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:
N/A

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
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Anteverted nares, Abnormality of the dentition, High palate, Microgna... ORPHA:217340
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... ORPHA:1832
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Mandibular prognathia, Short columella, Abnormality... ORPHA:1248
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, High palate, Everted lower lip vermilion, Deep philtrum,... ORPHA:261120
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Prominent n... ORPHA:1200
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep phi... OMIM:137550
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Depr... ORPHA:1906
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Everted lower lip vermilion, High palate, Micrognathia, Depressed... ORPHA:1695
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Mental Retardation With Language Impairment And With Or Without Autistic Features
Drooling, Open mouth, Short nose, Broad nasal tip, Retrognathia, Malar flattening OMIM:613670
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Pilodental Dysplasia With Refractive Errors
Conical incisor, Wide nasal bridge, Hypodontia OMIM:262020
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Thick vermilion border, Hypodontia, High palate, Micrognathia OMIM:617061
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Short nose, Microretrognathia, Abnormal palate morphology, Recurrent respiratory i... ORPHA:1389
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Micrognathia, Anteverted nares, Depress... OMIM:614744
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, High palate, Micrognathia, Short nose ORPHA:2598
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Hypoplasia of the maxilla, Depressed nasal ridge, Aplasia/Hypoplasia in... ORPHA:1529
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia, Anteverted nares OMIM:166750
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Narrow mouth, Wide nasal bridge, Cleft palate, Micrognathia OMIM:614078
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Short nose, Thin upper lip vermilion, High palate, Anteverted nares OMIM:300558
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge ORPHA:438178
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, High, narrow palate, Incisor macrodontia, Thick vermilion border, Ten... ORPHA:166108
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Thin upper lip vermilio... OMIM:616331
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue furrow, Thick l... OMIM:300602
Perlman Syndrome
Short nose, Open mouth, High, narrow palate, Smooth philtrum, Wide nasal bridge, Broad alveolar r... ORPHA:2849
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Narrow mouth, Abnormal palate morphology, Recurrent pneumonia, Micrognathia ORPHA:1495
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Intellectual Developmental Disorder, X-Linked 21
Short nose, Open mouth, Dental crowding, Mandibular prognathia, Tented upper lip vermilion OMIM:300143
Mental Retardation, Autosomal Dominant 20
Short philtrum, Short nose, Downturned corners of mouth, Anteverted nares, Depressed nasal bridge OMIM:613443
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Conical mandibular incisor, Discolored lateral incisors, Oligodontia, Widely-spaced incisors OMIM:601668
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Anteverted nares, Malar flattening, Depressed nasal bridge OMIM:613038
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Thin vermilion border, Long philtru... OMIM:257850
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Short nose, Smooth philt... OMIM:249620
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Oligodontia, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue furrow, Thick l... OMIM:300431
Chung-Jansen Syndrome
Long philtrum, Short philtrum, Thin vermilion border, Short nose, High palate, Micrognathia, Ante... OMIM:617991
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Abnormality of the dentition, Wide nasal bridge, Tria... OMIM:618529
Distal Trisomy 18Q
Carious teeth, Short nose, Abnormality of dental morphology, Choanal atresia, High palate, Promin... ORPHA:1716
Pallister-Hall-Like Syndrome
Short nose, Microglossia, Pulmonary hypoplasia, Cleft palate, Micrognathia, Median cleft lip, Dep... OMIM:241800
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Short philtrum, Short nose, Wide nasal bridge OMIM:613603
Bainbridge-Ropers Syndrome
Short nose, Dental crowding, Everted lower lip vermilion, Wide mouth, Broad nasal tip, High palat... OMIM:615485
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, High palate, Depressed nasal ... OMIM:617752
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryngeal strido... OMIM:616202
Achondrogenesis
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:932
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Dentinogenesis imperfecta, Retrognathia, Depressed nasal b... ORPHA:166272
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Oligodontia, Tooth malposition, Narrow mouth, Short nose, Abnormality of canine, Abno... ORPHA:363417
Autosomal Dominant Omodysplasia
Long philtrum, Short nose, Micrognathia, Malar flattening, Depressed nasal bridge ORPHA:93328
Fibrochondrogenesis 2
Micrognathia, Malar flattening, Short nose, Anteverted nares OMIM:614524
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Wide nasal br... OMIM:601224
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Open mouth, Short nose, Thin upper lip vermilion, High palate, Micrognathia OMIM:613604
Acromicric Dysplasia
Long philtrum, Narrow mouth, Bulbous nose, Short nose, Thick lower lip vermilion, Anteverted nares ORPHA:969
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short nose, Wide nose, Depressed nasal ridge ORPHA:2831
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Short nose, Choanal atresia, Mi... ORPHA:1895
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thin vermilion border, Short nose, Abnormal palate morphology, Deep philtrum, Thic... ORPHA:2701
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Anteverted nares, Pneumonia, Protruding tongue, Sinusit... OMIM:242860
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Short nose, Wide nasal bridge, Broad philtrum, Micrognathia, Anteverted nares OMIM:618577
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Micrognathia OMIM:615419
Pierpont Syndrome
Thin vermilion border, Short nose, Everted lower lip vermilion, Long upper lip, Smooth philtrum, ... OMIM:602342
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Baker-Gordon Syndrome
Thin upper lip vermilion, Short nose, Smooth philtrum, Prominent nasal tip OMIM:618218
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Deep philtrum, Wide mouth, Pneumonia, T... OMIM:300209
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners... ORPHA:2409
Teebi Hypertelorism Syndrome
Long philtrum, Short nose, Dental crowding, Natal tooth, Wide nasal bridge, Depressed nasal bridge OMIM:145420
Chromosome 16P13.3 Duplication Syndrome
Short nose, Malar flattening, Bulbous nose OMIM:613458
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Achondrogenesis Type 1B
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:93298
Stickler Syndrome Type 1
Long philtrum, Cleft palate, Short nose, Hypoplasia of the maxilla ORPHA:90653
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Aplasia/Hypoplasia of the lungs, Cleft palate, Micrognathia, Mala... ORPHA:2145
Miller-Dieker Syndrome
Abnormality of upper lip, Anteverted nares, Short nose ORPHA:531
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Short nose, Anteverted nares, Short columella, Laryngomalac... ORPHA:171839
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Depressed nasal ridge ORPHA:221054
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Short nose, Mandibular prognathia, Abnormal... ORPHA:1327
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Pterygium Colli, Isolated
Short nose OMIM:177990
Achondrogenesis Type 1A
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:93299
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Downturned corners of mouth, Open mouth, Everted lower lip vermilion, Broad columella... OMIM:617865
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Wide nasal bridge, Open mouth, Dental crowding OMIM:600906
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose DECIPHER:52
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Short nose, Thin upper lip vermilion, Broad nasal tip, High palate OMIM:613544
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Micrognathia, Short nose OMIM:615042
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Short nose, Widely spaced teeth, Everted lower lip vermilion, Wide mouth, Smooth p... OMIM:615873
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Bulbous nose, Short nose, Excessive salivation, Mandibular prognathia, Everted lowe... ORPHA:261144
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Short nose, Everted lower lip vermilion, Abnormality of the... ORPHA:1702
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Mandibular prognathia, Malar flattening, Depressed nasal bridge OMIM:614613
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Incisor macrodontia, Abnormality of primary teeth, Tented upper lip ve... ORPHA:438216
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate OMIM:615502
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Short nose ORPHA:2547
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Broad nasal tip OMIM:614207
Al-Raqad Syndrome
Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Downturned corners of mouth, Open mouth, Recurrent upper r... ORPHA:391372
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Bulbous nose, Underdeveloped nasal alae, Short nose, Ab... ORPHA:364577
Acrodysostosis
Open bite, Delayed eruption of teeth, Short nose, Open mouth, Mandibular prognathia, Wide nasal b... ORPHA:950
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Short nose OMIM:617183
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Micrognathia, Short nose, Thick nasal alae ORPHA:163961
Pfeiffer Syndrome
Short nose, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Cartilagin... OMIM:101600
Marshall Syndrome
Long philtrum, Absent frontal sinuses, Thick lower lip vermilion, Anteverted nares, Pierre-Robin ... OMIM:154780
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Aplasia/Hypoplasia of the Epiglottis, Short nose ORPHA:1129
Fetal Trimethadione Syndrome
High palate, Micrognathia, Short nose, Depressed nasal bridge ORPHA:1913
Meckel Syndrome, Type 8
Depressed nasal ridge, Short nose, Cleft upper lip, Cleft palate OMIM:613885
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, T... OMIM:617877
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Bulbous nose, Short nose, Tented upper lip vermilion, High palate, Depressed nasal... OMIM:614105
Cohen Syndrome
Convex nasal ridge, Short philtrum, Open mouth, Macrodontia of permanent maxillary central inciso... OMIM:216550
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short nose, Anosmia, Abnormality of the nares, Thin upper lip vermilion, Hypoplasia of the zygoma... ORPHA:1295
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Narrow mouth, Short nose, High palate, Micrognathia, Wide nose, Depressed nasal br... OMIM:613457
Trisomy 12P
Short nose, Downturned corners of mouth, Everted lower lip vermilion, Wide nasal bridge, Cleft pa... ORPHA:1699
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nasal septum, Short nose, Depressed nasal bridge OMIM:302950
Fetal Alcohol Syndrome
Short nose, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Cleft palate, Micro... ORPHA:1915
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Short nose, Wide nasal bridge, High palate, Hypoplasia of the maxilla OMIM:218000
Toluene Embryopathy
Thin vermilion border, Short nose, Smooth philtrum, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1920
Spinocerebellar Ataxia With Dysmorphism
Thick lower lip vermilion, Anteverted nares, Short nose, Downturned corners of mouth OMIM:271270
Autosomal Recessive Omodysplasia
Long philtrum, Short nose, Micrognathia, Anteverted nares, Depressed nasal bridge ORPHA:93329
Chromosome 19Q13.11 Deletion Syndrome, Distal
Thin vermilion border, Carious teeth, Short philtrum, Short nose, Underdeveloped nasal alae, Hypo... OMIM:613026
Intellectual Developmental Disorder, X-Linked 98
Short philtrum, Short nose, Underdeveloped nasal alae, Anteverted nares, Open mouth, Prominent na... OMIM:300912
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Anteverted nares, Short nose, Smooth philtrum, Thick vermilion borde... OMIM:616420
Mental Retardation, Autosomal Dominant 1
Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Wide mouth, Thin upper lip ver... OMIM:156200
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Short nose, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion, Pulmonar... ORPHA:401935
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Cleft palate, Microdontia OMIM:605282
Marshall Syndrome
Long philtrum, Short nose, Thick lower lip vermilion, Anteverted nares, Hypoplastic frontal sinus... ORPHA:560
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Cleft palate, Micrognathia, Malar flattening, Accessory oral frenulum, Hypoplasia of ... ORPHA:79113
Coffin-Siris Syndrome 9
Abnormality of the columella, Short philtrum, Short nose, Underdeveloped nasal alae, Open mouth, ... OMIM:615866
Microphthalmia With Limb Anomalies
Short nose, Deep philtrum, Flared nostrils, Cleft upper lip, Cleft palate, High palate, Retrognat... OMIM:206920
5Q14.3 Microdeletion Syndrome
Short philtrum, Anteverted nares, Short nose, Open mouth ORPHA:228384
Baraitser-Winter Syndrome 1
Long philtrum, Short nose, Wide mouth, Wide nasal bridge, Oral cleft, Thin upper lip vermilion, C... OMIM:243310
Renal And Mullerian Duct Hypoplasia
Micrognathia, Short nose OMIM:266810
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Downturned corners of mouth, Nar... ORPHA:391408
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Short nose, Mandibular prognath... ORPHA:439822
Nablus Mask-Like Facial Syndrome
Long philtrum, Narrow mouth, Short nose, Smooth philtrum, Abnormality of the dentition, Wide nasa... OMIM:608156
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Short nose, Tented upper lip vermilion ORPHA:85277
Marshall-Smith Syndrome
Short nose, Open mouth, Choanal atresia, Protruding tongue, Gingival overgrowth, Retrognathia, An... ORPHA:561
Pontocerebellar Hypoplasia, Type 10
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Thin upper lip vermilion, High palate OMIM:615803
Peho Syndrome
Retrognathia, Tented upper lip vermilion, Short nose, Open mouth OMIM:260565
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short nose, Wide mouth, Depressed nasal ridge, Micrognathia ORPHA:163966
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Bartsocas-Papas Syndrome
Narrow mouth, Underdeveloped nasal alae, Short nose, Cleft palate, Micrognathia, Median cleft lip ORPHA:1234
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Short nose, Dental crowding, High palate, Narrow maxilla, Long nose, Pneumothorax,... OMIM:617602
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Submucous cleft hard palate, ... OMIM:311450
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Microretrognathia, Abnormal palate morphology, Smooth philtrum, Abnorm... ORPHA:1786
Gms Syndrome
Short philtrum, Short nose, Depressed nasal bridge OMIM:138770
Macrocephaly/Autism Syndrome
Long philtrum, Short nose, Depressed nasal bridge OMIM:605309
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Short nose, Downturned corners of mouth, Cleft palate, High palate, Micrognathia, ... ORPHA:163649
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Cebalid Syndrome
Short nose, Depressed nasal ridge, High palate, Anteverted nares, Depressed nasal bridge OMIM:618774
Tetrasomy 18P
Long philtrum, Thin vermilion border, Narrow mouth, Short nose ORPHA:3307
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Micrognathia, Prominent nasal bridge, Short nose, Underdeveloped nasal alae ORPHA:2083
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Short nose, Pierre-Robin sequence, Abnormality of the laryn... ORPHA:1358
Jaberi-Elahi Syndrome
Short nose, Triangular mouth, Abnormality of the dentition, Depressed nasal bridge OMIM:617988
Glutamine Deficiency, Congenital
Thin vermilion border, Short nose, Wide nasal bridge, Anteverted nares, Recurrent respiratory inf... OMIM:610015
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Mandibular progn... ORPHA:369891
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Short nose, Wide nose, Hypoplasia of the maxilla OMIM:614261
Femoral-Facial Syndrome
Long philtrum, Short nose, Oral cleft, Thin upper lip vermilion, Cleft palate, Micrognathia ORPHA:1988
Waardenburg Syndrome Type 1
Short nose, Underdeveloped nasal alae, Mandibular prognathia, Tented upper lip vermilion, Wide na... ORPHA:894
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Short nose, Deep philtrum, Tented upper lip vermilion, Aspiration pneumonia, Recurrent pneumonia,... ORPHA:314655
Verheij Syndrome
Thin upper lip vermilion, Long philtrum, Short nose, Wide nasal bridge OMIM:615583
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Short nose, Mandibular prognathia, Natal tooth... OMIM:259775
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Deep philtrum, Thin upper lip vermilion, High palate, Dental malocclusion, Micrognath... ORPHA:329178
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Short nose, Taurodontia, Open mouth, Mandibula... ORPHA:819
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Narrow palate, Conical incisor, Narrow mouth, Pleural eff... OMIM:235510
Distal Trisomy 5Q
Long philtrum, Thin vermilion border, Carious teeth, Narrow mouth, Short nose, Micrognathia, Prom... ORPHA:96097
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Short nose OMIM:300887
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Short nose OMIM:618618
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Bulbous nose, Downturned corners of mouth, Short nose, Microretrognathia, Deep phi... OMIM:618571
Developmental And Epileptic Encephalopathy 75
Short philtrum, Short nose, Open mouth, Wide nasal bridge, Anteverted nares OMIM:618437
Craniofaciofrontodigital Syndrome
Long philtrum, Short nose, Abnormality of the dentition, Dental malocclusion, Anteverted nares, D... OMIM:114620
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Wide mouth, Sm... OMIM:618454
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth OMIM:234050
Cerebrooculonasal Syndrome
Prominent nasal bridge, Narrow palate, Short nose, Downturned corners of mouth, Anteverted nares,... OMIM:605627
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Choanal stenosis, Short nose, Laryngeal hypoplasia, Aplasia/Hypoplasia of the tongu... ORPHA:1790
Axial Spondylometaphyseal Dysplasia
Anteverted nares, Short nose ORPHA:168549
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Narrow mouth, Anteverted nares, Short nose, High palate, Malar flat... OMIM:219200
Antley-Bixler Syndrome
Long philtrum, Narrow mouth, Short nose, Choanal atresia, Hypoplasia of the zygomatic bone, Cleft... ORPHA:83
Vitamin K Antagonist Embryofetopathy
Macroglossia, Short nose, Choanal atresia, Anteverted nares, Depressed nasal bridge ORPHA:1914
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Open mouth, Absent nasal bridge, Microretrognathia, Short nose, Oral cleft, Long no... ORPHA:261211
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Broad nasal tip, Tongue nodules, Bifid tong... OMIM:252100
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Broad nasal tip, Downturned corners of mouth, Short nose, Mandibular prognathia, ... OMIM:239300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Short nose, Depressed nasal bridge OMIM:618961
Frontofacionasal Dysplasia
Short nose, Depressed nasal ridge, Choanal atresia, Non-midline cleft lip, Cleft palate, Bifid na... ORPHA:1791
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Long philtrum, Short nose, Wide nasal bridge, Broad nasal tip, High palate, Micrognathia, Promine... OMIM:300749
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Bulbous nose, Smooth philtrum, Prominent nasal bridge, Depressed nasal bridge OMIM:618828
Prolidase Deficiency
Short nose, Concave nasal ridge, Recurrent pneumonia, High palate, Micrognathia, Depressed nasal ... OMIM:170100
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Anteverted nares, Short nose, Diastema, Wide nasal bridge, Short upper lip, Malar f... OMIM:271960
X-Linked Intellectual Disability Due To Gria3 Mutations
Short philtrum, Narrow palate, Open mouth, Mandibular prognathia, Thick vermilion border, Macrodo... ORPHA:364028
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Short philtrum, Convex nasal ridge, Narrow mouth, Agenesis of permanent teeth, Den... ORPHA:251028
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Deep philtrum, Choanal atresia, Cleft palate, Micrognathia, Malar f... OMIM:610536
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Narrow mouth, Short nose, Dental crowding, High palate OMIM:615539
20Q11.2 Microduplication Syndrome
Tented philtrum, Short nose, Tented upper lip vermilion, Wide nasal bridge, Gingival overgrowth, ... ORPHA:363659
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Short nose ORPHA:496790
Arthrogryposis, Distal, Type 2A
Pursed lips, Long philtrum, Narrow mouth, Underdeveloped nasal alae, Dental crowding, Short nose,... OMIM:193700
Orofacial Cleft 15
Agenesis of lateral incisor, Bulbous nose, Palate fistula, Bilateral cleft palate, Bilateral clef... OMIM:616788
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Prominence of the premaxilla, Short philtrum, Short nose, Choanal... OMIM:602535
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Downturned corners of mouth, Laryngeal hypoplasia, Pierre-Robin sequence, Abnormality... OMIM:217980
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Thick vermilion border, Short nose ORPHA:833
Even-Plus Syndrome
Short nose, Hypodontia, Depressed nasal ridge, High palate, Bifid nasal tip OMIM:616854
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Short nose, Anteverted nares, Smooth philtrum, High palate, Malar flattening OMIM:601853
Craniofaciofrontodigital Syndrome
Long philtrum, Short nose, Thick vermilion border, Wide nasal bridge, Tooth agenesis, Anteverted ... ORPHA:363705
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Short nose, Microdontia, Hypoplasia of the zygomatic bone, Cle... ORPHA:1812
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Wide nasal bridge, Unilateral cleft lip, Pulmonary hypoplasia, Clef... OMIM:616897
Craniosynostosis 4
Retrognathia, Malar flattening, Short nose OMIM:600775
16P12.1P12.3 Triplication Syndrome
Long philtrum, Thin vermilion border, Bulbous nose, Short nose, High, narrow palate, Wide mouth, ... ORPHA:485405
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngeal stridor... ORPHA:444072
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Short nose, Underdeveloped nasal alae, Abnormality of the... ORPHA:2315
Smith-Kingsmore Syndrome
Long philtrum, Short nose, Open mouth, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Dep... OMIM:616638
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Deep philtrum, Anteverted nares, Wide nose, Depressed nasal bridge OMIM:613320
Cenani-Lenz Syndrome
Convex nasal ridge, Short philtrum, Abnormal dental enamel morphology, Short nose, Hypodontia, La... ORPHA:3258
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Taurodontia, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion ... OMIM:305100
Microform Holoprosencephaly
Short philtrum, Short nose, Choanal atresia, Midnasal stenosis, Tented upper lip vermilion, Oral ... ORPHA:280200
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Wide mouth, Short nose, Depressed nasal bridge OMIM:608776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Short nose, Downturned corners of mouth, Open mouth, Deep philtrum, Abnormality of... OMIM:615398
Otopalatodigital Syndrome, Type I
Narrow mouth, Short nose, Selective tooth agenesis, Wide nasal bridge, Cleft palate, Multiple imp... OMIM:311300
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Short nose, Anteverted nares, Micrognathia, Malar flattening, Depressed nasal bridge OMIM:602613
Desbuquois Dysplasia 1
Long philtrum, Narrow mouth, Short nose, Microretrognathia, Concave nasal ridge, Smooth philtrum,... OMIM:251450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Prominent nasal bridge, Bulbous nose OMIM:613870
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Thick vermilion border, Tented upper lip vermilion, Malar flattening, Depressed nasal... OMIM:616723
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Tented upper lip vermilion, Th... OMIM:618430
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Bulbous nose, Choanal atresia, Absent cupid's bow, Depressed nasal bridge ORPHA:284169
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Thin anteverted nares, Short nose, Taurodontia,... ORPHA:2710
Rhombencephalosynapsis
Short nose, Narrow mouth, Microretrognathia, Anteverted nares, Tracheoesophageal fistula ORPHA:59315
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Disorder Of Sex Development-Intellectual Disability Syndrome
Short philtrum, Thin vermilion border, Short nose, Downturned corners of mouth ORPHA:2983
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Depressed nasal ridge, Microretrognathia, Emphysema, Thick... OMIM:616835
Holoprosencephaly 7
Hypoplasia of the premaxilla, Absent nasal septal cartilage, Median cleft lip and palate, Depress... OMIM:610828
C Syndrome
Short nose, Wide mouth, Wide nasal bridge, High palate, Micrognathia, Anteverted nares, Accessory... OMIM:211750
Aarskog-Scott Syndrome
Short nose, Curved linear dimple below the lower lip, Hypodontia, Wide nasal bridge, Cleft upper ... OMIM:305400
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Short nose, Wide nasal b... OMIM:616894
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Anteverted nares, Thick vermilion border, Downturned corners of mouth ORPHA:1185
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Short nose, Downturned corners of mouth, Smooth philtrum, Wide mouth, Thin upper lip vermilion, H... OMIM:618590
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Short nose, A... ORPHA:870
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Mandibular prognathia, Subglot... OMIM:271510
Diaphanospondylodysostosis
Short nose, Depressed nasal ridge, Tracheomalacia, Pulmonary hypoplasia, Cleft palate, Micrognath... OMIM:608022
Peho Syndrome
Short nose, Open mouth, Anteverted nares, Abnormal palate morphology, Gingival overgrowth, Abnorm... ORPHA:2836
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Short nose, Low hanging columella, Thick vermilion border, Tented upper lip vermil... OMIM:619383
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Short nose, Downturned corners of mouth, Anteverted nare... ORPHA:261494
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Brachytelephalangic Chondrodysplasia Punctata
Abnormal bronchus morphology, Tracheal calcification, Broad nasal tip, Short nose, Hypoplasia of ... ORPHA:79345
Fetal Hydantoin Syndrome
Short nose, Everted lower lip vermilion, Wide mouth, Cleft palate, Depressed nasal ridge ORPHA:1912
Warburg Micro Syndrome 3
Micrognathia, Narrow palate, Short nose, Downturned corners of mouth OMIM:614222
3C Syndrome
Short nose, Wide nasal bridge, Oral cleft, Cleft palate, High, narrow palate, Micrognathia, Recur... ORPHA:7
Frontofacionasal Dysplasia
Short nose, Underdeveloped nasal alae, Midline defect of the nose, Oral cleft, Cleft upper lip, B... OMIM:229400
Pontocerebellar Hypoplasia, Type 2E
Micrognathia, Short nose, Wide nose OMIM:615851
Micro Syndrome
Short philtrum, Short nose, Wide nasal bridge, High palate, Micrognathia, Anteverted nares ORPHA:2510
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Short nose, Wide nasal bridge, Protruding tongue, Gingival overgrowth, Recurrent p... OMIM:619179
Tetrasomy 5P
Long philtrum, Short nose, Wide nasal bridge, Pulmonary hypoplasia, High palate, Micrognathia, An... ORPHA:3309
Gaucher Disease, Perinatal Lethal
Narrow mouth, Open mouth, Short nose, Everted lower lip vermilion, Depressed nasal bridge, Retrog... OMIM:608013
8P23.1 Microdeletion Syndrome
Thin vermilion border, Short nose, Wide nasal bridge, Pulmonary artery stenosis, High palate, Mic... ORPHA:251071
Pfeiffer Syndrome Type 2
Short nose, Choanal atresia, Tracheomalacia, Laryngomalacia, Cleft palate, High palate, Malar fla... ORPHA:93259
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Short nose, Smooth philtrum, Thick vermilion border, Protruding tongue, Retrognathi... OMIM:608779
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Broad uvula, B... ORPHA:2804
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth OMIM:613735
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Long philtrum, Carious teeth, Prominent nasolabial fold, Short nose, Anteverted nares, Smooth phi... ORPHA:357074
Autosomal Recessive Faciodigitogenital Syndrome
Open bite, Long philtrum, Short nose, Everted lower lip vermilion, Deep philtrum, Wide mouth, Hig... ORPHA:1974
Ruvalcaba Syndrome
Convex nasal ridge, Thin vermilion border, Narrow mouth, Short nose, Dental crowding ORPHA:3121
Prader-Willi Syndrome Due To Translocation
Carious teeth, Broad nasal tip, Downturned corners of mouth, Short nose, Everted lower lip vermil... ORPHA:177907
19P13.13 Microdeletion Syndrome
Macroglossia, Narrow mouth, Anteverted nares, Short nose, Smooth philtrum, Thin upper lip vermili... ORPHA:357001
Osteoglophonic Dysplasia
Long philtrum, Abnormal nasopharynx morphology, Anteverted nares, Short nose, Nasal congestion, M... OMIM:166250
Blomstrand Lethal Chondrodysplasia
Long philtrum, Short nose, Anteverted nares, Natal tooth, Protruding tongue, Pulmonary hypoplasia... ORPHA:50945
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Retrognathia, Short nose, Wide nasal bridge OMIM:618005
Distal Monosomy 9P
Short nose, Abnormality of the dentition, Wide nasal bridge, Cleft palate, High, narrow palate ORPHA:1642
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Eruption failure, High ... ORPHA:476126
Faciodigitogenital Syndrome, Autosomal Recessive
Prominent nasal bridge, Narrow palate, Short nose, Deep philtrum, Wide mouth, Trismus, High palat... OMIM:227330
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Short nose, Anteverted nares, Dental crowding, Wide nasal bridge, Th... OMIM:268310
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Wid... ORPHA:73223
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Underdeveloped nasal alae, Dental crowding, Thick vermilion border, Low insertion of ... OMIM:619005
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Short nose, Thick lower lip vermilion, Anteverted nares, Protruding tongue, U-Shape... OMIM:301040
Trisomy 20P
Thin vermilion border, Short philtrum, Short nose, Downturned corners of mouth, Everted lower lip... ORPHA:261318
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Narrow mouth, Short nose, Abnormality of the dentition, Micrognathia ORPHA:90154
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Narrow mouth, Short nose, Diastema, Smooth philtrum, Laryngeal stridor, Thin upper... OMIM:244450
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Glossoptosis, Short nose, Underdeveloped nasal alae ORPHA:2031
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Impaired mastication, Macrodontia of permanent maxillary central incisor ORPHA:466722
Intellectual Disability-Strabismus Syndrome
Narrow nasal ridge, Short nose, Wide mouth, Thick vermilion border, Abnormality of the dentition,... ORPHA:363528
Stuve-Wiedemann Syndrome
Pursed lips, Wide nasal base, Abnormal dental enamel morphology, Short nose, Pulmonary arterial m... OMIM:601559
16P13.11 Microdeletion Syndrome
Short nose, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Cleft upper lip, Cleft palate,... ORPHA:261236
Adenylosuccinase Deficiency
Long philtrum, Short nose, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Anteverted nares OMIM:103050
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Short nose, Thick upper lip vermilion, Wide nasal bridge, Thin upper l... OMIM:247200
Otopalatodigital Syndrome Type 2
Oligodontia, Narrow mouth, Short nose, Pierre-Robin sequence, Hypoplastic frontal sinuses, Anodon... ORPHA:90652
Robinow Syndrome
Long philtrum, Ankyloglossia, Tooth malposition, Broad nasal tip, Short nose, Dental crowding, Ma... ORPHA:97360
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Long philtrum, Short nose, Downturned corners of mouth, Malar flattening, Anteverted nares OMIM:612394
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Hypodontia ORPHA:544503
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge ORPHA:2143
Ayme-Gripp Syndrome
Long philtrum, Narrow mouth, Short nose, Mandibular prognathia, Craniofacial asymmetry, Smooth ph... OMIM:601088
Desmosterolosis
Gingival fibromatosis, Short nose, Anteverted nares, Cleft palate, Hypoplastic nasal bridge, Alve... OMIM:602398
Donnai-Barrow Syndrome
Short nose, Malar flattening, Broad nasal tip, Depressed nasal bridge OMIM:222448
Desmosterolosis
Anomalous pulmonary venous return, Narrow mouth, Short nose, Abnormality of the nose, Depressed n... ORPHA:35107
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Emphysema, Abnormality of the dentition, Hypodo... ORPHA:289
Distal Monosomy 10Q
Short nose, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion, Cleft palate, High pala... ORPHA:96148
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Hypoplasia of teeth, Agenesis of permanent teeth, Short nose, Mandibul... OMIM:268400
Hyperphosphatasia With Mental Retardation Syndrome 2
Short nose, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Broad nasal tip OMIM:614749
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Long philtrum, Macroglossia, Narrow palate, Short nose, Downturned cor... OMIM:180700
Lathosterolosis
Long philtrum, Bulbous nose, Downturned corners of mouth, Short nose, Gingival overgrowth, High p... ORPHA:46059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Long philtrum, Thin vermilion border, Short nose, Open mouth, Pulmonary hypoplasia, Cleft palate,... OMIM:614080
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Broad philtrum, Anteverted nares, Short nose OMIM:618619
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Submucous cleft soft palate, Wide nasal bridge, Cleft soft palate, Micrognathia, Ante... ORPHA:2282
Autosomal Dominant Robinow Syndrome
Open bite, Long philtrum, Oligodontia, Median cleft lip and palate, Short philtrum, Short nose, D... ORPHA:3107
Orofaciodigital Syndrome Type 4
Choanal atresia, Oral cleft, High, narrow palate, Micrognathia, Wide nose, Median cleft lip, Abno... ORPHA:2753
Chops Syndrome
Short nose, Downturned corners of mouth, Laryngomalacia, Aspiration pneumonia, Tracheal stenosis OMIM:616368
3Q29 Microdeletion Syndrome
Short philtrum, Short nose, Dental crowding, Everted lower lip vermilion, Abnormality of the dent... ORPHA:65286
Baller-Gerold Syndrome
Narrow mouth, Short nose, Cleft palate, High palate, Micrognathia, Prominent nasal bridge, Narrow... ORPHA:1225
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Wide mouth, Broad nasal tip ORPHA:293948
Cardiofaciocutaneous Syndrome 1
Open bite, Bulbous nose, Open mouth, Short nose, Deep philtrum, Abnormality of the dentition, Thi... OMIM:115150
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge OMIM:300863
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Short nose... OMIM:200990
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Bulbous nose, Short nose, Depressed nasal bridge, Micrognathia, Abnormal lung lobation OMIM:614114
Fibrochondrogenesis 1
Long philtrum, Narrow mouth, Anteverted nares, Short nose, Cleft palate, Malar flattening, Depres... OMIM:228520
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Agenesis of incisor, Bilateral cleft lip and palate... OMIM:610829
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Short nose, Anteverted nares, Triangular mouth, Cleft palate, Micrognathia, Malar ... OMIM:257300
Ctcf-Related Neurodevelopmental Disorder
Long philtrum, Thin vermilion border, Short philtrum, Pulmonary hemorrhage, Narrow mouth, Broad n... ORPHA:363611
Atelosteogenesis, Type I
Short nose, Laryngeal stenosis, Cleft palate, Micrognathia, Malar flattening, Depressed nasal bridge OMIM:108720
Non-Specific Syndromic Intellectual Disability
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Smooth philtrum, Wide na... ORPHA:528084
Dend Syndrome
Long philtrum, Anteverted nares, Short nose, Downturned corners of mouth ORPHA:79134
Cataract, Aberrant Oral Frenula, And Growth Retardation
Anteverted nares, Short nose, Accessory oral frenulum OMIM:115645
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Autosomal Recessive Robinow Syndrome
Open bite, Downturned corners of mouth, Oral cleft, Exaggerated cupid's bow, Micrognathia, Depres... ORPHA:1507
Coffin-Siris Syndrome
Wide nasal base, Delayed eruption of teeth, Short nose, Recurrent upper respiratory tract infecti... ORPHA:1465
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge ORPHA:93258
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Long philtrum, Narrow mouth, Short nose, Thin upper lip vermilion, Cleft palate, Malar flattening... OMIM:601353
Opsismodysplasia
Long philtrum, Short nose, Anteverted nares, Recurrent respiratory infections, Depressed nasal br... OMIM:258480
Musculocontractural Ehlers-Danlos Syndrome
Long philtrum, Prominent nasolabial fold, Narrow mouth, Short nose, Microretrognathia, Thin upper... ORPHA:2953
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Atelectasis, Bif... ORPHA:1401
Alkuraya-Kucinskas Syndrome
High palate, Anteverted nares, Short nose, Depressed nasal bridge OMIM:617822
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long philtrum, Drooling, Narrow mouth, Open mouth, Bulbous nose, Short nose, Long nose, Laryngotr... ORPHA:508533
Trisomy 10P
Thin vermilion border, Short nose, Abnormality of the nose, Oral cleft, Abnormal lip morphology, ... ORPHA:171929
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, High palate, Wide nasal bas... ORPHA:79500
Cerebrofaciothoracic Dysplasia
Short nose, Wide mouth, Cleft upper lip, Cleft palate, Broad philtrum, Wide nose ORPHA:1394
Pfeiffer Syndrome Type 3
Short nose, Choanal atresia, Tracheomalacia, Laryngomalacia, Cleft palate, High palate, Depressed... ORPHA:93260
Stickler Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Short nose, Anteverted... ORPHA:828
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Short nose, Abnormal palate morphology, Microdontia, Anteverted nares, Depressed na... ORPHA:2719
Mietens Syndrome
Short nose, Wide nose, Wide nasal bridge ORPHA:2557
Pallister-Hall Syndrome
Abnormal lung lobation, Bifid epiglottis, Short nose, Natal tooth, Choanal atresia, Laryngeal cle... OMIM:146510
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Monosomy 9P
Long philtrum, Narrow mouth, Anteverted nares, Short nose, Choanal atresia, Abnormality of the de... ORPHA:261112
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Short nose, Micrognathia, Gingival overgrowth, Cleft palate, Cleft upper lip, High palate, Microd... OMIM:213980
Microlissencephaly-Micromelia Syndrome
Long philtrum, Short nose ORPHA:50810
Achondrogenesis, Type Ia
Anteverted nares, Short nose, Depressed nasal bridge OMIM:200600
Menke-Hennekam Syndrome 1
Long philtrum, Short philtrum, Agenesis of permanent teeth, Underdeveloped nasal alae, Recurrent ... OMIM:618332
Lathosterolosis
Long philtrum, Thin vermilion border, Short nose, Thick upper lip vermilion, Wide nasal bridge, G... OMIM:607330
Witteveen-Kolk Syndrome
Prominent nasal bridge, Long philtrum, Thin vermilion border, Narrow mouth, Open mouth, Underdeve... OMIM:613406
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Short nose, Smooth philtrum, Tented upper lip vermilion, High palate, Micrognathia OMIM:617527
Opsismodysplasia
Recurrent respiratory infections, Short nose, Depressed nasal bridge ORPHA:2746
Plaa-Associated Neurodevelopmental Disorder
Long philtrum, Short nose, Smooth philtrum, Tented upper lip vermilion, High palate, Micrognathia ORPHA:521426
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Downturned corners of mouth, Everted lower lip vermilion, Protruding to... ORPHA:96147
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Narrow mouth, Odontogenic keratocysts of the jaw, Short... ORPHA:77301
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Carious teeth, Short nose, Dentinogenesis imperfecta, Tracheomalacia, Atelectasis,... ORPHA:536467
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, Downturned corners of mouth, Anteverted nares, Short nose, Absent ethmoidal sinuses... OMIM:211910
Bloom Syndrome
Agenesis of maxillary lateral incisor, Bronchiectasis, Recurrent upper respiratory tract infectio... OMIM:210900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Short nose, Thin upper lip vermilion, High palate, Impaired mastication, Submucous... ORPHA:457279
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Thin vermilion border, Short nose, Everted lower lip vermilion, Wide nasal bridge,... ORPHA:1519
Robin Sequence With Cleft Mandible And Limb Anomalies
Abnormal aryepiglottic fold morphology, Narrow mouth, Microretrognathia, Cleft lower alveolar rid... OMIM:268305
Khan-Khan-Katsanis Syndrome
Micrognathia, Triangular mouth, Short nose, Tented upper lip vermilion OMIM:618460
Omodysplasia 1
Long philtrum, Short nose, Wide nasal bridge, Pulmonary artery stenosis, Micrognathia, Malar flat... OMIM:258315
Bannayan-Riley-Ruvalcaba Syndrome
Long philtrum, Narrow palate, Short nose, Micrognathia, Anteverted nares, Wide nose ORPHA:109
Sponastrime Dysplasia
Hypoplasia of the nasal bone, Short nose, Mandibular prognathia, Aplasia of the nasal bone, Subgl... ORPHA:93357
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short nose, Thick vermilion border, Abnormality of the dentition, Tented upper lip vermilion, Inc... ORPHA:457395
Jacobsen Syndrome
Short nose, U-Shaped upper lip vermilion, Micrognathia, Anteverted nares, Recurrent respiratory i... OMIM:147791
Cardiofaciocutaneous Syndrome
Long philtrum, Short nose, Submucous cleft hard palate, Hypoplasia of the zygomatic bone, High pa... ORPHA:1340
Phocomelia, Schinzel Type
Short nose, Cleft palate, High, narrow palate, Micrognathia, Tracheoesophageal fistula ORPHA:2879
Trisomy 8P
Abnormal lung lobation, Thin vermilion border, Short nose, Recurrent upper respiratory tract infe... ORPHA:264450
Warburg Micro Syndrome 2
Prominent nasal bridge, Short nose OMIM:614225
Trisomy 18
Narrow palate, Narrow mouth, Short nose, Microretrognathia, Choanal atresia, Non-midline cleft li... ORPHA:3380
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Convex nasal ridge, Talon cusp, Narrow palate, Narrow mouth, Deviated nasal se... OMIM:180849
Ring Chromosome 7 Syndrome
Thin vermilion border, Short philtrum, Narrow naris, Narrow mouth, Anteverted nares, Short nose, ... ORPHA:1449
Zttk Syndrome
Thin vermilion border, Short philtrum, Unilateral lung agenesis, Narrow mouth, Downturned corners... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Long philtrum, Oligodontia, Short philtrum, Narrow mouth, Thick lower lip vermilion, Bulbous nose... OMIM:309590
Aspartylglucosaminuria
Macroglossia, Carious teeth, Short nose, Mandibular prognathia, Abnormality of the dentition, Thi... ORPHA:93
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Narrow mouth, Short nose, Microretrognathia, Peripheral pulmonary artery stenosis, Smooth philtru... ORPHA:280633
Deeah Syndrome
Long philtrum, Short philtrum, Narrow palate, Narrow mouth, Short nose, Prominent nasal tip, High... OMIM:619004
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Failure of eruption of permanent teeth, Short nose, Cleft palate, Broad nasal ... OMIM:272460
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Convex nasal ridge, Talon cusp, Carious teeth, Narrow palate, Dental crowding, Natal tooth, Pneum... ORPHA:353281
C Syndrome
Long philtrum, Thin vermilion border, Short nose, Smooth philtrum, Gingival overgrowth, Cleft pal... ORPHA:1308
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Long philtrum, Oligodontia, Convex nasal ridge, Narrow mouth, Sho... OMIM:612289
Molybdenum Cofactor Deficiency, Complementation Group B
Long philtrum, Thick vermilion border, Short nose OMIM:252160
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Short philtrum, Short nose, Downturned corners of mouth, Dental crowding, Choanal atresia, Smooth... OMIM:301044
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short philtrum, Macroglossia, Recurrent pneumonia, Short nose, Choanal... ORPHA:798
Geleophysic Dysplasia 2
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Short nose OMIM:614185
Geleophysic Dysplasia 1
Long philtrum, Short nose, Wide mouth, Smooth philtrum, Tracheal stenosis, Anteverted nares OMIM:231050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Convex nasal ridge, Talon cusp, Carious teeth, Narrow palate, Dental crowding, Laryngeal cartilag... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Convex nasal ridge, Talon cusp, Carious teeth, Narrow palate, Dental crowding, Laryngeal cartilag... ORPHA:353277
Aymé-Gripp Syndrome
Long philtrum, Oligodontia, Narrow mouth, Short nose, Thin upper lip vermilion, Cleft palate, Dep... ORPHA:1272
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Macroglossia, Short nose, Downturned corners of mouth, Tracheomalacia, Laryngomala... ORPHA:444077
Arterial Tortuosity Syndrome
Median cleft lip and palate, Short nose, Abnormality of the zygomatic bone, Pulmonary artery sten... ORPHA:3342
Facial Dysmorphism With Multiple Malformations
Short nose, Narrow mouth, Downturned corners of mouth, Bulbous nose, Wide nasal bridge OMIM:227255
Molybdenum Cofactor Deficiency, Complementation Group A
Long philtrum, Thick vermilion border, Short nose OMIM:252150
Bartsocas-Papas Syndrome 1
Short nose, Underdeveloped nasal alae, Oral synechia, Cleft upper lip, Cleft palate, Micrognathia... OMIM:263650
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Abnormal nasopharynx morphology, Choanal stenosis, Short nose, Malar flattening, An... OMIM:269150
Simpson-Golabi-Behmel Syndrome
Macroglossia, Short nose, Mandibular prognathia, Wide mouth, Wide nasal bridge, Cleft upper lip, ... ORPHA:373
Okamoto Syndrome
Open bite, Short nose, Downturned corners of mouth, Open mouth, Underdeveloped nasal alae, Tented... ORPHA:2729
Wiedemann-Steiner Syndrome
Long philtrum, Short nose, Wide nasal bridge, Thin upper lip vermilion, High palate ORPHA:319182
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Short nose, Laryngeal hypoplasia ORPHA:3339
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Tracheal calcification, Short nose, Recurrent pneumonia, High palate, Micrognathia, Malar flatten... OMIM:271665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short nose, Underdeveloped nasal alae, Supernumerary tooth, Broad nasal tip, Cleft soft palate, R... ORPHA:268261
Noonan Syndrome 3
High palate, Anteverted nares, Short nose, Hypoplastic nasal bridge OMIM:609942
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Short nose, Smooth philtrum, Laryngomalacia, Thin upper lip vermilion, Prominent nasal tip ORPHA:522077
Jacobsen Syndrome
Long philtrum, Short nose, Abnormal palate morphology, Smooth philtrum, Wide nasal bridge, Broad ... ORPHA:2308
Femoral-Facial Syndrome
Long philtrum, Short nose, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, ... OMIM:134780
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Short nose, Pulmonary hypoplasia OMIM:200995
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Long philtrum, Thin vermilion border, Short nose, Short columella, Smooth philtrum, Hypoplastic p... OMIM:218649
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Macroglossia, Recurrent respiratory infections, Thick vermilion border ORPHA:505248
Peters-Plus Syndrome
Long philtrum, Thin vermilion border, Agenesis of maxillary lateral incisor, Thin upper lip vermi... OMIM:261540
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Aplasia of the nasal bone, Micrognathia, Short nose OMIM:618820
Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Narrow mouth, Short nose, Long upper lip, Abnormality of the temporomandibular joi... ORPHA:536471
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Short nose, Wide nasal bridge, U-Shaped upper lip vermilion, High palate, ... OMIM:609945
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Delayed eruption of primary teeth, Carious teeth, Hypodontia, Xerostomia, Abse... OMIM:149730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow mouth, Choanal stenosis, Bulbous nose, Short nose, Choanal atresia, High, narrow palate, D... ORPHA:95699
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Macroglossia, Short nose, Submucous cleft lip, Wide mouth, Wide nasal bri... OMIM:312870
Peters Plus Syndrome
Long philtrum, Short nose, Short columella, Abnormal pulmonary vein morphology, Wide mouth, Thin ... ORPHA:709
Acromesomelic Dysplasia, Maroteaux Type
Short nose OMIM:602875
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Cornelia De Lange Syndrome
Delayed eruption of teeth, Thin vermilion border, Long philtrum, Short nose, Downturned corners o... ORPHA:199
Williams Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Carious teeth, Macroglossia, Short n... ORPHA:904
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short philtrum, Thin vermilion border, Unilateral lung agenesis, Short nose, Downturned corners o... ORPHA:500150
Pallister-Hall Syndrome
Bifid epiglottis, Short nose, Depressed nasal ridge, Recurrent upper and lower respiratory tract ... ORPHA:672
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Short nose, Downturned corners of mouth, Smooth philtrum, Cleft soft palate OMIM:619321
Williams-Beuren Syndrome
Long philtrum, Short nose, Open mouth, Anteverted nares, Peripheral pulmonary artery stenosis, Hy... OMIM:194050
Penile Agenesis
Short nose, Pulmonary hypoplasia, Bilateral lung agenesis, Tracheoesophageal fistula, Depressed n... ORPHA:49
Pallister-Killian Syndrome
Delayed eruption of teeth, Long philtrum, Macroglossia, Short nose, Everted lower lip vermilion, ... OMIM:601803
Microphthalmia, Syndromic 1
Agenesis of maxillary lateral incisor, Tooth malposition, Dental crowding, Oral cleft, Pulmonary ... 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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