ... |
OMIM:269860 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mit... |
ORPHA:2008 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Non-midline cleft lip, Cleft palate, Abnormal intestine morphology, Tracheoesophagea... |
ORPHA:1848 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Hypoplasia of teeth, Microphthalmia, Cleft palate, Microdontia, Widely spac... |
ORPHA:2728 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Linear Nevus Sebaceus Syndrome |
|
Biparietal narrowing, Prominent occiput, Frontal bossing, Plagiocephaly |
ORPHA:2612 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Microphthalmia, Anophthalmia, Hydrocephalus |
ORPHA:77298 |
| Ring Chromosome 7 Syndrome |
|
Thin vermilion border, Short philtrum, Narrow mouth, Holoprosencephaly, Plagiocephaly, Median cle... |
ORPHA:1449 |
| Oculocerebrocutaneous Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia |
OMIM:164180 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Cleft palate |
ORPHA:96181 |
| Acrofrontofacionasal Dysostosis 1 |
|
Oligodontia, Wide mouth, Brachycephaly, Cleft upper lip, Cleft palate |
OMIM:201180 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Camptodactyly of finger, Spina bifida, Atrial septal defect, Hydrops fetalis, Oli... |
ORPHA:99776 |
| Bartsocas-Papas Syndrome |
|
Narrow mouth, Median cleft lip, Cleft palate |
ORPHA:1234 |
| Temtamy Syndrome |
|
Abnormal palate morphology, Thick lower lip vermilion, Microphthalmia |
ORPHA:1777 |
| Craniofrontonasal Syndrome |
|
Frontal bossing, Abnormality of the dentition, Umbilical hernia, Cleft palate, Brachycephaly, Cle... |
OMIM:304110 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Hydrocephalus, Open mouth, Plagiocephaly |
ORPHA:457284 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Kapur-Toriello Syndrome |
|
Oral cleft, Tetralogy of Fallot, Microphthalmia, Ventricular septal defect |
ORPHA:2328 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... |
ORPHA:370959 |
| Q Fever |
|
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusi... |
ORPHA:781 |
| Ellis-Van Creveld Syndrome |
|
