Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia |
OMIM:600776 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... |
ORPHA:1104 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... |
OMIM:601357 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Facial cl... |
OMIM:607597 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Facial cleft, High palate, Widely spaced teeth, Solitary median maxillary central i... |
ORPHA:66625 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Facial cleft, Cleft palate |
OMIM:613456 |
Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft, Cleft palate |
ORPHA:3374 |
Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, U... |
ORPHA:63862 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Spina bifida, Long philtrum |
OMIM:211960 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af... |
ORPHA:1794 |
Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia |
ORPHA:1791 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth, Facial cleft, Toot... |
ORPHA:1786 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Caudal Duplication |
|
Omphalocele, Spina bifida, Myelomeningocele, Spinal cord lesion, Intestinal duplication |
ORPHA:1756 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,... |
OMIM:612938 |
Constricting Bands, Congenital |
|
Omphalocele, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Gastroschisis, Bladder e... |
OMIM:217100 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... |
OMIM:618106 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Facial cleft, Cleft palate, Cleft upper lip |
OMIM:239800 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Protruding tongue, Hydrocephalus, Gingival overgrowth, ... |
ORPHA:93400 |
Icf Syndrome |
|
Communicating hydrocephalus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia... |
ORPHA:63260 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:861 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft |
ORPHA:324416 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Oculocerebrocutaneous Syndrome |
|
Wide mouth, Hydrocephalus, Facial cleft, Orofacial cleft |
ORPHA:1647 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft, Cleft palate |
OMIM:603671 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned corners ... |
ORPHA:1327 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Spina bifida, Facial cleft, Cleft palate, High palate, Microphthalmia |
ORPHA:99776 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Micro... |
OMIM:603194 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
Isolated Klippel-Feil Syndrome |
|
Anal atresia, Ectopic anus, Spina bifida, Cleft palate |
ORPHA:2345 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... |
OMIM:618580 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate, Narrow mouth |
ORPHA:2528 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Microphthalmia |
ORPHA:268249 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ... |
ORPHA:96147 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Iniencephaly |
|
Omphalocele, Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial... |
ORPHA:63259 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate |
OMIM:616570 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Lip pit, Facial cleft, Hypodontia, Microphthalmia, Abnormal palate morphology |
ORPHA:1236 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum |
OMIM:617804 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Ring Chromosome 22 Syndrome |
|
Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Microphthalmia |
ORPHA:2117 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Hydranencephal... |
ORPHA:2839 |
Raine Syndrome |
|
Natal tooth, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wide mouth, Hig... |
OMIM:259775 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:613885 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Fountain Syndrome |
|
Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Everted lower lip vermi... |
ORPHA:3219 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Joubert Syndrome 1 |
|
Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate |
OMIM:164180 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia |
ORPHA:1135 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia... |
OMIM:613451 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li... |
OMIM:219000 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo... |
ORPHA:487825 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Spina bifi... |
ORPHA:2437 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Non-midline cleft lip, Meningocele, Anencephaly, Cleft palate, Spin... |
ORPHA:1908 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Facial cleft, Cleft palate |
ORPHA:306542 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth |
OMIM:608779 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... |
ORPHA:1393 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, High, narrow palate, High palate, Protruding tongue |
OMIM:214100 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... |
ORPHA:99843 |
Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:72 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephal... |
ORPHA:3412 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... |
OMIM:601349 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611134 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle... |
ORPHA:2189 |
Trisomy 20P |
|
Smooth philtrum, Inguinal hernia, Spina bifida, Abnormality of the dentition, Downturned corners ... |
ORPHA:261318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Macroglossia, Hydrocephalus |
OMIM:613155 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia |
OMIM:617062 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Pierpont Syndrome |
|
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... |
OMIM:602342 |
Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Facial cleft, Cleft palate, Oral sy... |
OMIM:263650 |
Sirenomelia |
|
Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia |
ORPHA:3169 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... |
OMIM:136760 |
3Mc Syndrome 3 |
|
Facial cleft, Cleft palate, Cleft upper lip |
OMIM:248340 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Facial cleft, Microphthalmia, Ethmocephaly, Median cleft lip and palate |
OMIM:236100 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... |
OMIM:619777 |
Diabetic Embryopathy |
|
Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Cleft palate, Spinal dysraphism |
ORPHA:1926 |
Trisomy 18 |
|
Omphalocele, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anencephaly, Narrow palate,... |
ORPHA:3380 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Anal atresia, Narrow mouth |
ORPHA:3469 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Hydrocephalus, Anteriorly place... |
OMIM:612289 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin... |
ORPHA:2092 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion |
ORPHA:1466 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Smooth philtrum |
OMIM:602501 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida |
ORPHA:99742 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Achondrogenesis, Type Ia |
|
Protruding tongue |
OMIM:200600 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... |
OMIM:147250 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Meningocele, Ab... |
ORPHA:3376 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Monosomy 18P |
|
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc... |
ORPHA:1598 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Microphthalmia, Short philtrum, Omphalocele |
ORPHA:93267 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia |
ORPHA:83628 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, Everted lower lip vermilion, High palate, Short... |
OMIM:613776 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum |
OMIM:193500 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia |
OMIM:614583 |
Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Degcags Syndrome |
|
Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, High palate, Thi... |
OMIM:619488 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, High palate, Cleft palate |
OMIM:616038 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... |
ORPHA:93929 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Thin vermilion border, Narrow mouth |
OMIM:600118 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum |
ORPHA:228390 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... |
OMIM:109400 |
Temtamy Syndrome |
|
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology |
ORPHA:1777 |
Fanconi Anemia, Complementation Group R |
|
Tethered cord, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atresia |
OMIM:617244 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus |
ORPHA:858 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Short philtr... |
OMIM:614424 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth |
OMIM:619694 |
Nail-Patella Syndrome |
|
Spina bifida, Microphakia, Cleft palate, Cleft upper lip |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Submucous cleft hard palate, Cleft palate, Thick vermi... |
ORPHA:2671 |
Cat-Eye Syndrome |
|
Microphthalmia, Anal atresia |
ORPHA:195 |
Frontorhiny |
|
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... |
ORPHA:391474 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... |
OMIM:612530 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Tethered cord, Bifid uvula, Spinal dysraphism |
OMIM:617660 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Microphthalmia |
ORPHA:85284 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Abnormal spinal cord mor... |
ORPHA:2369 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Cleft ... |
OMIM:619148 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia |
OMIM:602361 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Holoprosencephaly |
|
Omphalocele, Encephalocele, Median cleft lip, Anophthalmia, Bilateral cleft lip, Deep philtrum, H... |
ORPHA:2162 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Anal atresia |
OMIM:119580 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners... |
ORPHA:404440 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Microphthalmia |
ORPHA:370959 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum |
ORPHA:163966 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... |
ORPHA:77298 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Long philtrum |
OMIM:300887 |
Joubert Syndrome 18 |
|
Lobulated tongue, Occipital encephalocele, Cleft palate |
OMIM:614815 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Trisomy 8Q |
|
Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... |
ORPHA:1752 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Aganglionic megacolon, Intestinal malrotation, Abnormal dental enamel morphology... |
ORPHA:567 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Re... |
OMIM:600145 |
Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue |
ORPHA:98889 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:304050 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Thin vermilion border, Aganglionic megacolon, Long philtrum |
ORPHA:1438 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia |
OMIM:614105 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Inguinal hernia |
ORPHA:3191 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ... |
ORPHA:3378 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Neural tube defect, Macroglossia, High palate, Decreas... |
ORPHA:79321 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip... |
OMIM:610828 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Microphthalmia |
OMIM:214150 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete... |
OMIM:616300 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Nance-Horan Syndrome |
|
Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, Bifi... |
ORPHA:93271 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion |
OMIM:617883 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, High, narrow palate, Cleft palate, Anteriorly placed anus, Long philtru... |
OMIM:618494 |
Jacobsen Syndrome |
|
Smooth philtrum, Inguinal hernia, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnorma... |
ORPHA:2308 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short ph... |
OMIM:616449 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia |
OMIM:152950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... |
OMIM:613150 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum |
ORPHA:85194 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Tracheoesoph... |
ORPHA:84 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, High palate, Wid... |
ORPHA:369891 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate |
OMIM:619339 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Long philtrum, Microphthalmia |
ORPHA:508498 |
Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Microphthalmia, Smooth philtrum |
OMIM:618652 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microphthalmia |
ORPHA:163649 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Microphtha... |
OMIM:243310 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot... |
ORPHA:1915 |
Marden-Walker Syndrome |
|
Inguinal hernia, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Narrow mouth, ... |
OMIM:248700 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Glossoptosis, Meningocele |
ORPHA:2031 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Duodenal stenosis |
ORPHA:2547 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft,... |
ORPHA:2166 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Microphthalmia, An... |
OMIM:264480 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia |
OMIM:619318 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Long philtrum |
ORPHA:2211 |
Pagod Syndrome |
|
Omphalocele, Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Stevenson-Carey Syndrome |
|
Downturned corners of mouth, Microphthalmia, Pierre-Robin sequence, Narrow mouth |
OMIM:611961 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Exaggerated cupid's bow, Spina bifida, Thick vermilion border, Narrow mouth, Bifid... |
OMIM:619480 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele |
ORPHA:2481 |
Campomelic Dysplasia |
|
Irregular dentition, Spina bifida, Carious teeth, Hydrocephalus, Submucous cleft hard palate, Cle... |
OMIM:114290 |
Temtamy Syndrome |
|
Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth |
OMIM:218340 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ... |
OMIM:620098 |
Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... |
OMIM:601707 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow... |
ORPHA:435638 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Short umbili... |
OMIM:256520 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus |
OMIM:614219 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Inguinal hernia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
Moebius Syndrome |
|
Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition |
OMIM:157900 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3301 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M... |
ORPHA:251038 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum |
OMIM:616395 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, High palate, Orofacial cleft |
OMIM:618804 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Spina bifida, High, narrow palate, Talon cusp, Dental ... |
OMIM:180849 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip vermilion, Microphth... |
OMIM:616920 |
Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia |
OMIM:206920 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Dental malocclusion, Hypoplasia of teeth, Macrodontia... |
OMIM:257850 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Joubert Syndrome 37 |
|
Microphthalmia, High palate |
OMIM:619185 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum, Microphthalmia |
OMIM:618571 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate |
OMIM:619053 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia |
ORPHA:2728 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili... |
ORPHA:363958 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Hydrocephalus, High palate, Long philtrum, Microphthalmia, Ankyloglossia |
ORPHA:250989 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure... |
ORPHA:2250 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow m... |
OMIM:300895 |
Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental... |
OMIM:610829 |
Thrombocytopenia-Absent Radius Syndrome |
|
Syringomyelia, Meckel diverticulum, Spina bifida, Cleft palate |
OMIM:274000 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft ... |
ORPHA:564 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated... |
OMIM:252100 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Malabsorption, Gingival overgrowth, Spinal dysraphism, Aplasia/Hypoplasia ... |
ORPHA:175 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... |
OMIM:618874 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni... |
ORPHA:573278 |
8Q21.11 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ... |
ORPHA:284160 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wid... |
OMIM:243605 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cousin Syndrome |
|
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microphthalmia, Microglo... |
OMIM:260660 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula |
OMIM:241410 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Everted lower lip ve... |
ORPHA:65286 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate |
ORPHA:2311 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Myelo... |
OMIM:311200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft ... |
ORPHA:464738 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Syringomyelia |
ORPHA:531151 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Long philtrum, Narrow mouth |
OMIM:615663 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph... |
OMIM:236670 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Esophageal varix |
ORPHA:974 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Gingival bleeding |
ORPHA:335 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Spinal cord compression |
ORPHA:93346 |
Martsolf Syndrome 1 |
|
Inguinal hernia, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition |
OMIM:212720 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia |
OMIM:156610 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Bilateral microphthalm... |
ORPHA:2563 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Cleft palate, Narrow mouth |
OMIM:251230 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Mandibuloacral Dysplasia |
|
Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa... |
ORPHA:2457 |
Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Microphthalmia, Narrow palate |
OMIM:614222 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation, Orofacial cleft |
ORPHA:2328 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ... |
OMIM:614230 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, High palate |
OMIM:608091 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate,... |
ORPHA:90652 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hydrocephalus, Orofacial cleft, Um... |
ORPHA:77301 |
Mosaic Trisomy 1 |
|
Omphalocele, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wide mout... |
ORPHA:1692 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine... |
OMIM:272950 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Hydrocephalus, Bladder exstrophy, Anal... |
ORPHA:322 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Esophageal atresia, Tracheoesophageal fistu... |
OMIM:192350 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... |
OMIM:115470 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Occipital encephalocele, Int... |
OMIM:249000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Fraser Syndrome |
|
Omphalocele, Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelom... |
ORPHA:2052 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, High, narrow palate, Cleft palate, Glossoptosis, Syringomyelia |
ORPHA:436003 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Umbilical hernia, Everted lower lip ver... |
OMIM:613884 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border,... |
ORPHA:251014 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, High palate, High, narrow palate |
ORPHA:2789 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... |
ORPHA:568 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Curry-Jones Syndrome |
|
Microphthalmia, Intestinal malrotation |
ORPHA:1553 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Meningocele, High palate, Hepatic failure |
ORPHA:46059 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation, Cleft palate, Cleft upper lip |
OMIM:244300 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... |
OMIM:269860 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Optic disc hypoplasia, Aganglionic megacolon, Microphthalmia, Spina bifida occulta... |
OMIM:607323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
Micro Syndrome |
|
Microphthalmia, High palate, Short philtrum |
ORPHA:2510 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Gastros... |
ORPHA:989 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula |
OMIM:229400 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Velopharyngeal insufficiency, Submucou... |
OMIM:223370 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope... |
ORPHA:534 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microphtha... |
OMIM:146510 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Cleft palate, High palate, Umbilical hernia |
OMIM:130720 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Microphthalmia, Anal atresia |
OMIM:273395 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentitio... |
ORPHA:1507 |
Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilical hernia |
OMIM:304120 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Thin upper lip vermilion |
OMIM:619135 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Hypoplasia of teeth |
OMIM:234050 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Tented upper lip vermilion, Narrow mouth, Deep philtrum, Large placenta, Spinal dysr... |
ORPHA:96334 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Median cleft lip, Orofacial cleft, Holoprosencephaly, Microphthalmia |
ORPHA:3186 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Narrow mouth, High palate, Hiatus hernia |
OMIM:617729 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, High palate |
ORPHA:35173 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Syringomye... |
ORPHA:453499 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, ... |
OMIM:603457 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Short philtrum |
OMIM:610758 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal atresia |
ORPHA:1352 |
Microphthalmia With Limb Anomalies |
|
Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion border, High palate, Lo... |
ORPHA:1106 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia |
OMIM:201180 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Anophthalmia, Intestinal malrotation, Cl... |
OMIM:305600 |
Jacobsen Syndrome |
|
Pyloric stenosis, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia, U-Shaped ... |
OMIM:147791 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Triangular mouth, Intestinal obstruction, Malabsorption |
OMIM:601675 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Anal ... |
OMIM:614083 |
Atelis Syndrome 2 |
|
Diastema, Thick lower lip vermilion, Downturned corners of mouth, High palate, Microphthalmia |
OMIM:620185 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Wide mouth, Hypoplasia of the iris, High palate, Microphthalmia |
OMIM:251300 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... |
ORPHA:2538 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Meningocele, Gastroesophageal reflux |
ORPHA:397715 |
Au-Kline Syndrome |
|
Lipomyelomeningocele, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia... |
OMIM:616580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n... |
ORPHA:453504 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n... |
ORPHA:352665 |
Phocomelia, Schinzel Type |
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High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:2879 |
Arima Syndrome |
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Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Occipital meningocele, Hepatic steat... |
OMIM:243910 |
Holzgreve Syndrome |
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Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Robinow Syndrome, Autosomal Dominant 3 |
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Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma... |
OMIM:616894 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Glossoptosis, Cleft palate |
ORPHA:440354 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Anal atresia |
OMIM:309801 |
Spinocerebellar Ataxia 36 |
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Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Orofaciodigital Syndrome Type 2 |
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Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Microphthalmia |
OMIM:617306 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Hartnup Disease |
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Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Psoriasis 14, Pustular |
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Geographic tongue, Furrowed tongue |
OMIM:614204 |
Fryns Syndrome |
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Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upp... |
OMIM:229850 |
Bazex-Dupre-Christol Syndrome |
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Furrowed tongue |
OMIM:301845 |
Spinocerebellar Ataxia Type 36 |
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Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Mend Syndrome |
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Asymmetry of the mouth, Hydrocephalus, Cleft palate, High palate, Microphthalmia |
ORPHA:401973 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum |
OMIM:300534 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Familial Exudative Vitreoretinopathy |
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Microphthalmia |
ORPHA:891 |
Rothmund-Thomson Syndrome, Type 2 |
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Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Anteriorly placed anus, Agen... |
OMIM:268400 |
Acrodermatitis Enteropathica |
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Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele |
OMIM:616546 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Cleft palate, Colon cancer, Holoprosencephaly, Microphthalmia, Stomach canc... |
ORPHA:1052 |
Orofaciodigital Syndrome Type 6 |
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Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... |
ORPHA:2754 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Hypoplasia of the fovea, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Marshall-Smith Syndrome |
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Eclabion, Irregular dentition, Omphalocele, Optic nerve hypoplasia, Pyloric stenosis, Hydrocephal... |
OMIM:602535 |
Charcot-Marie-Tooth Disease Type 1F |
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Tongue atrophy, Cervical spinal cord atrophy, Optic nerve hypoplasia |
ORPHA:101085 |
Orofaciodigital Syndrome Type 1 |
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Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, High palate |
OMIM:110100 |
Aicardi Syndrome |
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Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum... |
ORPHA:50 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Microphthalmi... |
OMIM:617925 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia, High, narrow palate, Cleft palate |
ORPHA:2714 |
Hypomandibular Faciocranial Dysostosis |
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Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth |
ORPHA:1790 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microphthalmia, Smooth philtrum, ... |
OMIM:616975 |
Premature Aging Syndrome, Penttinen Type |
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Delayed eruption of teeth, Microphthalmia, Narrow philtrum, Thin vermilion border |
OMIM:601812 |
Cowden Syndrome 5 |
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Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Otospondylomegaepiphyseal Dysplasia |
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Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
X-Linked Agammaglobulinemia |
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Glossoptosis, Malabsorption |
ORPHA:47 |
Tarp Syndrome |
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Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth... |
OMIM:620186 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Supernumerary tooth, Submu... |
OMIM:300166 |
Yunis-Varon Syndrome |
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Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... |
ORPHA:818 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Robinow Syndrome, Autosomal Dominant 1 |
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Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... |
OMIM:180700 |
Cowden Syndrome 6 |
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Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:153400 |
Moebius Syndrome |
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Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... |
ORPHA:570 |
Robinow Syndrome, Autosomal Recessive 1 |
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Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ... |
OMIM:268310 |
Autosomal Dominant Robinow Syndrome |
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Inguinal hernia, Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the ... |
ORPHA:3107 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Holoprose... |
ORPHA:141099 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Congenital aphakia, Hydrocephalus, Cleft palate |
ORPHA:137675 |
Acro-Renal-Mandibular Syndrome |
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Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Robinow Syndrome |
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Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Holoprosencephaly 2 |
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Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ... |
OMIM:157170 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Buphthalmos, Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Warburg Micro Syndrome 2 |
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Microphthalmia |
OMIM:614225 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia, Delayed eruption of primary teeth |
OMIM:300952 |
Fraser Syndrome 2 |
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Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia |
OMIM:617666 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Median cleft lip, Anencephaly, Cleft palate, Severe hydrocephalus, Microphthalmia |
OMIM:236680 |
Monosomy 9P |
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Abnormality of the dentition, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum |
ORPHA:261112 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia |
OMIM:206900 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, ... |
OMIM:164210 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Microphthalmia |
OMIM:302960 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula |
OMIM:227646 |
Cockayne Syndrome B |
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Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop... |
OMIM:133540 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Short uvula, Submucous cleft hard palate, Lens coloboma, Downturned corn... |
OMIM:619539 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:100300 |
Cowden Syndrome 1 |
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Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Duodenal atresia |
OMIM:603467 |
Carey-Fineman-Ziter Syndrome 1 |
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Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia |
OMIM:254940 |
Spondyloepiphyseal Dysplasia Congenita |
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Spinal cord compression, Glossoptosis, Cleft palate |
ORPHA:94068 |
Myopathy, Myofibrillar, 7 |
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Tongue atrophy |
OMIM:617114 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, High palate, Bifid uvula, Dental malocclusion |
OMIM:601552 |
Charge Syndrome |
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Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Aquedu... |
ORPHA:138 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Odontoonychodermal Dysplasia |
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Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Rabson-Mendenhall Syndrome |
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Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Occipital encephalocele, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasi... |
OMIM:615948 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Hereditary Folate Malabsorption |
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Glossitis, Cheilitis |
ORPHA:90045 |
Catel-Manzke Syndrome |
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Inguinal hernia, Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate,... |
OMIM:616145 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Thin upper lip vermilion, Carious teeth, Cleft palate, Narrow mouth, Microdontia, Microphthalmia |
OMIM:616734 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Ramos-Arroyo Syndrome |
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Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum |
ORPHA:1051 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Inguinal hernia, Thin vermilion border, High palate, Microphthalmia, U-Shaped upper lip vermilion |
OMIM:609945 |
Pachyonychia Congenita 3 |
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Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, Narrow mouth, Smooth p... |
ORPHA:468631 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Trichothiodystrophy |
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Carious teeth, High, narrow palate, Bilateral microphthalmos, Umbilical hernia, Enamel hypoplasia |
ORPHA:33364 |
Renpenning Syndrome 1 |
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Thin upper lip vermilion, Macrodontia, Cleft palate, High palate, Short philtrum, Narrow mouth, M... |
OMIM:309500 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microdontia, Microphthalmia, Thick vermilion border, Smooth philtrum |
OMIM:620005 |
Myhre Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Narrow mouth, Microphthalmia |
OMIM:139210 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia |
OMIM:253280 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum |
ORPHA:2526 |
Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border, Widely spaced teeth, ... |
OMIM:612474 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Atrophy of the spinal cord, Hydrocephalus, Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rectum morphology, Micro... |
ORPHA:2556 |
Witteveen-Kolk Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Branchial fistula, High, narrow palate, Thick lower li... |
OMIM:613406 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor... |
OMIM:154500 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Roberts Syndrome |
|
Microphthalmia, High palate, Cleft palate, Cleft upper lip |
ORPHA:3103 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia, Aganglionic megacolon |
ORPHA:959 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... |
ORPHA:191 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1587 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis |
OMIM:267750 |
Pallister-Hall Syndrome |
|
Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate, Umbilical hernia,... |
ORPHA:672 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue |
OMIM:601559 |
Charge Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Cleft upper lip, Esophageal atresia, Tracheoesophageal ... |
OMIM:214800 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Inguinal hernia, Optic nerve hypoplasia, Bilateral micr... |
ORPHA:508488 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Microphthalmia, Enamel hypoplasia |
ORPHA:90324 |
Giant Cell Arteritis |
|
Glossitis |
ORPHA:397 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Marfan Syndrome |
|
High, narrow palate, Meningocele, Cleft palate |
ORPHA:558 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Atrophy of the spinal cord, Tongue atrophy |
ORPHA:466768 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower lip pit,... |
OMIM:113620 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... |
ORPHA:444077 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Bilateral microphthalmos, Persistence of primary teeth |
ORPHA:93325 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue |
ORPHA:1596 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Roberts-Sc Phocomelia Syndrome |
|
Cleft upper lip, Hydrocephalus, Frontal encephalocele, Cleft palate, High palate, Microphthalmia |
OMIM:268300 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:2152 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
Viss Syndrome |
|
Chronic gastritis, Inguinal hernia, Duodenitis, Intestinal malrotation, Cleft soft palate, Submuc... |
OMIM:619472 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Enamel hypoplasia |
OMIM:309000 |
Norrie Disease |
|
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Thin vermilion border, Microphthalmia |
ORPHA:649 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Microphthalmia, ... |
ORPHA:857 |
Kawasaki Disease |
|
Glossitis, Cheilitis |
ORPHA:2331 |
Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, High palate, Narrow palate |
OMIM:276820 |
Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
Plague |
|
Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis |
ORPHA:707 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |