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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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