Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Trigonocephaly, Hypertelorism, Deep philtrum, Lobar holoprosencephaly... |
OMIM:609637 |
Solitary Median Maxillary Central Incisor |
|
Cyclopia, Choanal atresia, Holoprosencephaly, Decreased response to growth hormone stimulation te... |
OMIM:147250 |
Holoprosencephaly 3 |
|
Cyclopia, Bifid uvula, Cleft lip, Malar flattening, Holoprosencephaly, Solitary median maxillary ... |
OMIM:142945 |
Microform Holoprosencephaly |
|
Cyclopia, Iris coloboma, Duodenal atresia, Short nose, Choanal atresia, Holoprosencephaly, Intrau... |
ORPHA:280200 |
Cerebrooculonasal Syndrome |
|
Solitary median maxillary central incisor, Optic nerve hypoplasia, Ventriculomegaly, Cleft palate... |
OMIM:605627 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Brushfield spots, Iris coloboma, Brachycephaly, Facial cleft, Bifid nasa... |
ORPHA:1791 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Bifid uvula, Median cleft lip and palate, Solitary median maxillary ce... |
OMIM:157170 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Hypopituitarism, Broad nasal tip, Midline defect of the nose, Brachycephaly, Midli... |
OMIM:603671 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... |
OMIM:611638 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Cyclopia, Absent nares, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Mandibular apla... |
ORPHA:990 |
Holoprosencephaly 7 |
|
Median cleft lip and palate, Unilateral cleft lip, Solitary median maxillary central incisor, Par... |
OMIM:610828 |
Proboscis Lateralis |
|
Choanal atresia, Optic nerve hypoplasia, Ventriculomegaly, Single naris, Iris coloboma, Microphth... |
ORPHA:141099 |
Unilateral Ocular Duplication |
|
Encephalocele, Iris coloboma, Midline facial cleft, Abnormal pupil morphology, Cleft palate, Doli... |
ORPHA:3374 |
Holoprosencephaly 14 |
|
Cyclopia, Partial agenesis of the corpus callosum, Hydrocephalus, Cleft lip, Aqueductal stenosis,... |
OMIM:619895 |
Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Iris coloboma, Spina bifida, Bilateral cleft lip and palate, Facial cl... |
ORPHA:1104 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Cataract, Broad nasal tip, Widely-spaced maxillary central incisors, Hypopla... |
OMIM:136760 |
16P13.11 Microdeletion Syndrome |
|
Cyclopia, Short nose, Exaggerated cupid's bow, Holoprosencephaly, Ventriculomegaly, Anteverted na... |
ORPHA:261236 |
Holoprosencephaly |
|
Tooth agenesis, Median cleft lip and palate, Choanal atresia, Hyposmia, Solitary median maxillary... |
ORPHA:2162 |
Acalvaria |
|
Calvarial skull defect, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Hypertelorism |
ORPHA:945 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal nasal bone morphology, ... |
ORPHA:141091 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Respiratory insufficiency, Lobar holoprosencephaly, Intrauterine... |
ORPHA:2117 |
Trisomy 18 |
|
Choanal atresia, Cleft palate, Narrow mouth, Narrow palate, Dolichocephaly, Esophageal atresia, I... |
ORPHA:3380 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Deeply set eye, Short nose, Lateral ventricle dilatation, Anteverted nares, Ventriculomegaly, Dow... |
OMIM:613443 |
Holoprosencephaly 13, X-Linked |
|
Median cleft palate, Colpocephaly, Cyclopia, Duodenal atresia, Submucous cleft hard palate, Semil... |
OMIM:301043 |
Hydrolethalus |
|
Retrognathia, Bifid uvula, Hydrocephalus, Anophthalmia, Deeply set eye, Unilateral cleft lip, Sub... |
ORPHA:2189 |
Holoprosencephaly 1 |
|
Cyclopia, Median cleft lip and palate, Facial cleft, Alobar holoprosencephaly, Microphthalmia, Pr... |
OMIM:236100 |
Triploidy |
|
Macroglossia, Cataract, Iris coloboma, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterin... |
ORPHA:3376 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Anal atresia, Hydrocephalus, Median cleft lip and palate, Holoprosenceph... |
OMIM:264480 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Hydrocephalus, Occipital encephalocele, Microphthalmia, Ventr... |
ORPHA:324416 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Hypotelorism, Ar... |
OMIM:218670 |
Holoprosencephaly 11 |
|
Cleft lip, Holoprosencephaly, Cleft palate, Hypotelorism, Proptosis, Agenesis of corpus callosum |
OMIM:614226 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cyclopia, Anal atresia, Absent nares, Hydrocephalus, Umbilical hernia, Holoprosenc... |
ORPHA:2166 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Holoprosencephaly, Cleft palate, Proptosis, Median cleft lip, Hypertelorism |
ORPHA:2165 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, High palate, Short nose, Microphthalmia, Lateral ventricle dilatation, Anteverted nares... |
OMIM:614105 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Broad nasal tip, Trigonocephaly, Widely spaced teeth, Ventriculomegaly, Cleft palate, Hypoteloris... |
OMIM:612530 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Microphthalmia, Lateral ventricle dilatation, Bulbous nose, Micrognathia, Cutis ma... |
OMIM:614219 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Microphthalmia, Neural tube defect, Anophthalmia, Facial cleft |
OMIM:600776 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, High palate, Brachycephaly, Alobar holoprosencephaly, Ventriculomegaly, Dolichocep... |
OMIM:615433 |
2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Microphthalmia, Cleft palate, Central apnea, Abnormality iris morphology, Abn... |
ORPHA:1617 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia, Ventriculomegaly, Cleft palate, Micrognathia, Ag... |
OMIM:616570 |
Lethal Osteosclerotic Bone Dysplasia |
|
Dyspnea, Retrognathia, Median cleft lip and palate, Short nose, Intrauterine growth retardation, ... |
ORPHA:1832 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft ala nasi, Dandy-Walker malformation, Microphthalmia, Cleft palate, A... |
OMIM:164180 |
Alobar Holoprosencephaly |
|
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... |
ORPHA:220386 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Mandibular prognathia, Intrauterine... |
ORPHA:1908 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, High palate, Tooth malposition, Brachycephaly, Furrowed tongue, Malar flattening, Midfa... |
ORPHA:1387 |
Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Retrognathia, Microphthalmia, Neonatal death, Cleft palate, Wide nasal bridge, M... |
OMIM:615524 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Brachyturricephaly, Choanal atresia, Optic nerve hypoplasia, Cleft pala... |
OMIM:607597 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Oligodontia, Lateral ventricle dilatation, Hypotelorism, Bulbous nose, Frontal bos... |
OMIM:618330 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Holoprosencephaly, Bilateral cleft lip, Bilateral cleft palate, Coloboma,... |
OMIM:601357 |
Craniosynostosis 6 |
|
Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Turricep... |
OMIM:616602 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip, Tessier number 4 facial cleft, Coloboma |
OMIM:600251 |
Band Heterotopia |
|
Plagiocephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agenesis of corpus ... |
OMIM:600348 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Bruising susceptibility, Hydrocephalus, Malar flattening, Deeply set eye, Intrauteri... |
OMIM:612940 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Short nose, Lateral ventricle dilatation, Cleft palate, Tented upper lip vermili... |
OMIM:615716 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Open mouth, Deeply set eye, Short nose, Pierre-Robin sequence, Intrauterine growth r... |
OMIM:613604 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, High palate, Ileus, Retrognathia, Hydrocephalus, Ventriculomegaly, High, narrow pal... |
OMIM:620156 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, High palate, Short nose, Death in infancy, Respiratory distress, H... |
OMIM:615042 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Short nose, Lobar holoprosencephaly, Submucous cleft hard palate, Ventriculomegaly... |
OMIM:614701 |
Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia,... |
OMIM:619452 |
Treacher-Collins Syndrome |
|
Tooth agenesis, Choanal atresia, Cleft palate, Narrow mouth, Rectovaginal fistula, Cleft upper li... |
ORPHA:861 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Facial cleft, Underdeveloped nasal alae, Microphthalmia, Cleft palate, Wide nasal ... |
OMIM:613456 |
Distal Deletion 13Q |
|
Encephalocele, Anal atresia, Iris coloboma, Holoprosencephaly, Anencephaly, Aplasia/Hypoplasia af... |
ORPHA:1590 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Trigonocephaly, Microphthalmia, Ventriculomegaly, Long philtrum, Hypertelorism, Thi... |
OMIM:614583 |
1Q41Q42 Microdeletion Syndrome |
|
Broad nasal tip, Deeply set eye, Underdeveloped nasal alae, Submucous cleft hard palate, Holopros... |
ORPHA:250999 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Cataract, Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation... |
OMIM:613153 |
Oculomaxillofacial Dysostosis |
|
Abnormality of the dentition, Underdeveloped nasal alae, Cleft palate, Abnormality of the nose, W... |
ORPHA:1794 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Erythema, Short nose, Lateral ventricle dilatation, Neonatal death... |
OMIM:610015 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Aglossia, Holoprosencephaly, Cleft palate, Wide nose, Mandibular aplasia, Narrow ... |
OMIM:202650 |
Pontocerebellar Hypoplasia, Type 13 |
|
High palate, Volvulus, Lateral ventricle dilatation, Anteverted nares, Macrodontia, Sleep apnea, ... |
OMIM:618606 |
Monosomy 18P |
|
Tooth malposition, Brachycephaly, Holoprosencephaly, Microphthalmia, Cleft palate, Downturned cor... |
ORPHA:1598 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, High palate, Prominent nasal bridge, Umbilical hernia, Short nose, Hypotelorism,... |
OMIM:613544 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Intrauterine growth retardation, Lateral ventricle dilatation, Cyanotic episode... |
ORPHA:284417 |
Cerebrooculonasal Syndrome |
|
High palate, Brachycephaly, Facial cleft, Widely spaced teeth, Solitary median maxillary central ... |
ORPHA:66625 |
Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Wide nose, Ventriculomegaly, Cleft palate, Hypotelorism, Microretrog... |
ORPHA:261344 |
Holoprosencephaly 9 |
|
Solitary median maxillary central incisor, Optic nerve hypoplasia, Cleft palate, Hypotelorism, Si... |
OMIM:610829 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Brachycephaly, Flat occiput, Optic nerve hypoplasia, Lateral ventricle dila... |
OMIM:618736 |
Alg2-Cdg |
|
Cataract, Wide nasal bridge, Iris coloboma, Lateral ventricle dilatation |
ORPHA:79326 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Iris coloboma, Hydrocephalus, Facial cleft, Microphthalmia, Chorioretinal colobom... |
ORPHA:268249 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, High palate, Optic disc hypoplasia, Deeply set eye, Lateral ventricle dilatation, ... |
ORPHA:420179 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Iris coloboma, Palmoplantar cutis laxa, Brachycephaly, Malar flattening, Deeply set eye, Mandibul... |
OMIM:268850 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Cloverleaf skull, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ven... |
ORPHA:93274 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Short nose, Occipital encephalocele, Microphthalmia, Cleft palate, Depressed nasal... |
OMIM:613885 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Iris coloboma, Hydrocephalus, Holoprosencephaly, Microphthalmia, Sclerocornea... |
ORPHA:77298 |
Oculocerebrocutaneous Syndrome |
|
Calvarial skull defect, Iris coloboma, Hydrocephalus, Facial cleft, Ventriculomegaly, Corneal opa... |
ORPHA:1647 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Anteriorly placed anus, Hydrocephalus, Submucous cleft hard palate, Intrauterine gro... |
OMIM:612863 |
Developmental And Epileptic Encephalopathy 87 |
|
High palate, Widely spaced teeth, Midface retrusion, U-Shaped upper lip vermilion, Hypotelorism, ... |
OMIM:618916 |
Chromosome 5P13 Duplication Syndrome |
|
Craniosynostosis, High palate, Brachycephaly, Astigmatism, Hypotelorism, Downturned corners of mo... |
OMIM:613174 |
Congenital Hydrocephalus |
|
Colpocephaly, Iris coloboma, Hydrocephalus, Ventriculomegaly, Bulbous nose, Frontal bossing, Macu... |
ORPHA:2185 |
Trisomy 13 |
|
Cataract, Calvarial skull defect, Abnormality of the dentition, Iris coloboma, Malar flattening, ... |
ORPHA:3378 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Hypertelorism, Facial cleft, Underdeveloped nasal alae, Hypoplasia of the frontal bone,... |
ORPHA:306542 |
Non-Distal Duplication 13Q |
|
High palate, Abnormality of the dentition, Trigonocephaly, Short nose, Everted lower lip vermilio... |
ORPHA:1702 |
Mosaic Trisomy 9 |
|
Biparietal narrowing, High palate, Spina bifida, Facial cleft, Intrauterine growth retardation, M... |
ORPHA:99776 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia |
OMIM:616428 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Micrognathia, Cleft palate, Respiratory distress, Upper airway obs... |
ORPHA:141152 |
Distal Monosomy 7Q36 |
|
Abnormal calvaria morphology, Holoprosencephaly, Cleft palate, Non-midline cleft lip, Micrognathi... |
ORPHA:1636 |
6P22 Microdeletion Syndrome |
|
Hypotelorism, Abnormal palate morphology, Deeply set eye, Hydrocephalus |
ORPHA:251046 |
Walker-Warburg Syndrome |
|
Cataract, Iris coloboma, Bifid uvula, Hydrocephalus, Dandy-Walker malformation, Submucous cleft h... |
ORPHA:899 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Malar flattening, Deeply set eye, Mandibular prognathia, Anteverted... |
OMIM:618672 |
Martsolf Syndrome 2 |
|
Cataract, Broad nasal tip, Developmental cataract, Lateral ventricle dilatation |
OMIM:619420 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Hypoxemia, Holoprosencephaly, Intrauterine growth retardation, Semilobar holoprosenc... |
ORPHA:556955 |
Tonne-Kalscheuer Syndrome |
|
Blue irides, Prominent nasal bridge, Malar flattening, Widely spaced teeth, Micrognathia, Hypotel... |
OMIM:300978 |
Alkuraya-Kucinskas Syndrome |
|
Cataract, Plagiocephaly, High palate, Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nar... |
OMIM:617822 |
Lambotte Syndrome |
|
Retrognathia, Ocular anterior segment dysgenesis, Intrauterine growth retardation, Semilobar holo... |
OMIM:245552 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Microphthalmi... |
OMIM:616171 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Trigonocephaly, Lambdoidal craniosynostosis, Hypotelorism, Convex nasal ridge, Wide ... |
OMIM:314320 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Cyclopia, Iris coloboma, Holoprosencephaly, Microphthalmia, Hypotelorism, Median cleft lip, Orofa... |
ORPHA:3186 |
Prader-Willi Syndrome Due To Translocation |
|
Triangular-shaped open mouth, Broad nasal tip, Bifid uvula, Cleft palate, Hypotelorism, Carious t... |
ORPHA:177907 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation, Micrognathia |
OMIM:618266 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Abnormal calvaria morphology, Respiratory insufficiency, Microphthalmia, Cor... |
ORPHA:2432 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Neonatal respiratory distress, Bifid uvula, Deep philtrum, Mandibular prognathia, Death in infanc... |
OMIM:618622 |
Frontonasal Dysplasia 2 |
|
Widely spaced teeth, Parietal foramina, Tessier number 13 facial cleft, Depressed nasal tip, Calv... |
OMIM:613451 |
Alg13-Cdg |
|
Hypertelorism, Abnormal lateral ventricle morphology, Long philtrum, Anteverted nares |
ORPHA:324422 |
Pierpont Syndrome |
|
Brachycephaly, Malar flattening, Excessive wrinkling of palmar skin, Wide nasal ridge, Deeply set... |
ORPHA:487825 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, High palate, Brachycephaly, Deeply set eye, Mild fetal ventriculomegaly, Narrow pa... |
OMIM:619435 |
Bainbridge-Ropers Syndrome |
|
Broad nasal tip, Trigonocephaly, Scaphocephaly, Malar flattening, Short nose, Intrauterine growth... |
OMIM:615485 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Deeply set eye, Holoprosencephaly, Intrauterine growth retardation, Micrognathia |
ORPHA:2570 |
Chromosome 13Q14 Deletion Syndrome |
|
High palate, Iris coloboma, Umbilical hernia, Deep philtrum, Holoprosencephaly, Microphthalmia, E... |
OMIM:613884 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Intrauterine growth retardation |
OMIM:306990 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Midface retrusion... |
OMIM:618291 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Microphthalmia, Hypotelorism, Narrow mouth, Abnormal nostril morphology |
ORPHA:3469 |
Frontoocular Syndrome |
|
Coronal craniosynostosis, High palate, Prominent nasal bridge, Trigonocephaly, Hypotelorism, Narr... |
OMIM:605321 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Multiple suture craniosynostosis, High palate, Trigonocephaly, Broad secondary alveolar ridge, Hy... |
ORPHA:3369 |
Endocrine-Cerebroosteodysplasia |
|
Median cleft palate, Depressed nasal tip, Hydrocephalus, Deeply set eye, Holoprosencephaly, Ventr... |
OMIM:612651 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Jacobsen Syndrome |
|
Iris coloboma, Pyloric stenosis, Hydrocephalus, Trigonocephaly, Flat occiput, Short nose, Holopro... |
OMIM:147791 |
49,Xxxxy Syndrome |
|
Brachycephaly, Mandibular prognathia, Holoprosencephaly, Taurodontia, Abnormal dental enamel morp... |
ORPHA:96264 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, High palate, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Agene... |
ORPHA:139471 |
Perching Syndrome |
|
Cyanosis, Depressed nasal bridge, Respiratory distress, High palate |
OMIM:617055 |
Warburg Micro Syndrome 1 |
|
Deeply set eye, Enlarged sylvian cistern, Anteverted nares, Microphthalmia, Narrow mouth, Thin ve... |
OMIM:600118 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Eclabion, Pyloric stenosis, Trigonocephaly, Intrauterine growth retardation, Microphtha... |
OMIM:616395 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Facial cleft, Bifid nose, Cleft palate, Narrow mouth, Micrognathia, Cleft upper ... |
OMIM:239800 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Plagiocephaly, Open mouth, Prominent nasal bridge, Umbilical hernia, Tracheobronchomalacia, Intra... |
OMIM:617751 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Cleft palate, Peters anomaly, Iris coloboma, Hydrocephalus, Jejunal atres... |
OMIM:243605 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Open mouth, Lateral ventricle dilatation |
OMIM:616816 |
Distal Deletion 10Q |
|
Craniosynostosis, Anal atresia, High palate, Brachycephaly, Prominent nasal bridge, Astigmatism, ... |
ORPHA:96148 |
Joubert Syndrome 3 |
|
Open mouth, Neonatal breathing dysregulation, Lateral ventricle dilatation, Anteverted nares, Epi... |
OMIM:608629 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Retrognathia, Hypertelorism, Mandibular prognathia, Exaggerated ... |
ORPHA:464738 |
2Q23.1 Microduplication Syndrome |
|
Abnormality of the dentition, Astigmatism, Midface retrusion, Dental crowding, Hypotelorism, Thin... |
ORPHA:313947 |
Halperin-Birk Syndrome |
|
Death in childhood, Colpocephaly, High palate, Aspiration, Umbilical hernia, Intrauterine growth ... |
OMIM:618651 |
Cranioectodermal Dysplasia |
|
Craniosynostosis, Abnormality of the dentition, Taurodontia, Microdontia, Anteverted nares, Promi... |
ORPHA:1515 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microphthalmia, Coloboma |
OMIM:274270 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Brachycephaly, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Decre... |
OMIM:220210 |
Trigonocephaly 1 |
|
Craniosynostosis, Trigonocephaly, Short nose, High, narrow palate, Hypotelorism, Long philtrum, W... |
OMIM:190440 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, High palate, Retrognathia, Brachycephaly, Microphthalmia, Narrow mouth, Microcornea |
ORPHA:2528 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Long philtrum, Brachycephaly, Lateral ventricle dilatation |
OMIM:619972 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Cataract, Hydrocephalus, Megalocornea, Occipital encephalocele, Decreased thalamic ... |
ORPHA:370959 |
Paganini-Miozzo Syndrome |
|
Malar flattening, Deeply set eye, Mandibular prognathia, Lateral ventricle dilatation, Downturned... |
OMIM:301025 |
Intellectual Disability And Myopathy Syndrome |
|
Broad nasal tip, Sleep apnea, Hypotelorism, Dental malocclusion, Incisor macrodontia, Cutis marmo... |
OMIM:619719 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Wide nose, Depressed nasa... |
ORPHA:488635 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
High palate, Ventriculomegaly, Hypotelorism, Wide nasal bridge, Depressed nasal bridge |
OMIM:615760 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Retrognathia, Umbilical hernia, Mandibular prognathia, Microphthalmia, Lateral ven... |
OMIM:618914 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Long nose, Broad nasal tip, High palate, Brachycephaly, Low insertion of columella, Lateral ventr... |
OMIM:619995 |
Trisomy 18P |
|
Pyloric stenosis, Underdeveloped nasal alae, Intrauterine growth retardation, Midface retrusion, ... |
ORPHA:1715 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Respiratory insufficiency, Death in infancy, Lateral ventricle dilatation |
OMIM:617668 |
Joubert Syndrome 14 |
|
Encephalocele, Open mouth, Prominent nasal bridge, Hydrocephalus, Meningocele, Deeply set eye, Ma... |
OMIM:614424 |
Keppen-Lubinsky Syndrome |
|
High palate, Open mouth, Abnormally large globe, Respiratory insufficiency, Underdeveloped nasal ... |
OMIM:614098 |
Biemond Syndrome Type 2 |
|
Coloboma, Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Cofs Syndrome |
|
Cataract, Abnormal nasal morphology, Death in infancy, Intrauterine growth retardation, Microphth... |
ORPHA:1466 |
Temtamy Syndrome |
|
Ectopia lentis, Iris coloboma, Hypoplasia of teeth, Lens luxation, Microphthalmia, Ventriculomega... |
OMIM:218340 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Lateral ventricle dilatation |
ORPHA:77299 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hypotelorism, Downturned corners of mouth, Smooth philtrum, Wide nasal bridge, Short philtrum, Cl... |
OMIM:613192 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Cloverleaf skull, Platybasia, Microphthalmia, Downturned corners of mouth, Wide nasal b... |
ORPHA:93267 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Pierre-Robin sequence, Intrauterine growth retardation, Lateral ventricle dilatation... |
OMIM:611209 |
Acrofacial Dysostosis, Catania Type |
|
Abnormality of the dentition, Tooth agenesis, Abnormal palate morphology, Short nose, Intrauterin... |
ORPHA:1786 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Prominent nasal bridge, Ventriculomegaly, Hypotelorism, Downturned corners of mouth, Thick vermil... |
OMIM:618974 |
Pierpont Syndrome |
|
Broad nasal tip, Brachycephaly, Malar flattening, Deeply set eye, Short nose, Widely spaced teeth... |
OMIM:602342 |
Meckel Syndrome 14 |
|
Retrognathia, Occipital encephalocele, Holoprosencephaly, Cardiorespiratory arrest, Microphthalmi... |
OMIM:619879 |
Premature Aging Syndrome, Penttinen Type |
|
Shallow orbits, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Thi... |
OMIM:601812 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Unilateral cleft lip, Malar flattening, Flat occiput, Mandibular prognathia, Abnor... |
ORPHA:2511 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Iris coloboma, Trigonocephaly, Short nose, Microphthalmia, Ventriculomegaly, Anteve... |
OMIM:243310 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Intrauterine growth retardation |
OMIM:619033 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Conical tooth, Calvarial skull defect, Coronal craniosynostosis, Abnormality of th... |
ORPHA:228390 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Brachycephaly, Partial agenesis of the corpus callosum, Deeply set eye, Astigmatis... |
OMIM:617296 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Lateral ventricle dilatation, Apnea, Subependymal cysts, Micrognathia, Frontal bossing, Inspirato... |
OMIM:600721 |
Glutathionuria |
|
Hypotelorism, Asthma, Agenesis of corpus callosum |
OMIM:231950 |
Pde4D Haploinsufficiency Syndrome |
|
Brachycephaly, Hypertelorism, Malar flattening, Short nose, Mandibular prognathia, Intrauterine g... |
ORPHA:439822 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Underdeveloped nasal alae, Hypotelorism, Smooth philtrum, Wide nasal brid... |
OMIM:611091 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cataract, Anal atresia, Abnormality of the dentition, Brachycephaly, Bifid uvula, Astigmatism, Ch... |
OMIM:300968 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
Tetrasomy 5P |
|
High palate, Pulmonary arterial hypertension, Hydrocephalus, Short nose, Wide anterior fontanel, ... |
ORPHA:3309 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Oligodontia, Dorsocervical fat pad, Hypoplasia of teeth, Short nose, Intrauterine growth retardat... |
ORPHA:391408 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, High palate, Pyloric stenosis, Astigmatism, Short nose, Submucous cleft hard palat... |
ORPHA:457279 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Everted lower lip vermilion, Tented upper lip vermilion, Long philt... |
OMIM:620075 |
Short Stature-Micrognathia Syndrome |
|
Cataract, High palate, Retrognathia, Astigmatism, Intrauterine growth retardation, Cleft palate, ... |
OMIM:617164 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Lateral ventricle dilatation, Dilated fourth ventricle, Micrognathia, Recurrent upper... |
ORPHA:3078 |
Auriculocondylar Syndrome 2 |
|
Snoring, Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crowding,... |
OMIM:614669 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Tongue fasciculations, Intercostal muscle weakness, Lateral ventricle ... |
OMIM:607596 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Fr... |
ORPHA:1528 |
Supernumerary Nostril |
|
Choanal atresia, Abnormality of ethmoid sinus, Developmental cataract, Supernumerary naris, Micro... |
ORPHA:141096 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Death in childhood, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tented... |
OMIM:619517 |
Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Hypotelorism, Wide nasal bridge |
ORPHA:3366 |
Muscle-Eye-Brain Disease |
|
Meningocele, Cataract, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:614019 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Hydrocephalus, Respiratory insufficiency due to muscle weakness... |
OMIM:615249 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Abnormality of the dentition, Deeply set eye, Hypotelorism, Microret... |
ORPHA:276422 |
Hartsfield Syndrome |
|
Craniosynostosis, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly,... |
OMIM:615465 |
Hadziselimovic Syndrome |
|
Anal atresia, High palate, Prominent nasal bridge, Anteverted nares, U-Shaped upper lip vermilion... |
OMIM:612946 |
Bresek Syndrome |
|
Plagiocephaly, Iris coloboma, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Neo... |
ORPHA:85284 |
Vici Syndrome |
|
Cataract, Depressed nasal tip, High palate, Death in infancy, Hypotelorism, Agenesis of corpus ca... |
ORPHA:1493 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Microphthalmia, Ventriculomegaly, Smooth philtrum, Cutis marmorata, Depressed nasa... |
OMIM:602501 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Prominent nasal bridge, Anteverted nares, Everted lower lip vermilion, Abnormal ... |
ORPHA:411986 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Colpocephaly, Plagiocephaly, High palate, Hydrocephalus, Short nose, Deep philtrum, Int... |
OMIM:619833 |
Amyotrophy, Hereditary Neuralgic |
|
Deeply set eye, Cleft palate, Hypotelorism, Narrow mouth, Depressed nasal bridge, Long nasal bridge |
OMIM:162100 |
Coach Syndrome 2 |
|
Hydrocephalus, Chorioretinal coloboma, Coloboma, Agenesis of corpus callosum, Apneic episodes in ... |
OMIM:619111 |
Isolated Exencephaly |
|
Abnormal calvaria morphology, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone... |
ORPHA:563612 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Cloverleaf skull, Bifid uvula, Choanal atresia, Ventriculomegaly, Narrow mouth, Narrow palate, Pa... |
OMIM:123790 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Intrauterine growth retar... |
ORPHA:79243 |
Fraser Syndrome 1 |
|
Difficulty in tongue movements, Cleft palate, Cleft upper lip, Facial cleft, Calvarial skull defe... |
OMIM:219000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Duodenal atresia, Colon cancer, Intestinal polyposis, Holoprosencephaly, Intrauterine g... |
ORPHA:1052 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Depressed nasal tip, Retrognathia, Lateral ventricle dilatation, Thick nasal alae, Smooth philtru... |
ORPHA:293725 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Abnormal palate morphology, Brachycephaly, Iris coloboma, Facial cleft, Mandibular prognathia, Mi... |
ORPHA:1236 |
Aicardi Syndrome |
|
Cataract, Choroid plexus cyst, Partial agenesis of the corpus callosum, Spina bifida, Hiatus hern... |
OMIM:304050 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal calvaria morphology, Intrauterine growth retardation, Wide nose, Prominent occiput, Resp... |
ORPHA:89844 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Brachycephaly, Lateral ventricle dilatation, Tented upper lip vermilion, Long philtr... |
OMIM:619244 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Brachycephaly, Umbilical hernia, Intrauterine growth retardation, Hypotelorism, Narrow ... |
OMIM:219150 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Trigonocephaly, Short nose, Deep philtrum, Respiratory distress, Hypotelorism, Denta... |
ORPHA:329178 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Craniosynostosis, Retrognathia, Bilateral microphthalmos, Prominent nasal bridge, Duodenal atresi... |
ORPHA:468631 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Deeply set eye, Intrauterine growth retardation, Hypotelorism, Smooth philtrum, Micrognathia, Bul... |
OMIM:614104 |
Monosomy 13Q14 |
|
Cataract, Iris coloboma, Prominent nasal bridge, Trigonocephaly, Holoprosencephaly, Intrauterine ... |
ORPHA:1587 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Cloverleaf skull, Tooth agenesis, Anteriorly placed anus, Hydrocephalus, Malar ... |
ORPHA:1555 |
Mosaic Trisomy 1 |
|
Short upper lip, Microphthalmia, Lateral ventricle dilatation, Cleft palate, Microretrognathia, W... |
ORPHA:1692 |
X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Mandibular prognathia, Lateral ventricle dilatation, Thick vermilion border, Wide ... |
ORPHA:85290 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Tachypnea, Meningocele, Occipital encephalocele, Lateral ventricle dilatation, Vent... |
ORPHA:397715 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Lobar holoprosencephaly, Intrauterine growth retardation, Semilobar holoprosencephal... |
OMIM:618500 |
16P11.2P12.2 Microdeletion Syndrome |
|
Long nose, Open mouth, Deeply set eye, Short nose, Intrauterine growth retardation, Absent nasal ... |
ORPHA:261211 |
Ring Chromosome 7 Syndrome |
|
Median cleft palate, Plagiocephaly, Brachycephaly, Prominent nasal bridge, Bifid uvula, Malar fla... |
ORPHA:1449 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia, Cleft palate, Chorioretinal coloboma, Cleft upper lip |
OMIM:120433 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
Trichothiodystrophy |
|
Keratoconjunctivitis sicca, Ventriculomegaly, Hypotelorism, Carious teeth, Bronchospasm, Hypoplas... |
ORPHA:33364 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Smith-Lemli-Opitz Syndrome |
|
Biparietal narrowing, Tooth agenesis, Choanal atresia, Ventriculomegaly, Cleft palate, Supernumer... |
ORPHA:818 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Open mouth, High palate, Lateral ventricle dilatation, Long philtrum, Thin upper lip vermilion |
OMIM:617854 |
Otodental Syndrome |
|
Abnormal dental pulp morphology, Periodontitis, Odontoma, Carious teeth, Iris coloboma, Microphth... |
ORPHA:2791 |
Temtamy Syndrome |
|
Abnormal palate morphology, Iris coloboma, Microphthalmia, Dolichocephaly, Chorioretinal coloboma... |
ORPHA:1777 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Meckel Syndrome |
|
Encephalocele, Cataract, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Lobar holoprosencephaly... |
ORPHA:564 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Prominent nasal bridge, Astigmatism, Micrognathia, Ventriculomegaly, Midface retrusion, Narrow mo... |
OMIM:618659 |
Cach Syndrome |
|
Cataract, T2 hypointense thalamus, Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:135 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Death in childhood, Cataract, Prominent nasal bridge, Deeply set eye, Microphthalmia, Ventriculom... |
OMIM:214150 |
15Q24 Microdeletion Syndrome |
|
Anal atresia, Abnormality of the dentition, Wide nasal base, Prominent nasal bridge, Abnormal pal... |
ORPHA:94065 |
Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Anteverted nares, Long phi... |
OMIM:166750 |
Holoprosencephaly 4 |
|
Depressed nasal tip, Median cleft lip and palate, Semilobar holoprosencephaly, Absent nasal septa... |
OMIM:142946 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Duodenal atresia, Cleft lip, Hypertelorism, Deeply set eye, Choanal atresia, Intraut... |
OMIM:616975 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cataract, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Microphthal... |
OMIM:253800 |
Oculodentodigital Dysplasia |
|
Tooth agenesis, Cleft palate, Hypotelorism, Carious teeth, Broad alveolar ridges, Short nose, Nar... |
ORPHA:2710 |
Pallister-Hall Syndrome |
|
Anal atresia, Anteriorly placed anus, Short nose, Choanal atresia, Holoprosencephaly, Intrauterin... |
OMIM:146510 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Microphthalmia, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis |
OMIM:610023 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventriculomegaly, Cleft palate, Hypotelorism, Smooth philtrum, Pulmonary arterial hypertension, L... |
OMIM:618454 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Dyspnea, Prominent nasal bridge, Cleft palate, Midface retrusion, Hypotelorism, Pr... |
ORPHA:2215 |
Steinfeld Syndrome |
|
Iris coloboma, Bifid uvula, Median cleft lip and palate, Holoprosencephaly, Microphthalmia, Retin... |
OMIM:184705 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Ventriculomegaly, Cleft palate, Hypotelorism, Smooth philtrum, Lobulated... |
OMIM:249000 |
Verheij Syndrome |
|
Broad nasal tip, Retrognathia, Short nose, Intrauterine growth retardation, Optic nerve hypoplasi... |
OMIM:615583 |
Harrod Syndrome |
|
Cataract, Long nose, High palate, Intrauterine growth retardation, Hypotelorism, Dental malocclus... |
ORPHA:2115 |
Baller-Gerold Syndrome |
|
Anal atresia, High palate, Brachycephaly, Prominent nasal bridge, Anteriorly placed anus, Malabso... |
ORPHA:1225 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, High palate, Brachycephaly, Short nose, Wide anterior fontanel, Microphthalmia, Antever... |
ORPHA:163649 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, High palate, Brachycephaly, Partial agenesis of the corpus callosum, Hydrocephalus... |
OMIM:619512 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, High palate, Partial agenesis of the corpus callosum, Flat occiput, Lateral ventri... |
ORPHA:300570 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Anal atresia, Hydrocephalus, Megalocornea, Occipital encephalocele, Dandy-Walker malfor... |
OMIM:236670 |
Cog5-Cdg |
|
High palate, Retrognathia, Intrauterine growth retardation, Lateral ventricle dilatation, Prematu... |
ORPHA:263487 |
Craniosynostosis 2 |
|
Craniosynostosis, Bicoronal synostosis, Cleft soft palate, Brachycephaly, Trigonocephaly, Unicoro... |
OMIM:604757 |
Microphthalmia With Limb Anomalies |
|
High palate, Retrognathia, Short nose, Deep philtrum, Flared nostrils, Microphthalmia, Cleft pala... |
OMIM:206920 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Plagiocephaly, Brachycephaly, Holoprosencephaly, Hypotelorism |
ORPHA:2163 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Deeply set eye, Celiac disease, Lateral ventricle dilatation, Dysplastic corpus cal... |
ORPHA:544488 |
Pfeiffer Syndrome Type 2 |
|
Cloverleaf skull, Anal atresia, High palate, Intestinal malrotation, Tracheomalacia, Hydrocephalu... |
ORPHA:93259 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Bul... |
OMIM:618779 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Isolated Arrhinia |
|
Midline defect of the nose, Hypoplasia of the nasal bone, Facial cleft, Underdeveloped nasal alae... |
ORPHA:1134 |
Schilbach-Rott Syndrome |
|
Long nose, Bifid uvula, Submucous cleft hard palate, Hypotelorism, Narrow mouth, Micrognathia, Pr... |
OMIM:164220 |
Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:300573 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in childhood, Cataract, Retrognathia, Partial agenesis of the corpus callosu... |
OMIM:614643 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Craniosynostosis, Duodenal atresia, Deeply set eye, Short nose, Intrauterine growth retardation, ... |
OMIM:614114 |
Weyers Acrofacial Dysostosis |
|
Conical tooth, Hypotelorism, Solitary median maxillary central incisor |
OMIM:193530 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Oligodontia, Intrauterine growth retardation, Hypotelorism, Narrow mouth, Downturned corners of m... |
OMIM:616817 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Trigonocephaly, Choanal atresia, Brachycephaly, Irregular dentition, Microphthalmia, Delayed erup... |
OMIM:619148 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Short nose, Death in infancy, Intrauterine growth retardation, Microphthalmia, Mic... |
ORPHA:163966 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Median cleft lip and palate, Respiratory insufficiency, Holoprosencephaly, Intraut... |
OMIM:269860 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Solitary median maxillary central incisor, Cleft palate, Hypotelorism, Micrognathia,... |
OMIM:602418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Long nose, Deeply set eye, Mandibular prognathia, Ventriculomegaly, Hypotelorism, Short philtrum,... |
OMIM:300486 |
Marbach-Schaaf Neurodevelopmental Syndrome |
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Plagiocephaly, Broad nasal tip, Astigmatism, Submucous cleft hard palate, Hypotelorism, Downturne... |
OMIM:619680 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Colpocephaly, Wide nasal bridge, Neonatal death |
OMIM:614870 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hydrocephalus, Anterior polar cataract, Lateral ventricle dilatation, High, narrow palate, Depres... |
OMIM:619575 |
Phosphoserine Aminotransferase Deficiency |
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Cyanotic episode, Death in infancy, Apnea |
OMIM:610992 |
Neuralgic Amyotrophy |
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Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate |
ORPHA:2901 |
Kohlschutter-Tonz Syndrome-Like |
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Brachycephaly, Death in adolescence, Widely spaced teeth, Amelogenesis imperfecta, Intrauterine g... |
OMIM:619229 |
Frontofacionasal Dysplasia |
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Cataract, Midline defect of the nose, Iris coloboma, Brachycephaly, Bifid uvula, Hypertelorism, M... |
OMIM:229400 |
Ring Chromosome 21 Syndrome |
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Holoprosencephaly, Cutaneous photosensitivity |
ORPHA:1445 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
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Hypotelorism, High palate |
OMIM:616281 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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High palate, Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly, Wid... |
ORPHA:572798 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Cyanosis, Inspiratory stridor... |
OMIM:207950 |
Cockayne Syndrome Type 2 |
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Widely spaced primary teeth, Anodontia, Mandibular prognathia, Intrauterine growth retardation, E... |
ORPHA:90322 |
Cerebrooculofacioskeletal Syndrome 2 |
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Death in childhood, Cataract, Deeply set eye, Intrauterine growth retardation, Microphthalmia, Co... |
OMIM:610756 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Hypotelorism, Abnormal calvaria morphology |
ORPHA:1952 |
Microphthalmia, Syndromic 5 |
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Cataract, Microphthalmia, Optic nerve hypoplasia, Cleft palate, Ectopic posterior pituitary, Anop... |
OMIM:610125 |
Galloway-Mowat Syndrome |
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Abnormality of the dentition, Hiatus hernia, Aqueductal stenosis, Intrauterine growth retardation... |
ORPHA:2065 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly, Plagiocephaly, Tooth agenesis, Midface retrusion, Anteverted nares, Macrodontia, Do... |
OMIM:618731 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
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Deeply set eye, Intrauterine growth retardation, Respiratory distress, Thin vermilion border, Wid... |
ORPHA:261304 |
Abruzzo-Erickson Syndrome |
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Abnormal palate morphology, Iris coloboma, Malar flattening, Cleft palate, Chorioretinal coloboma... |
ORPHA:921 |
Frontorhiny |
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Encephalocele, Hypopituitarism, Cataract, Iris coloboma, Hypoplastic frontal sinuses, Microphthal... |
ORPHA:391474 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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High palate, Underdeveloped nasal alae, Midface retrusion, Hypotelorism, Wide mouth, Micrognathia... |
OMIM:300986 |
Vacterl With Hydrocephalus |
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Esophageal atresia, Anal atresia, Retrognathia, Spina bifida, Hydrocephalus, Tracheoesophageal fi... |
ORPHA:3412 |
Vici Syndrome |
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Median cleft palate, Cataract, High palate, Developmental cataract, Cleft palate, Wide nose, Hypo... |
OMIM:242840 |
Sandestig-Stefanova Syndrome |
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High palate, Retrognathia, Trigonocephaly, Intrauterine growth retardation, Microphthalmia, Ventr... |
OMIM:618804 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Frontal bossing, Downturned corners of mouth, Hypotelorism |
OMIM:618718 |
Orofaciodigital Syndrome Type 5 |
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Cleft soft palate, Abnormality of the philtrum, Bifid uvula, Enamel hypoplasia, Aganglionic megac... |
ORPHA:2919 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Hypertelorism, Microphthalmia, Conjunctival hyperemia, Dolichocephaly, Wide nasal bridge, Depress... |
OMIM:167730 |
Noonan Syndrome 14 |
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Prominent nasal bridge, Bruising susceptibility, Lateral ventricle dilatation, High, narrow palat... |
OMIM:619745 |
Acrocallosal Syndrome |
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Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermilion border, Smooth... |
OMIM:200990 |
Robinow Syndrome, Autosomal Dominant 2 |
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Oligodontia, Calvarial osteosclerosis, Cleft palate, Short nose, Proptosis, Triangular mouth, Thi... |
OMIM:616331 |
Orofaciodigital Syndrome Xix |
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Cleft soft palate, High palate, Retrognathia, Bifid nasal tip, Underdeveloped nasal alae, Tongue ... |
OMIM:620107 |
Acrofacial Dysostosis, Weyers Type |
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Conical tooth, Abnormality of the dentition, Solitary median maxillary central incisor, Advanced ... |
ORPHA:952 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Cataract, Cleft lip, Astigmatism, Short nose, Deep philtrum, Microphthalmia, Cleft palate, Micror... |
OMIM:618571 |
Branchio-Oculo-Facial Syndrome |
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Cataract, Broad nasal tip, High palate, Tooth agenesis, Iris coloboma, Premature graying of hair,... |
ORPHA:1297 |
Trichothiodystrophy 8, Nonphotosensitive |
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Retrognathia, Hypotelorism, Long philtrum, Prominent nose, Thin upper lip vermilion |
OMIM:619691 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Ventriculomegaly, Microphthalmia, Hydrocephalus |
OMIM:614830 |
Genitourinary And/Or Brain Malformation Syndrome |
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Colpocephaly, Ileal atresia, Jejunal atresia, Short nose, Astigmatism, Holoprosencephaly, Microgn... |
OMIM:618820 |
Microphthalmia, Isolated 4 |
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Microphthalmia, Coloboma |
OMIM:613094 |
Joubert Syndrome 16 |
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Encephalocele, Hypertelorism, Dandy-Walker malformation, Coloboma |
OMIM:614465 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Cataract, Tooth malposition, Iris coloboma, Absent nares, Bifid uvula, Submucous cleft hard palat... |
ORPHA:2250 |
Cataract 9, Multiple Types |
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Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Cat-Eye Syndrome |
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Anal atresia, Iris coloboma, Intrauterine growth retardation, Microphthalmia, Chorioretinal colob... |
ORPHA:195 |
Hallermann-Streiff Syndrome |
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Platybasia, Selective tooth agenesis, Parietal bossing, Narrow mouth, Narrow palate, Dolichocepha... |
OMIM:234100 |
Joubert Syndrome 23 |
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Tachypnea, Coloboma, Apnea, Dysplastic corpus callosum |
OMIM:616490 |
Joubert Syndrome 15 |
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Exencephaly, Coloboma |
OMIM:614464 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Abnormal palate morphology, Mandibular prognathia, Hypotelorism, Narrow nasal bridge, Micrognathi... |
ORPHA:3082 |
Restrictive Dermopathy 2 |
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Intrauterine growth retardation, Rectal prolapse, Respiratory distress, Microretrognathia, Propto... |
OMIM:619793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Posterior synechiae of the anterio... |
OMIM:613154 |
Seizures, Benign Familial Infantile, 3 |
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Cyanosis, Apnea |
OMIM:607745 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Pulmonary arterial hypertension, Short nose, Microphthalmia, Long philtrum, Agenesis of corpus ca... |
OMIM:300887 |
Charge Syndrome |
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Abnormal soft palate morphology, Choanal atresia, Cleft palate, Narrow mouth, Anosmia, Cleft uppe... |
ORPHA:138 |
Lig4 Syndrome |
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Chronic sinusitis, Brachycephaly, Astigmatism, Telangiectasia, Hypotelorism, Wide nasal bridge, P... |
OMIM:606593 |
Congenital Toxoplasmosis |
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Jaundice, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Ventriculomegaly |
ORPHA:858 |
Congenital Disorder Of Glycosylation, Type Iy |
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Deeply set eye, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth |
OMIM:300934 |
Tetraamelia-Multiple Malformations Syndrome |
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Cataract, Anal atresia, Iris coloboma, Hydrocephalus, Aplasia/Hypoplasia involving the nose, Sept... |
ORPHA:3301 |
Congenital Myopathy 10A, Severe Variant |
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High palate, Restrictive ventilatory defect, Respiratory insufficiency, Cleft palate, Respiratory... |
OMIM:614399 |
Microphthalmia With Linear Skin Defects Syndrome |
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Erythema, Retrognathia, Dyspnea, Hydrocephalus, Abnormality of the anus, Abnormal dental enamel m... |
ORPHA:2556 |
Seizures, Benign Familial Infantile, 1 |
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Cyanosis, Apnea |
OMIM:601764 |
Bartsocas-Papas Syndrome 1 |
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Anal atresia, Corneal ulceration, Facial cleft, Short nose, Underdeveloped nasal alae, Intrauteri... |
OMIM:263650 |
Giacheti Syndrome |
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Hypotelorism |
OMIM:612917 |
Koolen-De Vries Syndrome |
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Cataract, High palate, Open mouth, Iris hypopigmentation, Prominent nasal bridge, Pyloric stenosi... |
OMIM:610443 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cataract, High palate, Pulmonary arterial hypertension, Retrognathia, Microphthalmia, Cleft palat... |
OMIM:616449 |
Amish Lethal Microcephaly |
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Spina bifida, Death in infancy, Ventriculomegaly, Micrognathia, Cleft soft palate, Agenesis of co... |
ORPHA:99742 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Plagiocephaly, High palate, Flat occiput, Short nose, Ventriculomegaly, Anteverted nares, Tented ... |
OMIM:619383 |
Acrootoocular Syndrome |
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Grayish enamel, Wide nasal base, Anodontia, Decreased response to growth hormone stimulation test... |
ORPHA:2980 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Neonatal respiratory distress, Hypotelorism, High palate, Microphthalmia |
OMIM:619053 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Cataract, Bilateral cleft lip and palate, Iris coloboma, Microphthalmia, Chorioretinal coloboma, ... |
ORPHA:1473 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalm... |
ORPHA:1135 |
Scalp-Ear-Nipple Syndrome |
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Cataract, Calvarial skull defect, Iris coloboma, Bifid uvula, Agenesis of permanent teeth, Mandib... |
OMIM:181270 |
Neurooculocardiogenitourinary Syndrome |
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Prominent nasal bridge, Microphthalmia, Downturned corners of mouth, Smooth philtrum, Coloboma, P... |
OMIM:618652 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Lateral ventricle dilatation |
OMIM:221770 |
Bilateral Generalized Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:208447 |
Chromosome 15Q11.2 Deletion Syndrome |
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Plagiocephaly, Irregular dentition, Cleft palate, Hypotelorism, Narrow nose, Smooth philtrum, Mic... |
OMIM:615656 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Macroglossia, Developmental cataract, Microphthalmia, Hydrocephalus |
OMIM:613155 |
Bullous Dystrophy, Hereditary Macular Type |
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Death in childhood, Acrocyanosis |
OMIM:302000 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Cataract, Retinal coloboma, Microphthalmia, Hydrocephalus |
OMIM:601794 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Retrognathia, Deeply set eye, Coloboma, Anteverted nares, Sleep apnea, Long philtrum, Thin vermil... |
ORPHA:464288 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
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Microphthalmia |
OMIM:616335 |
Iniencephaly |
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Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Spina bifida, Myelomeningocele,... |
ORPHA:63259 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Macroglossia, Plagiocephaly, Open mouth, Brachycephaly, Hypertelorism, Everted lower lip vermilio... |
OMIM:616789 |
Smith-Lemli-Opitz Syndrome |
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Bifid uvula, Cleft palate, Severe photosensitivity, Microglossia, Broad alveolar ridges, Hydrocep... |
OMIM:270400 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Brachycephaly, Malar flattening, Underdeveloped nasal alae, Micrognathia, Ve... |
ORPHA:264200 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Cataract, Malar prominence, Intrauterine growth retardation, Microphthalmia, Ventriculomegaly, Mi... |
ORPHA:48431 |
Helsmoortel-Van Der Aa Syndrome |
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Broad nasal tip, Oligodontia, Ankyloglossia, Widely spaced teeth, Ventriculomegaly, Thin vermilio... |
OMIM:615873 |
Microphthalmia, Syndromic 8 |
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Mandibular prognathia, Microphthalmia, Cleft palate, Premature skin wrinkling, Microcornea, Cleft... |
OMIM:601349 |
Abruzzo-Erickson Syndrome |
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Cleft palate, Coloboma |
OMIM:302905 |
Braddock Syndrome |
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Neonatal respiratory distress, Pulmonary arterial hypertension, Intrauterine growth retardation, ... |
ORPHA:52047 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Retrognathia, Deeply set eye, Short nose, Choanal atresia, Intrauterine growth retardation, Semil... |
OMIM:301044 |
Stevenson-Carey Syndrome |
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Brachycephaly, Underdeveloped nasal alae, Microphthalmia, Anteverted nares, Central hypoventilati... |
OMIM:611961 |
Oculofaciocardiodental Syndrome |
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Cataract, Oligodontia, Abnormality of the dentition, Tooth malposition, Prominent nasal bridge, I... |
ORPHA:2712 |
Coloboma Of Macula With Type B Brachydactyly |
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Coloboma |
OMIM:120400 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Saethre-Chotzen Syndrome |
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Craniosynostosis, Plagiocephaly, Prominent nasal bridge, Brachycephaly, Cleft palate, Sleep apnea... |
ORPHA:794 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Cataract, Long nose, Broad nasal tip, Tooth malposition, Prominent nasal bridge, Deeply set eye, ... |
OMIM:616541 |
Congenital Disorder Of Glycosylation, Type Iif |
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Flat occiput, Deeply set eye, Hypotelorism, Short philtrum, Subcutaneous hemorrhage |
OMIM:603585 |
Robinow Syndrome, Autosomal Recessive 2 |
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Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Short nose, Anteverted nares, M... |
OMIM:618529 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Cataract, Depressed nasal tip, Bilateral microphthalmos, Microphthalmia, Wide nose, Conjunctival ... |
ORPHA:2399 |
Pfeiffer Syndrome Type 3 |
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Anal atresia, High palate, Intestinal malrotation, Tracheomalacia, Brachyturricephaly, Short nose... |
ORPHA:93260 |
Curry-Jones Syndrome |
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Craniosynostosis, Iris coloboma, Microphthalmia, Ventriculomegaly, Optic disc coloboma, Intestina... |
ORPHA:1553 |
Microphthalmia, Syndromic 3 |
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Cataract, Esophageal atresia, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Hypoth... |
OMIM:206900 |
1Q21.1 Microdeletion Syndrome |
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Cataract, High palate, Iris coloboma, Hydrocephalus, Ankyloglossia, Deeply set eye, Intrauterine ... |
ORPHA:250989 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Encephalocele, Macroglossia, Cataract, Hydrocephalus, Death in infancy, Microphthalmia, Buphthalm... |
OMIM:613150 |
Autosomal Dominant Keratitis |
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Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
Orofaciodigital Syndrome Xiv |
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Lobulated tongue, Anteriorly placed anus, Partial agenesis of the corpus callosum, Cleft lip, Tri... |
OMIM:615948 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Hyposmia, Cleft palate, Hypotelorism, Anosmia, Cleft upper lip |
OMIM:244200 |
Pseudo-Torch Syndrome 2 |
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Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ven... |
OMIM:617397 |
Joubert Syndrome 2 |
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Encephalocele, High palate, Hydrocephalus, Neonatal breathing dysregulation, Microphthalmia, Epis... |
OMIM:608091 |
Muscular Hypertonia, Lethal |
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Respiratory distress, Umbilical hernia, Death in infancy, Pneumonia |
OMIM:254120 |
Slc35A2-Cdg |
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Craniosynostosis, Intrauterine growth retardation, Lateral ventricle dilatation, Elevated circula... |
ORPHA:356961 |
Marden-Walker Syndrome |
|
High palate, Pyloric stenosis, Wide anterior fontanel, Intrauterine growth retardation, Microphth... |
OMIM:248700 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Congenital Disorder Of Glycosylation, Type Iq |
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Cataract, Brachycephaly, Microphthalmia, Coloboma, Depressed nasal bridge, Hypertelorism |
OMIM:612379 |
Gabriele-De Vries Syndrome |
|
High palate, Broad nasal tip, Abnormality of the dentition, Malar flattening, Intrauterine growth... |
OMIM:617557 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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High palate, Malar flattening, Widely spaced teeth, Death in infancy, Microdontia, Lateral ventri... |
OMIM:300868 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Neonatal respiratory distress, Tracheomalacia, Anteriorly placed anus, Short nose, Wide anterior ... |
OMIM:217980 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Neonatal respiratory distress, High palate, Malar flattening, Deeply set eye, Hypotelorism, Narro... |
OMIM:602471 |
Wiedemann-Rautenstrauch Syndrome |
|
Parietal bossing, Hypotelorism, Narrow mouth, Thin vermilion border, Smooth philtrum, Brachycepha... |
OMIM:264090 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Deeply set eye, Microphthalmia, Smooth philtrum, Micrognathia, Cleft soft pal... |
OMIM:614526 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Hydrocephalus, Aqueductal... |
ORPHA:1136 |
Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Anal atresia, Agenesis of corpus callosum, Coloboma |
OMIM:617695 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Iris coloboma, Hydrocephalus, Communicating hydrocephalus, Ventriculomegaly, Chorio... |
OMIM:615219 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Megalocornea, Umbilical hernia, Mandibular prognathia, Corneal dystrophy, High, na... |
ORPHA:1101 |
White-Kernohan Syndrome |
|
Retrognathia, Anteriorly placed anus, Short nose, Underdeveloped nasal alae, Midface retrusion, A... |
OMIM:619426 |
Moebius Syndrome |
|
High palate, Depressed nasal bridge, Abnormality of the dentition, Bifid uvula, Microphthalmia, R... |
OMIM:157900 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypotelorism |
OMIM:619091 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Agenesis of permanent teeth, Cleft palate, Narrow mouth, Abnormality of upper lip vermillion, Sho... |
ORPHA:251028 |
Lissencephaly 8 |
|
Cataract, Occipital encephalocele, Microphthalmia, Ventriculomegaly |
OMIM:617255 |
Weaver Syndrome |
|
Retrognathia, Umbilical hernia, Flat occiput, Mandibular prognathia, Lateral ventricle dilatation... |
OMIM:277590 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea |
OMIM:300915 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Cleft palate, Microglossia, Short nose, Intrauterine growth retardation, Microphthal... |
ORPHA:364577 |
Bohring-Opitz Syndrome |
|
Retrognathia, Cleft lip, Trigonocephaly, Hypertelorism, Intrauterine growth retardation, Microgna... |
ORPHA:97297 |
Cockayne Syndrome Type 1 |
|
Cataract, Abnormality of the dentition, Widely spaced primary teeth, Anodontia, Deeply set eye, M... |
ORPHA:90321 |
Diaphanospondylodysostosis |
|
Cleft palate, Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Degcags Syndrome |
|
Ventriculomegaly, Hypotelorism, Intestinal atresia, Smooth philtrum, Pulmonary arterial hypertens... |
OMIM:619488 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Plagiocephaly, High palate, Open mouth, Ocular anterior segment dysgenesis, Brachyc... |
ORPHA:369891 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia, Long philtrum, Thin vermi... |
ORPHA:1438 |
Fryns Syndrome |
|
Ventriculomegaly, Cleft palate, Microphthalmia, Non-midline cleft lip, Wide nasal bridge, Anal at... |
ORPHA:2059 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Respiratory insufficiency due to muscle weakness, Respiratory distress, Micrognath... |
ORPHA:1143 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lateral ventricle dilatation, Sclerocornea, Agenesis of corpus callosum, Delayed ... |
OMIM:300952 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microphthalmia, Shallow orbits, Micrognathia, Frontal bossing, Iris transillumination d... |
OMIM:617306 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Tachypnea, Restrictive ventilatory defect, Abnormal breath sound, ... |
ORPHA:2257 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Dyspnea, Retrognathia, Brachycephaly, Abnormal lip morphology, Flat occiput, Microdontia, High, n... |
ORPHA:2707 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bifid uvula, Widely spaced teeth, Hypotelorism, Thin vermilion border, Smooth philtrum, Turriceph... |
OMIM:612474 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Partial agenesis of the corpus callosum, Dilated fourth ventricle |
OMIM:615771 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Narrow mouth, Thin vermilion border, Brachycephaly, Microphthalmia... |
OMIM:257850 |
Congenital Disorder Of Glycosylation, Type Ie |
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Flat occiput, High, narrow palate, Telangiectasia, Respiratory distress, Smooth philtrum, Microgn... |
OMIM:608799 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Anal atresia, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Low hanging columella |
OMIM:619318 |
Osteopetrosis, Autosomal Recessive 7 |
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Death in childhood, Hydrocephalus, Death in infancy, Lateral ventricle dilatation, Recurrent pneu... |
OMIM:612301 |
Mmep Syndrome |
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Median cleft lip, Orofacial cleft, Mandibular prognathia, Microphthalmia |
ORPHA:3434 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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High palate, Increased circulating prolactin concentration, Hypotelorism, Micrognathia, Abnormali... |
ORPHA:502423 |
Pallister-Hall Syndrome |
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Hypopituitarism, Bifid uvula, Trigonocephaly, Choanal atresia, Cleft palate, Microglossia, Adreno... |
ORPHA:672 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Cataract, Astigmatism, Widely spaced teeth, Microdontia, Microphthalmia, Anteverted nares, Wide n... |
OMIM:619694 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Bifid uvula, Deeply set eye, Severe intrauterine growth retardation, Decreased response to growth... |
OMIM:241410 |
Gaucher Disease, Perinatal Lethal |
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Open mouth, Retrognathia, Short nose, Intrauterine growth retardation, Neonatal death, Ventriculo... |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Neonatal respiratory distress, Short lingual frenulum, Widely spaced teeth, Small pituitary gland... |
OMIM:619479 |
Focal Dermal Hypoplasia |
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Broad nasal tip, Oligodontia, Cleft palate, Cleft upper lip, Ectopia lentis, Iris coloboma, Hydro... |
OMIM:305600 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
2Q31.1 Microdeletion Syndrome |
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Iris coloboma, Trigonocephaly, Deep philtrum, Microphthalmia, Ventriculomegaly, Cleft palate, Eve... |
ORPHA:251014 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Death in childhood, Respiratory failure, Lateral ventricle dilatation |
OMIM:619847 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Respiratory insufficiency, Tongue fasciculations, Respiratory distress |
ORPHA:238329 |
Apert Syndrome |
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Cloverleaf skull, Bifid uvula, Brachyturricephaly, Choanal atresia, Ventriculomegaly, Cleft palat... |
ORPHA:87 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Hydrocephalus, Short nose, Intrauterine growth retardation, Microphthalmia, Depressed nasal ridge... |
OMIM:300863 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Retrognathia, Cleft lip, Deeply set eye, Deep philtrum, Microphthalmia, Midface retrusion, Cleft ... |
OMIM:620098 |
Glutaric Acidemia I |
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Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Cataract, Broad nasal tip, Flat occiput, Deep philtrum, Mandibular prognathia, Astigmatism, Micro... |
OMIM:152950 |
Coffin-Siris Syndrome 1 |
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Broad nasal tip, Choanal atresia, Cleft palate, Hypotelorism, Duodenal ulcer, Thick lower lip ver... |
OMIM:135900 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Bifid uvula, Cleft upper lip, Brachycephaly, Hydrocephalus, Malar flattening, Wide anterior fonta... |
OMIM:607872 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Intestinal malrotation, Abnormal nasal morphology, Brachycephaly, Bifid uvula, Deep philtrum, Mic... |
ORPHA:404440 |
Stuve-Wiedemann Syndrome 2 |
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Pulmonary arterial hypertension, Death in adolescence, Intrauterine growth retardation, Neonatal ... |
OMIM:619751 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Lobulated tongue, Anal atresia, Cleft lip, Respiratory insufficiency, Incomplete c... |
OMIM:616300 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Intrauterine growth retardation, Microphthalmia, Anenc... |
OMIM:611134 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Craniosynostosis, Broad nasal tip, High palate, Oligodontia, Brachycephaly, Trigonocephaly, Deepl... |
OMIM:309590 |
Microphthalmia, Isolated, With Coloboma 7 |
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Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
Warburg Micro Syndrome 3 |
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Cataract, Brachycephaly, Short nose, Microphthalmia, Ventriculomegaly, Shallow anterior chamber, ... |
OMIM:614222 |
Heart And Brain Malformation Syndrome |
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Cleft lip, Wide anterior fontanel, Microphthalmia, Anteverted nares, Prominent occiput, High, nar... |
OMIM:616920 |
Joubert Syndrome 21 |
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Encephalocele, Chronic sinusitis, Dyspnea, Occipital encephalocele, Apnea, Respiratory failure, S... |
OMIM:615636 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Hypotelorism |
ORPHA:477673 |
Immunodeficiency 95 |
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Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Recurrent viral upper respi... |
OMIM:619773 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance |
OMIM:619466 |
Odontochondrodysplasia |
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Retrognathia, Short nose, Death in infancy, Respiratory distress, Delayed eruption of teeth, Fron... |
ORPHA:166272 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis, Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum |
ORPHA:488627 |
Developmental And Epileptic Encephalopathy 30 |
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Respiratory distress, Death in infancy |
OMIM:616341 |
Fraser Syndrome |
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Bifid tongue, Cleft upper lip, Anal stenosis, Calvarial skull defect, Microphthalmia, Midline nas... |
ORPHA:2052 |
Arachnoid Cyst |
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Encephalocele, Mydriasis, Hydrocephalus, Holoprosencephaly, Abnormal occipital bone morphology, E... |
ORPHA:2356 |
Fanconi Anemia, Complementation Group D2 |
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Esophageal atresia, Bruising susceptibility, Hydrocephalus, Microphthalmia, Hypotelorism, Tracheo... |
OMIM:227646 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Cyanosis, Central apnea |
ORPHA:71277 |
Curry-Jones Syndrome |
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Bicoronal synostosis, Iris coloboma, Microphthalmia, Lipomyelomeningocele, Occipital meningocele,... |
OMIM:601707 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Cataract, Retrognathia, Brachycephaly, Bifid uvula, Flat occiput, Facial hyperostosis, Submucous ... |
ORPHA:2780 |
Postsynaptic Congenital Myasthenic Syndromes |
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High palate, Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosi... |
ORPHA:98913 |
Microphthalmia With Limb Anomalies |
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High palate, Hydrocephalus, Death in infancy, Microphthalmia, Cleft palate, Macrodontia, Long phi... |
ORPHA:1106 |
Central Neurocytoma |
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Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Combined Oxidative Phosphorylation Defect Type 39 |
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