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Gene: Wwp2 MGI:1914144

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
WW domain containing E3 ubiquitin protein ligase 2
Synonyms:
1300010O06Rik,  AIP2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wwp2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Wwp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar ... ORPHA:217340
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte... ORPHA:261120
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve... ORPHA:1695
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... ORPHA:1193
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Serrated incisors, Thin vermilion border, Short phi... OMIM:272440
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Rubinstein-Taybi Syndrome 2
Micrognathia, Prominent nose, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High... OMIM:613684
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of... OMIM:618729
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... ORPHA:2429
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, High palate, Micrognathia ORPHA:2598
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick... OMIM:618506
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... OMIM:619736
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Broad nasal tip, High, narrow pala... ORPHA:166108
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... OMIM:617752
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth OMIM:617507
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth OMIM:300143
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, P... OMIM:300602
Perlman Syndrome
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... ORPHA:2849
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i... OMIM:619719
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short nose, Abnormal palate morphology, Micrognathia ORPHA:1495
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S... OMIM:619356
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... OMIM:601224
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T... OMIM:249620
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... OMIM:302350
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Lon... OMIM:613544
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
17P13.3 Microduplication Syndrome
Wide nose, High palate, Short nose, Narrow mouth ORPHA:217385
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum ORPHA:969
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal dental morpholo... ORPHA:1716
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... OMIM:613604
Pterygium Colli, Isolated
Short nose OMIM:177990
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum OMIM:618577
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum... OMIM:617991
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Short nose, Retrognathia, Dentinogenesis imper... ORPHA:166272
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... OMIM:602342
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Miller-Dieker Syndrome
Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose ORPHA:93328
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... ORPHA:1895
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Short nose, Smooth philtrum OMIM:615419
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Long nose, Underdeveloped nasal alae, H... OMIM:257850
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,... ORPHA:2701
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... ORPHA:2409
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... OMIM:618067
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum ORPHA:90653
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Achondrogenesis
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:932
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Micrognathia OMIM:615042
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... OMIM:300558
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae... ORPHA:438216
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... OMIM:619854
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Non-Distal Duplication 13Q
Micrognathia, Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip... ORPHA:1702
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Short columella, Thin vermilion border, L... ORPHA:171839
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental... ORPHA:1327
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge ORPHA:2145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Fibrochondrogenesis 2
Malar flattening, Short nose, Anteverted nares, Micrognathia OMIM:614524
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ... ORPHA:391372
Trigonocephaly 1
High, narrow palate, Short nose, Wide nasal bridge, Long philtrum OMIM:190440
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... ORPHA:1458
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Micrognathia ORPHA:2547
Achondrogenesis Type 1B
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:93298
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Short philtrum, Open mouth ORPHA:228384
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglossi... OMIM:242860
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Sh... OMIM:620250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Retrognathia, Micrognathia ORPHA:163961
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglossia, Short nose OMIM:241800
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Malar flattening, Short nose OMIM:614613
Tetrasomy 18P
Narrow mouth, Short nose, Thin vermilion border, Long philtrum ORPHA:3307
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo... ORPHA:261144
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose OMIM:614078
Achondrogenesis Type 1A
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:93299
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Periventricular Nodular Heterotopia 7
Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Pierre-Robin sequence, Cleft ... OMIM:617201
Fetal Trimethadione Syndrome
High palate, Short nose, Depressed nasal bridge, Micrognathia ORPHA:1913
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,... ORPHA:1295
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
Harel-Yoon Syndrome
Mandibular prognathia, Short nose, Micrognathia OMIM:617183
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver... ORPHA:1699
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Wide nasal bridge, Cleft palate, Lon... OMIM:615583
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi... ORPHA:1915
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Long philtrum, Short nose, S... ORPHA:401935
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Toluene Embryopathy
Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum ORPHA:1920
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... OMIM:616420
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:560
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia... OMIM:616331
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Short nose ORPHA:93329
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Cohen Syndrome
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... OMIM:216550
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... OMIM:617865
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose ORPHA:1914
Peho Syndrome
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth OMIM:260565
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,... OMIM:618529
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... OMIM:101600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... OMIM:154780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Micrognathia, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Thin... OMIM:613026
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose OMIM:616854
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corner... ORPHA:369891
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... ORPHA:79113
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... OMIM:617877
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Micrognathia, Bulbous nose, Wi... OMIM:617061
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ... OMIM:614105
Al-Raqad Syndrome
Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Micrognathia, Hypoplasia of teeth, Downtur... ORPHA:391408
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Short nose ORPHA:163966
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Wide nasal bridge, Orofacial cleft, ... OMIM:243310
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath... ORPHA:561
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m... ORPHA:439822
Bartsocas-Papas Syndrome
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose ORPHA:1234
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth... ORPHA:163649
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Short nose OMIM:610015
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip OMIM:613885
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose, Smooth philtrum OMIM:618828
Acrofacial Dysostosis, Catania Type
Microretrognathia, Smooth philtrum, Abnormality of the dentition, Carious teeth, Tooth agenesis, ... ORPHA:1786
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela... ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Short nose, Depressed nasal bridge, Micrognathia OMIM:617802
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Malar flatte... ORPHA:485405
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Underdeveloped nasal alae, Cleft upper lip, Wi... ORPHA:894
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downt... OMIM:618571
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge OMIM:218000
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Femoral-Facial Syndrome
Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Long philtrum, Short nose ORPHA:1988
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smooth philtrum OMIM:601853
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, High palate... OMIM:619383
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... OMIM:618316
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose OMIM:615539
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Long philtrum OMIM:300887
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Short nose, Micrognathia ORPHA:496790
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Bifid nasal tip,... OMIM:252100
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg... ORPHA:261211
Distal Duplication 5Q
Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Short n... ORPHA:96097
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ... ORPHA:83
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... OMIM:164200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle... OMIM:239300
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr... OMIM:156200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... OMIM:618430
Poikiloderma With Neutropenia
Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Recurrent sinusit... OMIM:604173
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... OMIM:613038
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge ORPHA:210548
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... ORPHA:1358
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Long nose, Carious teeth, Downturned corners of mouth, Thin ver... OMIM:617602
Cadds
Short nose, Micrognathia ORPHA:369942
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... ORPHA:314655
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Prominent nasal bridge, Short nose OMIM:613870
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Oligodontia, ... ORPHA:2315
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Submucous cleft hard pa... OMIM:614701
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose OMIM:170100
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Short nose ORPHA:284169
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S... OMIM:610536
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Depressed nasal bridge, Wide nasal bridge, Gingival overgrowth, Narrow... OMIM:235510
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi... OMIM:616788
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, High palate, Narrow mouth, Malar flattening, Short nose, Long ph... OMIM:219200
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum ORPHA:2983
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth OMIM:234050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Microgna... ORPHA:251028
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under... OMIM:615485
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... OMIM:616430
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Short nose, Depressed nasal bridge, Long philtrum OMIM:608776
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate, Wide nose, Short nose OMIM:614261
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygoma... ORPHA:1812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Hypoplasia of teeth, ... OMIM:608612
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera... OMIM:619859
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal... ORPHA:363659
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat... OMIM:206920
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Open mouth, Wide mouth, Long philtrum, Short no... OMIM:616638
Raine Syndrome
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Protru... OMIM:259775
Down Syndrome
Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio... ORPHA:870
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p... OMIM:619833
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border ORPHA:1185
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flatten... ORPHA:3258
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appeara... OMIM:193700
Fetal Hydantoin Syndrome
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose ORPHA:1912
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... OMIM:618590
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup... OMIM:211380
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Short nose OMIM:613320
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... OMIM:305400
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... OMIM:300912
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Short nose OMIM:616897
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Micrognathia ORPHA:3078
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Malar flattening, S... OMIM:251450
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Prominent nose, Abnormality of the dent... ORPHA:363528
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge, Alveolar ridge overgrowth... ORPHA:444072
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac... OMIM:311300
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... OMIM:608156
Ruvalcaba Syndrome
Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge ORPHA:3121
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Median cleft lip, Anteverted nares, Abnormal dental e... ORPHA:2710
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone OMIM:118650
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Wide nasal bridge, Short columella, Short philtrum, Hyp... OMIM:613603
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,... OMIM:605627
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose ORPHA:1642
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na... ORPHA:357001
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge ORPHA:2143
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... OMIM:615803
Peho Syndrome
Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Malar flattenin... ORPHA:2836
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned... OMIM:615398
Micro Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Short nose ORPHA:2510
C Syndrome
Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide mouth, High pala... OMIM:211750
Rhombencephalosynapsis
Microretrognathia, Short nose, Anteverted nares, Narrow mouth ORPHA:59315
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Hypodontia ORPHA:544503
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Dental malocclusion, Wide nasa... OMIM:616894
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Pr... OMIM:301040
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate, Long philt... OMIM:300749
W Syndrome
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... ORPHA:2804
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth OMIM:613735
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... ORPHA:93357
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Dend Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum ORPHA:79134
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... ORPHA:177907
Tetrasomy 5P
Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Long philtrum, Short nose ORPHA:3309
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... ORPHA:357074
Weiss-Kruszka Syndrome
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow OMIM:618619
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose ORPHA:93259
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... OMIM:601812
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge OMIM:300863
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft palate, Down... OMIM:217980
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera... OMIM:610828
3C Syndrome
Depressed nasal bridge, Micrognathia, High, narrow palate, Wide nasal bridge, Orofacial cleft, Cl... ORPHA:7
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Retrognathia, High palate, Wide nasal bridge OMIM:618005
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E... ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... OMIM:619005
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig... ORPHA:1974
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... ORPHA:261236
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Abnormality of the dentition, Eruption failure, High palate, Long ... ORPHA:476126
Warburg Micro Syndrome 3
Downturned corners of mouth, Short nose, Narrow palate, Micrognathia OMIM:614222
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Everted lowe... OMIM:608013
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge ORPHA:90154
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Short nose OMIM:617822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nose OMIM:614749
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Coni... ORPHA:73223
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal... OMIM:227330
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Micrognathia, Wide nasal bridge, Thin vermilion border, High palate, Shor... ORPHA:251071
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho... OMIM:616723
Diaphanospondylodysostosis
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Short nose OMIM:608022
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti... OMIM:601088
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... ORPHA:65286
Developmental Delay With Or Without Dysmorphic Facies And Autism
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... OMIM:618454
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Short nose OMIM:614207
Trisomy 20P
Anteverted nares, Micrognathia, Abnormality of the dentition, Downturned corners of mouth, Abnorm... ORPHA:261318
Desmosterolosis
Depressed nasal bridge, Micrognathia, Abnormality of the nose, Submucous cleft hard palate, Cleft... ORPHA:35107
Robinow Syndrome
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Micrognathia, Persist... ORPHA:97360
Macrocephaly/Autism Syndrome
High palate, Short nose, Depressed nasal bridge, Long philtrum OMIM:605309
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge ORPHA:93258
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Sh... OMIM:612394
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Alveolar ridge overgrowth, Cleft palate... OMIM:602398
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o... ORPHA:79345
Blomstrand Lethal Chondrodysplasia
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Micrognathia, Long phil... ORPHA:50945
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b... OMIM:247200
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Distal Deletion 10Q
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Prominent nose, Wide nasal bridge... ORPHA:96148
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Micrognathia, Protruding tongue, Thick vermilion border, Narrow mouth, Short nose, Ret... OMIM:608779
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo... OMIM:616580
Donnai-Barrow Syndrome
Malar flattening, Short nose, Depressed nasal bridge, Broad nasal tip OMIM:222448
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Mi... ORPHA:1507
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Thin verm... OMIM:616007
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed... OMIM:616835
Schneckenbecken Dysplasia
Malar flattening, Short nose, Cleft palate OMIM:269250
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Supernume... OMIM:268400
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Diastema, Cario... OMIM:244450
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu... OMIM:271510
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Triangular mouth, Cleft palate... OMIM:257300
Lathosterolosis
Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... ORPHA:46059
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan... OMIM:166250
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... OMIM:115150
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Thin vermilion border, High... OMIM:614080
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Malar flattening, Short nos... OMIM:228520
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Micrognathia, O... ORPHA:3107
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Micrognathia, Hypoplastic frontal sinuses, Pierre-Robin sequence, Cleft p... ORPHA:90652
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, H... OMIM:620369
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Cleft palate, High palate, Narrow mout... ORPHA:1225
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate... ORPHA:2282
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S... OMIM:601353
Microlissencephaly-Micromelia Syndrome
Short nose, Long philtrum ORPHA:50810
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Thick lower lip verm... OMIM:230740
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow mouth, Short nose OMIM:614114
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... OMIM:268310
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Triangular mouth OMIM:617988
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,... OMIM:613457
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br... ORPHA:1465
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Orofaciodigital Syndrome Type 4
Wide nose, Median cleft lip, Abnormal oral mucosa morphology, Choanal atresia, Micrognathia, High... ORPHA:2753
Rubinstein-Taybi Syndrome 1
Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Hi... OMIM:180849
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Cleft lip, Cleft palate, Prominent nasolabial fold, ... ORPHA:2953
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Abnormal palate ... ORPHA:2719
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Abnormality of the dentition, Cleft ... ORPHA:363611
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip... ORPHA:96147
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum OMIM:617527
Doors Syndrome
Thin upper lip vermilion, Anteverted nares, Short lingual frenulum, Broad nasal tip, Abnormality ... ORPHA:79500
Plaa-Associated Neurodevelopmental Disorder
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum ORPHA:521426
Coffin-Lowry Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Thick lower lip vermilion, Dental malocclusio... OMIM:303600
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose ORPHA:93260
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal... OMIM:213980
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue,... OMIM:601559
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality of the nose, Orofacial cleft,... ORPHA:171929
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormality of the denti... ORPHA:261112
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl... ORPHA:828
Marshall-Smith Syndrome
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Depressed nasal b... OMIM:602535
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Gingival overgro... ORPHA:508533
Chand Syndrome
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Trichothiodystrophy 1, Photosensitive
Short nose, Retrognathia, Triangular mouth OMIM:601675
Lathosterolosis
Anteverted nares, Micrognathia, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, Hi... OMIM:607330
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... OMIM:601358
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate,... ORPHA:1449
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... OMIM:618332
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... OMIM:301044
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Sho... ORPHA:77301
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Micrognathia, Narrow palate, Long philtrum, Short nose ORPHA:109
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Submucous cleft hard palate, High palate, Long philtrum, Short nose ORPHA:457279
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ... ORPHA:457395
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose OMIM:200600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Wide nasal bridge, Th... OMIM:617157
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, narrow palate, ... OMIM:615873
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, High palate, Long philtrum... ORPHA:536467
Pallister-Hall Syndrome
Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cleft upper lip, Microglo... OMIM:146510
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Submucous cleft hard palate, High palate, Hypoplasia of... ORPHA:1340
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... ORPHA:1519
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Broad... OMIM:616268
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge OMIM:614225
Alg9-Cdg
Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Underdeveloped nasal alae, M... ORPHA:79328
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... OMIM:272460
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Short nose, Retrognathia, Bifid ... OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Narrow mouth, Bu... OMIM:309590
Chops Syndrome
Anteverted nares, High, narrow palate, Downturned corners of mouth, Long philtrum, Short nose OMIM:616368
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum OMIM:258480
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge OMIM:300661
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thin l... ORPHA:280633
Atelosteogenesis, Type I
Depressed nasal bridge, Micrognathia, Cleft palate, Malar flattening, Short nose OMIM:108720
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum OMIM:614185
Trisomy 18
Microretrognathia, Choanal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, Narrow mo... ORPHA:3380
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... ORPHA:353281
Ogden Syndrome
Micrognathia, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion, Microretrogn... OMIM:300855
Omodysplasia 1
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Long philtrum, Malar flattening, Short nose OMIM:258315
Deeah Syndrome
Narrow palate, High palate, Short philtrum, Narrow mouth, Prominent nasal tip, Short nose, Retrog... OMIM:619004
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, U-Shaped upper lip vermilion, Short nose OMIM:147791
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Cleft pal... ORPHA:264450
Zttk Syndrome
Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ... OMIM:617140
Phocomelia, Schinzel Type
High, narrow palate, Short nose, Cleft palate, Micrognathia ORPHA:2879
C Syndrome
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Gingival overgro... ORPHA:1308
Toriello-Carey Syndrome
Micrognathia, Cleft palate, High palate, Short nose, Abnormal palate morphology ORPHA:3338
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:231050
Khan-Khan-Katsanis Syndrome
Short nose, Tented upper lip vermilion, Triangular mouth, Micrognathia OMIM:618460
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Prominent nose, Agenesis of mandibular central incisor, Pierre-R... OMIM:268305
Aspartylglucosaminuria
Mandibular prognathia, Abnormality of the dentition, Carious teeth, Wide nasal bridge, Gingival o... ORPHA:93
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Depressed nasal bridge, Anteverted nares, Abnormality... ORPHA:536471
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Thick vermilion border, Long philtrum OMIM:252160
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353277
Arterial Tortuosity Syndrome
Malar flattening, Short nose, Abnormal zygomatic bone morphology, Median cleft lip and palate ORPHA:3342
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Narrow mouth, Short ... ORPHA:1272
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Fontaine Progeroid Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Protruding tongue, Micro... OMIM:612289
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Short nose ORPHA:319182
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum ORPHA:522077
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... OMIM:269150
Bartsocas-Papas Syndrome 1
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Underdeveloped nasal alae, Cleft palate... OMIM:263650
Witteveen-Kolk Syndrome
Microretrognathia, Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Prominent nasal b... OMIM:613406
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Broad nasal tip, Micrognathia, Abnormality of the gingiva, Wide mouth,... ORPHA:798
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Promin... OMIM:619841
Noonan Syndrome 3
High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose OMIM:609942
Toriello-Lacassie-Droste Syndrome
Short nose, Anteverted nares ORPHA:3339
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Supernumer... ORPHA:268261
Okamoto Syndrome
Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... ORPHA:2729
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Concave nasal ridge, High palate, Lo... OMIM:271665
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal bridge,... ORPHA:373
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Downturned corners of mouth, Glossoptos... ORPHA:444077
Jacobsen Syndrome
Anteverted nares, Wide nasal bridge, Abnormal palate morphology, Long philtrum, Short nose, Broad... ORPHA:2308
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, High palate,... OMIM:620330
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper lip vermilion... OMIM:609945
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Cleft palate, Short columella, High palate, Narrow m... OMIM:601776
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Aplasia of the nasal bone, Short nose, Micrognathia OMIM:618820
Femoral-Facial Syndrome
Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Long philtrum, S... OMIM:134780
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Dow... OMIM:619522
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Short nose, Thick vermilion border ORPHA:505248
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... OMIM:261540
Bloom Syndrome
Malar flattening, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral inc... OMIM:210900
Acrocephalopolydactylous Dysplasia
Short nose OMIM:200995
Degcags Syndrome
Anteverted nares, Prominent nasal bridge, Prominent nose, Protruding tongue, Micrognathia, Wide m... OMIM:619488
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Choanal stenosis, Nar... ORPHA:95699
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Downturned corners of mouth, Short nose, Convex nasal ridge, Smooth philtrum OMIM:619321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Bulbous nose, Short uvula, Wide ... OMIM:619475
Cornelia De Lange Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathi... ORPHA:199
Peters Plus Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr... ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Depressed nasal bridg... OMIM:619503
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Downturned co... ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares... OMIM:312870
Williams Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Open bite, Carious t... ORPHA:904
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft... ORPHA:672
Williams-Beuren Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, Dental malo... OMIM:194050
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Narrow mouth OMIM:606721
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal ... OMIM:601803
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49
Microphthalmia, Syndromic 1
Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat... OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wwp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wwp2.

No publications found that use IMPC mice or data for Wwp2.

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