Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Anencephaly 2 |
|
Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge |
OMIM:619452 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Megaepiphyseal Dwarfism |
|
Severe short stature, Short stature, Cleft palate |
OMIM:249230 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
2q33.1 deletion syndrome |
|
Short stature, High palate, Cleft palate |
DECIPHER:51 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cleft palate |
OMIM:164180 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Short stature, Cleft palate |
ORPHA:2216 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Cleft palate, Cleft upper lip |
OMIM:613885 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Short stature, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, So... |
OMIM:147250 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Intrauterine growth retardation |
OMIM:616570 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Hydrolethalus |
|
Anophthalmia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Mi... |
ORPHA:2189 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia |
OMIM:610125 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... |
ORPHA:411986 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, ... |
ORPHA:3378 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Smooth ph... |
OMIM:611867 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate |
OMIM:600252 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... |
OMIM:619602 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Cleft upper lip, Postnatal growth retardation, Deep philtrum, Cleft palate, Growth ... |
OMIM:206920 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... |
OMIM:601349 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Microcephaly, Paucity of anterior horn motor neurons, Cry... |
OMIM:611890 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Microphthalmia |
ORPHA:77298 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardation, Narrow palate, Cleft palate, ... |
OMIM:605627 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... |
OMIM:616342 |
Hartsfield Syndrome |
|
Microphthalmia, Non-midline cleft lip, Cleft palate, Intrauterine growth retardation |
ORPHA:2117 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Cleft palate |
OMIM:257910 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria |
OMIM:614870 |
Walker-Warburg Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental... |
OMIM:610829 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Tetraploidy |
|
Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Short philtrum, Cleft palate |
ORPHA:3305 |
Trisomy 1Q |
|
Anal atresia, Anophthalmia, Cleft palate, Narrow mouth |
ORPHA:261344 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonatal death, Multinucleated ne... |
OMIM:236500 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Postnatal growth r... |
ORPHA:90321 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia, Long philtrum |
OMIM:615877 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia, Intrau... |
ORPHA:3412 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Macrocephaly |
OMIM:612138 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia |
OMIM:257100 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death |
OMIM:613730 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:611561 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Cerebellar hypoplasia |
OMIM:615228 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Intestinal malrotation, Cleft palate, Intrauterine growth retardation |
OMIM:603194 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia... |
ORPHA:2728 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... |
ORPHA:2538 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, High, narrow palate, Anophthalmia, Long philtrum |
ORPHA:1101 |
Holoprosencephaly |
|
Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, Deep philtrum, ... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hypoplasia of the corpus callosum, Cerebral atrophy |
OMIM:615918 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Death in adolescence |
OMIM:619751 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Neonatal death, Decreased te... |
ORPHA:85284 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Microphthalmia With Limb Anomalies |
|
Macrodontia, Short stature, Cleft upper lip, Cleft palate, Thin vermilion border, High palate, Lo... |
ORPHA:1106 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Cleft upper lip, Abnormal soft palate mor... |
ORPHA:138 |
14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Short stature |
ORPHA:264200 |
Meckel Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia... |
ORPHA:564 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Persistence of primary teeth, Supernumera... |
OMIM:300166 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia |
ORPHA:2526 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper lip, Bilateral mi... |
OMIM:219000 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil... |
ORPHA:141099 |
Fraser Syndrome |
|
Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cle... |
ORPHA:2052 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Intestinal malrotation, Cleft upper lip, ... |
OMIM:305600 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Crypt... |
OMIM:620024 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Stillbirth, Hypoplasia of the corpus callosum, Death in childhood, Neonatal dea... |
OMIM:614922 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Temporal lobe dysplasia, Gray matter heterotopia, Macrocephaly, Neonatal death |
OMIM:187600 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Growth delay, Abnormal rec... |
ORPHA:2556 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Cryptorchidism, Miscarriage, Death in infancy |
OMIM:613390 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,... |
OMIM:113620 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Cryptorchidism, Occipital encephalocele, Microcephaly |
OMIM:224410 |
Microcephaly-Micromelia Syndrome |
|
Microcephaly, Aqueductal stenosis, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus cal... |
OMIM:251230 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Charge Syndrome |
|
Anal stenosis, Anophthalmia, Cleft upper lip, Postnatal growth retardation, Esophageal atresia, T... |
OMIM:214800 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypoplasia of the pons, Polymicrogyria, Cerebellar hypoplasia, Neonatal death |
OMIM:615501 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Prolonged G2 phase of cell ... |
OMIM:227646 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... |
OMIM:618500 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Afibrinogenemia, Congenital |
|
Neonatal death, Death in infancy, Death in adolescence, Death in childhood |
OMIM:202400 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Cleft upper lip, Cleft palate, Wide mouth, Transverse facial cleft, Microphthalmia |
OMIM:164210 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cryptorchidism, Stillbirth, Lissencephaly, Cerebellar hypoplasia, Neonatal death, P... |
OMIM:256520 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |