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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose, Dental malocclusion OMIM:155050
17Q21.31 Microduplication Syndrome
High palate, Short philtrum, Micrognathia, Malar flattening, Abnormality of the dentition, Anteve... ORPHA:217340
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Widely spaced teeth, Microd... ORPHA:99798
Rhiny
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Retrognathia, Anteverted nares, Short nose OMIM:614069
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Yell... ORPHA:88661
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Micrognathia, Mandibular aplasia, Retrognathia, Med... ORPHA:1832
Maxillonasal Dysplasia
Depressed nasal ridge, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Depress... ORPHA:1248
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Short nose ORPHA:1355
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Everted lower lip vermilion, Deep philtrum, Exaggerated... ORPHA:261120
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Prominence of the premaxilla, Eve... OMIM:137550
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Thin vermilion border, Downturned corners of ... ORPHA:1906
Mental Retardation, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Drooling, Open mouth, Malar flattening, Retrognathia, Short nose OMIM:613670
Otodental Dysplasia
Tooth ankylosis, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Depressed nasal bridg... ORPHA:1695
Atkin-Flaitz Syndrome
Broad nasal tip, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnormality ... ORPHA:1193
Adenylosuccinate Lyase Deficiency
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short nose ORPHA:46
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Macrodont... OMIM:600302
Liang-Wang Syndrome
Downturned corners of mouth, Everted lower lip vermilion, Wide nasal bridge, Macroglossia, Thin u... OMIM:618729
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the max... ORPHA:1529
Cleft Lip/Palate
Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Velopharyngeal insuffi... ORPHA:199306
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Mandibular prognathia, Thin upper lip vermilion, Sho... ORPHA:2429
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Smooth philtrum, Anteverted nares, Downturned corners of mo... OMIM:614744
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:616430
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Short nose, Micrognathia ORPHA:2598
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Short nose, Hypoplasia of the zygomatic bone ORPHA:2835
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Wide nasal bridge, Micrognathia, Cleft palate, Short nose OMIM:614078
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose ORPHA:1389
Peho-Like Syndrome
Open mouth, Short nose, Retrognathia OMIM:617507
Intellectual Disability, Birk-Barel Type
Broad nasal tip, Short philtrum, Open mouth, Tented upper lip vermilion, Micrognathia, High, narr... ORPHA:166108
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Depressed nasal bridge, Smooth philtrum, Thin upper lip vermilion, Short nose ORPHA:438178
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Depressed nasal bri... OMIM:616331
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Micrognathia OMIM:617802
Perlman Syndrome
Broad alveolar ridges, Open mouth, Wide nasal bridge, Micrognathia, High, narrow palate, Abnormal... ORPHA:2849
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Broad nasal tip, Thick lower lip vermilion, Maxillary lateral i... OMIM:300602
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Tented upper lip vermilion, Dental crowding, Mandibular prognathia, Short nose OMIM:300143
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Widely-spaced incisors OMIM:601668
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Depressed nasal bridge, Malar flattening, Anteverted nares, Short nose OMIM:613038
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Long philtrum, Widely spaced teeth, Wide nasal bridge, Micro... OMIM:249620
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth, Antever... OMIM:619356
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, Short nose OMIM:613443
Otodental Syndrome
Abnormality of the maxilla, Anteverted nares, Delayed eruption of teeth, Long philtrum, Pulp calc... ORPHA:2791
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Abnormal palate morphology, Short nose, Micrognathia ORPHA:1495
Chung-Jansen Syndrome
High palate, Short philtrum, Thin vermilion border, Long philtrum, Micrognathia, Anteverted nares... OMIM:617991
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Delayed eruption of teeth, Underdeveloped nasal alae, Long philtrum, Nar... OMIM:257850
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Absent uvula, Long philtrum, Wide nasal bridge, Micrognathia, Abnormality of the... OMIM:618529
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Microretrognathia, Wide nasal bridge, Short nose OMIM:613603
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental maloc... OMIM:619719
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Broad nasal tip, Thick lower lip vermilion, Maxillary lateral i... OMIM:300431
Distal Trisomy 18Q
High palate, Carious teeth, Micrognathia, Choanal atresia, Abnormality of dental morphology, Prom... ORPHA:1716
Clark-Baraitser Syndrome
High palate, Long philtrum, Depressed nasal bridge, Downturned corners of mouth, Short nose, Wide... OMIM:617752
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Prominent nasal bri... OMIM:302350
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Retrognathia, Dentinogenesis imperfecta, Short... ORPHA:166272
Potocki-Shaffer Syndrome
Short philtrum, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short ... OMIM:601224
Autosomal Dominant Omodysplasia
Long philtrum, Micrognathia, Depressed nasal bridge, Malar flattening, Short nose ORPHA:93328
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... ORPHA:363417
Baker-Gordon Syndrome
Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose OMIM:618218
Pallister-Hall-Like Syndrome
Micrognathia, Microglossia, Depressed nasal bridge, Short nose, Cleft palate, Median cleft lip OMIM:241800
Fibrochondrogenesis 2
Malar flattening, Anteverted nares, Short nose, Micrognathia OMIM:614524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Smooth philtrum, Thin upper lip vermilion, Short nose, Wide mouth OMIM:615419
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Open mouth, Micrognathia, Thin upper lip vermilion, Short nose OMIM:613604
Acromicric Dysplasia
Narrow mouth, Long philtrum, Bulbous nose, Thick lower lip vermilion, Anteverted nares, Short nose ORPHA:969
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
17P13.3 Microduplication Syndrome
Wide nose, High palate, Narrow mouth, Short nose ORPHA:217385
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Short nose, Depressed nasal ridge, Mandibular prognathia ORPHA:2831
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Micrognathia, Broad philtrum, Anteverted nares, Short nose OMIM:618577
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Choanal atresia, Anteverted nares, Downturned ... ORPHA:1895
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Thin vermilion border, Carious teeth, Thick lower lip vermilion, Deep... ORPHA:2701
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Pierpont Syndrome
Broad nasal tip, Everted lower lip vermilion, Widely spaced teeth, Long upper lip, Prominent medi... OMIM:602342
Achondrogenesis
Anteverted nares, Long philtrum, Short nose, Micrognathia ORPHA:932
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Short nose, Cleft palate ORPHA:90653
Lowry-Maclean Syndrome
Convex nasal ridge, Micrognathia, Choanal atresia, Hypoplasia of the maxilla, Delayed eruption of... ORPHA:2409
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Malar flattening, Short nose OMIM:613458
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Thin vermilion border, Short nose ORPHA:2370
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, High palate, Long philtrum, Thin upper lip vermilion, Short nose OMIM:613544
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, U-Shaped upper lip vermilion, Deep phi... OMIM:300209
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad columella, Open mouth, Everted lower lip vermilion, Widely spaced teeth, Depressed nasal br... OMIM:617865
Intellectual Developmental Disorder, X-Linked 30
High palate, Drooling, Open mouth, Thick upper lip vermilion, Prominent nasal bridge, Thin upper ... OMIM:300558
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Long philtrum, Everted lower lip vermilion, Wide nasal bridge, Widely spaced tee... OMIM:615873
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Short nose, Micrognathia OMIM:615042
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding, Wide nasal bridge OMIM:600906
Miller-Dieker Syndrome
Anteverted nares, Abnormality of upper lip, Short nose ORPHA:531
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Depressed nasal bridge, Man... ORPHA:1327
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Acrocephalopolydactyly
Short nose, Abnormality of the mouth, Depressed nasal ridge ORPHA:221054
Non-Distal Trisomy 13Q
High palate, Long philtrum, Everted lower lip vermilion, Micrognathia, Abnormality of the dentiti... ORPHA:1702
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose DECIPHER:52
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Everted lower lip vermilion, Excessive salivation, Tented upper lip vermilion, Macr... ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Cleft palate, Thin vermilion border, Incisor macrodontia OMIM:615502
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Long philtrum, Micrognathia, Depressed nasal bridge, Malar flattening, Sho... ORPHA:171839
Achondrogenesis Type 1B
Anteverted nares, Long philtrum, Short nose, Micrognathia ORPHA:93298
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Micrognathia, Malar flattening, Cleft palate, Short nose ORPHA:2145
Codas Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Depressed nasal bridge, Abnormal den... ORPHA:1458
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Malar flattening, Mandibular prognathia, Anteverted nares, Short nose OMIM:614613
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Wide nasal bridge, Short nose OMIM:612563
Pterygium Colli, Isolated
Short nose OMIM:177990
Harel-Yoon Syndrome
Mandibular prognathia, Short nose, Micrognathia OMIM:617183
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Micrognathia ORPHA:2547
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Hyperphosphatasia With Mental Retardation Syndrome 3
Broad nasal tip, Wide nasal bridge, Tented upper lip vermilion, Cleft palate, Short nose OMIM:614207
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Open mouth, Prominent nasolabial f... ORPHA:391372
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad nasal tip, High palate, Underdeveloped nasal alae, Abnormality of primary teeth, Wide nasal... ORPHA:438216
Achondrogenesis Type 1A
Anteverted nares, Long philtrum, Short nose, Micrognathia ORPHA:93299
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Cleft mandible, Bulbous nose, Underdeveloped nasal alae, Oligodontia, Agen... ORPHA:364577
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Wide nose, Short ... OMIM:613457
Malan Syndrome
Narrow mouth, Everted lower lip vermilion, Hyperplasia of the premaxilla, Mandibular prognathia, ... OMIM:614753
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Micrognathia, Macroglossia, Depressed nasal bridge, Malar flattening, Protruding tongu... OMIM:242860
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Thick nasal alae, Short nose, Micrognathia ORPHA:163961
Al-Raqad Syndrome
Narrow mouth, Thin upper lip vermilion, Short nose OMIM:616459
Acrodysostosis
Delayed eruption of teeth, Depressed nasal ridge, Open bite, Open mouth, Wide nasal bridge, Hypop... ORPHA:950
Marshall Syndrome
Pierre-Robin sequence, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Micro... OMIM:154780
Fetal Trimethadione Syndrome
High palate, Depressed nasal bridge, Short nose, Micrognathia ORPHA:1913
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Bulbous nose, Tented upper lip vermilion, Depressed nasal bridge, Sho... OMIM:614105
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Micrognathia, Smooth philtrum, Thin upper lip vermilion, Ante... ORPHA:1915
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Open mouth, Widely spaced teeth, Micrognathia, Short nose, Retrognathia, Abnormalit... OMIM:156200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Anterior open-bit... OMIM:617877
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Malar flattening, Smooth philtrum, Anteverted nares, Short nose, Thi... OMIM:616420
Coffin-Siris Syndrome 9
Long nose, High palate, Anteverted nares, Short philtrum, Delayed eruption of teeth, Underdevelop... OMIM:615866
Spinocerebellar Ataxia With Dysmorphism
Downturned corners of mouth, Anteverted nares, Thick lower lip vermilion, Short nose OMIM:271270
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Depressed nasal bridge, Anosmia, Short nose OMIM:302950
Meckel Syndrome, Type 8
Short nose, Cleft upper lip, Cleft palate, Depressed nasal ridge OMIM:613885
Trisomy 12P
Everted lower lip vermilion, Wide nasal bridge, Micrognathia, Malar flattening, Downturned corner... ORPHA:1699
Pfeiffer Syndrome
High palate, Choanal stenosis, Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge... OMIM:101600
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Cohen Syndrome
Short philtrum, Open mouth, Convex nasal ridge, Micrognathia, High, narrow palate, Hypoplasia of ... OMIM:216550
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Abnormality of the nares, Hypoplasia of the zygomatic bone, Thin upper lip vermilion, Sh... ORPHA:1295
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short philtrum, Solitary median maxillary central incisor, Thin vermilion border, Underdeveloped ... OMIM:613026
Toluene Embryopathy
Micrognathia, Smooth philtrum, Hypoplasia of the zygomatic bone, Thin vermilion border, Short nose ORPHA:1920
Autosomal Recessive Omodysplasia
Long philtrum, Micrognathia, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:93329
Marshall Syndrome
High palate, Hypoplastic frontal sinuses, Long philtrum, Thick lower lip vermilion, Wide nasal br... ORPHA:560
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate, Wide nasal bridge, Short nose OMIM:218000
Temtamy Preaxial Brachydactyly Syndrome
Deep philtrum, Microdontia, Talon cusp, Diastema, Cleft palate OMIM:605282
Tetrasomy 18P
Narrow mouth, Thin vermilion border, Long philtrum, Short nose ORPHA:3307
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Pontocerebellar Hypoplasia, Type 10
High palate, Underdeveloped nasal alae, Wide nasal bridge, Thin upper lip vermilion, Short nose OMIM:615803
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Cleft palate,... ORPHA:79113
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Wide nasal bridge, Retrognathia, Oral cleft, Thin upper lip vermi... OMIM:243310
5Q14.3 Microdeletion Syndrome
Open mouth, Short philtrum, Anteverted nares, Short nose ORPHA:228384
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, S... ORPHA:439822
Peho Syndrome
Open mouth, Tented upper lip vermilion, Short nose, Retrognathia OMIM:260565
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Hypoplasia of teeth, Micrognathia, Wide... ORPHA:391408
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Long philtrum, Abnormality of the dentition, Wide nasal bridge, Hypopl... OMIM:608156
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Flared nostrils, Deep philtrum, Depressed nasal bridge, Retrognathi... OMIM:206920
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Prominent nasal bridge, Smooth philtrum, Thin upper lip vermili... ORPHA:401935
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Teebi Hypertelorism Syndrome 1
Long philtrum, Wide nasal bridge, Micrognathia, Natal tooth, Depressed nasal bridge, Dental crowd... OMIM:145420
Marshall-Smith Syndrome
Open mouth, Choanal atresia, Retrognathia, Protruding tongue, Anteverted nares, Gingival overgrow... ORPHA:561
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Short philtrum, Long philtrum, Bulbous nose, Oligodontia, Wide nasal bridge, Microgn... OMIM:617061
Chromosome 3Q29 Duplication Syndrome
Short nose, Wide nasal bridge, Bulbous nose OMIM:611936
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Bulbous nose, Open mouth, Widely spaced teeth, Wide nasal bridge, Macroglossia, Depr... ORPHA:369891
Gms Syndrome
Short philtrum, Depressed nasal bridge, Short nose OMIM:138770
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Depressed nasal ridge, Micrognathia, Short nose, Wide mouth ORPHA:163966
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Pallister W Syndrome
Broad nasal tip, Broad uvula, Agenesis of central incisor, Wide nasal bridge, Submucous cleft har... OMIM:311450
Bartsocas-Papas Syndrome
Narrow mouth, Underdeveloped nasal alae, Micrognathia, Median cleft lip, Cleft palate, Short nose ORPHA:1234
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cebalid Syndrome
High palate, Depressed nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:618774
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Mandibular prognathia OMIM:618087
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia ORPHA:2083
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Anteverted nares, Downturned co... ORPHA:163649
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Short nose OMIM:605309
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose OMIM:616910
Developmental And Epileptic Encephalopathy 75
Short philtrum, Open mouth, Wide nasal bridge, Anteverted nares, Short nose OMIM:618437
Acrofacial Dysostosis, Catania Type
Abnormal palate morphology, Carious teeth, Microretrognathia, Smooth philtrum, Hypoplasia of the ... ORPHA:1786
Jaberi-Elahi Syndrome
Abnormality of the dentition, Depressed nasal bridge, Short nose, Triangular mouth OMIM:617988
Vitamin K Antagonist Embryofetopathy
Macroglossia, Choanal atresia, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:1914
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, High palate, Narrow nose, Carious teeth, Narrow maxilla, Dental crowding, Short nose OMIM:617602
Waardenburg Syndrome Type 1
Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Tented upper lip vermilion, Mandib... ORPHA:894
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Short nose OMIM:300887
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypoplasia of the maxilla, Cleft palate, Short nose OMIM:614261
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Femoral-Facial Syndrome
Long philtrum, Micrognathia, Oral cleft, Thin upper lip vermilion, Cleft palate, Short nose ORPHA:1988
Raine Syndrome
Narrow mouth, High palate, Gingival overgrowth, Enamel hypoplasia, Choanal stenosis, Microdontia,... OMIM:259775
Verheij Syndrome
Thin upper lip vermilion, Wide nasal bridge, Long philtrum, Short nose OMIM:615583
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft lip, Microretrognathia, Down... OMIM:618571
Smith-Magenis Syndrome
Short philtrum, Cleft upper lip, Open mouth, Wide nasal bridge, Tented upper lip vermilion, Micro... ORPHA:819
Distal Trisomy 5Q
Narrow mouth, Long philtrum, Carious teeth, Micrognathia, Prominent nasal bridge, Thin vermilion ... ORPHA:96097
Glutamine Deficiency, Congenital
Thin vermilion border, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:610015
Craniofaciofrontodigital Syndrome
Long philtrum, Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Antever... OMIM:114620
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Dental crowding, Short nose OMIM:615539
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia OMIM:234050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Micrognathia, Thin upper lip vermilion, Dental malocclusion, Short nose ORPHA:329178
Cerebrooculonasal Syndrome
High palate, Narrow palate, Solitary median maxillary central incisor, U-Shaped upper lip vermili... OMIM:605627
Cutis Laxa, Autosomal Recessive, Type Iia
Narrow mouth, High palate, Long philtrum, Carious teeth, Malar flattening, Anteverted nares, Shor... OMIM:219200
16P12.1P12.3 Triplication Syndrome
Long philtrum, Bulbous nose, High, narrow palate, Malar flattening, Retrognathia, Thin vermilion ... ORPHA:485405
16P11.2P12.2 Microdeletion Syndrome
Absent nasal bridge, Long nose, Bulbous nose, Open mouth, Microretrognathia, Oral cleft, Antevert... ORPHA:261211
Poikiloderma With Neutropenia
Long philtrum, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinusitis, Depre... OMIM:604173
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Thin vermilion border, Long... ORPHA:1358
Even-Plus Syndrome
High palate, Depressed nasal ridge, Hypodontia, Bifid nasal tip, Short nose OMIM:616854
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, P... ORPHA:2751
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Bulbous nose, Narrow nose, Wide nasal bridge, Micrognathia, Cleft lip, Depressed ... OMIM:618454
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Narrow pala... ORPHA:364028
Mohr Syndrome
Accessory oral frenulum, Broad nasal tip, High palate, Tongue nodules, Lobulated tongue, Agenesis... OMIM:252100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow mouth, Delayed eruption of teeth, Oligodontia, Wide nasal bridge, Conical incisor, Depress... OMIM:235510
Hyperphosphatasia With Mental Retardation Syndrome 1
Broad nasal tip, Short philtrum, Cleft upper lip, Wide nasal bridge, Tented upper lip vermilion, ... OMIM:239300
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Smooth philtrum, Short nose OMIM:618828
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Micrognathia, Depressed nasal bridge, Ant... ORPHA:314655
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Antley-Bixler Syndrome
Narrow mouth, Long philtrum, Choanal atresia, Hypoplasia of the zygomatic bone, Anteverted nares,... ORPHA:83
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Long philtrum, Velopharyngeal insufficiency, Wide nasal bridge, Submucous ... OMIM:614701
Frontofacionasal Dysplasia
Depressed nasal ridge, Non-midline cleft lip, Dimple on nasal tip, Choanal atresia, Depressed nas... ORPHA:1791
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Pierre-Robin sequence, High palate, Short philtrum, Agenesis of permanent teeth, Lo... ORPHA:251028
20Q11.2 Microduplication Syndrome
Tented philtrum, Wide nasal bridge, Tented upper lip vermilion, Depressed nasal bridge, Abnormal ... ORPHA:363659
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Micrognathia, Choanal atresia, Malar flattening, Anteverted nares, Cleft palate, S... OMIM:610536
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Short nose, Micrognathia ORPHA:496790
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Maxillozygomatic hypoplasia, Choanal... ORPHA:1790
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short upper lip, Wide nasal bridge, Hypoplasia of the maxilla, Malar flattening, An... OMIM:271960
Prolidase Deficiency
High palate, Micrognathia, Depressed nasal bridge, Concave nasal ridge, Short nose OMIM:170100
Bainbridge-Ropers Syndrome
Broad nasal tip, High palate, Underdeveloped nasal alae, Choanal stenosis, Everted lower lip verm... OMIM:615485
Dermotrichic Syndrome
Depressed nasal bridge, Short nose ORPHA:99688
Gomez-Lopez-Hernandez Syndrome
High palate, Thin vermilion border, Malar flattening, Smooth philtrum, Anteverted nares, Short nose OMIM:601853
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Oligodontia, Microdontia, Abnormality of th... ORPHA:2315
Orofacial Cleft 15
Bilateral cleft lip, Bulbous nose, Palate fistula, Bilateral cleft palate, Agenesis of lateral in... OMIM:616788
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Deep philtrum, Depressed nasal bridge, Wide nose, Anteverted nares, Short nose OMIM:613320
Arthrogryposis, Distal, Type 2A
Narrow mouth, High palate, Long philtrum, Underdeveloped nasal alae, Wide nasal bridge, Malar fla... OMIM:193700
Intellectual Developmental Disorder, X-Linked 98
Long nose, Short philtrum, Thin vermilion border, Drooling, Underdeveloped nasal alae, Open mouth... OMIM:300912
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Smith-Kingsmore Syndrome
Long philtrum, Open mouth, Depressed nasal bridge, Smooth philtrum, Thin upper lip vermilion, Sho... OMIM:616638
Microform Holoprosencephaly
Short philtrum, Solitary median maxillary central incisor, Midnasal stenosis, Tented upper lip ve... ORPHA:280200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Microdontia, Depressed nasal bridge, Abnormal dental enamel morphology, Retrognathia, Hypoplasia ... ORPHA:1812
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Prominent nasal bridge, Bulbous nose OMIM:613870
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Short nose OMIM:614732
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Conical tooth, Abnormal oral mucosa morphology, Hypodontia, Everted lo... OMIM:305100
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Choanal atresia, Depressed nasal bridge, Absent cupid's bow, Short nose ORPHA:284169
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Open mouth, Tented upper lip vermilion, Depressed nasal bridge, Thin upper lip verm... OMIM:618430
Desbuquois Dysplasia 1
Narrow mouth, Long philtrum, Depressed nasal bridge, Microretrognathia, Malar flattening, Concave... OMIM:251450
Otopalatodigital Syndrome, Type I
Narrow mouth, Wide nasal bridge, Absent frontal sinuses, Selective tooth agenesis, Malar flatteni... OMIM:311300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Long philtrum, Open mouth, Deep philtrum, Depressed nasal bridge, Abnormality of the... OMIM:615398
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Anteverted nares, Broad columella, Long philtrum, Wide nasal bridge, Tented upper li... OMIM:619383
Cenani-Lenz Syndrome
Short philtrum, Hypodontia, Convex nasal ridge, High, narrow palate, Abnormal dental enamel morph... ORPHA:3258
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Short nose, Micrognathia ORPHA:3078
Disorder Of Sex Development-Intellectual Disability Syndrome
Short philtrum, Thin vermilion border, Downturned corners of mouth, Short nose ORPHA:2983
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Micrognathia, Depressed nasal bridge, Malar flattening, Anteverted nares, Short nose OMIM:602613
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Long philtrum, Short nose, Wide mouth OMIM:608776
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Depressed nasal bridge, Malar flattening, Short nose, Thick vermilion... OMIM:616723
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Wide nasal bridge, Micrognathia, Anteverted nares, Cleft palate, Short nose OMIM:616897
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Aarskog-Scott Syndrome
Cleft upper lip, Hypodontia, Wide nasal bridge, Hypoplasia of the maxilla, Curved linear dimple b... OMIM:305400
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion border ORPHA:1185
Oculodentodigital Dysplasia
Broad alveolar ridges, Premature loss of primary teeth, Broad columella, Underdeveloped nasal ala... ORPHA:2710
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Short nose, Micrognathia OMIM:614222
Cerebellar-Facial-Dental Syndrome
Long philtrum, Wide nasal bridge, Micrognathia, Alveolar ridge overgrowth, Dental malocclusion, A... ORPHA:444072
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
C Syndrome
Accessory oral frenulum, High palate, Thick anterior alveolar ridges, Wide nasal bridge, Microgna... OMIM:211750
Down Syndrome
Narrow mouth, Depressed nasal ridge, Open mouth, Microdontia, Thick lower lip vermilion, Macroglo... ORPHA:870
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, High palate, Depressed nasal bridge, Malar flattening, Smooth philtrum, Thin upper lip... OMIM:618590
Holoprosencephaly 7
Solitary median maxillary central incisor, Hypoplasia of the premaxilla, Short nose, Bilateral cl... OMIM:610828
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Long philtrum, Gingival overgrowth, Bifid tongue, Wide nasal bridge,... OMIM:616894
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Fetal Hydantoin Syndrome
Depressed nasal ridge, Everted lower lip vermilion, Cleft palate, Short nose, Wide mouth ORPHA:1912
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Rhombencephalosynapsis
Narrow mouth, Microretrognathia, Anteverted nares, Short nose ORPHA:59315
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Broad nasal tip, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Prominent nasal bri... OMIM:300749
Intellectual Disability-Strabismus Syndrome
Narrow nasal ridge, High palate, Micrognathia, Depressed nasal bridge, Short nose, Wide mouth, Ab... ORPHA:363528
Micro Syndrome
High palate, Short philtrum, Wide nasal bridge, Micrognathia, Anteverted nares, Short nose ORPHA:2510
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Micrognathia, Depressed nasal bridge, Anteverted nares, Downturned corners... OMIM:217980
Frontofacionasal Dysplasia
Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Malar fl... OMIM:229400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, High palate, Long philtrum, Carious teeth, Prominent nasolabial fold, Malar flat... ORPHA:357074
Tetrasomy 5P
High palate, Long philtrum, Wide nasal bridge, Micrognathia, Anteverted nares, Short nose ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Micrognathia, Retrognathia, Smooth philtrum, Wide nose, Protruding tongue, Short no... OMIM:608779
Peho Syndrome
Abnormal palate morphology, Open mouth, Malar flattening, Abnormality of upper lip, Anteverted na... ORPHA:2836
Ruvalcaba Syndrome
Narrow mouth, Convex nasal ridge, Dental crowding, Thin vermilion border, Short nose ORPHA:3121
3C Syndrome
Wide nasal bridge, High, narrow palate, Micrognathia, Depressed nasal bridge, Oral cleft, Cleft p... ORPHA:7
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Short dental root, Depressed nasal bridge, Malar flattening, Mandibular prognathia,... OMIM:271510
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Wide nasal bridge, Prominent nasal bridge, Protruding tongue, Gingival overgrowth,... OMIM:619179
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Long philtrum, Eruption failure, Micrognathia, Dental crowding, Abnormality of the d... ORPHA:476126
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Wide nasal bridge, Short nose, Retrognathia OMIM:618005
Gaucher Disease, Perinatal Lethal
Narrow mouth, Open mouth, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge, Retr... OMIM:608013
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Long philtrum, Open bite, Everted lower lip vermilion, Deep philtrum, Micrognathia, ... ORPHA:1974
Osteoglophonic Dysplasia
High palate, Long philtrum, Eruption failure, Depressed nasal bridge, Abnormal nasopharynx morpho... OMIM:166250
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary ce... OMIM:301040
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Thin upper lip vermilion, Anteverted nares, Short nose OMIM:613735
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Underdeveloped nasal alae, Micrognathia, Depressed nasal bridge, Dental crowding, Lo... OMIM:619005
W Syndrome
Broad nasal tip, Broad uvula, Upper lip pit, Submucous cleft hard palate, Depressed nasal bridge,... ORPHA:2804
19P13.13 Microdeletion Syndrome
Narrow mouth, High palate, Macroglossia, Depressed nasal bridge, Malar flattening, Smooth philtru... ORPHA:357001
Diaphanospondylodysostosis
Depressed nasal ridge, Micrognathia, Depressed nasal bridge, Cleft palate, Short nose OMIM:608022
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Hypodontia, Short nose ORPHA:544503
Distal Monosomy 9P
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Cleft palate, Short nose ORPHA:1642
Robinow Syndrome, Autosomal Recessive 1
Absent uvula, Long philtrum, Bifid tongue, Wide nasal bridge, Micrognathia, Macroglossia, Depress... OMIM:268310
Kleefstra Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated c... ORPHA:261494
Trisomy 20P
Short philtrum, Abnormal palate morphology, Thin vermilion border, Microdontia, Everted lower lip... ORPHA:261318
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Underdeveloped nasolabial fold, High palate, Bifid uvula, Alveolar ridge overgro... ORPHA:177907
8P23.1 Microdeletion Syndrome
High palate, Wide nasal bridge, Micrognathia, Prominent nasal bridge, Thin vermilion border, Shor... ORPHA:251071
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Narrow palate, Trismus, Deep philtrum, Prominent nasal bridge, Dental malocclusion, ... OMIM:227330
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Wide nasal bridge, Micrognathia, Maxillary lateral incisor microdontia, Conical in... ORPHA:73223
Desmosterolosis
Hypoplastic nasal bridge, Gingival fibromatosis, Micrognathia, Alveolar ridge overgrowth, Antever... OMIM:602398
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Long philtrum, Malar flattening, Anteverted nares, Downturned corners of mouth, Short nose OMIM:612394
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Glossoptosis, Underdeveloped nasal alae ORPHA:2031
Adenylosuccinase Deficiency
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short nose, Wide mouth OMIM:103050
Desmosterolosis
Narrow mouth, Bifid uvula, Abnormality of the nose, Micrognathia, Submucous cleft hard palate, De... ORPHA:35107
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, Convex nasal ridge, Micrognathia, Abnormality of the dentition, Short nose ORPHA:90154
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose ORPHA:2143
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Impaired mastication, Retrognathia ORPHA:466722
16P13.11 Microdeletion Syndrome
Cleft upper lip, Exaggerated cupid's bow, Depressed nasal bridge, Smooth philtrum, Thin upper lip... ORPHA:261236
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Robinow Syndrome
Broad alveolar ridges, Broad nasal tip, Long philtrum, Flared nostrils, Persistence of primary te... ORPHA:97360
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Wide nasal bridge, Thick upper lip vermilion, Micrognathia, Thin upper... OMIM:247200
Weiss-Kruszka Syndrome
Anteverted nares, Broad philtrum, Exaggerated cupid's bow, Short nose OMIM:618619
1P21.3 Microdeletion Syndrome
Broad nasal tip, Wide mouth, Short nose, Micrognathia ORPHA:293948
Ayme-Gripp Syndrome
Narrow mouth, Craniofacial asymmetry, Long philtrum, Abnormality of the dentition, Wide nasal bri... OMIM:601088
Distal Monosomy 10Q
High palate, Wide nasal bridge, Micrognathia, Short nose, Prominent nasal bridge, Smooth philtrum... ORPHA:96148
Kaufman Oculocerebrofacial Syndrome
Narrow mouth, High palate, Carious teeth, Micrognathia, Depressed nasal bridge, Smooth philtrum, ... OMIM:244450
Pfeiffer Syndrome Type 2
High palate, Choanal atresia, Depressed nasal bridge, Malar flattening, Cleft palate, Short nose ORPHA:93259
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Supernumerary tooth, Microdo... OMIM:268400
Lathosterolosis
High palate, Long philtrum, Bulbous nose, Micrognathia, Anteverted nares, Downturned corners of m... ORPHA:46059
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Underdeveloped nasal alae, Depressed nasal bridge, Microretrognathia, Ante... OMIM:616835
Robinow Syndrome, Autosomal Dominant 1
High palate, Narrow palate, Delayed eruption of teeth, Long philtrum, Bifid tongue, Wide nasal br... OMIM:180700
Blomstrand Lethal Chondrodysplasia
Long philtrum, Micrognathia, Natal tooth, Depressed nasal bridge, Malar flattening, Protruding to... ORPHA:50945
Stuve-Wiedemann Syndrome 1
Smooth tongue, Micrognathia, Abnormal dental enamel morphology, Malar flattening, Wide nasal base... OMIM:601559
Cardiofaciocutaneous Syndrome 1
High palate, Bulbous nose, Open bite, Open mouth, Deep philtrum, Micrognathia, Submucous cleft ha... OMIM:115150
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Hypoplastic frontal sinuses, Oligodontia, Micrognathia, Depr... ORPHA:90652
Autosomal Dominant Robinow Syndrome
Short philtrum, Long philtrum, Open bite, Oligodontia, Hypodontia, Supernumerary tooth, Wide nasa... ORPHA:3107
Acrocallosal Syndrome
High palate, Short philtrum, Cleft upper lip, Long philtrum, Open mouth, Wide nasal bridge, Hypop... OMIM:200990
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate, Wide nasal bridge, Micrognathia, Anteverted nares... ORPHA:2282
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Short nose OMIM:300863
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Short columella, Thick nasal alae, Hypoplasia of the maxi... ORPHA:79345
3Q29 Microdeletion Syndrome
High palate, Short philtrum, Everted lower lip vermilion, Dental crowding, Prominent nasal bridge... ORPHA:65286
Baller-Gerold Syndrome
Narrow mouth, High palate, Micrognathia, Narrow nasal bridge, Prominent nasal bridge, Cleft palat... ORPHA:1225
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Thin vermilion border, Long philtrum, Open mouth, Micrognathia, Depressed nasal brid... OMIM:614080
Autosomal Recessive Robinow Syndrome
Short philtrum, Abnormal palate morphology, Long philtrum, Open bite, Hypodontia, Supernumerary t... ORPHA:1507
Fibrochondrogenesis 1
Narrow mouth, Long philtrum, Depressed nasal bridge, Malar flattening, Anteverted nares, Cleft pa... OMIM:228520
Hyperphosphatasia With Mental Retardation Syndrome 2
Broad nasal tip, Wide nasal bridge, Tented upper lip vermilion, Cleft palate, Short nose OMIM:614749
Dend Syndrome
Anteverted nares, Downturned corners of mouth, Long philtrum, Short nose ORPHA:79134
Donnai-Barrow Syndrome
Broad nasal tip, Depressed nasal bridge, Malar flattening, Short nose OMIM:222448
Holoprosencephaly 9
Single naris, Short philtrum, Dental malocclusion, Solitary median maxillary central incisor, Cle... OMIM:610829
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Micrognathia, Depressed nasal bridge, Malar flattening, Wide nose, Anteverted nare... OMIM:257300
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Bulbous nose, Micrognathia, Depressed nasal bridge, Short nose OMIM:614114
Non-Specific Syndromic Intellectual Disability
Narrow mouth, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Depressed nasal bridge... ORPHA:528084
Pfeiffer Syndrome Type 1
High palate, Depressed nasal bridge, Short nose ORPHA:93258
Cataract, Aberrant Oral Frenula, And Growth Retardation
Accessory oral frenulum, Anteverted nares, Short nose OMIM:115645
Alkuraya-Kucinskas Syndrome
High palate, Depressed nasal bridge, Anteverted nares, Short nose OMIM:617822
Marshall-Smith Syndrome
High palate, Short philtrum, Recurrent upper respiratory tract infections, Drooling, Choanal sten... OMIM:602535
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Abnormal oral mucosa morphology, Hypodon... ORPHA:289
Coffin-Siris Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Anteverted nares, Delayed eruption... ORPHA:1465
Musculocontractural Ehlers-Danlos Syndrome
Narrow mouth, High palate, Long philtrum, Prominent nasolabial fold, Cleft lip, Microretrognathia... ORPHA:2953
Orofaciodigital Syndrome Type 4
Median cleft lip, Short philtrum, Bifid uvula, Depressed nasal ridge, Abnormal oral mucosa morpho... ORPHA:2753
Trisomy 10P
High palate, Thin vermilion border, Abnormality of the nose, Micrognathia, Depressed nasal bridge... ORPHA:171929
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Narrow mouth, Long philtrum, Depressed nasal bridge, Malar flattening, Thin upper lip vermilion, ... OMIM:601353
Ctcf-Related Neurodevelopmental Disorder
Narrow mouth, Broad nasal tip, Short philtrum, Thin vermilion border, Long philtrum, Abnormality ... ORPHA:363611
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Broad philtrum, Wide nose, Cleft palate, Short nose, Wide mouth ORPHA:1394
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Chand Syndrome
Agenesis of permanent teeth, Depressed nasal bridge, Commissural lip pit, Agenesis of maxillary i... ORPHA:1401
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Abnormal palate morphology, Microdontia, Depressed nasal bridge, Anteverted nares, ... ORPHA:2719
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Long philtrum, Short nose OMIM:258480
Doors Syndrome
Wide nasal base, Broad nasal tip, High palate, Narrow palate, Broad alveolar ridges, Long philtru... ORPHA:79500
Witteveen-Kolk Syndrome
Narrow mouth, High palate, Thin vermilion border, Long philtrum, Underdeveloped nasal alae, Flare... OMIM:613406
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow mouth, Long nose, Long philtrum, Bulbous nose, Drooling, Open mouth, Micrognathia, Depress... ORPHA:508533
Stickler Syndrome
Cleft upper lip, Long philtrum, Depressed nasal ridge, Open bite, Micrognathia, Macroglossia, Hyp... ORPHA:828
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Short nose, Retrognathia OMIM:601675
Microlissencephaly-Micromelia Syndrome
Long philtrum, Short nose ORPHA:50810
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
High palate, Cleft upper lip, Gingival overgrowth, Microdontia of primary teeth, Micrognathia, Hy... OMIM:213980
Lathosterolosis
High palate, Thin vermilion border, Long philtrum, Wide nasal bridge, Thick upper lip vermilion, ... OMIM:607330
Achondrogenesis, Type Ia
Depressed nasal bridge, Anteverted nares, Short nose OMIM:200600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Long philtrum, Tented upper lip vermilion, Micrognathia, Smooth philtrum, Short nose OMIM:617527
White-Kernohan Syndrome
Underdeveloped nasal alae, Tented upper lip vermilion, Depressed nasal bridge, Retrognathia, Thin... OMIM:619426
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Short philtrum, Solitary median maxillary central incisor, Narrow nose, Widely spaced teeth, Choa... OMIM:301044
Plaa-Associated Neurodevelopmental Disorder
High palate, Long philtrum, Tented upper lip vermilion, Micrognathia, Smooth philtrum, Short nose ORPHA:521426
Monosomy 9P
Narrow mouth, High palate, Long philtrum, Micrognathia, Choanal atresia, Depressed nasal bridge, ... ORPHA:261112
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Macroglossia, Protruding tongue, Anteverted nares, Downturned corner... ORPHA:96147
Chops Syndrome
Downturned corners of mouth, Short nose OMIM:616368
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Impaired mastication, Submucous cleft hard palate, Thin upper lip ver... ORPHA:457279
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Long philtrum, Micrognathia, Wide nose, Anteverted nares, Short nose ORPHA:109
Monosomy 9Q22.3
Narrow mouth, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Oral ... ORPHA:77301
Menke-Hennekam Syndrome 1
High palate, Short philtrum, Recurrent upper respiratory tract infections, Agenesis of permanent ... OMIM:618332
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Abnormality of dental eruption, Absent ethmoidal sinuses,... OMIM:211910
Pfeiffer Syndrome Type 3
High palate, Choanal atresia, Depressed nasal bridge, Cleft palate, Short nose ORPHA:93260
Khan-Khan-Katsanis Syndrome
Triangular mouth, Tented upper lip vermilion, Short nose, Micrognathia OMIM:618460
Opsismodysplasia
Depressed nasal bridge, Short nose ORPHA:2746
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Everted lower lip vermilion, Wide nasal bridge, Prominent nasal bridge, Oral cleft... ORPHA:1519
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Malar flattening, Increased size of nasophary... ORPHA:457395
Pallister-Hall Syndrome
Cleft upper lip, Choanal atresia, Natal tooth, Microglossia, Depressed nasal bridge, Anteverted n... OMIM:146510
Alg9-Cdg
Bifid uvula, Long philtrum, Underdeveloped nasal alae, Convex nasal ridge, Micrognathia, Depresse... ORPHA:79328
Warburg Micro Syndrome 2
Prominent nasal bridge, Short nose OMIM:614225
Bloom Syndrome
Agenesis of maxillary lateral incisor, Recurrent upper respiratory tract infections, Malar flatte... OMIM:210900
Atelosteogenesis, Type I
Micrognathia, Depressed nasal bridge, Malar flattening, Cleft palate, Short nose OMIM:108720
Cardiofaciocutaneous Syndrome
High palate, Long philtrum, Submucous cleft hard palate, Depressed nasal bridge, Hypoplasia of th... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Narrow mouth, Broad nasal tip, High palate, Short philtrum, Long philtrum, Bulbous nose, Oligodon... OMIM:309590
Trisomy 18
Narrow mouth, Non-midline cleft lip, Choanal atresia, Microretrognathia, Narrow palate, Cleft pal... ORPHA:3380
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Long philtrum, Carious teeth, Microdontia, Micrognathia, Depressed nasal bridge, Den... ORPHA:536467
Ring Chromosome 7 Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Median cleft palate, Thin vermilion border, Wide nasal... ORPHA:1449
Jacobsen Syndrome
U-Shaped upper lip vermilion, Micrognathia, Depressed nasal bridge, Anteverted nares, Short nose OMIM:147791
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Enamel hypoplasia, Failure of eruption of permanent teeth, Anteverted nares, Cle... OMIM:272460
Rubinstein-Taybi Syndrome 1
Narrow mouth, Deviated nasal septum, High palate, Recurrent upper respiratory tract infections, N... OMIM:180849
Omodysplasia 1
Long philtrum, Wide nasal bridge, Micrognathia, Depressed nasal bridge, Malar flattening, Short nose OMIM:258315
Sponastrime Dysplasia
Obtuse angle of mandible, Hypoplasia of the nasal bone, Microdontia, Aplasia of the nasal bone, S... ORPHA:93357
Phocomelia, Schinzel Type
High, narrow palate, Cleft palate, Short nose, Micrognathia ORPHA:2879
Zttk Syndrome
Narrow mouth, High palate, Short philtrum, Bifid uvula, Wide nasal bridge, Hypoplasia of the maxi... OMIM:617140
Trisomy 8P
Recurrent upper respiratory tract infections, Bifid uvula, Thin vermilion border, Depressed nasal... ORPHA:264450
Deeah Syndrome
Narrow mouth, High palate, Narrow palate, Short philtrum, Long philtrum, Retrognathia, Prominent ... OMIM:619004
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Pierre-Robin sequence, High palate, Bifid uvula, Cleft mandible, Agenesis of mandib... OMIM:268305
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Narrow mouth, High palate, Tented upper lip vermilion, Microretrognathia, Smooth philtrum, Thin l... ORPHA:280633
C Syndrome
Accessory oral frenulum, High palate, Thin vermilion border, Long philtrum, Gingival overgrowth, ... ORPHA:1308
Molybdenum Cofactor Deficiency, Complementation Group B
Long philtrum, Short nose, Thick vermilion border OMIM:252160
Aspartylglucosaminuria
Carious teeth, Wide nasal bridge, Macroglossia, Mandibular prognathia, Abnormality of the dentiti... ORPHA:93
Geleophysic Dysplasia 2
Thin upper lip vermilion, Smooth philtrum, Long philtrum, Short nose OMIM:614185
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Hypodontia, Carious teeth, Convex nasal ridge, Supernumerary tooth, Natal tooth, D... ORPHA:353281
Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Long philtrum, Long upper lip, Micrognathia, Abnormality of the temporomandibular j... ORPHA:536471
Facial Dysmorphism With Multiple Malformations
Narrow mouth, Bulbous nose, Wide nasal bridge, Downturned corners of mouth, Short nose OMIM:227255
Fontaine Progeroid Syndrome
Narrow mouth, Long philtrum, Oligodontia, Everted lower lip vermilion, Convex nasal ridge, Microd... OMIM:612289
Geleophysic Dysplasia 1
Long philtrum, Smooth philtrum, Anteverted nares, Short nose, Wide mouth OMIM:231050
Aymé-Gripp Syndrome
Narrow mouth, Long philtrum, Oligodontia, Depressed nasal bridge, Thin upper lip vermilion, Cleft... ORPHA:1272
Arterial Tortuosity Syndrome
Malar flattening, Median cleft lip and palate, Short nose, Abnormal zygomatic bone morphology ORPHA:3342
Schinzel-Giedion Syndrome
Broad alveolar ridges, Broad nasal tip, High palate, Short philtrum, Delayed eruption of teeth, C... ORPHA:798
Molybdenum Cofactor Deficiency, Complementation Group A
Long philtrum, Short nose, Thick vermilion border OMIM:252150
Schinzel-Giedion Midface Retraction Syndrome
Choanal stenosis, Macroglossia, Depressed nasal bridge, Abnormal nasopharynx morphology, Malar fl... OMIM:269150
Simpson-Golabi-Behmel Syndrome
Cleft upper lip, Wide nasal bridge, High, narrow palate, Macroglossia, Mandibular prognathia, Ant... ORPHA:373
Bartsocas-Papas Syndrome 1
Cleft upper lip, Underdeveloped nasal alae, Micrognathia, Hypoplasia of the maxilla, Oral synechi... OMIM:263650
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Narrow palate, Hypodontia, Carious teeth, Convex nasal ridge, Supernumerary tooth, M... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Narrow palate, Hypodontia, Carious teeth, Convex nasal ridge, Supernumerary tooth, M... ORPHA:353277
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Underdeveloped nasal alae, Cleft soft palate, Supernumerary tooth, Widely spaced... ORPHA:268261
Wiedemann-Steiner Syndrome
High palate, Long philtrum, Wide nasal bridge, Thin upper lip vermilion, Short nose ORPHA:319182
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad nasal tip, Long nose, High palate, Bulbous nose, Carious teeth, Wide nasal bridge, Antevert... OMIM:619522
Okamoto Syndrome
Exaggerated median tongue furrow, Underdeveloped nasal alae, Open bite, Open mouth, Wide nasal br... ORPHA:2729
Femoral-Facial Syndrome
Long philtrum, Underdeveloped nasal alae, Micrognathia, Smooth philtrum, Thin upper lip vermilion... OMIM:134780
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, U-Shaped upper lip vermilion, Wide nasal bridge, Micrognathia, Thin vermilion border... OMIM:609945
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Long philtrum, Micrognathia, Macroglossia, Glossoptosis, Thin upper lip vermilion, A... ORPHA:444077
Noonan Syndrome 3
High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose OMIM:609942
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose ORPHA:522077
Degcags Syndrome
High palate, Long philtrum, Micrognathia, Rhinitis, Wide mouth, Short nose, Prominent nasal bridg... OMIM:619488
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Long philtrum, Micrognathia, Malar flattening, Hypoplastic philtrum, Smooth philtrum, Short colum... OMIM:218649
Jacobsen Syndrome
Abnormal palate morphology, Broad columella, Long philtrum, Wide nasal bridge, Smooth philtrum, A... ORPHA:2308
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Short nose ORPHA:3339
Peters-Plus Syndrome
Cleft upper lip, Long philtrum, Thin upper lip vermilion, Widely spaced teeth, Exaggerated cupid'... OMIM:261540
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Aplasia of the nasal bone, Short nose, Micrognathia OMIM:618820
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Micrognathia, Depressed nasal bridge, Malar flattening, Short nose OMIM:271665
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick vermilion border, Short nose, Macroglossia ORPHA:505248
Cornelia De Lange Syndrome
High palate, Thin vermilion border, Delayed eruption of teeth, Long philtrum, Widely spaced teeth... ORPHA:199
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Absence of Stensen duct, Hypodontia, Carious teeth, Conical incisor, Delayed e... OMIM:149730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow mouth, Bulbous nose, Choanal stenosis, High, narrow palate, Choanal atresia, Depressed nas... ORPHA:95699
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Short philtrum, Drooling, Bulbous nose, Ankyloglossia, Wide nasal bridge, High, narr... OMIM:619475
Acrocephalopolydactylous Dysplasia
Short nose OMIM:200995
Peters Plus Syndrome
Cleft upper lip, Long philtrum, Widely spaced teeth, Exaggerated cupid's bow, Micrognathia, Depre... ORPHA:709
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Submucous cleft soft palate, Short philtrum, Bifid uvula, Wide nasal bridge, Hypoplasia of the ma... ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Narrow palate, Submucous cleft lip, Gingival overgrowth, Wide n... OMIM:312870
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Convex nasal ridge, Smooth philtrum, Downturned corners of mouth, Short nose OMIM:619321
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Narrow mouth, High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Enamel hypopla... OMIM:619503
Williams Syndrome
Long philtrum, Open bite, Hypodontia, Carious teeth, Wide nasal bridge, Thick lower lip vermilion... ORPHA:904
Pallister-Hall Syndrome
Accessory oral frenulum, Bifid uvula, Depressed nasal ridge, Recurrent upper and lower respirator... ORPHA:672
Williams-Beuren Syndrome
Broad nasal tip, Long philtrum, Open mouth, Hypodontia, Thick lower lip vermilion, Microdontia, D... OMIM:194050
Pallister-Killian Syndrome
Bifid uvula, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Alveolar ridge overgrow... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Narrow mouth, Narrow nasal ridge, Short nose OMIM:606721
Penile Agenesis
Depressed nasal bridge, Short nose ORPHA:49
Microphthalmia, Syndromic 1
High palate, Cleft upper lip, High, narrow palate, Dental crowding, Oral cleft, Agenesis of maxil... 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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