Gene Summary

Name:
cell adhesion molecule-related/down-regulated by oncogenes
Synonyms:
CAM-related/down-regulated by oncogenes,  CDO

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Cdontm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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Viewing: all phenotypes

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 Cdon 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 predicted to be associated to Cdon by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Diastema, Cleft upper lip, Cleft lower lip, Abnormal mandible morphology, Fu... ORPHA:401942
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Short nose, Deep philtrum, Narrow nasal ridge, Everted lower lip ... OMIM:137550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:615937
Holoprosencephaly 5
High palate, Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Deep philtrum, S... OMIM:609637
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Hydrocepha... OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling OMIM:618383
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... OMIM:600348
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Hydrocephalus, Cerebral cortical atrophy, Subcortical cerebral atr... ORPHA:2703
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ventriculomegaly, Hydroce... OMIM:618709
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Depressed nasal ridge, Malar flattening, Wide nasal bridge, Narrow mo... ORPHA:2412
Skraban-Deardorff Syndrome
Widely spaced teeth, Micrognathia, Depressed nasal bridge, Thick upper lip vermilion, Hyperplasia... OMIM:617616
Split Lower Lip
Narrow maxilla, Abnormality of the dentition, Lower lip pit, Abnormality of lower lip OMIM:183400
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Atkin-Flaitz Syndrome
Broad nasal tip, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Thick vermil... ORPHA:1193
Acalvaria
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus ORPHA:945
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency ORPHA:99772
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly OMIM:306990
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Depressed nasal bridge, Cleft upper lip, Holoprosencephaly, Anteverted nares OMIM:612530
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... ORPHA:1248
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Distal Monosomy 7Q36
Micrognathia, Cleft palate, Wide mouth, Holoprosencephaly, Non-midline cleft lip, Bulbous nose ORPHA:1636
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Holoprosencephaly 4
Depressed nasal bridge, Median cleft lip and palate, Depressed nasal tip, Semilobar holoprosencep... OMIM:142946
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Broad nasal tip, Short philtrum, Tented upper lip vermilion, N... ORPHA:166108
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Cleft upper lip, Holoprosencephaly, Solitary median maxillary central incisor,... OMIM:147250
Mohr Syndrome
Agenesis of central incisor, High palate, Cleft palate, Micrognathia, Depressed nasal bridge, Bro... OMIM:252100
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Split-Hand/Foot Malformation 3
Cleft palate, High palate, Narrow mouth, Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Abnormality of the maxilla ORPHA:329252
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Monosomy 18P
Carious teeth, Hypodontia, Cleft palate, Micrognathia, Short philtrum, Holoprosencephaly, Tooth m... ORPHA:1598
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Holoprosencephaly 7
Bilateral cleft lip and palate, Median cleft lip and palate, Solitary median maxillary central in... OMIM:610828
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Maxillary lateral i... OMIM:300602
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... OMIM:600302
Orofacial Cleft 15
Agenesis of lateral incisor, Palate fistula, Bulbous nose, Bilateral cleft lip, Bilateral cleft p... OMIM:616788
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Underdeveloped nasal alae, Agenesis of central incisor, Cleft palate, Pierre-Robin sequence, Olig... ORPHA:364577
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... ORPHA:352682
Hartsfield Syndrome
Non-midline cleft lip, Cleft palate, Depressed nasal bridge, Lobar holoprosencephaly ORPHA:2117
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Maxillary lateral i... OMIM:300431
Dental Anomalies And Short Stature
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... OMIM:601216
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... OMIM:615191
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Aplasia/Hypoplasia of the co... ORPHA:2570
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... ORPHA:2185
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Micrognathia, Cleft palate, Anencephaly, Mandibular prognathia, Holoprosencephaly, W... ORPHA:1908
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Short nose, Aplasia/Hypoplasia involving the nose,... ORPHA:1529
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly, Cerebral atrophy OMIM:300884
Pallister W Syndrome
Agenesis of central incisor, Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Broad uv... OMIM:311450
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle OMIM:220200
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... ORPHA:3352
Holoprosencephaly 3
Cleft palate, Depressed nasal bridge, Holoprosencephaly, Solitary median maxillary central inciso... OMIM:142945
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Cleft palate, Depressed nasal bridge, Broad nasal tip, Holoprosencepha... ORPHA:250999
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Marshall-Smith Syndrome
Irregular dentition, Eclabion, Short philtrum, Depressed nasal bridge, Death in childhood, Short ... OMIM:602535
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Mandibular aplasia, Microglossia, Aplasia/Hypoplasia involving the nose, Absen... ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Smooth philtrum, Bulbous nose, Thin upper lip vermilion, Widely-spaced incisors, Hypoplasia of th... OMIM:618737
Microform Holoprosencephaly
Cleft palate, Midnasal stenosis, Short philtrum, Duodenal atresia, Holoprosencephaly, Solitary me... ORPHA:280200
Otodental Dysplasia
Hypodontia, Pulp calcification, Long philtrum, Taurodontia, Anteverted nares OMIM:166750
Hypomandibular Faciocranial Dysostosis
Micrognathia, Aglossia, Malar flattening, Pursed lips, Hypoplasia of the maxilla OMIM:241310
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614226
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Lambotte Syndrome
Convex nasal ridge, Narrow mouth, Retrognathia, Semilobar holoprosencephaly OMIM:245552
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Depressed nasal ridge, Meningocele, Non-midline cleft lip, Tooth ... ORPHA:2003
Holoprosencephaly 9
Bilateral cleft lip and palate, Cleft palate, Depressed nasal bridge, Short philtrum, Cleft upper... OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplastic frontal sinuses, Short columella, Wide nasal bridge, Bifid nose, Med... OMIM:136760
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Underdeveloped nasal alae, Micrognathia, Narr... OMIM:257850
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly OMIM:303350
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Micrognathia, Cleft palate, Convex nasal ridge, Midgut mal... ORPHA:2409
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
W Syndrome
Broad nasal tip, Depressed nasal bridge, Upper lip pit, Broad uvula, Agenesis of maxillary centra... ORPHA:2804
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hydrocephalu... OMIM:619302
Nance-Horan Syndrome
Prominent nose, Supernumerary maxillary incisor, Diastema, Prominent nasal bridge, Screwdriver-sh... OMIM:302350
Agnathia-Otocephaly Complex
Micrognathia, Cleft palate, Aglossia, Holoprosencephaly, Mandibular aplasia, Microglossia, Narrow... OMIM:202650
3Mc Syndrome 2
Cleft palate, Cleft upper lip, Prominent nasal bridge, Wide nasal bridge, Downturned corners of m... OMIM:265050
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Malar flattening, Wide nasal bridge, Narrow mouth, Hypopla... ORPHA:261295
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Microcephaly OMIM:617281
Nance-Horan Syndrome
Prominent nose, Mandibular prognathia, Supernumerary tooth, Prominent nasal bridge, Abnormality o... ORPHA:627
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morpho... OMIM:613153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly OMIM:619470
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Oral cleft OMIM:611638
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:610680
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Wide nasal bridge, Open mouth, Dental crowding, Aqueduc... OMIM:600906
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Cleft palate, Lobar holoprosencephaly, Long philtrum, Velopharyngeal insufficien... OMIM:614701
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Endocrine-Cerebroosteodysplasia
Micrognathia, Cleft palate, Cleft upper lip, Holoprosencephaly, Malar flattening, Wide nasal brid... OMIM:612651
16P13.11 Microdeletion Syndrome
Smooth philtrum, Cleft palate, Wide mouth, Depressed nasal bridge, Cleft upper lip, Holoprosencep... ORPHA:261236
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly ORPHA:93274
Temtamy Preaxial Brachydactyly Syndrome
Hypodontia, Micrognathia, Microdontia, Oligodontia, Talon cusp, Tooth malposition, Short nose, Wi... ORPHA:363417
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Dental crowding, Glossoptosis, Delayed eruption of primary teeth, Eve... OMIM:616367
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Hydrocephalus, Megalencephaly, Mitral regurgitation ORPHA:83473
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... ORPHA:1528
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Death in childhood, CSF lymphocytic pleiocytosis, Ventriculomegaly, Progr... OMIM:610333
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla, Thin upper lip vermilion OMIM:618587
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Conical mandibular incisor, Discolored lateral incisors, Oligodontia, Widely-spaced incisors OMIM:601668
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Holoprosencephaly 2
Aplasia of the nose, Median cleft lip and palate, Holoprosencephaly, Solitary median maxillary ce... OMIM:157170
Keipert Syndrome
Depressed nasal bridge, Prominent nasal bridge, Tented upper lip vermilion, Exaggerated cupid's b... ORPHA:2662
Lujan-Fryns Syndrome
Micrognathia, High palate, Short philtrum, Prominent nasal bridge, Abnormality of the dentition, ... ORPHA:776
Fried Syndrome
Hydrocephalus, Cerebral calcification ORPHA:85335
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Underdeveloped nasal alae, High palate, Broad nasal tip, Wide nasal bridge, Tented upper lip verm... ORPHA:438216
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
49,Xxxxy Syndrome
Carious teeth, Depressed nasal ridge, Arrhinencephaly, Cleft palate, Depressed nasal bridge, Open... ORPHA:96264
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Convex nasal ridge, Malar flattening, Hydrocephalus, Hypoplasia of th... ORPHA:93262
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Depressed nasal bridge, Supernumerary tooth, Thin vermili... OMIM:617412
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Distal Monosomy 13Q
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly ORPHA:1590
Cardioacrofacial Dysplasia 1
Diastema, Short philtrum, Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla OMIM:619142
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Micrognathia, Oligodontia, Supernumerary tooth, Malar flattening, Unilateral... ORPHA:1787
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Pettigrew Syndrome
Dandy-Walker malformation, Cerebral calcification, Ventriculomegaly, Hydrocephalus, Abnormality o... OMIM:304340
Trichorhinophalangeal Syndrome, Type Iii
Underdeveloped nasal alae, Smooth philtrum, Long philtrum, Supernumerary tooth, Thin upper lip ve... OMIM:190351
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Absent septum pellucidum OMIM:601357
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Convex nas... OMIM:216550
Triploidy
Meningocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Holoprosencephaly, Intestinal ... ORPHA:3376
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate, Prominent nasal bridge ORPHA:85279
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Thin vermilion border, Prominent nasal bridge, Delayed eruption of tee... OMIM:601812
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding,... OMIM:600907
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Supernumerary tooth, Wide nasal bridge, Deep philtrum,... ORPHA:502
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Wide nasal bridge, Delayed eruption of teeth, Evert... ORPHA:915
Rapp-Hodgkin Syndrome
Underdeveloped nasal alae, Hypodontia, Cleft palate, Narrow nose, Microdontia, Depressed nasal br... OMIM:129400
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Isolated Exencephaly
Holoprosencephaly, Depressed nasal bridge, Abnormality of facial skeleton, Hypoplasia of the fron... ORPHA:563612
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia OMIM:615502
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Short philtrum, Microdontia, Mandibular prognathia, Wide nasal bridge, Hydrocephalus,... OMIM:601499
Zimmermann-Laband Syndrome
Hypodontia, High palate, Cleft palate, Wide mouth, Micrognathia, Macroglossia, Wide nose, Supernu... ORPHA:3473
Ring Chromosome 21 Syndrome
Holoprosencephaly, Microcephaly ORPHA:1445
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Bulbous nose OMIM:258850
Axenfeld-Rieger Syndrome
Hypodontia, Depressed nasal bridge, Microdontia, Wide nasal bridge, Everted lower lip vermilion, ... ORPHA:782
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Mi... ORPHA:2751
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus OMIM:258320
Faciocardiorenal Syndrome
Hypodontia, Cleft palate, Micrognathia, Hypoplastic philtrum, Malar flattening, Wide nasal bridge OMIM:227280
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Pachygyria, Hydrocep... OMIM:253800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Megalencephaly, Ventriculomegaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria OMIM:602501
Craniolenticulosutural Dysplasia
Carious teeth, High palate, Smooth philtrum, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Chand Syndrome
Cleft palate, Depressed nasal bridge, Bifid tongue, Abnormal oral frenulum morphology, Commissura... ORPHA:1401
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pfeiffer Syndrome
High palate, Depressed nasal bridge, Mandibular prognathia, Short nose, Hydrocephalus, Choanal st... OMIM:101600
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Thick lower lip vermilion, Micrognathia, Clef... OMIM:154780
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Wide nasal base, Delayed eruption of teeth, Narro... OMIM:264475
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia,... OMIM:615287
Crouzon Disease
Convex nasal ridge, Narrow palate, Hydrocephalus, Hypoplasia of the maxilla, Choanal atresia ORPHA:207
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral atrophy ORPHA:397951
Achondroplasia
Hydrocephalus, Megalencephaly OMIM:100800
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Pallister-Hall Syndrome
Cleft palate, Depressed nasal bridge, Cleft upper lip, Holoprosencephaly, Neonatal death, Microgl... OMIM:146510
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Thick vermilion border, Anteverted nares, Hypoplasia of the maxilla, Microretrogna... ORPHA:228396
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Holoprosencephaly, Solitary median maxillary central incisor, Hypoplasia of the zygo... ORPHA:556955
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Microdontia, Microglossia, Prominent nasal bridge, Narrow mouth, Hypop... ORPHA:1307
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus c... OMIM:225790
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... OMIM:170390
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, High palate, Short philtrum, Long nose, Prominent nasal bridge, Deep philtrum, Narr... OMIM:309520
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Neonatal death, Malar flattening, Wide nasal bridge, Narrow mouth OMIM:224410
Acrodysostosis
Depressed nasal ridge, Depressed nasal bridge, Open bite, Mandibular prognathia, Short nose, Wide... ORPHA:950
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis OMIM:307000
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Wide mouth, Hypoplasia of the zygomatic b... ORPHA:245
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Gray matte... OMIM:615219
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalu... ORPHA:272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Hypoplasia of the maxilla, High palate, Wide nasal bridge OMIM:218000
Holoprosencephaly 13, X-Linked
Micrognathia, Cleft palate, Aplasia of the nose, Duodenal atresia, Submucous cleft hard palate, S... OMIM:301043
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, High palate, Narrow nose, Long nose, Short nose, Intestinal malrotation, Anal atre... OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Bulbous nose, Prominence o... OMIM:614437
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Convex nasal ridge, Macroglossia, Hypoplasia of the zy... ORPHA:1798
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Bloom Syndrome
Prominent nose, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incis... OMIM:210900
Robin Sequence With Cleft Mandible And Limb Anomalies
Prominent nose, High palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Aplasia of the epi... OMIM:268305
Holoprosencephaly
Depressed nasal ridge, Median cleft lip and palate, Hyposmia, Holoprosencephaly, Solitary median ... ORPHA:2162
Marshall Syndrome
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Depressed nasal bridge, Long ... ORPHA:560
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Dental crowding OMIM:101120
Trisomy 18
Cleft palate, Anencephaly, Holoprosencephaly, Short nose, Esophageal atresia, Anal atresia, Narro... ORPHA:3380
Atelosteogenesis, Type Iii
Micrognathia, Cleft palate, Depressed nasal bridge, Malar flattening, Hypoplasia of the maxilla OMIM:108721
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, High palate, Long upper lip, Long philtrum, Supernumerary tooth, Bulbous nose, Abno... ORPHA:77258
Nablus Mask-Like Facial Syndrome
High palate, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short nose, Wide nasal bridg... OMIM:608156
Halperin-Birk Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly, Death in childhood, Semilobar holopr... OMIM:618651
Aicardi Syndrome
Cleft palate, Cleft upper lip, Spina bifida, Hiatus hernia, Anteverted nares, Prominence of the p... OMIM:304050
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Microphthalmia With Limb Anomalies
Micrognathia, High palate, Cleft palate, Depressed nasal bridge, Arrhinencephaly, Long philtrum, ... ORPHA:1106
Hartsfield Syndrome
Cleft palate, Lobar holoprosencephaly, Cleft upper lip, Wide nose, Hypoplasia of the frontal bone OMIM:615465
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Cleft palate, Accessory oral frenulum, Malar flattening, Short nose, Hypoplasia of ... ORPHA:79113
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Micrognathia, Cleft palate, Holoprosencephaly, Intestinal malrotation, Anal atresia, Hypoplasia o... ORPHA:2166
Pde4D Haploinsufficiency Syndrome
Prominent nose, Micrognathia, Prominent nasal tip, Depressed nasal bridge, Short philtrum, Long p... ORPHA:439822
Coffin-Lowry Syndrome
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Depressed nasal bridge, ... ORPHA:192
Aicardi Syndrome
Cleft palate, Short philtrum, Cleft upper lip, Malabsorption, Hiatus hernia, Intestinal polyposis... ORPHA:50
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, A... ORPHA:2919
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Smooth philtrum, Depressed nasal bridge, Rectal prolapse, Oligodontia, Gingival ... OMIM:235510
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Micrognathia, High palate, Depressed nasal bridge, Wide mouth, U-Shape... OMIM:309580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Megalencephaly, Mitral regurgitation, Thick corpus callosum, Pachygyria, Hydrocephalus, Polymicro... OMIM:603387
Microcephaly-Capillary Malformation Syndrome
Short nose, Hypoplasia of the maxilla, Wide nose, Cleft palate OMIM:614261
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hydrocephalus, Congestive heart failure, Death in childhood OMIM:269920
Cleidocranial Dysplasia
Carious teeth, High, narrow palate, Sinusitis, Cleft palate, Micrognathia, Depressed nasal bridge... ORPHA:1452
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Microcephaly OMIM:264480
Congenital Toxoplasmosis
Cerebral calcification, Hydrocephalus, Microcephaly, Ventriculomegaly ORPHA:858
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, High palate, Short lingual frenulum, Broad nasal tip, Epistaxis, Recur... ORPHA:293939
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Long philtrum, Submucous cleft hard palate, Wide nasal bridge, Abnormality... ORPHA:178303
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:1516
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina... ORPHA:63259
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Widely spaced teeth, Underdeveloped nasal alae, Hypodontia, Micrognathia, Prominent nose, Microdo... ORPHA:90024
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Depressed nasal bridge, Supernumerary tooth, Malar flattening, Thin vermilion border, Thick vermi... ORPHA:86818
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Hyperplasia of the maxilla, Dental crowding, Exaggerated median tongue furrow ORPHA:313892
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Death in infancy, Hydrocephalus OMIM:249400
Central Precocious Puberty
Hypothalamic hamartoma, Hydrocephalus, Increased circulating gonadotropin level ORPHA:759
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Abnormal oral mucosa ... ORPHA:2673
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Talon cusp, Deep philtrum OMIM:605282
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Death in childhood, Hypoplastic hippocampus, Thin corpus... OMIM:619517
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... OMIM:220220
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morp... OMIM:618476
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:380
Jacobsen Syndrome
Pyloric stenosis, Micrognathia, Depressed nasal bridge, U-Shaped upper lip vermilion, Holoprosenc... OMIM:147791
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Supernumerary tooth, Hypoplasia of the zygomatic bone ORPHA:3145
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Abnormal cerebral white matter morphology OMIM:600991
Steinfeld Syndrome
Holoprosencephaly, Aplasia of the nose, Bifid uvula, Median cleft lip and palate OMIM:184705
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Retrognathia OMIM:616462
Orofaciodigital Syndrome I
Carious teeth, Underdeveloped nasal alae, High palate, Cleft palate, Alveolar ridge overgrowth, M... OMIM:311200
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Hypoplasia of the nasal bone, Midline defect of t... ORPHA:1134
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Neonatal death, Stillbirth, Narrow nasal ridge, Bulbous nose, Choanal stenosis, ... OMIM:236500
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Arachnoid Cyst
Holoprosencephaly, Posterior fossa cyst at the fourth ventricle, Mild malformation of cortical de... ORPHA:2356
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly ORPHA:398189
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Death in infancy, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Ring Chromosome 7 Syndrome
Cleft palate, Short philtrum, Narrow naris, Mandibular prognathia, Holoprosencephaly, Short nose,... ORPHA:1449
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Wide nasal base, Delayed eruption of teet... ORPHA:2980
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Van Maldergem Syndrome 1
Irregular dentition, High palate, Micrognathia, Anteriorly placed anus, Malar flattening, Wide na... OMIM:601390
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Hydrocephalus, Ventriculomegaly ORPHA:163961
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Proboscis Lateralis
Abnormality of ethmoid bone, High palate, Agenesis of canine, Aplasia/Hypoplasia of the maxilla, ... ORPHA:141099
Pycnodysostosis
Carious teeth, Prominent nose, Hypodontia, High palate, Delayed eruption of permanent teeth, Micr... ORPHA:763
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge OMIM:167730
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ventricle, Cardio... ORPHA:370959
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly ORPHA:2163
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermil... ORPHA:1515
Van Maldergem Syndrome 2
Irregular dentition, High palate, Micrognathia, Malar flattening, Wide nasal bridge, Tented upper... OMIM:615546
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, High palate, Smooth philtrum, Diastema, Mandibular prognathia, Furrowed tongue, Pro... OMIM:300534
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Hypoplasia of the maxilla, Micrognathia, Narrow mouth OMIM:613804
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hamartoma of tongue, Median cleft lip and palate, Holoprosencephaly, Neonatal death,... OMIM:269860
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hyperglycorrhachia, Hypertension, ST segment depression, Prolonged ... ORPHA:90065
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Lobar holoprosencephaly, Periventricular heterotopia, Simplified... ORPHA:468631
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Short philtrum, Mandibular prognathia, Malar ... ORPHA:364028
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Abnormal CSF pyruvate family ami... ORPHA:79243
Apert Syndrome
Cleft palate, Depressed nasal bridge, Convex nasal ridge, Ectopic anus, Mandibular prognathia, Bi... ORPHA:87
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Hypodontia, Cleft palate, Cleft upper lip, Wide nasal bridge, Conical tooth,... OMIM:106260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Progressive microcephaly, Hydrocephalus, Agyria, Type II lissencephaly, Agenesis o... OMIM:615249
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Supernumerary tooth, Microdontia, Oligodontia OMIM:191482
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Van Den Ende-Gupta Syndrome
High, narrow palate, Underdeveloped nasal alae, High palate, Cleft palate, Narrow nose, Depressed... OMIM:600920
Elsahy-Waters Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Mandibular prognathia, Anteriorly placed a... OMIM:211380
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections... ORPHA:2399
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Angelman Syndrome
Widely spaced teeth, Wide mouth, Mandibular prognathia, Macroglossia, Drooling, Hypoplasia of the... OMIM:105830
Krabbe Disease
Hydrocephalus, Diffuse cerebral atrophy, Increased CSF protein OMIM:245200
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Dilation of lateral ventricles, Spina bifida occulta, Agenesis of corp... OMIM:618736
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypodontia, Dens in dente, Mandibular prognathia, Bifid uvula, Enamel hypoplasia, Macrodontia OMIM:263540
Acitretin/Etretinate Embryopathy
Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Median cleft palate, Anteverted nar... ORPHA:40366
Alg2-Cdg
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Micrognathia, Cleft palate, Aganglionic megacolon, Wide mouth, Long philtrum, H... ORPHA:818
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, A... ORPHA:60040
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, High palate, Underdeveloped nasal alae, Narrow nose, Supernume... OMIM:234100
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Micrognathia, Cleft palate, Duodenal atresia, Stomach cancer, Holoprosence... ORPHA:1052
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short philtrum, Prominent nasal bridge, Wide nasal bridge, Bulbous nose, E... OMIM:609460
Treacher-Collins Syndrome
Cleft palate, Abnormal dental enamel morphology, Malar flattening, Hypoplasia of the maxilla, Cho... ORPHA:861
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Ventriculomegaly OMIM:616362
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Hypodontia, Everted upper lip vermilion, Depressed nasal bridge, Micro... OMIM:305100
Cowden Syndrome 5
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hypoplasia of the ... OMIM:615108
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hypoplastic philtrum, Bulbous nose OMIM:616682
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Holoprosencephaly, Colpocephaly, Absent septum pellucidum, Polymicrog... OMIM:618820
Andersen-Tawil Syndrome
Micrognathia, High palate, Oligodontia, Wide nasal bridge, Persistence of primary teeth, Abnormal... ORPHA:37553
Subaortic Stenosis--Short Stature Syndrome
Diastema, Short nose, Malar flattening, Wide nasal bridge, Narrow mouth, Anteverted nares, Short ... OMIM:271960
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Micrognathia, Smooth philtrum, Cleft palate, Long philtrum, Hypoplastic philtrum, Short nose, Thi... OMIM:218649
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Absence of Stensen duct, Cleft palate, Broad nasal tip, Microdontia, Oligodontia, ... OMIM:129900
Aarskog-Scott Syndrome
Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Cleft upper lip, Short nose, ... OMIM:305400
Martsolf Syndrome 1
Micrognathia, High palate, Depressed nasal bridge, Short philtrum, Broad nasal tip, Tooth malposi... OMIM:212720
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Xerostomia, Abnormality of dental morphology, Thick vermilion border, Anteverted nares... ORPHA:238468
Kagami-Ogata Syndrome
Micrognathia, Depressed nasal bridge, Long philtrum, Retrognathia, Anteverted nares, Hypoplasia o... OMIM:608149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Hypoplasia of th... OMIM:616538
Martsolf Syndrome 2
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia, Ventriculomegaly OMIM:175700
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Lissencephaly, Ventriculomega... OMIM:614643
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Bradycardia, Decreased CSF glutamine concentration, Dilation ... OMIM:610015
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... OMIM:617751
Walker-Warburg Syndrome
Dandy-Walker malformation, Abnormal cortical gyration, Abnormality of neuronal migration, Absent ... ORPHA:899
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Aplasia of the nose, Median cleft lip, Oral cleft ORPHA:3186
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Widely spaced teeth, Smooth philtrum, Cleft palate, Short philtrum, Narrow nose, Solitary median ... OMIM:301044
Cowden Syndrome 6
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hypoplasia of the ... OMIM:615109
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Smooth philtrum, Long philtrum, Thin vermilion border, Bulbous nose, Anteverted nare... ORPHA:481152
Fetal Gaucher Disease
High palate, Depressed nasal bridge, Death in infancy, Neonatal death, Stillbirth, Anteverted nares ORPHA:85212
D-2-Hydroxyglutaric Aciduria 1
Multifocal cerebral white matter abnormalities, Aortic regurgitation, Subependymal cysts, Cardiom... OMIM:600721
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Micrognathia, Alveolar ridge overgrowth, Long... ORPHA:444072
Hypomandibular Faciocranial Dysostosis
Cleft palate, Death in infancy, Maxillozygomatic hypoplasia, Aplasia/Hypoplasia of the tongue, Sh... ORPHA:1790
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:249630
Pseudoleprechaunism Syndrome, Patterson Type
Prominent nose, Abnormality of ethmoid bone, Hyperplasia of the maxilla, Abnormal mandible condyl... ORPHA:2976
Monosomy 13Q14
Holoprosencephaly, Wide nasal bridge, Micrognathia, Prominent nasal bridge ORPHA:1587
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Acrodysostosis 1 With Or Without Hormone Resistance
Hypodontia, Broad nasal tip, Depressed nasal bridge, Mandibular prognathia, Delayed eruption of t... OMIM:101800
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Hydrocephalus... ORPHA:398124
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Micrognathia, Cleft palate, Depressed nasal bridge, Aganglionic megacolon, Long... OMIM:270400
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Umbilical hernia, Abnormality of the septum pellucidum, Cerebral atrophy ORPHA:171839
Faciocardiomelic Syndrome
Micrognathia, Depressed nasal bridge, Wide mouth, Long philtrum, Hyperplasia of the maxilla, Dent... OMIM:612731
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla, Anodontia OMIM:211370
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly OMIM:300558
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Wide nose, Cleft ala nasi, Narrow nasal base, Hypoplasia of the maxilla ORPHA:3044
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Ventriculomegaly, Hydroce... ORPHA:1136
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Megalencephaly, Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure, Hypopla... OMIM:616482
Orofaciodigital Syndrome Xiv
Micrognathia, Cleft palate, Hamartoma of tongue, Holoprosencephaly, Supernumerary tooth, Aplasia ... OMIM:615948
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Dental crowding OMIM:123500
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Depressed nasal bridge, Mandibu... OMIM:259775
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Hydrocephalus OMIM:187600
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Oligodontia ORPHA:2095
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, Underdeveloped nasal alae, Convex nasal ridge, Supernumerary t... ORPHA:2108
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus, Umbilical hernia ORPHA:2181
Cohen Syndrome
High, narrow palate, Micrognathia, Short philtrum, Aplasia/Hypoplasia of the tongue, Gingival ove... ORPHA:193
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, T2 hypointense basal ganglia, Subdural hemorrhage, Abnormal caudate ... ORPHA:25
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the f... OMIM:220219
Autosomal Recessive Robinow Syndrome
Death in infancy, Short nose, Anteverted nares, Hypodontia, Micrognathia, Depressed nasal bridge,... ORPHA:1507
Frontorhiny
Cleft palate, Hypoplastic frontal sinuses, Midline nasal groove, Bifid tongue, Hypoplasia of the ... ORPHA:391474
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth, Supernumerary tooth, Abnormality of dental morphology, En... ORPHA:69087
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Anencephaly, Hydrocephalus, Hypoplasia of the corpus call... OMIM:611134
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis OMIM:231070
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Simplified gyral pattern, Primary microcephaly, Hypoplasia of t... ORPHA:284417
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Pulmonic stenosis OMIM:615280
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular tachycardia, Cardiac arrest, Dilation of lateral ventricles, ... OMIM:300952
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Hydrocephalus, Lissencephaly, Umbilical h... OMIM:612938
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Death in infancy, Ventriculomegaly, Hydrocephalus, Cerebral atrophy, ... OMIM:614576
Charge Syndrome
Cleft palate, Depressed nasal bridge, Cleft upper lip, Holoprosencephaly, Hypoplasia of the zygom... ORPHA:138
Cerebral Visual Impairment
Intracranial hemorrhage, Abnormal cerebral morphology, Hydrocephalus, Abnormal cerebral white mat... ORPHA:447788
Branchioskeletogenital Syndrome
Carious teeth, Premature loss of teeth, Depressed nasal bridge, Short philtrum, Broad nasal tip, ... ORPHA:1299
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, High palate, Narrow palate, Wide anterior fontanel, Hydrocephalus, Dental malocclus... OMIM:182212
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Long philtrum OMIM:613805
Saethre-Chotzen Syndrome
Cleft palate, Depressed nasal bridge, Convex nasal ridge, Open bite, Prominent nasal bridge, Narr... ORPHA:794
Temple Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus ORPHA:254516
Microtia-Anotia
Holoprosencephaly OMIM:600674
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Depressed nasal bridge, Microdontia, Mandibular prognathia, Supernumer... OMIM:268400
Bresek Syndrome
Neonatal death, Hydrocephalus, Microcephaly ORPHA:85284
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Abnormality of primary molar morphology, Micrognathia, Gingival bleeding, Recurrent m... OMIM:225410
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Gray matter heterotop... OMIM:617822
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Carpenter Syndrome 1
Micrognathia, High palate, Depressed nasal bridge, Malar flattening, Persistence of primary teeth... OMIM:201000
Autosomal Dominant Robinow Syndrome
High, narrow palate, Hypodontia, Micrognathia, Depressed nasal bridge, Short philtrum, Open bite,... ORPHA:3107
Temple Syndrome
Hydrocephalus OMIM:616222
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Cleft palate, Wide nasal bridge, Bifid nose, Hypoplasia of the frontal... ORPHA:306542
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Cerebral calcification, Cardiomyopathy, Heart block, Ventricul... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Cerebral calcification, Cardiomyopathy, Pachygyria, Hydrocepha... ORPHA:157
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Conical incisor, Micrognathia, Long philtrum, Maxillary lateral incisor microdontia, Thin vermili... ORPHA:73223
Aase-Smith Syndrome I
Dandy-Walker malformation, Death in infancy, Hydrocephalus OMIM:147800
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Mandibular prognathia, Gingival cleft, Thin vermilion bord... ORPHA:2588
Doors Syndrome
Arrhinencephaly, Cleft palate, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Broad al... ORPHA:79500
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Cleft palate, Short philtrum ORPHA:96129
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus, Congestive heart failure ORPHA:163596
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Non-Specific Syndromic Intellectual Disability
Micrognathia, High palate, Smooth philtrum, Depressed nasal bridge, Long philtrum, Thin vermilion... ORPHA:528084
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Wide nasal bridge, Delaye... OMIM:157980
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Septo-optic dysplasia, Holoprosencephaly, Decreased response to growth ... ORPHA:95494
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Hydroce... OMIM:609757
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Mend Syndrome
Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus OMIM:300960
Tenorio Syndrome
Syncope, Raynaud phenomenon, Ventriculomegaly, Cavum septum pellucidum, Hydrocephalus, Cerebral c... OMIM:616260
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Cowden Syndrome 1
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hypoplasia of the ... OMIM:158350
Hennekam Syndrome
Pyloric stenosis, Depressed nasal bridge, Short philtrum, Supernumerary tooth, Gingival overgrowt... ORPHA:2136
Microtia
Holoprosencephaly ORPHA:83463
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Pulmonic stenosis, Hydrocephalus, Decreased response to growth hormone... OMIM:220210
Cerebrofacioarticular Syndrome
Irregular dentition, Micrognathia, Anteriorly placed anus, Wide nasal bridge, Bilateral choanal a... ORPHA:314679
Hydrolethalus
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Normal pressure hydroceph... ORPHA:300570
Desmosterolosis
Abnormal cortical gyration, Abnormality of neuronal migration, Absent septum pellucidum, Ventricu... ORPHA:35107
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Methylcobalamin Deficiency Type Cble
Hypertension, Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology, Microce... ORPHA:2169
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micrognathia, Neonatal death, Wide nasal bridge, Narrow mouth, Anteverted nares OMIM:618810
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Thick lower lip vermilion, Long philtrum, Wide nose, Bulbous nose, Narrow mouth, Anteverted nares... ORPHA:314647
Distal Monosomy 12Q
Pyloric stenosis, High, narrow palate, Micrognathia, Smooth philtrum, Duodenal atresia, Long phil... ORPHA:96149
Ehlers-Danlos Syndrome, Classic Type, 1
Narrow maxilla, Irregularly spaced teeth, Recurrent sinusitis, Bowel diverticulosis OMIM:130000
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... ORPHA:1647
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Impaired mastication ORPHA:466722
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Isolated Cleft Lip
Hypodontia, Supernumerary maxillary incisor, Velopharyngeal insufficiency, Non-midline cleft lip,... ORPHA:199302
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... ORPHA:208447
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Ventriculomegaly, Pachygyria, Hydrocephalus, Type II lissencephaly, Agenesis of... OMIM:613150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Boomerang Dysplasia
Underdeveloped nasal alae, Hypoplastic nasal septum, Wide nasal bridge, Neonatal death OMIM:112310
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Meckel Syndrome
Depressed nasal ridge, Micrognathia, Cleft palate, Anencephaly, Lobar holoprosencephaly, Aplasia/... ORPHA:564
Gorlin Syndrome
Hydrocephalus, Cerebral calcification ORPHA:377
Periventricular Nodular Heterotopia 9
Hypoplastic philtrum, Everted upper lip vermilion, High palate, Gingival overgrowth OMIM:618918
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly ORPHA:238769
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhag... ORPHA:97339
Weill-Marchesani Syndrome 1