Gene: Alx1 MGI:104621

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ALX homeobox 1

Synonyms:

Cart1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Alx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Alx1 (2 diseases)
Human diseases predicted to be associated with Alx1 (725 diseases)

The table below shows human diseases associated to Alx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Frontonasal Dysplasia 3		Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow, Brachycephaly	OMIM:613456
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome		Underdeveloped nasal alae, Wide nasal bridge, Bifid nose, Pericallosal lipoma, Hypoplasia of the ...	ORPHA:306542

The table below shows human diseases predicted to be associated to Alx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
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, Rodríguez 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

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