| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Diastema, Median cleft lip |
ORPHA:401942 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Telecanthus |
|
Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
| Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
| Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip, Encephalocele, Parietal foramina |
OMIM:168500 |
| Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Prominent occiput, Platybasia, Frontal bossing, Cleft palate |
ORPHA:217 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft palate, Cleft upper lip, Atrophic gastritis |
OMIM:137215 |
| Thomas Syndrome |
|
Cleft palate, Cleft upper lip, Dolichocephaly |
ORPHA:3316 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Cleft palate |
ORPHA:2476 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Cleft palate,... |
OMIM:613885 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate |
ORPHA:94066 |
| Gombo Syndrome |
|
Abnormal heart morphology, Microphthalmia |
OMIM:233270 |
| Kleefstra Syndrome 2 |
|
Everted lower lip vermilion, Midface retrusion, Bifid uvula, Plagiocephaly |
OMIM:617768 |
| Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Short philtrum, Dolichocephaly, Alobar holoprosencepha... |
OMIM:615433 |
| Mmep Syndrome |
|
Ventricular septal defect, Orofacial cleft, Microphthalmia, Median cleft lip |
ORPHA:3434 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing |
OMIM:311895 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Long philtrum, Hydrocephalus, Midface retrusion, Unilambdoid synost... |
OMIM:618577 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Deep philtrum, Incomplete cleft of the upper lip, Intestinal malrotation, Orofacia... |
ORPHA:77300 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Orofacial cleft |
ORPHA:85287 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Dental crowding, Plagiocephaly, Frontal bossing |
OMIM:619264 |
| Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
| Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... |
OMIM:616602 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, High palate, Plagiocephaly, Cleft palate, Tooth malposition |
OMIM:618603 |
| Developmental And Epileptic Encephalopathy 65 |
|
Tented upper lip vermilion, Plagiocephaly |
OMIM:618008 |
| Cebalid Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platy... |
OMIM:618774 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Oligodontia, Plagiocephaly, Frontal bossing |
OMIM:618330 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Edema, Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Hartsfield Syndrome |
|
Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Cleft palate, Craniosynostosis |
ORPHA:2117 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:63862 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Long philtrum, Wide mouth, Pericardial effusion, Upturned corners of mouth, Thin upper lip vermilion |
OMIM:614684 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Long philtrum, Bifid uvula, Everted lower lip vermilion, Downturned corners of mou... |
OMIM:618089 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft upper lip, Cleft palate |
OMIM:611561 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Long philtrum, Lymphedema, T... |
OMIM:239850 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Hydrocephalus |
OMIM:258320 |
| 2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Narrow mouth, Microphthalmia |
ORPHA:3469 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Short philtrum, Midface retrusion, Downturned corners of mouth, Tooth agenesis, Ma... |
OMIM:618731 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Cleft palate, Craniosynostosis |
OMIM:618265 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Anterior encephalocele, Bilateral cleft lip, Holoprosencephaly, Bilateral cleft ... |
OMIM:601357 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Brachyturricephaly, Frontal bossing, Cleft palate, High... |
OMIM:607597 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly, Thick vermilion border |
OMIM:619927 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
| 6Q25 Microdeletion Syndrome |
|
Cleft palate, High palate, Long philtrum, Plagiocephaly |
ORPHA:251056 |
| Microphthalmia, Syndromic 8 |
|
Cleft palate, Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft |
OMIM:601349 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Hydrocephalus, High, narrow palate |
ORPHA:53271 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Dolichocephaly, Downturned corne... |
OMIM:618672 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum, Cleft palate |
ORPHA:1973 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Orofacial cleft |
OMIM:611638 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Abnormal cardiac septum morphology, Wide mouth, Pericardial effusion, Edema, Ascites |
OMIM:608776 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum |
ORPHA:46 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Calvarial skull defect, Cleft palate |
ORPHA:945 |
| Band Heterotopia |
|
Hydrocephalus, Plagiocephaly |
OMIM:600348 |
| Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Median cleft lip |
DECIPHER:46 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Wide mouth, Macroglossia, Frontal bossing, Everted lower lip vermil... |
OMIM:616789 |
| Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, High palate, Plagiocephaly, Coronal craniosynostosis, Midface... |
OMIM:602849 |
| Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Deep philtrum, Short philtrum, Frontal bossing, Cleft palate, High, narrow palate |
OMIM:617808 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uvula, Hydrocephalus, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion |
OMIM:309545 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
| Zechi-Ceide Syndrome |
|
Cleft palate, Cleft upper lip, Midface retrusion, Oligodontia |
OMIM:612916 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Plagiocephaly, Deep philtrum, Microdontia, Diastema, Cleft palate |
OMIM:605282 |
| Charlie M Syndrome |
|
Non-midline cleft lip, Short philtrum, Narrow mouth, Tooth agenesis, Thin vermilion border |
ORPHA:1406 |
| Craniofrontonasal Dysplasia |
|
Brachycephaly, High palate, Plagiocephaly, Frontal bossing, Orofacial cleft, Craniosynostosis, Ab... |
ORPHA:1520 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis |
ORPHA:2414 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
High palate, Plagiocephaly, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion... |
OMIM:616579 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth p... |
OMIM:616801 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Midface retrusion, Frontal bossing, Thin upper lip vermilion, Downt... |
OMIM:618430 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly |
OMIM:615516 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Cleft palate, Transpos... |
OMIM:231060 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Brachycephaly, Hydrocephalus, Plagiocephaly, Dolichocephaly |
ORPHA:272 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Craniofacial hyperostosis, Prominent occiput, Cleft palate |
ORPHA:2725 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Brachycephaly, Thin upper lip vermilion, High palate, Plagiocephaly |
OMIM:618862 |
| Pai Syndrome |
|
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate |
ORPHA:1993 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Plagiocephaly, Long philtrum, Wide mouth, Deep philtrum, Midface retrusion, Frontal bossing, Ever... |
OMIM:619720 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Scaphocephaly, Plagiocephaly, Frontal bossing, Thin upper lip vermilion, Ope... |
OMIM:619149 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Short mandibular rami, Cleft palate, Orofacial cleft |
OMIM:141400 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hernia... |
OMIM:615524 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Long philtrum, Smooth philtrum |
OMIM:618821 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip, Hydrocephalus |
ORPHA:398189 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Hypodontia, Microdontia, Anodontia, Cleft palate |
OMIM:225060 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Plagiocephaly, Aganglionic megacolon, Hydrocephalus, Short philtrum, Midface ret... |
OMIM:239300 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft palate, Cleft upper lip |
OMIM:601016 |
| Autosomal Recessive Amelia |
|
Polyhydramnios, Non-midline cleft lip, Abnormal cardiac septum morphology, Orofacial cleft |
ORPHA:1027 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, High palate, Median cleft lip |
OMIM:155145 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Narrow palate, Plagiocephaly |
OMIM:617481 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Cleft palate, Cleft upper lip, Bifid uvula |
OMIM:300958 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Orofaciodigital Syndrome Viii |
|
Cleft palate, High palate, Median cleft lip |
OMIM:300484 |
| Developmental And Epileptic Encephalopathy 110 |
|
Tented upper lip vermilion, Posterior plagiocephaly, High palate |
OMIM:620149 |
| Triopia |
|
Encephalocele, Dolichocephaly, Frontal bossing, Median cleft lip, Cleft palate |
ORPHA:3374 |
| Bresek Syndrome |
|
Cleft palate, Hydrocephalus, Plagiocephaly, Aganglionic megacolon |
ORPHA:85284 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Short philtrum, Dolichocephaly,... |
OMIM:612530 |
| Intellectual Disability, Wolff Type |
|
Thick lower lip vermilion, Non-midline cleft lip, Abnormal intestine morphology, Orofacial cleft |
ORPHA:3080 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, High palate, Limb hypertonia, Pericardial effusion, Atrial septal defect, Downtur... |
OMIM:620070 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Narrow palate, Plagiocephaly, Anal atresia, Abnormal palate morpholog... |
ORPHA:2063 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Anal atresia |
OMIM:119580 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Ventricular se... |
OMIM:115197 |
| Adducted Thumbs Syndrome |
|
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis |
OMIM:201550 |
| Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Wide mouth, Abnormal calvaria morphology, Holoprosencephaly, Cleft palate |
ORPHA:1636 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Dolichocephaly, Frontal bossing |
OMIM:619721 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Plagiocephaly, Aganglionic megacolon, Anal atresia, Tented upper lip ... |
OMIM:614749 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip |
OMIM:142946 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Midface retrusion, Ma... |
ORPHA:369891 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip |
ORPHA:1919 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Tented upper lip vermilion, Open mouth, Hydrocephalus, Plagiocephaly |
OMIM:616362 |
| Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip |
OMIM:244600 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Myelomeningocele, Cleft lip, Cleft palate, Occipital encephalocele, Craniosyno... |
ORPHA:60015 |
| Osteogenesis Imperfecta, Type Xx |
|
Brachycephaly, High palate, Narrow palate, Plagiocephaly, Midface retrusion, Agenesis of permanen... |
OMIM:618644 |
| Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Long philtrum, Ventricular septal defect, Prominent median palatal raphe, Pericar... |
ORPHA:363705 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Plagiocephaly, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental cr... |
OMIM:618106 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Plagiocephaly, Short philtrum, Frontal bossing, Umbilical hernia |
OMIM:618354 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Short philtrum, Downturned corners of mouth, Smooth philtrum |
OMIM:613192 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Muscular dystrophy, Congenital muscul... |
OMIM:613155 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Wide mouth, Ectopic anus, Coronal craniosynostos... |
ORPHA:85199 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, High palate, Long philtrum, Frontal bossing, Downturned corners of mouth, Cleft pa... |
ORPHA:163649 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Non-midline cleft lip, Tooth agenesis, Bilateral cleft lip and palate |
ORPHA:2003 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Everted lower lip vermilion, Cleft lip, Tented upper lip vermilion, Cleft palate |
OMIM:616898 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, Cleft upper lip, High palate, Cleft palate |
OMIM:602418 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Plagiocephaly, Short lingual frenulum, Microdontia, Short philtrum, Pr... |
OMIM:617360 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Plagiocephaly, Wide mouth, Widely spaced teeth, Microdont... |
OMIM:619293 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Plagiocephaly |
OMIM:607313 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy, Hydrocephalus, Microphthalmia, Occipital encephalocele, Orofacial ... |
ORPHA:324416 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
| Malan Overgrowth Syndrome |
|
Scaphocephaly, High palate, Plagiocephaly, Frontal bossing, Narrow mouth |
ORPHA:420179 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Ventricular septal defect, Joint contracture of the hand, Delayed eruption of teet... |
OMIM:235510 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pericardial effusion, Hydrocephalus, Macroglossia, Pleural effusion, Hypertrophi... |
OMIM:261740 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip |
OMIM:214300 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:3210 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
High palate, Plagiocephaly, Short philtrum, Thin upper lip vermilion, Smooth philtrum |
OMIM:619188 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Delayed eruption of teeth |
OMIM:600252 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Plagiocephaly, Deep philtrum, Hydrocephalus, Tented upper lip vermilion, Exaggerated... |
OMIM:619833 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
| Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, High palate, Narrow palate, Wide mouth, Plagiocephaly, Short philtrum, Thick vermi... |
OMIM:619435 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Cleft palate, Pierre-Robin sequence, Midface retrusion |
OMIM:184840 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:236410 |
| Trisomy 20P |
|
Brachycephaly, Plagiocephaly, Ectopic anus, Spina bifida, Microdontia, Short philtrum, Dolichocep... |
ORPHA:261318 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Acrofrontofacionasal Dysostosis |
|
Brachycephaly, Non-midline cleft lip, High palate, Midface retrusion, Everted lower lip vermilion... |
ORPHA:1784 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft lip, Midface retrusion, Bilateral cleft palate, Pala... |
OMIM:616788 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Cleft upper lip, Ventricular septal defect, Mitral valve prolapse, Bifid... |
OMIM:612561 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft palate, Cleft upper lip, High palate |
OMIM:609654 |
| Prune1-Related Neurological Syndrome |
|
Tongue fasciculations, Plagiocephaly |
ORPHA:544469 |
| Triploidy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Polyhydramnios, Wide mo... |
ORPHA:3376 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Cleft palate, Cleft upper lip, Brachycephaly |
OMIM:268850 |
| Trisomy 8Q |
|
Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Abnormal oral frenulum morpho... |
ORPHA:1752 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Plagiocephaly, High palate, Long philtrum, Flat occiput, Tented upper lip vermilion, Thick vermil... |
OMIM:619383 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth philtrum, Tented... |
ORPHA:371364 |
| Hydrolethalus |
|
Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Hydrocephalus, Submucous cleft hard pa... |
ORPHA:2189 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Median cleft lip, Microglossia, Cleft palate, Occipital encephalocele |
OMIM:241800 |
| Holoprosencephaly 7 |
|
Cranial asymmetry, Bilateral cleft lip, Hydrocephalus, Semilobar holoprosencephaly, Midface retru... |
OMIM:610828 |
| Fg Syndrome Type 1 |
|
High palate, Long philtrum, Wide mouth, Plagiocephaly, Abnormal large intestine morphology, Pylor... |
ORPHA:93932 |
| Pentasomy X |
|
Plagiocephaly |
ORPHA:11 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Plagiocephaly |
ORPHA:1143 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus,... |
ORPHA:1908 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Ascites, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Cleft palate, Microphthalmia, Atrial septal defect |
ORPHA:261272 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Bifid uvula, Short philtrum, Narrow mouth, Thin vermilion border, Cleft palate |
OMIM:608572 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Plagiocephaly |
OMIM:614563 |
| Raine Syndrome |
|
Brachycephaly, Enamel hypoplasia, High palate, Plagiocephaly, Wide mouth, Natal tooth, Brachyturr... |
OMIM:259775 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Holoprosencephaly, Median cleft lip |
ORPHA:2165 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Intestinal malrotation, Thin upper lip vermilion, Downturned corners of mouth, Cle... |
ORPHA:457193 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Brachycephaly, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Midface retrusion, Anal atr... |
ORPHA:261652 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Aganglionic megacolon, Bifid uvula, Short philtrum, An... |
ORPHA:247262 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Short philtrum, Abnormal oral frenulum morphology, Microphthalmia, Cleft... |
ORPHA:1617 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Thin upper lip vermilion, Craniosy... |
ORPHA:314575 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Holoprosencephaly, Plagiocephaly, Craniosynostosis |
ORPHA:2163 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Downturned corners of mout... |
OMIM:618652 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, High palate, Cardiomyopathy |
OMIM:620089 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Non-midline cleft lip, Encephalocele, Midface retrusion, Cleft palate |
ORPHA:1791 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Cleft pal... |
ORPHA:915 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Hypodontia, Cleft palate, Macrodontia, Abnormal dental enamel morphology |
ORPHA:2916 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Pericardial effusion, Hydrocephalus, Camptodactyly, Pleural effusion, Edema, Arthrog... |
OMIM:617822 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Plagiocephaly, Pyloric stenosis, Submucous cleft hard palate, Midface... |
ORPHA:457279 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Cleft upper lip, Flexion contracture, Amyoplasia, Edema, Cleft palate, Hypoplasti... |
OMIM:312150 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Dental crowding |
OMIM:617296 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Microphthalmia, Smooth philtrum, Ventricular septal defect |
OMIM:602501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... |
ORPHA:292 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Long philtrum, Broad alveolar ridges, Advanced eruption of teeth, Midface retrusio... |
ORPHA:2215 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Midface retrusion, Submucous cleft hard palate, Prominent occiput, Unilateral cleft palate, Unila... |
OMIM:619122 |
| Developmental And Epileptic Encephalopathy 84 |
|
Thick lower lip vermilion, Plagiocephaly, Smooth philtrum |
OMIM:618792 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Plagiocephaly, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesop... |
OMIM:619227 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Opitz-Kaveggia Syndrome |
|
Cleft upper lip, Narrow palate, Long philtrum, Wide mouth, Plagiocephaly, Thick lower lip vermili... |
OMIM:305450 |
| Isotretinoin Syndrome |
|
Spina bifida occulta, Cleft palate, Biparietal narrowing |
ORPHA:2305 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Open mouth, Plagiocephaly, Umbilical hernia |
OMIM:617751 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Occipital encephalocele, Craniosynostosis |
OMIM:614416 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Cleft upper lip, High palate, Abnormality of dental morphology, Hydrocephalus, Mid... |
OMIM:612582 |
| Holoprosencephaly 11 |
|
Cleft palate, Holoprosencephaly, Cleft lip |
OMIM:614226 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Biparietal narrowing, Cleft palate, Umbilical... |
ORPHA:1770 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Long philtrum, Wide mouth, Midface retrusion, Thin upper lip vermilion, Trigonoc... |
OMIM:243310 |
| Noonan Syndrome 13 |
|
High palate, Long philtrum, Wide mouth, Widely spaced teeth, Plagiocephaly, Microdontia, U-Shaped... |
OMIM:619087 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, High palate, Microphthalmia |
ORPHA:2528 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Biparietal narrowing, Thin upper lip vermilion, Smooth philtr... |
ORPHA:1915 |
| Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip, Midface retrusion |
OMIM:615849 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Cleft upper lip, Spina bifida, Aganglionic megacolon, Tented upper lip vermilion, Cl... |
ORPHA:894 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft palate, Cleft lip |
OMIM:612370 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachycephaly, High palate, Long philtrum, Plagiocephaly, Microdontia, Frontal bossing, Thin uppe... |
OMIM:610759 |
| Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal heart valve morphology |
ORPHA:36412 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate, Plagiocephaly |
OMIM:619680 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Cleft upper lip |
OMIM:216100 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Midface retrusion, High palate, Cleft palate |
ORPHA:1135 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly |
OMIM:308350 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventricular septal defect,... |
ORPHA:1335 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Open mouth, Plagiocephaly, Umbilical hernia |
ORPHA:500159 |
| Pierpont Syndrome |
|
Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Smoot... |
ORPHA:487825 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphedema, Noni... |
OMIM:153400 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
| Hydrolethalus Syndrome 2 |
|
Cleft palate, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Brachycephaly, Parietal foramina, Anterior plagiocephaly, Encephalocele, Widely sp... |
OMIM:613451 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Blepharonasofacial Malformation Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Long philtrum, Cleft palate |
ORPHA:1252 |
| Acrofacial Dysostosis, Palagonia Type |
|
Oligodontia, Midface retrusion, Supernumerary tooth, Spina bifida occulta, High, narrow palate, U... |
ORPHA:1787 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip |
OMIM:244200 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Prominent occiput, S... |
OMIM:200990 |
| Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median maxillary centr... |
OMIM:147250 |
| Trisomy 13 |
|
Hydrops fetalis, Long philtrum, Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of th... |
ORPHA:3378 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Stomatitis |
OMIM:613011 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Ankyloglossia, Bifid uvula, Aganglionic ... |
OMIM:174300 |
| Aica-Ribosiduria |
|
Brachycephaly, Thin upper lip vermilion, Wide mouth |
ORPHA:250977 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Ascites, Generalized edema |
ORPHA:90362 |
| Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
| Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Anal atresia, Frontal bossing, Unilateral cleft lip, Solitary media... |
OMIM:300000 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Ventricular septal defect |
OMIM:613730 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, Abnormal heart morphology, Cleft palate, Small thenar eminence |
OMIM:239800 |
| Orofaciodigital Syndrome Ix |
|
High palate, Median cleft lip, Accessory oral frenulum, Cleft palate, Abnormality of the dentition |
OMIM:258865 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Plagiocephaly, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Short p... |
OMIM:280000 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Long philtrum, Ventricular septal defect, Atrial septal defect, Oligohydram... |
OMIM:618494 |
| Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Pericardial effusion, Pleural effusion, Edema, Myositis, Ascites |
ORPHA:93552 |
| Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Microdontia, Dolichocephaly, Ev... |
ORPHA:1297 |
| Dystonia, Juvenile-Onset |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
| Anauxetic Dysplasia 3 |
|
Midface retrusion, Oligodontia, Plagiocephaly |
OMIM:618853 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Atrioventricular canal defect, Wide ... |
ORPHA:2549 |
| Craniosynostosis 2 |
|
Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ... |
OMIM:604757 |
| Thoracoabdominal Syndrome |
|
Cleft palate, Anencephaly, Hydrocephalus, Cleft upper lip |
OMIM:313850 |
| Trisomy 9P |
|
Brachycephaly, Non-midline cleft lip, Downturned corners of mouth, Dental crowding, Impacted tooth |
ORPHA:236 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Cleft palate, Occipital encephalocele |
OMIM:612284 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Pansynostosis |
OMIM:180750 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Short philtrum, Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Deep philtrum, Bilateral cleft lip, Bifid uvula, Short philtrum, Thin upper lip vermilion, Thin v... |
OMIM:618622 |
| Gaucher Disease Type 1 |
|
Pedal edema, Pericardial effusion, Gingival bleeding, Ascites, Abnormal myocardium morphology |
ORPHA:77259 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Flat occiput, Unilateral cleft lip |
ORPHA:2511 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Encephalocele, Ventricular septal defect, Hydrocephalus, Median cleft lip and pa... |
OMIM:264480 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy |
ORPHA:300751 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at... |
OMIM:600987 |
| Distal Monosomy 10P |
|
Non-midline cleft lip, Anal atresia, Cleft palate, Ectopic anus |
ORPHA:1580 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft palate, Cleft upper lip |
OMIM:601076 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Abnormal cardiac septum morphology, Delayed eruption of teeth, ... |
ORPHA:2712 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Cleft upper lip, Delayed eruption of primary teeth, Taurodontia, Short philtrum, M... |
ORPHA:819 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Brachycephaly, Encephalocele, Wide mouth, Median cleft lip, Median cleft palate |
ORPHA:1827 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip, Tooth agenesis |
OMIM:147950 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Plagiocephaly, Wide mouth, Thick vermilion border, Abnormality of the dentition |
ORPHA:363528 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Polyhydramnios, Bilateral cleft lip, Hypo... |
ORPHA:199302 |
| Au-Kline Syndrome |
|
Dental malocclusion, Sagittal craniosynostosis, Bifid tongue, High palate, Plagiocephaly, Oligodo... |
OMIM:616580 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth |
OMIM:217150 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly |
OMIM:619910 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, High palate, Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Ventricular septal defect, Limb hypertonia, Thick lower ... |
OMIM:616920 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Turricephaly, Aganglionic megacolon, Hydrocephalus, Short philtrum, Frontal bossing |
OMIM:613603 |
| Pierpont Syndrome |
|
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Microphthalmia,... |
OMIM:602342 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Cleft palate, Plagiocephaly, Smooth philtrum |
OMIM:615656 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
| Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Anal atresia |
OMIM:222748 |
| Cofs Syndrome |
|
Everted lower lip vermilion, Camptodactyly of finger, Microphthalmia, Arthrogryposis multiplex co... |
ORPHA:1466 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Hypodontia, Abnormality of dental morphology, Anodontia, Midface retrusion, Abno... |
ORPHA:3253 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Hydrops fetalis, Delayed eruption of teeth, Pericardial effusion, Lymphe... |
ORPHA:2136 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Atrial septal defect, Facial hypotonia, Microphthalmia, Smooth philtrum |
OMIM:614526 |
| Monosomy 18P |
|
Lymphedema, Hypodontia, Short philtrum, Downturned corners of mouth, Holoprosencephaly, Microphth... |
ORPHA:1598 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Branchial anomaly, Plagiocephaly, Oligodontia, Bifid uvula, Macroglossia, Downturned... |
ORPHA:453499 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
| Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Cleft upper lip, Hypoplasia of the frontal bone, Cranium bifidum occultum, Bifid u... |
OMIM:229400 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Microphthalmia, Frontal encephalocele |
ORPHA:1528 |
| Cerebrofaciothoracic Dysplasia |
|
Brachycephaly, Cleft upper lip, Wide mouth, Midface retrusion, Cleft palate, Broad philtrum |
ORPHA:1394 |
| Naxos Disease |
|
Cleft upper lip |
ORPHA:34217 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Oculomaxillofacial Dysostosis |
|
Cleft palate, Abnormality of the dentition, Median cleft lip |
ORPHA:1794 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Myelomeningocele, Bifid tongue, High palate... |
OMIM:311200 |
| Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
| Spondylo-Ocular Syndrome |
|
Long philtrum, Ventricular septal defect, Facial hypotonia, Microphthalmia, Thin vermilion border... |
ORPHA:85194 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly |
ORPHA:96190 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cleft palate, Anophthalmia, Orbital encephalocele |
OMIM:164180 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Bicoronal synostosis, Anterior pla... |
OMIM:619718 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Narrow palate, Plagiocephaly, Cleft palate, Craniosynostosis, Open bite |
ORPHA:794 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Thin upper li... |
OMIM:212065 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Edema, Ascites, Lower limb hype... |
OMIM:619487 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate |
OMIM:601355 |
| Fibrochondrogenesis |
|
Cleft palate, Narrow mouth, Plagiocephaly |
ORPHA:2021 |
| Acropectorovertebral Dysplasia |
|
Spina bifida, Cleft palate, High, narrow palate |
ORPHA:957 |
| Holoprosencephaly 14 |
|
Aqueductal stenosis, Proboscis, Hydrocephalus, Alobar holoprosencephaly, Median cleft lip, Fronta... |
OMIM:619895 |
| Alg9-Cdg |
|
Hydrops fetalis, Long philtrum, Wide mouth, Ventricular septal defect, Pericardial effusion, Abno... |
ORPHA:79328 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Cleft upper lip, Encephalocele, High palate, Wide mouth, Abnormality of dental mor... |
ORPHA:861 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Short philtrum, Tented uppe... |
OMIM:614424 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Long philtrum, Dolichocephaly, High, narrow palate, Umbilical hernia |
ORPHA:1101 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pedal edema, Pleural effusion, Pulmonary edema |
ORPHA:199241 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... |
OMIM:214150 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Brachycephaly, Cleft upper lip, Oligodontia, Abnormal dental enamel morphology, Cleft palate, Oro... |
OMIM:601701 |
| Trichohepatoneurodevelopmental Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Microdontia, Midface ... |
OMIM:618268 |
| 16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Wide mouth, Thin upper lip vermilion, Holoprosencephaly, Smooth philtrum, Cleft ... |
ORPHA:261236 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Cleft upper lip, Abnormality of the dentition |
OMIM:273400 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Ventricular septal defect, Flexion contracture, Pl... |
OMIM:616897 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Long philtrum, Deep philtrum, Ventricular septal defect, Bifid uvula, Abnormal oral frenulum morp... |
ORPHA:404440 |
| Hartsfield Syndrome |
|
Cleft upper lip, Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosence... |
OMIM:615465 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Brachycephaly, High palate, Aqueductal stenosis, Long philtrum, Plagiocephaly, Hydrocephalus, Sho... |
OMIM:619512 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites |
OMIM:618183 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Short philtrum, Camptodactyly, Atrial septal def... |
OMIM:139210 |
| Atelosteogenesis Type Ii |
|
Plagiocephaly, Long philtrum, Midface retrusion, Thin upper lip vermilion, Bilateral cleft palate... |
ORPHA:56304 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
| Aymé-Gripp Syndrome |
|
Brachycephaly, Plagiocephaly, Long philtrum, Oligodontia, Hydrocephalus, Thin upper lip vermilion... |
ORPHA:1272 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip |
OMIM:618021 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Long philtrum, Smooth philtrum, Plagiocephaly |
OMIM:300749 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip |
OMIM:617926 |
| Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Hydrocephalus, Median cleft lip, Acc... |
OMIM:252100 |
| Microphthalmia With Limb Anomalies |
|
Cleft upper lip, High palate, Deep philtrum, Frontal bossing, Cleft palate |
OMIM:206920 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Flat occiput, High palate, Normal pressure hydrocephalus, Plagiocephaly |
ORPHA:300570 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... |
OMIM:129400 |
| Poems Syndrome |
|
Pericardial effusion, Edema, Ascites, Pleural effusion |
ORPHA:2905 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Joint contracture of the han... |
OMIM:244300 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
High palate, Plagiocephaly, Dolichocephaly, Frontal bossing, Dental crowding, Thick vermilion border |
OMIM:619005 |
| Emanuel Syndrome |
|
High palate, Long philtrum, Truncus arteriosus, Delayed eruption of teeth, Ventricular septal def... |
ORPHA:96170 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, High palate, Narrow palate, Periodontitis, Pericardial effusion, Mitral valve prolaps... |
ORPHA:536532 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Abnormality of the philtrum, Abnormal oral mucosa morphology, Plagiocephaly |
ORPHA:2673 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Plagiocephaly, Spina bifida, Bifid uvula, Dolichocephaly, Frontal bossing, Narrow mouth, Exaggera... |
OMIM:619480 |
| Carey-Fineman-Ziter Syndrome 1 |
|
High palate, Pierre-Robin sequence, Plagiocephaly, Microglossia, Cleft palate, Glossoptosis |
OMIM:254940 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Downturned corners of mouth, Hydrocephalus, Cleft palate |
ORPHA:2075 |
| Omodysplasia 2 |
|
Long philtrum, Bilateral cleft lip, Frontal bossing, Tented upper lip vermilion, Cleft palate |
OMIM:164745 |
| Baraitser-Winter Syndrome 2 |
|
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Orofacial cleft |
OMIM:614583 |
| Gapo Syndrome |
|
Eruption failure, Plagiocephaly, Long philtrum, Thick lower lip vermilion, Frontal bossing, High,... |
OMIM:230740 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Encephalocele, Oligohydramnios, Microphthalmia, Broad philtrum, Abnormality of the... |
ORPHA:228390 |
| Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cleft palate |
OMIM:119500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Hydrocephalus, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
| Fryns Syndrome |
|
Non-midline cleft lip, Polyhydramnios, High palate, Long philtrum, Wide mouth, Abnormal cardiac s... |
ORPHA:2059 |
| 3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Ventricular septal defect, Deep philtrum, Short philtrum, Atrial septal... |
ORPHA:435638 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Joint contracture of the hand, Camptodactyly, Atrial septal defect, Downtu... |
OMIM:611961 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Orofaciodigital Syndrome Vi |
|
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Arrhinencephaly, Incomplete cleft... |
OMIM:277170 |
| Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... |
OMIM:618804 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Cleft upper lip |
ORPHA:96181 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Brachycephaly, Exencephaly, Encephalocele, Long philtrum, Flat occiput |
ORPHA:2211 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
High palate, Plagiocephaly, Wide mouth, Short lingual frenulum, Craniosynostosis |
ORPHA:1521 |
| Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Cleft palate |
ORPHA:246 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly, Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Smooth philtrum |
OMIM:618548 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Brachycephaly, Plagiocephaly, Tented philtrum, Narrow mouth, Esophagitis, Thin vermilion border |
ORPHA:495818 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Frontal bossing, Plagiocephaly, Widely spaced teeth |
OMIM:617193 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hydrocephalus, Short philtrum, Midface... |
OMIM:610829 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Plagiocephaly, Widely spaced teeth, Microdontia, Midface retrusion, Dolichocephaly, ... |
OMIM:613610 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Cleft upper lip, Widely spaced teeth, Selective tooth agenesis, Hypodontia, Cleft ... |
OMIM:106260 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Long philtrum, Deep philtrum, Lymphedema, Thick lower lip vermilion, Thin upper lip vermilion, Mi... |
OMIM:152950 |
| Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Microphthalmia |
OMIM:300915 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Skull asymmetry, High palate, Downturned corners of mouth, Cleft palate, Cranios... |
OMIM:265050 |
| Gaucher Disease Type 3 |
|
Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Aortic valve calcificatio... |
ORPHA:77261 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Braddock-Carey Syndrome 2 |
|
Cleft palate, Pierre-Robin sequence, Microphthalmia, Wide mouth |
OMIM:619981 |
| Galloway-Mowat Syndrome 4 |
|
Plagiocephaly |
OMIM:617730 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Midface retrusion, Anal atresia, Inco... |
OMIM:616300 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Microdontia, Plagiocephaly |
OMIM:261990 |
| Doors Syndrome |
|
Brachycephaly, Short lingual frenulum, Prominent occiput, Spina bifida occulta, Sirenomelia, Clef... |
ORPHA:79500 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Congenital muscular dystrophy, Hydrocephalus, Reduced muscle fiber alpha dystroglycan, Macrogloss... |
ORPHA:370959 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, High palate, Encephalocele, Delayed eruption of teeth, Advanced eruption of ... |
OMIM:619148 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Cleft upper lip, Encephalocele, Muscular dystroph... |
OMIM:613150 |
| Joubert Syndrome 1 |
|
Plagiocephaly, Macroglossia, Protruding tongue, Triangular-shaped open mouth, Occipital myelomeni... |
OMIM:213300 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Microphthalmia |
ORPHA:2547 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft upper lip, Bifid uvula, Short philtrum, Midface retrusion, Thin upper lip vermilion, Downtu... |
OMIM:601808 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus |
OMIM:243440 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Hydrocephalus, Midface retrusion, Do... |
OMIM:612651 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, High palate, Long philtrum, Plagiocephaly, Microdontia, Hydrocephalus,... |
ORPHA:536467 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
| Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... |
OMIM:301043 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Everted lower lip vermilion, Plagiocephaly |
OMIM:615471 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Ventricular ... |
OMIM:608670 |
| Bartsocas-Papas Syndrome |
|
Cleft palate, Narrow mouth, Median cleft lip |
ORPHA:1234 |
| Constricting Bands, Congenital |
|
Cleft palate, Cleft upper lip, Encephalocele |
OMIM:217100 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Widely spaced teeth, Microdontia, Camptodactyly, Microphthalmia |
OMIM:619694 |
| Ring Chromosome 7 Syndrome |
|
Brachycephaly, Plagiocephaly, Bifid uvula, Short philtrum, Holoprosencephaly, Narrow mouth, Thin ... |
ORPHA:1449 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental malocclusion, Cleft upper lip, Pierre-Robin sequence, High palate, Natal tooth, Thick lowe... |
OMIM:300373 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Downturned corners of mouth, Microphthalmia, Cleft lip, Abnormal he... |
OMIM:618571 |
| 3Mc Syndrome 1 |
|
Cleft upper lip, Skull asymmetry, Coronal craniosynostosis, Dental crowding, Spina bifida occulta... |
OMIM:257920 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Nager Syndrome |
|
Abnormal palate morphology, Non-midline cleft lip, Wide mouth, Cleft palate |
ORPHA:245 |
| Aicardi Syndrome |
|
Cleft upper lip, Plagiocephaly, Malabsorption, Short philtrum, Intestinal polyposis, Cleft palate... |
ORPHA:50 |
| Cleidocranial Dysplasia 2 |
|
Plagiocephaly, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery f... |
OMIM:614294 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia |
ORPHA:77298 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Wide mouth, Intestinal malrotation, Posterior plagiocephaly, Duodenal atresia |
OMIM:617798 |
| Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Cleft upper lip, Wide mouth, Oligodontia, Cleft palate |
OMIM:201180 |
| Warburg Micro Syndrome 1 |
|
Thin vermilion border, Narrow mouth, Microphthalmia |
OMIM:600118 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Cleft palate |
OMIM:603194 |
| Holoprosencephaly 3 |
|
Proboscis, Bifid uvula, Midface retrusion, Solitary median maxillary central incisor, Holoprosenc... |
OMIM:142945 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Microdontia, Alveol... |
OMIM:301072 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Q Fever |
|
Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Myocarditis, Abnormal heart v... |
ORPHA:781 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Lens coloboma, Small thenar eminence, Microphthalmia, Joint contracture of ... |
OMIM:618914 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Abnormal oral frenulum morph... |
ORPHA:96167 |
