Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Narrow palpebral fissure, Agenesis of corpus callosum, Telecanthus, Stillbirth, ... |
OMIM:300073 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Bicoronal synostosis, Ptosis, Brachycephaly, Hypoplasia ... |
OMIM:618736 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Cerebel... |
ORPHA:1528 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Telecanthus, Cerebellar vermis hypoplasia, Hydrocephalus, Turricephaly, Midface re... |
ORPHA:1532 |
Meckel Syndrome, Type 10 |
|
Narrow palpebral fissure, Anencephaly, Ptosis, Epicanthus, Frontal bossing |
OMIM:614175 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Optic nerve hypoplasia, Craniosynostosis, Absent septum pellucidum, Cerebellar h... |
OMIM:218670 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly |
ORPHA:2835 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Plagiocephaly, Ptosis, Brachycephaly, Craniosynostosis, Abnormal corpu... |
OMIM:616602 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Anteverted nares, Wide nose, Hypoplasia of the zygomatic bone, Frontal bossing |
ORPHA:3074 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... |
ORPHA:46 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Craniosynostosis, Prominent nasal bridge, Basal ganglia calcification, Hypoplasia of the maxilla,... |
OMIM:608432 |
Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Unilateral polymicrogyria, Hypoplasia of the zygomatic bone, Prominent nasal bridge... |
ORPHA:319171 |
Dysostosis, Stanescu Type |
|
Carious teeth, Convex nasal ridge, Midface retrusion, Brachycephaly, Hypoplasia of the zygomatic ... |
ORPHA:1798 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Neonatal death, Stillbirth, Narrow nasal ridge, Hypoplasia of the brainstem, Bul... |
OMIM:236500 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2570 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Cerebral calc... |
ORPHA:3145 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Sparse lateral eyebrow, Telecanthus, Downslanted palpebral fissures, Epicanthus, W... |
OMIM:601224 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Prominent metopic ridge, Brachycephaly |
OMIM:275595 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Epicanthus, Microcephaly, Brachycephaly |
ORPHA:2528 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly |
ORPHA:2898 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Toluene Embryopathy |
|
Micrognathia, Short nose, Hypoplasia of the zygomatic bone, Biparietal narrowing, Microcephaly |
ORPHA:1920 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Microcephaly, Death in childhood |
OMIM:302000 |
Anencephaly 2 |
|
Anencephaly, Short palpebral fissure |
OMIM:619452 |
Isolated Exencephaly |
|
Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Aplasia/Hypoplasia of th... |
ORPHA:563612 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Bilateral ptosis, Downslanted palpebral fissures, Hypoplasia of the corpus callosu... |
OMIM:618859 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Micrognathia, Hydrocephalus, Anencephaly |
OMIM:614120 |
Cebalid Syndrome |
|
Plagiocephaly, Highly arched eyebrow, Polyphagia, Brachycephaly, Platystencephaly, Downslanted pa... |
OMIM:618774 |
Frontal Encephalocele |
|
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D... |
ORPHA:1931 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Ptosis, Holoprosencephaly, Upslanted palpebral fissure, Colpocephaly,... |
OMIM:618820 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Dandy-Walker malformation, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hydranencephaly, Hypoplasia of the brainstem, Hydrocepha... |
OMIM:225790 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth |
ORPHA:2972 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Micrognathia, Anencephaly, Mandibular prognathia, Holoprosencephaly, Wide nasal brid... |
ORPHA:1908 |
Marshall Syndrome |
|
Micrognathia, Depressed nasal bridge, Thickened calvaria, Hypoplastic frontal sinuses, Brachyceph... |
ORPHA:560 |
Cleidocranial Dysplasia |
|
Carious teeth, Sinusitis, Micrognathia, Depressed nasal bridge, Large fontanelles, Brachycephaly,... |
ORPHA:1452 |
Myopathy, Congenital, Bailey-Bloch |
|
Ptosis, Brachycephaly, Telecanthus, Downslanted palpebral fissures, Short palpebral fissure, Midf... |
OMIM:255995 |
Non-Distal Trisomy 10Q |
|
Brachycephaly, Downslanted palpebral fissures, Frontal bossing, Blepharophimosis, Microcephaly |
ORPHA:1695 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Mental Retardation, Autosomal Dominant 26 |
|
Highly arched eyebrow, Ptosis, Brachycephaly, Downslanted palpebral fissures, Short palpebral fis... |
OMIM:615834 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Short nose, Hypoplasia of the zygomatic bone, Abnormal dental enamel morp... |
ORPHA:1812 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Ptosis, Brachycephaly, Epicanthus, Alobar holoprosencephaly, Dolichocephaly, Agene... |
OMIM:615433 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Convex nasal ridge, Mandibular prognathia, Hypoplasia of the zygomatic bone, Promi... |
ORPHA:1110 |
Craniodigital-Intellectual Disability Syndrome |
|
Thick eyebrow, Spina bifida occulta, Long eyelashes, Brachycephaly |
ORPHA:1514 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Depressed nasal bridge, Cloverleaf skull, Hypoplasia of the zygomatic bone, Malar flattening, Cra... |
ORPHA:1555 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Antley-Bixler Syndrome |
|
Brachycephaly, Short nose, Hypoplasia of the zygomatic bone, Craniosynostosis, Frontal bossing, T... |
ORPHA:83 |
Mental Retardation, Autosomal Dominant 29 |
|
Synophrys, Downslanted palpebral fissures, Brachycephaly, Ptosis |
OMIM:616078 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Multifocal cerebral white matter abnormalities, Brachycephaly, Epicanthus, Horizontal eyebrow, Ce... |
ORPHA:352530 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Long eyelashes, Unilambdoid synostosis, Hydrocephalus, Midface retr... |
OMIM:618577 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Subcortical band heterotopia, Midface retrusion, Pachygyria, Progressive microcephaly, Bulbous no... |
OMIM:618737 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Large fontanelles, Mandibular prognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge, Um... |
ORPHA:1778 |
Isolated Brachycephaly |
|
Midface retrusion, Brachycephaly |
ORPHA:35099 |
X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Branchial anomaly, Microc... |
ORPHA:1131 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Narrow palpebral fissure, Brachycephaly, Optic nerve hypoplasia, Telecanth... |
OMIM:618828 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Short nose, Hypoplasia of the zygomatic bone, Spina bifida occulta, Microretrognat... |
ORPHA:1786 |
Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, Hypoplasia of the pons, Long palpebral fissure, Hypoplasia of the brainstem, Progr... |
OMIM:608027 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Ptosis, Brachycephaly, Long eyelashes, Downslanted palpebral fissures, Cut... |
OMIM:300590 |
Hydrolethalus |
|
Micrognathia, Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Retrognathia... |
ORPHA:2189 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Hydrocephalus,... |
OMIM:218350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hy... |
OMIM:615287 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Turricephaly, Wide nasal bridge |
ORPHA:710 |
Crouzon Disease |
|
Ptosis, Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Cerebellar hypoplasia, Midfa... |
ORPHA:207 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Brachycephaly, Holoprosencephaly, Epicanthus, Agenesis of corpus callosum, Microcephaly |
OMIM:610680 |
Acalvaria |
|
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Calvarial s... |
ORPHA:945 |
Schisis Association |
|
Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Supernumerary tooth, Craniosynostosis, Sagittal craniosynostosis, ... |
OMIM:614188 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Microcephaly, Brachycephaly |
ORPHA:93950 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Brachycephaly, Malar flattening, Frontal bossing, Aplasia/Hypoplasia of the c... |
ORPHA:93262 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Holoprosencephaly, Upslanted palpebral fissure, Craniosynostosis, E... |
ORPHA:2163 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short nose, Anosmia, Hypoplasia of the zygomatic bone, Abnormality of the nares |
ORPHA:1295 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Ptosis, Brachycephaly, Secondary microcephaly, Hypoplasia of the corp... |
OMIM:615663 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Dandy-Walker malformation, Micrognathia, Anencephaly, Brachycephaly, Trigonocephaly, Wide nasal b... |
OMIM:619148 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Highly arched eyebrow, Ptosis, Trigonocephaly, Upslanted palpebral fissure, Brachyc... |
OMIM:613792 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Narrow palpebral fissure, Brachycephaly, Abnormal subcutaneous fat ti... |
ORPHA:487825 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Brachycephaly, Large fontanelles, Craniosynostosis, Abnormality of the septum p... |
ORPHA:171839 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Midface retrusion, Mandibular prognathia, Short co... |
ORPHA:1248 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal nasal morphology |
ORPHA:245 |
8Q12 Microduplication Syndrome |
|
Highly arched eyebrow, Brachycephaly, Epicanthus, Telecanthus, Long palpebral fissure |
ORPHA:228399 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Aplas... |
ORPHA:2162 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Dysphagia, Brachycephaly |
OMIM:264470 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Short nose, Malar flattening |
OMIM:122880 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Highly arched eyebrow, Brachycephaly, Telecanthus, Epicanthus, Spina bifida, Midface retrusion, B... |
ORPHA:1327 |
Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Hydrocephalus... |
OMIM:611134 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Hydranencephaly, Microcephaly |
OMIM:601355 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy |
ORPHA:320385 |
Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Narrow palpebral fissure, Megalencephaly, Brachycephaly, Frontal bossing, ... |
OMIM:600325 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Long nose, Hypoplasia of the zygomatic bone, Malar flatt... |
ORPHA:1968 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Dolichoce... |
ORPHA:272 |
Chiari Malformation Type Ii |
|
Dysphagia, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Agenesis of corpus callosum |
OMIM:207950 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion |
ORPHA:2776 |
Distal Monosomy 13Q |
|
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly |
ORPHA:1590 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Ptosis, Brachycephaly, Telecanthus, Absent inner eyelashes... |
ORPHA:1791 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... |
OMIM:604757 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Palmoplantar cutis laxa, Ptosis, Brachycephaly, Downslanted palpebral fissures, Eyelid coloboma, ... |
OMIM:268850 |
Pierpont Syndrome |
|
Narrow palpebral fissure, Brachycephaly, Telecanthus, Unilateral narrow palpebral fissure, Midfac... |
OMIM:602342 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Prominent nasal bridge, Delayed eruption of teeth, ... |
OMIM:601812 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of ... |
ORPHA:2715 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly |
OMIM:300699 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:615031 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Maxillozygomatic hypopl... |
OMIM:273050 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Upslanted palpebral fissure, Thick corpus callosum, Prominent occip... |
OMIM:618672 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Upslanted palpebral fissure, Craniosynostosis, Epicanthus, Short palpebral fissure... |
OMIM:613174 |
Lujan-Fryns Syndrome |
|
Micrognathia, Brachycephaly, Prominent nasal bridge, Macrocephaly, Aplasia/Hypoplasia of the corp... |
ORPHA:776 |
German Syndrome |
|
Dysphagia, Brachycephaly, Downslanted palpebral fissures, Abnormal eyebrow morphology, Midface re... |
ORPHA:2077 |
Microhydranencephaly |
|
Hydranencephaly, Prominent nasal bridge, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypo... |
OMIM:605013 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Ptosis, Brachycephaly, Global brain atrophy, Epicanthus, Downslanted palpebral fis... |
OMIM:616801 |
Warburg Micro Syndrome 3 |
|
Brachycephaly, Microcephaly, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus cal... |
OMIM:614222 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Brachycephaly, Parietal foramina |
ORPHA:52022 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Short nose, Hypoplasia of the zygomatic bone, Frontal bossing, Macrocepha... |
ORPHA:1340 |
Muenke Syndrome |
|
Plagiocephaly, Brachycephaly, Ptosis, Hydrocephalus, Coronal craniosynostosis |
ORPHA:53271 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Temporal cortical atrophy, Brachycephaly, Upslanted palpebral fissure, Prominent m... |
OMIM:618862 |
Fetal Trimethadione Syndrome |
|
Brachycephaly, Ptosis, Epicanthus, Midface retrusion, Microcephaly, Synophrys |
ORPHA:1913 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Thin calvarium, Microcephaly, Brachycephaly |
OMIM:122900 |
Xq28 (MECP2) duplication |
|
Dysphagia, Brachycephaly, Death in childhood, Hypoplasia of the corpus callosum, Microcephaly |
DECIPHER:45 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Brachycephaly, Trigonocephaly, Sparse eyebrow, Downslanted palpebral f... |
ORPHA:459061 |
Gomez-Lopez-Hernandez Syndrome |
|
Agenesis of cerebellar vermis, Brachycephaly, Craniosynostosis, Skull asymmetry, Downslanted palp... |
OMIM:601853 |
Treacher-Collins Syndrome |
|
Micrognathia, Midface retrusion, Brachycephaly, Branchial fistula, Hypoplasia of the zygomatic bo... |
ORPHA:861 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Hypoplasia of the zygomatic bone, Prominent occiput, Abnormality of the extern... |
ORPHA:556955 |
Hartsfield Syndrome |
|
Lobar holoprosencephaly, Wide nose, Craniosynostosis, Gonadotropin deficiency, Hypoplasia of the ... |
OMIM:615465 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Malar flattening, Wide nasal bridge, Macrocephaly, Hypoplasia of the maxilla |
ORPHA:261295 |
Prolidase Deficiency |
|
Carious teeth, Depressed nasal ridge, Micrognathia, Depressed nasal bridge, Hypoplasia of the zyg... |
ORPHA:742 |
Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Ptosis, Brachycephaly, Long eyelashes, Telecanthus, Cutis marmorata, Micro... |
OMIM:300882 |
Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, Long eyelashes, Horizontal eyebrow, Cerebellar vermis hypoplasia, Cutis marmorata,... |
OMIM:609757 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Micrognathia, Hydranencephaly, Death in infancy, Myelomeningocele, Spina bifida, Por... |
ORPHA:1393 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, Telecanthus, Downslanted palpebral fissures, Frontal bossing, Cerebral atrophy, Mi... |
OMIM:615539 |
Cdags Syndrome |
|
Sparse eyelashes, Midface retrusion, Ectropion, Ptosis, Brachycephaly, Parietal foramina, Frontal... |
OMIM:603116 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Macrocephaly, Prominent nasal bridge, Microcephaly |
ORPHA:85279 |
Menkes Disease |
|
Death in childhood, Wormian bones, Microcephaly, Brachycephaly |
OMIM:309400 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Malar flattening, Prominent nasal bridge, Microretrognathia, Aqueductal stenosis |
ORPHA:1788 |
Mental Retardation, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Malar flattening, Macrocephaly, Hydrocephalus, Hypoplasia of the maxilla, Agenesis... |
OMIM:109120 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Large fontanelles, Brachycephaly, Ptosis, Delayed cranial suture closure, Microcephaly |
ORPHA:2511 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Downslanted palpebral fissures, Brachycephaly |
ORPHA:314575 |
Lowry-Maclean Syndrome |
|
Small anterior fontanelle, Micrognathia, Convex nasal ridge, Talon cusp, Trigonocephaly, Short no... |
ORPHA:2409 |
Gorlin Syndrome |
|
Brachycephaly, Telecanthus, Epicanthus, Frontal bossing, Hydrocephalus, Cerebral calcification |
ORPHA:377 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Hypoplasia of the corpus callo... |
OMIM:618603 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Wide nose, Hypoplasia of the zygomatic bone, Wide nasal bridge, Absent frontal sinu... |
ORPHA:955 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Hypoplasia of the maxilla... |
ORPHA:193 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Maxillozygomatic hypoplasia, Brachycephaly, Trigonocephaly, Short nose, Cranios... |
ORPHA:1790 |
Meckel Syndrome, Type 2 |
|
Meningocele, Dandy-Walker malformation, Anencephaly |
OMIM:603194 |
Muenke Syndrome |
|
Plagiocephaly, Brachycephaly, Ptosis, Downslanted palpebral fissures, Coronal craniosynostosis, M... |
OMIM:602849 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Microcephaly, Prematurely aged appearance, Midface retrusion, Cerebral cortical at... |
ORPHA:1387 |
Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Prominent occiput, Plagiocephaly, Cerebral cortical atrophy |
ORPHA:1665 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Short nose, Spina bifida, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:3380 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Dysphagia, Microcephaly |
OMIM:150260 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplastic frontal sinuses, Short columella, Wide nasal bridge, Bifid nose, Per... |
OMIM:136760 |
Frontonasal Dysplasia 3 |
|
Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow, Brachycephaly |
OMIM:613456 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Short nose, Aplasia/Hypoplasia involving the nose,... |
ORPHA:1529 |
49,Xxxxy Syndrome |
|
Carious teeth, Depressed nasal ridge, Arrhinencephaly, Depressed nasal bridge, Brachycephaly, Man... |
ORPHA:96264 |
Desanto-Shinawi Syndrome |
|
Brachycephaly, Thick eyebrow, Midface retrusion, Hypoplasia of the corpus callosum, Synophrys |
OMIM:616708 |
Holoprosencephaly 7 |
|
Flat occiput, Short nose, Parietal bossing, Frontal bossing, Hypoplasia of the premaxilla, Flat n... |
OMIM:610828 |
Mental Retardation, Autosomal Dominant 13 |
|
Plagiocephaly, Downslanted palpebral fissures, Pachygyria, Hypoplasia of the brainstem, Cerebella... |
OMIM:614563 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Broad nasal tip |
OMIM:259610 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures, Synophrys |
OMIM:615761 |
9P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Metopic synostosis, Brachycephaly, Epicanthus, Thick eyebrow, Umbilical he... |
ORPHA:324313 |
Acrofrontofacionasal Dysostosis |
|
Eyelid coloboma, Ptosis, Brachycephaly, Downslanted palpebral fissures, Midface retrusion, Aplasi... |
ORPHA:1784 |
Acromelic Frontonasal Dysostosis |
|
Ptosis, Brachycephaly, Telecanthus, Downslanted palpebral fissures, Hypopituitarism, Hypoplasia o... |
OMIM:603671 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Brachycephaly, Upslanted palpebral fissure, Erythema, Telangiectasia ... |
ORPHA:99812 |
Jackson-Weiss Syndrome |
|
Convex nasal ridge, Midface retrusion, Mandibular prognathia, Frontal bossing, Turricephaly, Hypo... |
ORPHA:1540 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Craniofrontonasal Dysplasia |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Downslanted palpebral fissures, Frontal bossing, ... |
ORPHA:1520 |
Chopra-Amiel-Gordon Syndrome |
|
Almond-shaped palpebral fissure, Brachycephaly, Upslanted palpebral fissure, Midface retrusion, M... |
OMIM:619504 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Ptosis, Brachycephaly, Hypoplasia of the pons, Optic nerve hypoplasia, Telecanthus, Downslanted p... |
OMIM:612513 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Flat occiput, Large fontanelles, Ptosis, Brachycephaly, Downslanted p... |
ORPHA:2211 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Subcortical band heterotopia, Midface retrusion, Malar flattening, Wide nasal bridg... |
OMIM:601390 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter hypoplasia, Craniosynostosis, Simplified gyral pattern, Primary microcephal... |
ORPHA:284417 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Bifid nose, Pericallosal lipoma, Hypoplasia of the ... |
ORPHA:306542 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Epicanthus, Frontal bossing, ... |
ORPHA:2780 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Dysplastic corpus callosum, Brachycephaly, Midface retrusion, Agenesis of ... |
OMIM:616854 |
2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Polyphagia, Brachycephaly, Microcephaly, Synophrys |
ORPHA:228402 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Thin eyebrow, Brachycephaly, Upslanted palpebral fissure, Telecanthus, Epicanthus, ... |
ORPHA:2707 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Short nose, Malar flattening, Bifid nose, Hypoplasia of... |
OMIM:229400 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Brachycephaly, Downslanted palpebral fissures, Hydrocephalus, Prominen... |
OMIM:220210 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly |
OMIM:614416 |
Van Maldergem Syndrome 2 |
|
Micrognathia, Subcortical band heterotopia, Midface retrusion, Malar flattening, Wide nasal bridg... |
OMIM:615546 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Focal T2 hyperintense basal ganglia lesion, Dysphagia, Abnormal cerebral morphology, Brachycephaly |
ORPHA:70472 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly, Prominent nasal bridge |
OMIM:300676 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Short nose, Wide nasal bridge, Hypoplasia of the maxilla, Agenesis of corpus callosum |
OMIM:218000 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Highly arched eyebrow, Brachycephaly, Upslanted palpebral fissure, Lissencephaly, Microcephaly |
OMIM:618142 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Trigonocephaly, Short nose, Malar flattening, Hypoplasia of the maxilla, Secondary ... |
ORPHA:79113 |
Monosomy 18P |
|
Brachycephaly, Holoprosencephaly, Ptosis, Epicanthus, Microcephaly |
ORPHA:1598 |
Pfeiffer Syndrome |
|
Brachyturricephaly, Depressed nasal bridge, Cloverleaf skull, Mandibular prognathia, Short nose, ... |
OMIM:101600 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell, Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:958 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Hypoplasia of the olfactory bulb, Large fontanelles, Ptosis, Brachycephaly, Telecant... |
ORPHA:1827 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections... |
ORPHA:2399 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Depressed nasal bridge, Midface retrusion, Malar flattening, Frontal bossing, Promi... |
OMIM:108721 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Otofacioosseous-Gonadal Syndrome |
|
Brachycephaly, Epicanthus, Wormian bones, Downslanted palpebral fissures, Frontal bossing |
OMIM:601976 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Brachycephaly, Upslanted palpebral fissure, Telecanthus, Frontal b... |
ORPHA:228390 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short nose, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the maxilla, Hyp... |
OMIM:614261 |
Chromosome 2Q37 Deletion Syndrome |
|
Highly arched eyebrow, Narrow palpebral fissure, Brachycephaly, Midface retrusion, Blepharophimosis |
OMIM:600430 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly |
ORPHA:397973 |
Laurence-Moon Syndrome |
|
Epicanthus, Brachycephaly |
ORPHA:2377 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge |
OMIM:156510 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Mandibular aplasia, ... |
ORPHA:63259 |
Acrofrontofacionasal Dysostosis 2 |
|
Brachycephaly, Ptosis, Downslanted palpebral fissures, Wide anterior fontanel, Microcephaly |
OMIM:239710 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Wormian bones, Midface retrusion |
OMIM:613849 |
Al Kaissi Syndrome |
|
Brachycephaly, Telecanthus, Downslanted palpebral fissures, Epicanthus, Hypoplasia of the corpus ... |
OMIM:617694 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Brachycephaly, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, M... |
ORPHA:261652 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Lobar holoprosencephaly, Brachycephaly, Bilateral ptosis, Upslanted palpeb... |
OMIM:614701 |
Grant Syndrome |
|
Frontal bossing, Wormian bones, Large fontanelles, Brachycephaly |
ORPHA:2097 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Calvarial skull defect |
ORPHA:1114 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Highly arched eyebrow, Brachycephaly, Ptosis, Upslanted palpebral fissure, Epicanthus inversus |
ORPHA:2988 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Brachycephaly, Craniosynostosis, Epicanthus, Proboscis, Frontal bossing, Cerebe... |
OMIM:605627 |
Tetrasomy 5P |
|
Upslanted palpebral fissure, Epicanthus, Pericallosal lipoma, Cyanosis, Wide anterior fontanel, H... |
ORPHA:3309 |
Amish Lethal Microcephaly |
|
Micrognathia, Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agenes... |
ORPHA:99742 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Macrocephaly, Depressed nasal bridge, Prominent nasal bridge |
ORPHA:2662 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Micrognathia, Craniosynostosis, Frontal bossing, Wide anterior fontanel, Hydr... |
OMIM:182212 |
Orofaciodigital Syndrome Type 1 |
|
Dandy-Walker malformation, Underdeveloped nasal alae, Micrognathia, Hypoplasia of the zygomatic b... |
ORPHA:2750 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Micrognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge |
ORPHA:989 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Telangiectasia, Agenesis of corpus callosum, Brachycephaly, Telecanthu... |
OMIM:612582 |
Pelvis-Shoulder Dysplasia |
|
Micrognathia, Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Meckel Syndrome, Type 5 |
|
Anencephaly |
OMIM:611561 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Malar flattening, Choanal stenosis, Coronal craniosynostosis, Hypoplasia of the max... |
OMIM:241310 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, Epicanthus, Downslanted palpebral fissures, Microcephaly, Synophrys |
ORPHA:3306 |
Fountain Syndrome |
|
Ptosis, Erythema, Epicanthus, Cutis marmorata, Spina bifida, Thick eyebrow, Craniofacial hyperost... |
ORPHA:3219 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Sparse and thin eyebrow |
ORPHA:66625 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose |
ORPHA:93945 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Convex nasal ridge, Prominent n... |
OMIM:216550 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Epicanthus, Brachycephaly |
OMIM:614800 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Pycnodysostosis |
|
Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Convex nasal ri... |
ORPHA:763 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Brachycephaly, Anterior plagiocephaly, Epicanthus, Long palpebral fissure, Abnormality of cranial... |
ORPHA:163649 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Partial agenesis of the corpus callosum, Dysphagia, Myelomeningocele, Cyanosis, Hydr... |
ORPHA:1136 |
Ring Chromosome 13 Syndrome |
|
Micrognathia, Depressed nasal bridge, Anencephaly, Trigonocephaly, Wide nasal bridge, Frontal bos... |
ORPHA:96176 |
Apert Syndrome |
|
Brachyturricephaly, Convex nasal ridge, Depressed nasal bridge, Midface retrusion, Cloverleaf sku... |
ORPHA:87 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Dandy-Walker malformation, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Short palpebra... |
OMIM:156610 |
2Q32Q33 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Microcephaly, Brachycephaly |
ORPHA:251019 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Ptosis, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Horizontal eyebrow... |
ORPHA:369891 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Upslanted palpebral fissure, Frontal bossing, Brachycephaly |
OMIM:616789 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Simplified gyral pattern, Acrocyanosis, Progressive microcephaly, Cerebellar hypop... |
OMIM:614407 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Highly arched eyebrow, Brachycephaly, Long eyelashes, Downslanted palpebral fissure... |
OMIM:617452 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Anencephaly |
OMIM:612284 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Flat occiput, Highly arched eyebrow, Brachycephaly, Long eyelashes, Downslanted palpebral fissure... |
ORPHA:505237 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Micrognathia, Prominent nasal tip, Depressed nasal bridge, Thickened calvaria, Br... |
ORPHA:439822 |
Acrodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Midface retrusion, Brachycephaly, Mandibular progn... |
ORPHA:950 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Anteverted nares, Hypoplasia of the maxilla, Microretrognathia, Biparietal narrowing |
ORPHA:228396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Micrognathia, Long nose, Prominent nasal bridge, Frontal bossing, Macrocephaly, Narrow nasal brid... |
OMIM:309520 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Epicanthus, Frontal bossing, Thick eyebrow, Biparietal narrowing, Umbilical hernia... |
ORPHA:1292 |
Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Holoprosencephaly, Neonatal death, Macrocephaly, Hydrocephalus, Natal tooth |
OMIM:269860 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Downslanted palpebral fissures, Acrocyanosis, Thick eyebrow, Blepharophimosis, Micro... |
ORPHA:896 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Midface retrusion, Brachycephaly |
OMIM:264180 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Underdeveloped nasal alae, Micrognathia, Narr... |
OMIM:257850 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Craniosynostosis, Wide nasal bridge, Hypoplasia of the maxilla, Abnormalit... |
ORPHA:178303 |
Raine Syndrome |
|
Plagiocephaly, Highly arched eyebrow, Brachyturricephaly, Large fontanelles, Brachycephaly, Neona... |
OMIM:259775 |
Aicardi-Goutières Syndrome |
|
Plagiocephaly, Arrhinencephaly, Multifocal cerebral white matter abnormalities, Ptosis, Degenerat... |
ORPHA:51 |
Cree Mental Retardation Syndrome |
|
Large fontanelles, Downslanted palpebral fissures, Brachycephaly, Ptosis |
OMIM:606851 |
Trisomy 20P |
|
Plagiocephaly, Highly arched eyebrow, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Dow... |
ORPHA:261318 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Microcephaly, Brachycephaly |
OMIM:615419 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Brachycephaly, Horizontal eyebrow, Thick eyebrow, Cerebral atrophy, Hypoplasia of t... |
OMIM:618797 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Midface retrusion, Retrognathia, Hypoplasia of the maxilla, Choanal atresia, Microc... |
OMIM:616462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
OMIM:300958 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Cerebellar hypoplasia, Brachyc... |
OMIM:611961 |
Ablepharon Macrostomia Syndrome |
|
Underdeveloped nasal alae, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Anteverted n... |
ORPHA:920 |
Cerebrofaciothoracic Dysplasia |
|
Brachycephaly, Epicanthus, Downslanted palpebral fissures, Cerebellar vermis hypoplasia, Thick ey... |
ORPHA:1394 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Brachycephaly, Telecanthus, Epicanthus, Wide anterior fontanel, Microcephaly |
OMIM:263210 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Dolichocephaly, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia |
OMIM:246560 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Dysphagia, Cyanosis, Abnormality of the basal ganglia, Cerebral ... |
ORPHA:391428 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Malar flattening, Wide nasal bridge, Anteverted nares, Abnormality of font... |
ORPHA:2412 |
Arthrogryposis And Ectodermal Dysplasia |
|
Narrow palpebral fissure, Trichiasis, Brachycephaly, Ectodermal dysplasia, Absent eyebrow, Blepha... |
OMIM:601701 |
Recombinant Chromosome 8 Syndrome |
|
Midface retrusion, Secondary microcephaly, Brachycephaly, Cerebral atrophy |
OMIM:179613 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Turricephaly, Brachycephaly |
ORPHA:2145 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, Partial agenesis of the corpus callosum, Almond-shaped palpebral fissure, Large fo... |
OMIM:619512 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Plagiocephaly, Highly arched eyebrow, Laterally extended eyebrow, Ptosis, Brachycephaly, Delayed ... |
OMIM:610759 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Dandy-Walker malformation, Micrognathia, Arrhinencephaly, Severe hydr... |
OMIM:236680 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Brachyturricephaly, Optic nerve hypoplasia, Telecanthus, Frontal bossing, Eyelid coloboma |
OMIM:607597 |
Carpenter Syndrome 1 |
|
Micrognathia, Depressed nasal bridge, Midface retrusion, Brachycephaly, Malar flattening, Persist... |
OMIM:201000 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Delayed eruption of permanent teeth, Antegonial notching of mandible, Malar flatten... |
OMIM:170390 |
Meckel Syndrome, Type 1 |
|
Dandy-Walker malformation, Micrognathia, Anencephaly, Hydrocephalus, Cerebellar hypoplasia, Olfac... |
OMIM:249000 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Brachycephaly, Epicanthus, Frontal bossing, Midface retrusion |
OMIM:618430 |
Vacterl With Hydrocephalus |
|
Micrognathia, Arrhinencephaly, Spina bifida, Hydrocephalus, Retrognathia, Aqueductal stenosis |
ORPHA:3412 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Short nose, Craniosynostosis, Wide nasal bridge, Frontal bossing, Retrogn... |
OMIM:608156 |
Vacterl/Vater Association |
|
Anencephaly, Large fontanelles |
ORPHA:887 |
Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Highly arched eyebrow, Brachycephaly, Sparse lateral eyebrow, Wormian bones, Midfa... |
OMIM:618644 |
Crouzon Syndrome |
|
Conjunctivitis, Shallow orbits, Brachycephaly, Frontal bossing, Coronal craniosynostosis, Sagitta... |
OMIM:123500 |
Mohr Syndrome |
|
Agenesis of central incisor, Micrognathia, Depressed nasal bridge, Broad nasal tip, Malar flatten... |
OMIM:252100 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Global brain atrophy, Microcephaly, Brachycephaly |
OMIM:608776 |
Distal Monosomy 10Q |
|
Brachycephaly, Upslanted palpebral fissure, Craniosynostosis, Epicanthus, Downslanted palpebral f... |
ORPHA:96148 |
Momo Syndrome |
|
Brachycephaly, Epicanthus, Downslanted palpebral fissures, Frontal bossing, Cutis marmorata, Eyel... |
OMIM:157980 |
Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Global brain atrophy, Frontal cortical atrophy, Cyanosis, Small basal ... |
ORPHA:621 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose |
ORPHA:90653 |
Ritscher-Schinzel Syndrome 4 |
|
Dandy-Walker malformation, Plagiocephaly, Premature anterior fontanel closure, Dysphagia, Dysgene... |
OMIM:619435 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Depressed nasal bridge, Wide nose, Advanced eruption of teeth, Delayed ... |
ORPHA:192 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Brachycephaly |
OMIM:612379 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Highly arched eyebrow, Midface retrusion, Brachycephaly, Cerebral cortical atrophy,... |
ORPHA:96147 |
Charge Syndrome |
|
Dandy-Walker malformation, Depressed nasal bridge, Holoprosencephaly, Hypoplasia of the zygomatic... |
ORPHA:138 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Depressed nasal bridge, Midf... |
OMIM:610829 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysphagia, Dysplastic corpus callosum, Cyanosis, ... |
ORPHA:488627 |
20Q11.2 Microduplication Syndrome |
|
Ptosis, Trigonocephaly, Brachycephaly, Epicanthus, Downslanted palpebral fissures, Palpebral edem... |
ORPHA:363659 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Microcephaly, Brachycephaly |
OMIM:309541 |
2P15P16.1 Microdeletion Syndrome |
|
Dysphagia, Ptosis, Brachycephaly, Optic nerve hypoplasia, Telecanthus, Downslanted palpebral fiss... |
ORPHA:261349 |
Craniosynostosis-Fibular Aplasia Syndrome |
|
Large fontanelles, Brachycephaly, Ptosis, Wormian bones, Midface retrusion, Microcephaly |
ORPHA:1533 |
Beck-Fahrner Syndrome |
|
Brachycephaly, Ptosis, Lacrimal duct stenosis, Periventricular leukomalacia, Microcephaly |
OMIM:618798 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Dandy-Walker malformation, Hydranencephaly, Absent eyelashes, Small placent... |
OMIM:256520 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Brachycephaly, Dysphagia, Microcephaly, Ptosis |
OMIM:301041 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Brachycephaly, Bilateral ptosis, Upslanted palpebral fissure, Downslanted ... |
ORPHA:404440 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Large fontanelles, Brachycephaly, Wormian bones, Prominent superficial blood vessels, Wide crania... |
OMIM:219150 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Coronal craniosynostosis, ... |
OMIM:207410 |
Pfeiffer Syndrome Type 1 |
|
Midface retrusion, Bicoronal synostosis, Brachycephaly, Aqueductal stenosis |
ORPHA:93258 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Ptosis, Telecanthus, White eyelashes, Spina bifida, Thick eyebrow, White eyebrow, Pr... |
ORPHA:894 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Dysphagia, Brachycephaly, Ptosis, Upslanted palpebral fissure, Epicanthus, Midface retrusion, Mic... |
OMIM:300260 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Gorlin-Chaudhry-Moss Syndrome |
|
Upper eyelid coloboma, Brachycephaly, Abnormal eyelid morphology, Coronal craniosynostosis, Umbil... |
ORPHA:2095 |
Acrocephalopolysyndactyly Type Iii |
|
Mandibular prognathia, Craniosynostosis, Malar flattening, Oxycephaly, Hypoplasia of the maxilla |
OMIM:101120 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Cousin Syndrome |
|
Micrognathia, Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Hallermann-Streiff Syndrome |
|
Telangiectasia, Sparse eyelashes, Brachycephaly, Downslanted palpebral fissures, Wormian bones, P... |
OMIM:234100 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Umbili... |
ORPHA:915 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... |
OMIM:617296 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Arrhinencephaly, Depressed nasal bridge, Death in infancy, Frontal bossing, Hypopla... |
ORPHA:1106 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Depressed nasal bridge, Midface retrusion, Brachycephaly, Mandibular prognathia,... |
OMIM:101800 |
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies |
|
Epicanthus inversus, Upslanted palpebral fissure, Brachycephaly, Ptosis |
OMIM:600159 |
Mandibulofacial Dysostosis With Alopecia |
|
Micrognathia, Wide nasal bridge, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Tr... |
OMIM:616367 |
Angelman Syndrome |
|
Flat occiput, Brachycephaly, Mandibular prognathia, Hypoplasia of the maxilla, Secondary microcep... |
OMIM:105830 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Short nose, Narrow nasal ridge, Anteverted nares, Prominence of the premaxilla |
OMIM:137550 |
Sweeney-Cox Syndrome |
|
Upper eyelid coloboma, Brachycephaly, Wide anterior fontanel, Cerebellar hypoplasia, Prominent me... |
OMIM:617746 |
Familial Lambdoid Synostosis |
|
Plagiocephaly, Flat occiput, Telecanthus, Hydrocephalus, Blepharophimosis |
ORPHA:3267 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Plagiocephaly, Telangiectasia, Highly arched eyebrow, Dysphagia, Brachycephaly, Telecanthus, Prom... |
ORPHA:495818 |
Apert Syndrome |
|
Brachyturricephaly, Megalencephaly, Shallow orbits, Large fontanelles, Acrobrachycephaly, Midface... |
OMIM:101200 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Hypoplasia of the brainstem, Bulbous nose, Progressive microcephaly, Anteve... |
ORPHA:481152 |
Meckel Syndrome |
|
Dandy-Walker malformation, Depressed nasal ridge, Micrognathia, Anencephaly, Lobar holoprosenceph... |
ORPHA:564 |
Blepharocheilodontic Syndrome 1 |
|
Ectropion of lower eyelids, Distichiasis, Neural tube defect |
OMIM:119580 |
Smith-Magenis Syndrome |
|
Midface retrusion, Brachycephaly, Synophrys |
OMIM:182290 |
Goldberg-Shprintzen Syndrome |
|
Wide nasal bridge, Prominent nasal bridge, Pachygyria, Hypoplasia of the brainstem, Bulbous nose,... |
OMIM:609460 |
Aymé-Gripp Syndrome |
|
Plagiocephaly, Large fontanelles, Brachycephaly, Bilateral ptosis, Upslanted palpebral fissure, C... |
ORPHA:1272 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Midface retrusion, Overhanging nasal tip |
OMIM:619142 |
19P13.13 Microdeletion Syndrome |
|
Hypoplasia of the frontal lobes, Brachycephaly, Optic nerve hypoplasia, Long eyelashes, Epicanthu... |
ORPHA:357001 |
Martsolf Syndrome 1 |
|
Micrognathia, Broad nasal tip, Depressed nasal bridge, Brachycephaly, Hypoplasia of the maxilla, ... |
OMIM:212720 |
Trisomy 9P |
|
Downslanted palpebral fissures, Microcephaly, Brachycephaly |
ORPHA:236 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Choking episodes, Impaired oropharyngeal swallow response |
ORPHA:2004 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:608688 |
X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Microcephaly, Brachycephaly |
ORPHA:85290 |
19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Craniosynostosis, Epicanthus, Aplasia/Hypoplasia of the cerebellar vermis, Hypopla... |
ORPHA:254346 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Meningocele, Micrognathia, Arrhinencephaly, Occipital myelomeningocele, Malar flat... |
ORPHA:567 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Brachyturricephaly, Downslanted palpebral fissures, Synophrys |
OMIM:300280 |
Choanal Atresia |
|
Cyanosis, Craniosynostosis, Choking episodes |
ORPHA:137914 |
3P25.3 Microdeletion Syndrome |
|
Brachycephaly, Cerebral white matter atrophy, Epicanthus, Downslanted palpebral fissures, Abnorma... |
ORPHA:435638 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Dysplastic corpus callosum, Large fontanelles, Wide nasal bridge, Bilateral choanal... |
ORPHA:314679 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Midface retrusion |
ORPHA:782 |
Warburg Micro Syndrome 2 |
|
Brachycephaly, Global brain atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the co... |
OMIM:614225 |
Momo Syndrome |
|
Brachycephaly, Epicanthus, Downslanted palpebral fissures, Frontal bossing, Cutis marmorata, Eyel... |
ORPHA:2563 |
Smith-Magenis Syndrome |
|
Brachycephaly, Upslanted palpebral fissure, Corticospinal tract hypoplasia, Frontal bossing, Apla... |
ORPHA:819 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly, Ptosis, Cerebellar vermis hypoplasia, Eversion of lateral third of lower eyelids, ... |
ORPHA:364028 |
Doors Syndrome |
|
Macrodontia of permanent maxillary central incisor, Dandy-Walker malformation, Arrhinencephaly, D... |
ORPHA:79500 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Dandy-Walker malformation, Midface retrusion, Brachycephaly, Upslanted palpebral fissure, Epicant... |
OMIM:257300 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:236410 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cranial asymmetry, Delayed closure of the anterior fontanelle, Epicanthus, Wide anterior fontanel... |
OMIM:614886 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Telecanthus, Wormian bones, Cerebellar hypoplasia, Microcephaly |
OMIM:616897 |
Distal Xq28 Microduplication Syndrome |
|
Broad nasal tip, Epistaxis, Recurrent upper respiratory tract infections, Hypoplasia of the maxil... |
ORPHA:293939 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Hydrocephal... |
ORPHA:500055 |
Alagille Syndrome |
|
Brachycephaly, Telangiectasia of the skin, Downslanted palpebral fissures, Frontal bossing, Spina... |
ORPHA:52 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Umbilical hernia, Brachycephaly |
ORPHA:1488 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Mandibular prognathia, Prominent nasal bridge, Recurrent upper respiratory tract in... |
OMIM:300534 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Absent eyebrow, Absent eyelashes, Parie... |
ORPHA:85199 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Epicanthus, Downslanted palpebral fissures, Brachycephaly |
OMIM:142625 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Agenesis of lateral incisor, Abnormality of dental eruptio... |
ORPHA:199306 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polymicrogyria, Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly |
OMIM:616546 |
White-Sutton Syndrome |
|
Brachycephaly, Cerebral atrophy, Midface retrusion, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616364 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Brachycephaly, Telecanthus, Downslanted palpebral fissures, Frontal bossing, Hy... |
OMIM:304110 |
Marshall-Smith Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Death in childhood, Short nose, Malar flattening, Short... |
OMIM:602535 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Malar flattening, Wormian bones, Hypoplasia of the maxilla, Microcephaly |
OMIM:231070 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Hydrocephalus, Hypoplasia of the maxilla, Umbilical hernia |
OMIM:601499 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Prominent nasal bridge, Macrocephaly |
ORPHA:1307 |
Distal Monosomy 3P |
|
Umbilical hernia, Ptosis, Brachycephaly, Telecanthus, Epicanthus, Blepharophimosis, Microcephaly |
ORPHA:1620 |
Down Syndrome |
|
Brachycephaly, Upslanted palpebral fissure, Epicanthus, Prematurely aged appearance, Abnormality ... |
ORPHA:870 |
Kohlschutter-Tonz Syndrome-Like |
|
Dysphagia, Midface retrusion, Brachycephaly, Global brain atrophy, Downslanted palpebral fissures... |
OMIM:619229 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Microcephaly, Spina bifida occulta |
ORPHA:64754 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Kagami-Ogata Syndrome |
|
Micrognathia, Depressed nasal bridge, Frontal bossing, Retrognathia, Anteverted nares, Hypoplasia... |
OMIM:608149 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Mandibular prognathia, Wide nose, Cleft ... |
ORPHA:3044 |
Alg3-Cdg |
|
Dandy-Walker malformation, Neural tube defect, Hypoplasia of the pons, Abnormal cerebral morpholo... |
ORPHA:79321 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Highly arched eyebrow, Cerebral white matter hypoplasia, Ptosis, Brachycephaly, Downslanted palpe... |
OMIM:616728 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Highly arched eyebrow, Sparse eyelashes, Ptosis, Brachycephaly, Upslanted palpebral fissure, Cran... |
OMIM:213980 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Telangiectasia, Highly arched eyebrow, Abnormal parietal bone morphology, Brachyce... |
ORPHA:247262 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Microcephaly |
OMIM:250800 |
Larsen-Like Syndrome |
|
Frontal bossing, Wide anterior fontanel, Brachycephaly |
OMIM:608545 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Turricephaly, Microcephaly |
ORPHA:1867 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Downslanted palpebral fissures, Microcephaly, Unilateral ptosis |
ORPHA:3304 |
De Barsy Syndrome |
|
Brachycephaly, Excessive wrinkled skin, Progeroid facial appearance, Delayed closure of the anter... |
ORPHA:2962 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ptosis |
ORPHA:98913 |
Kleefstra Syndrome 1 |
|
Brachycephaly, Upslanted palpebral fissure, Midface retrusion, Microcephaly, Synophrys |
OMIM:610253 |
Adnp Syndrome |
|
Plagiocephaly, Polyphagia, Brachycephaly, Trigonocephaly, Bilateral ptosis, Long palpebral fissur... |
ORPHA:404448 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly |
ORPHA:1335 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Fryns Syndrome |
|
Dandy-Walker malformation, Arrhinencephaly, Wide nasal bridge, Stillbirth, Hypoplasia of the opti... |
OMIM:229850 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Hypoplasia of the maxilla, Micrognathia, Microcephaly |
OMIM:613805 |
Williams Syndrome |
|
Carious teeth, Micrognathia, Abnormality of the diencephalon, Hypoplasia of the zygomatic bone, A... |
ORPHA:904 |
Aicardi-Goutieres Syndrome 1 |
|
Deep white matter hypodensities, Petechiae, Erythema, Leukoencephalopathy, Acrocyanosis, Intracer... |
OMIM:225750 |
Anophthalmia Plus Syndrome |
|
Eyelid coloboma, Spina bifida, Blepharophimosis |
ORPHA:1104 |
Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Ptosis, Brachycephaly, Abnormal corpus callosum morphology, Cerebral atrophy, Midf... |
OMIM:618268 |
Caudal Regression Sequence |
|
Arrhinencephaly |
ORPHA:3027 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Craniosynostosis, Frontal bossing, Retrognathia, Antev... |
ORPHA:2462 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Micrognathia, Arrhinencephaly, Abnormal parietal bone morphology... |
ORPHA:3472 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Upslanted palpebral fissure, Thin calvarium, Spina bifida, Hydrocephalus, Spina... |
ORPHA:2437 |
Subaortic Stenosis--Short Stature Syndrome |
|
Midface retrusion, Short nose, Malar flattening, Wide nasal bridge, Anteverted nares, Hypoplasia ... |
OMIM:271960 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Brachycephaly, Microcephaly, Cerebral atrophy |
OMIM:103050 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Convex nasal ridge, Depressed nasal bridge, Brachycephaly, Craniosynostosis, Promi... |
ORPHA:794 |
Fucosidosis |
|
Acrocyanosis, Brachycephaly, Vascular skin abnormality |
ORPHA:349 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Depressed nasal ridge, Micrognathia, Dandy-Walker malformation, Cereb... |
ORPHA:2671 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Large fontanelles, Wide nose, Prominent nasal bridge, Delayed eruption of teeth, F... |
ORPHA:50814 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Arrhinencephaly, Short nose, Recurrent upper and lower respiratory trac... |
ORPHA:672 |
7Q11.23 Microduplication Syndrome |
|
Narrow palpebral fissure, Polyphagia, Brachycephaly, Craniosynostosis, Long eyelashes, Horizontal... |
ORPHA:96121 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Neonatal death, Short palpebral fissure, Hydrocephalus, Turricephaly, Cerebella... |
OMIM:612289 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Polymicrogyria, Porencephalic cyst, Fusion of the left and right thalami, Agenes... |
OMIM:156810 |
Frontorhiny |
|
Hypoplastic frontal sinuses, Midline nasal groove, Pericallosal lipoma, Aplasia/Hypoplasia of the... |
ORPHA:391474 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Plagiocephaly, Arrhinencephaly, Absent septum pellucidum, Frontal bos... |
ORPHA:2538 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Brachycephaly, Delayed closure of the anterior fontanelle, Delayed eruption of teet... |
OMIM:259600 |
Limb Body Wall Complex |
|
Short umbilical cord, Depressed nasal bridge, Anencephaly, Myelomeningocele, Wide nasal bridge, S... |
ORPHA:2369 |
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation |
|
Brachycephaly, Long eyelashes, Downslanted palpebral fissures, Cerebral atrophy, Hypoplasia of th... |
OMIM:601353 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Micrognathia, Microcephaly |
OMIM:613804 |
Hunter-Macdonald Syndrome |
|
Midface retrusion, Umbilical hernia, Ptosis, Brachycephaly, Upslanted palpebral fissure, Large fo... |
OMIM:611962 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... |
OMIM:600775 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis, Epicanthus, Microcephaly |
ORPHA:2257 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Kaufman Oculocerebrofacial Syndrome |
|
Ptosis, Brachycephaly, Upslanted palpebral fissure, Telecanthus, Epicanthus, Sparse and thin eyeb... |
OMIM:244450 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
Mesomelic Dysplasia, Nievergelt Type |
|
Dolichocephaly, Brachycephaly |
ORPHA:2633 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst, Brachycephaly, Downslanted palpebral fissures, Abnormal cerebral white matter morpho... |
OMIM:618885 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ecchymosis, Large fontanelles, Brachycephaly, Telecanthus, Downslanted palpebral fissures, Fragil... |
OMIM:601776 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Abnormal basal ganglia MRI signal intensity, Petechiae |
ORPHA:51188 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Petechiae |
OMIM:602473 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Narrow nose, Convex nasal ridge, Long nose, Brachycephaly, Malar flattening, Oxyce... |
OMIM:101400 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Telecanthus, White eyelashes, Spina bifida, Thick eyebrow, White eyebrow, Bleph... |
OMIM:193500 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Monosomy 9P |
|
Highly arched eyebrow, Agenesis of corpus callosum, Brachycephaly, Trigonocephaly, Upslanted palp... |
ORPHA:261112 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Brachycephaly, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:615398 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Brachycephaly, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, Microcephaly |
OMIM:212066 |
Branchioskeletogenital Syndrome |
|
Highly arched eyebrow, Thickened calvaria, Brachycephaly, Craniosynostosis, Telecanthus, Downslan... |
ORPHA:1299 |
Ayme-Gripp Syndrome |
|
Broad eyebrow, Ptosis, Brachycephaly, Upslanted palpebral fissure, Downslanted palpebral fissures... |
OMIM:601088 |
Down Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Brachycephaly |
OMIM:190685 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Linear Nevus Sebaceus Syndrome |
|
Dandy-Walker malformation, Plagiocephaly, Telecanthus, Biparietal narrowing, Frontal bossing, Apl... |
ORPHA:2612 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Brachycephaly, Upslanted palpebral fissure, Telecanthus, Epicanthus, Wormian bones, Short palpebr... |
OMIM:211910 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Dandy-Walker malformation, Prominent nose, Hypoplastic facial bones, Midface retrusion, Cerebella... |
OMIM:616300 |
Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Spina bifida occulta, Brachycephaly, Ptosis |
ORPHA:500 |
Aarskog-Scott Syndrome |
|
Elevated circulating follicle stimulating hormone level, Short nose, Wide nasal bridge, Anteverte... |
OMIM:305400 |
Loeys-Dietz Syndrome 5 |
|
Ptosis, Brachycephaly, Reduced subcutaneous adipose tissue, Downslanted palpebral fissures, Long ... |
OMIM:615582 |
Hamamy Syndrome |
|
Sparse lateral eyebrow, Dysphagia, Craniosynostosis, Brachycephaly |
OMIM:611174 |
Kleefstra Syndrome |
|
Highly arched eyebrow, Brachycephaly, Upslanted palpebral fissure, Cerebral cortical atrophy, Age... |
ORPHA:261494 |
Van Den Ende-Gupta Syndrome |
|
Underdeveloped nasal alae, Narrow nose, Depressed nasal bridge, Craniosynostosis, Malar flattenin... |
OMIM:600920 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Dandy-Walker malformation, Brachycephaly, Short palpebral fissure, Ce... |
OMIM:300968 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Dravet Syndrome |
|
Global brain atrophy, Dysgenesis of the hippocampus, Cyanotic episode |
ORPHA:33069 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Narrow palpebral fissure, Cervical spina bifida |
OMIM:600122 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Brachyturricephaly, Upslanted palpebral fissure, Epicanthus, Hypoplastic olfactory ... |
OMIM:214100 |
Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Brachycephaly, Ptosis, Epicanthus, Downslanted palpebral fissures |
ORPHA:2673 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Cerebral atrophy |
OMIM:261680 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Sclerotic cranial sutures, Abnormality of the orbital region, Brachycephaly, Pterygium |
ORPHA:371428 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Choking episodes, Dysphagia, Ptosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Choking episodes, Dysphagia, Ptosis |
ORPHA:98914 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Decreased calvarial ossification, Micrognathia, Depressed nasal bridg... |
OMIM:617925 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, Optic nerve hypoplasia, Short nose, Hypoplasia of the ant... |
ORPHA:79345 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Wide nasal bridge, Persistence of primary teeth, Scaph... |
ORPHA:37553 |
Tarp Syndrome |
|
Large fontanelles, Abnormal corpus callosum morphology, Short palpebral fissure, Widely patent fo... |
ORPHA:2886 |
Baller-Gerold Syndrome |
|
Brachyturricephaly, Large fontanelles, Brachycephaly, Epicanthus, Frontal bossing |
ORPHA:1225 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Brachycephaly, Craniosynostosis, Downslanted palpebral fissures, Frontal bossing, Thick eyebrow, ... |
OMIM:245600 |
Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Ptosis, Long eyelashes, S-shaped palpebral fissures, Long eyebrows |
OMIM:201180 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Telecanthus, Microcephaly, Brachycephaly |
ORPHA:1236 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Brachycephaly, Ptosis, Cavum septum pellucidum, Spina bifida, Cerebellar hypopl... |
OMIM:274000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Death in infancy, Neonatal death |
OMIM:265120 |
Cowden Syndrome 1 |
|