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Gene: Wiz MGI:1332638

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Gene Summary

Name:
widely-interspaced zinc finger motifs
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thoracic cage shape Wizem1(IMPC)Ccpcz HET Early adult 3.44×10-07
abnormal tooth morphology Wizem1(IMPC)Ccpcz HET Early adult 2.49×10-09
preweaning lethality, complete penetrance Wizem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal retina morphology Wizem1(IMPC)Ccpcz HET Early adult 3.49×10-08
increased blood urea nitrogen level Wizem1(IMPC)Ccpcz HET Early adult 2.56×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Human diseases caused by Wiz 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 Wiz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Thin upper lip vermilion, Epicanthus, Short nose, Cleft palate ORPHA:2015
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Ankyloblepharon, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, Thick eyebrow, Short philtrum, Epicanthus, High p... ORPHA:217340
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Ab... ORPHA:1200
Syngnathia
Cleft palate OMIM:119550
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Epicanthus, Thin... ORPHA:1906
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Cleft ala nasi, Convex nasal ridge, No... ORPHA:2007
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Highly arched eyebrow, Sparse lateral eyebrow, Long philtrum, Narrow mout... ORPHA:261120
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Megaepiphyseal Dwarfism
Epicanthus, Cleft palate OMIM:249230
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Epicanthus, High palate, Short nose OMIM:300577
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Narrow mouth, Everted lower lip vermilion, Blepharophimosis, Cleft palate ORPHA:2016
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Exaggerated cupid's bow, Epicanthus, Promi... ORPHA:502430
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Thick eyebrow, Microdontia, T... OMIM:619736
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Upslanted p... OMIM:617752
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Potocki-Shaffer Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Downslanted palpebral fissu... OMIM:601224
Non-Distal Duplication 10Q
Depressed nasal bridge, Downslanted palpebral fissures, Blepharophimosis, Convex nasal ridge, Eve... ORPHA:1695
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Thin upper lip vermilion, Smooth ph... ORPHA:438178
Fg Syndrome 5
Depressed nasal bridge, Long philtrum, Diastema, Anteverted nares, Upslanted palpebral fissure, E... OMIM:300581
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Frontofacionasal Dysplasia
Tessier cleft, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, A... ORPHA:1791
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Intrauterine growth retardation, Gingival overgrowth, Anteverted nares, Me... ORPHA:1832
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Open mouth, Tented upper l... OMIM:614744
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose, Cleft palate, Downslanted palpebral fissures OMIM:612913
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Downslanted... ORPHA:1529
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Tooth agenesis, Open bite, Short columella, Microd... ORPHA:1248
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Intraut... OMIM:613604
Tetrasomy 12P
Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe... ORPHA:884
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Anencephaly 2
Short palpebral fissure, Median cleft palate, Median cleft upper lip, Bifid nose, Cleft maxillary... OMIM:619452
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Meckel diverticulum, Long philtrum, Upslanted palpebral f... OMIM:190440
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar flattening,... OMIM:616108
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose, Synophrys DECIPHER:52
17P13.3 Microduplication Syndrome
Downslanted palpebral fissures, Narrow mouth, High palate, Short nose, Wide nose ORPHA:217385
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wide mouth,... ORPHA:2429
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Bulbous nose, Long eyelashes, Anteverted nares, Abnorma... ORPHA:969
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Abnorma... ORPHA:1897
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Underdeveloped nasal alae, Intrauterine growth retardation, Thin upper lip... OMIM:611867
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Broad nasal tip, Upslanted palpebral fissure, Cleft palate, Synophrys OMIM:300263
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Epicanthus, Thick... OMIM:618506
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Short philtrum, Epic... OMIM:617991
Zechi-Ceide Syndrome
Wide nasal bridge, Short palpebral fissure, Underdeveloped nasal alae, Cleft upper lip, Oligodont... OMIM:612916
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Long philtrum, Short nose, High palate ORPHA:2598
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bulbous nose, Long... OMIM:618828
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares, Ptosis, Cleft palate OMIM:616784
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose OMIM:200130
Pai Syndrome
Depressed nasal bridge, Nasal polyposis, Bifid uvula, Downslanted palpebral fissures, Telecanthus... ORPHA:1993
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Oculomaxillofacial Dysostosis
Wide nasal bridge, Tessier cleft, Abnormality of the dentition, Abnormality of the nose, Underdev... ORPHA:1794
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Pierpont Syndrome
Broad nasal tip, Unilateral narrow palpebral fissure, Widely spaced teeth, Telecanthus, Prominent... OMIM:602342
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Widely spaced teeth, An... OMIM:249620
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Prominent nasal bridge, Upslanted palpebral fissure, Thin upper l... OMIM:613544
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Long philtrum, Tooth agenes... ORPHA:1252
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Narrow mouth, Abnormal palate morphology, Death in infancy, Shor... ORPHA:1495
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Upslanted palpebral fissure, Thin... OMIM:615716
Miller-Dieker Syndrome
Epicanthus, Anteverted nares, Abnormal upper lip morphology, Short nose ORPHA:531
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Lowry-Maclean Syndrome
Intrauterine growth retardation, Cleft palate, Delayed eruption of teeth, Convex nasal ridge OMIM:600252
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Open mouth, Short nose, Downslanted palpebral fissures OMIM:613670
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Anteverted nares, Abnormal upper lip morphology, Open mou... ORPHA:2849
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Orofaciodigital Syndrome Xix
Wide nasal bridge, Bifid nasal tip, Narrow palate, Carious teeth, Downturned corners of mouth, Un... OMIM:620107
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Blephar... OMIM:611936
Fetal Alcohol Syndrome
Intrauterine growth retardation, Telecanthus, Anteverted nares, Microdontia, Thin upper lip vermi... ORPHA:1915
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short palpebral fissure, Highly arched eyebrow, Delayed eruption of teeth... OMIM:615866
Tetrasomy 18P
Long philtrum, Downslanted palpebral fissures, Narrow mouth, Epicanthus, Thin vermilion border, S... ORPHA:3307
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Open mouth, Upslanted palpebral fissure, Tented upper lip vermilion, Short nose,... OMIM:300143
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Downslanted palpebral fissures, Bulbous nose, Telecanthus, Almond-shaped palpe... OMIM:620292
Frontonasal Dysplasia 3
Wide nasal bridge, Tessier cleft, Underdeveloped nasal alae, Sparse eyelashes, Upper eyelid colob... OMIM:613456
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Bencze Syndrome
Open bite, Telecanthus, Upslanted palpebral fissure, Submucous cleft hard palate ORPHA:1241
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Upslanted palpeb... OMIM:300558
Treacher Collins Syndrome 4
Choanal stenosis, Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissures OMIM:618939
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Long nasal bridge, Narrow mouth, Upslanted palpebral fissure, Epicanthus,... OMIM:162100
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, ... ORPHA:1327
Fetal Trimethadione Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Epicanthus, Ptosis, High palate, Short n... ORPHA:1913
5Q14.3 Microdeletion Syndrome
Anteverted nares, Thick eyebrow, Open mouth, Upslanted palpebral fissure, Short philtrum, Short nose ORPHA:228384
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Sparse or absent eyelashes, Narr... ORPHA:1234
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Atte... OMIM:217080
Mosaic Trisomy 14
Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Ectopic anus, Ptosis, Blepharophimos... ORPHA:1703
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Orofacial Cleft 15
Sparse eyebrow, Palate fistula, Bulbous nose, Upslanted palpebral fissure, Sparse eyelashes, Bila... OMIM:616788
Baker-Gordon Syndrome
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Smooth philtrum, Short nose OMIM:618218
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory t... OMIM:616898
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Intrauterine growth retardation, Narrow mouth, Short nose ORPHA:2370
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Upslanted palpebral fissur... OMIM:613443
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Telecanthus, Median cleft upper lip, High palate, Cleft palate OMIM:300484
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Neonatal death, Cleft palate OMIM:615524
Rapadilino Syndrome
High, narrow palate, Sparse eyebrow, Sparse eyelashes, Blepharophimosis, Narrow palpebral fissure... OMIM:266280
Peho-Like Syndrome
Epicanthus, Open mouth, Short nose OMIM:617507
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Telecanthus, Thick eyebrow, Tented... ORPHA:894
Hartsfield Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Intrauterine growth retardation, Telecant... ORPHA:2117
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Eyelid coloboma, Bilateral cleft palate, Abnormal nasal morpholog... ORPHA:1104
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Thick eyebrow, Everted lower lip vermilion, Thin ver... ORPHA:1702
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Epicanthu... ORPHA:2701
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Highly arched eyebrow, Downslanted palpebral fissu... OMIM:618774
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Intestinal malrotation, Promine... ORPHA:401935
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Frontofacionasal Dysplasia
Bifid uvula, Ankyloblepharon, Underdeveloped nasal alae, Cleft upper lip, Midline defect of the n... OMIM:229400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Short palpebral fissure, Microglossia, Underdeveloped nasal alae, Bulbous ... ORPHA:364577
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Downslanted palpebral fissures, Tented upper lip vermilion, High palate, Cleft... OMIM:618388
Thomas Syndrome
Cleft palate, Cleft upper lip, Downslanted palpebral fissures ORPHA:3316
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Optic disc coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongu... ORPHA:1790
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Macroglossia, Downslanted palpebral fissures, Bulbous nose, Tented upper ... ORPHA:261144
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Ankyloblepharon, Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Burn-Mckeown Syndrome
Choanal atresia, Short palpebral fissure, Bifid uvula, Bilateral choanal atresia, Underdeveloped ... OMIM:608572
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Anteverted nares, Cleft palate, Pierre-Robin sequence OMIM:184840
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Baraitser-Winter Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Chorioretinal coloboma, Long philtrum, Cleft upper lip,... OMIM:243310
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Narrow mouth, Death in infancy, Cleft palate ORPHA:93946
Fetal Hydantoin Syndrome
Depressed nasal ridge, Intrauterine growth retardation, Wide mouth, Epicanthus, Ptosis, Everted l... ORPHA:1912
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Orofacial cleft, Blepharophimosis, Widely-spaced maxill... OMIM:601349
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Highly arched eyebrow, Bifid uvula, Thick lower lip vermilion, Long eyela... OMIM:617412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Epicanthu... OMIM:614069
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Narrow mouth, Upper eyelid coloboma, Broad... ORPHA:398156
Acrocephalopolydactyly
Depressed nasal ridge, Epicanthus, Short nose ORPHA:221054
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Highly arched eyebrow, Hypodontia, High palate, Anal atre... OMIM:616854
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Long eyelashes, Broad philtrum, Short nose OMIM:618577
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Median cleft upper lip, Ptosis,... OMIM:142946
Coffin-Siris Syndrome 3
Depressed nasal bridge, Long philtrum, Long eyelashes, Intrauterine growth retardation, Anteverte... OMIM:614608
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Highly arched eyebrow, Velopharyngeal insufficiency, Long philtrum, Bilateral ... OMIM:614701
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares... OMIM:618529
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Branchial cyst, Long philtrum, Intrauterine growth retardatio... OMIM:615583
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Heimler Syndrome 1
Amelogenesis imperfecta, Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia OMIM:234580
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Bulbous nose, Anteverted n... OMIM:614105
Microform Holoprosencephaly
Choanal atresia, Intrauterine growth retardation, Narrow nasal bridge, Anteverted nares, Tented u... ORPHA:280200
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Macular dystrophy, Hypercalcemi... ORPHA:251004
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Thick eyebrow, Epicanthus, Everted lower lip verm... ORPHA:1699
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Long philtrum, Downslanted palpebral ... OMIM:617061
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... ORPHA:1716
Braddock-Carey Syndrome 2
Downslanted palpebral fissures, Bulbous nose, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Long philtrum, Downslanted palpebral fissures, Long eyelashes, ... OMIM:620250
Coffin-Siris Syndrome 11
Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Bulbous nose, Cleft soft palate... OMIM:618779
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Horizontal eyebrow, Downturned corners of mouth, Long philtrum, Ret... OMIM:618571
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Telecan... OMIM:619383
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Death in infancy, Median cleft upper lip, Short nose, Cleft... OMIM:241800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Horizontal eyebrow, Downturned corners of mouth, Widel... ORPHA:369891
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Abnormality of the dentition, Widely spaced primary teeth,... ORPHA:90321
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Death in infancy, Short nose OMIM:615042
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Downs... ORPHA:391372
Leukodystrophy, Hypomyelinating, 10
Prominent eyelashes, Long philtrum, Downslanted palpebral fissures, Bulbous nose, Anteverted nare... OMIM:616420
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Natal tooth, Dental crowding, L... OMIM:145420
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Short palpebral fissure, Sparse eyebrow, Carious teeth, Underdeveloped nasal a... OMIM:613026
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Short nose ORPHA:1389
Microcephaly 30, Primary, Autosomal Recessive
Intrauterine growth retardation, Cleft soft palate, Thin upper lip vermilion, Long palpebral fiss... OMIM:620183
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Thin vermilion borde... OMIM:610015
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Anteverted nares, Narrow mouth, Thin vermilion bord... ORPHA:1895
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short nose OMIM:612563
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Downslanted palpebral fissures, Telecanthus, Narrow mouth, High p... OMIM:615539
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Craniodigital-Intellectual Disability Syndrome
Long eyelashes, Narrow nasal bridge, Thick eyebrow, Short nose ORPHA:1514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Intrauterine growth retardation, Epicanthus, Short nose OMIM:616910
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short palpebral fissure, Long philtrum, Bulbous nose, Intrauterine growth re... ORPHA:485405
Bamforth-Lazarus Syndrome
Bilateral choanal atresia, Cleft palate OMIM:241850
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mo... OMIM:615419
Distal Deletion 9P
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Upslanted palpebral fissure... ORPHA:1642
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Bainbridge-Ropers Syndrome
Epicanthus, Everted lower lip vermilion, High palate, Short nose, Broad nasal tip, Downslanted pa... OMIM:615485
Schilbach-Rott Syndrome
Bifid uvula, Prominent nose, Narrow mouth, Upslanted palpebral fissure, Submucous cleft hard pala... OMIM:164220
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ... OMIM:616331
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Downslanted palpebral fissures, Anteverted nares, Telecanthus, Upslanted palpebr... OMIM:610536
Carey-Fineman-Ziter Syndrome
Long philtrum, Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, Anteverted nares... ORPHA:1358
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Open mouth, Upslanted palpebral fissure, Short philtrum, Sho... OMIM:618437
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Short palpebral fissure, Chorioretinal coloboma, Downsla... ORPHA:284169
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Long palpeb... ORPHA:163649
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
16P11.2P12.2 Microdeletion Syndrome
Downslanted palpebral fissures, Bulbous nose, Intrauterine growth retardation, Anteverted nares, ... ORPHA:261211
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:619854
46,Xy Sex Reversal 4
Long philtrum, Elevated circulating creatinine concentration, Micrognathia, Increased blood urea ... OMIM:154230
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters OMIM:226650
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Tessier cleft, Cleft upper lip, Tele... OMIM:607597
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Congenital Disorder Of Glycosylation, Type 2V
Wide nasal bridge, Underdeveloped nasal alae, Downslanted palpebral fissures, Bulbous nose, Thin ... OMIM:619493
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Anterior open-b... OMIM:617877
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Pierre-Robin sequence, Submucous cleft hard palate, Downslanted palpeb... OMIM:192445
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Downturned corners of mouth, Cleft upp... OMIM:239300
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Short nose ORPHA:90653
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Sparse lateral eyebrow, Downslanted palpebral fissures, Anteverted nares,... ORPHA:314655
Mandibulofacial Dysostosis-Microcephaly Syndrome
Telecanthus, Upslanted palpebral fissure, Epicanthus, Cleft palate, Short nose, Accessory oral fr... ORPHA:79113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Upslanted palpebra... OMIM:614749
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Cleft palate, Convex nasal ridge, Short nose ORPHA:2145
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Short palpebral fissure, Cleft upper lip, Downslanted pa... OMIM:206920
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Long philtrum, Anteverted nares, Short columella, Blepharophimosis, Thin ... ORPHA:171839
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Intrauterine growth r... ORPHA:391408
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Intrauterine growth retardation, Anteverted nares, Macro... ORPHA:1914
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Blepharophimosis, Short nose ORPHA:99688
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Cleft palate, Short nose OMIM:613885
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Bifid uvula, Downturned corners... ORPHA:404440
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Sparse eyebrow, Highly arched eyebrow, Abnormality of t... ORPHA:178303
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Broad columella, Downturned corners of mouth, Wide... OMIM:617865
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Telecanthus, Thin upper lip vermilion, Abnormal nostril morphology, Short nose, Synophrys ORPHA:1295
Orofaciodigital Syndrome Ix
Bifid nasal tip, Abnormality of the dentition, Broad nasal tip, Retinal coloboma, Telecanthus, Me... OMIM:258865
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth, Sho... OMIM:619356
Acrofrontofacionasal Dysostosis
Broad nasal tip, Non-midline cleft of the upper lip, Downslanted palpebral fissures, Eyelid colob... ORPHA:1784
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Anteriorly pl... ORPHA:2315
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Downslanted palpebral fissures, Antev... ORPHA:363659
Cerebrooculonasal Syndrome
Narrow palate, Sparse eyebrow, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted ... OMIM:605627
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Popliteal pterygium, Downslanted palpebral fissures, Median cleft palate,... OMIM:119800
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, S... ORPHA:166272
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Intestinal malro... OMIM:618316
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Anteverted nares, Epicanthus, Ptosis, Thick vermilion border, Short ... ORPHA:1185
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, High palate, Increased blood urea ... OMIM:223360
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Widely spaced teeth, Bulbous... OMIM:615803
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Sparse eyebrow, Highly arched... OMIM:608156
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Talon cusp, Pyloric stenosis, Downturned corners of mouth, ... ORPHA:2409
White-Kernohan Syndrome
Depressed nasal bridge, Short palpebral fissure, Horizontal eyebrow, Rectovaginal fistula, Underd... OMIM:619426
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Wide nose, Wide mouth, Epicanthus... ORPHA:1394
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Upslanted... OMIM:619833
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Ruvalcaba Syndrome
Dental crowding, Downslanted palpebral fissures, Intrauterine growth retardation, Narrow mouth, P... ORPHA:3121
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Anteverted nares, Exaggerated cupid's bow,... OMIM:618619
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent eyelashes, Long philtrum, Prominent nasal bridge, Gingival overgrowt... OMIM:619179
Diprosopus
Cleft palate, Abnormality of the nose, Non-midline cleft of the upper lip ORPHA:1681
Femoral-Facial Syndrome
Long philtrum, Upslanted palpebral fissure, Thin upper lip vermilion, Orofacial cleft, Short nose... ORPHA:1988
Orofaciodigital Syndrome X
Depressed nasal bridge, Telecanthus, Cleft palate OMIM:165590
Oculodentodigital Dysplasia
Short palpebral fissure, Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Clef... OMIM:164200
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Cleft palate, Narrow mouth, Short nose OMIM:614078
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Intrauterine growth retardation, Death in infancy, Short philtrum, Wide mo... ORPHA:163966
Braddock-Carey Syndrome 1
Wide nasal bridge, Anteriorly placed anus, Downslanted palpebral fissures, Anteverted nares, Tele... OMIM:619980
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Dental crowding, Downslanted palpebral fissures, Choanal... OMIM:101600
Holoprosencephaly 11
Cleft lip, Thick eyebrow, Cleft palate, Synophrys OMIM:614226
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Highly arched eyebrow, Abnormality of the dentition, Intrauterine growth ... ORPHA:363528
Periventricular Nodular Heterotopia 7
Dental crowding, Anteverted nares, Narrow mouth, Short nose, Cleft palate, Pierre-Robin sequence OMIM:617201
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,... OMIM:617602
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Highly arched eyebrow, Natal tooth, Downslanted palpebra... OMIM:259775
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Cleft lip, Cleft palate OMIM:612370
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal tip, Prominent nose, Cleft soft ... ORPHA:293725
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Short palpebral fissure, Highly arched eyebrow, Dental crowding, Underdev... OMIM:619005
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Chorioretinal coloboma, Anteverted nares, Ptosis, Blepharophimosis, Gl... ORPHA:2031
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Open mouth, Tented upper lip v... OMIM:618430
Toluene Embryopathy
Short palpebral fissure, Epicanthus, Smooth philtrum, Thin vermilion border, Short nose ORPHA:1920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Epicanthus, Short nose, Wide nose ORPHA:2831
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Long philtrum, Short nose OMIM:300887
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Downslanted palpebral fissures, Anteverted nares, Wide m... ORPHA:261236
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissures, Tooth... ORPHA:1786
Nager Syndrome
Non-midline cleft of the upper lip, Downslanted palpebral fissures, Lower eyelid coloboma, Abnorm... ORPHA:245
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Abnormality of the dentition, Long phi... ORPHA:560
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Narrow mouth, C... ORPHA:83
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Unilateral cleft lip, Depressed nasal tip, Midline d... OMIM:610828
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Hyposmia, Bifid nose, Cleft palate OMIM:614838
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Short palpebral fissure, Downturned corners of mouth, Anteriorly placed a... OMIM:217980
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Narrow naris, Telecanthus, Short nose OMIM:122880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Epicanthus, Macroglossia, Short nose OMIM:242860
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose, Synophrys ORPHA:2983
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Cleft upper lip, Anteverted nares, Open mouth, Upslant... ORPHA:819
Peho Syndrome
Tented upper lip vermilion, Epicanthus, Open mouth, Short nose OMIM:260565
Smith-Kingsmore Syndrome
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Open mouth, Thin upper lip... OMIM:616638
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Aase-Smith Syndrome I
Ptosis, Open mouth, Death in infancy, Cleft palate OMIM:147800
Birk-Barel Syndrome
Bifid uvula, Highly arched eyebrow, Long eyelashes, Tented upper lip vermilion, Submucous cleft s... OMIM:612292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Long palpebral fis... OMIM:614207
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Chorioretinal coloboma, Downslant... ORPHA:7
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Anteverted nares, Smooth philtrum, Thin vermilion border, High pa... OMIM:601853
Donnai-Barrow Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Intestinal malrotation, Iris coloboma, Sh... ORPHA:2143
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Epicanthus, Alveolar pr... OMIM:200990
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ... OMIM:616894
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Downslanted pa... ORPHA:251028
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Long philtrum, Abnormal dental enamel morphology, Intrauterine growth ret... ORPHA:439822
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Unilateral cleft lip, Intrauterine growth retardation, Telecanthus, Anteverted... OMIM:616897
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Dental crowding, Lower eyelid coloboma, Delayed eruption of primary teeth, Spa... OMIM:616367
Treacher Collins Syndrome 3
Lower eyelid coloboma, Cleft palate, Downslanted palpebral fissures OMIM:248390
Malan Syndrome
Downslanted palpebral fissures, Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Ev... OMIM:614753
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Long philtrum, Pterygium, Anteverted nares, Short nose ORPHA:93329
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Intrauterine growth re... ORPHA:2083
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Abnormal dental enamel morphology, Microd... ORPHA:1812
Al-Raqad Syndrome
Thin upper lip vermilion, Narrow mouth, Short nose OMIM:616459
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Highly arched eyebrow, Intrauterine growth retardation, Anteverted nares, Clef... ORPHA:2282
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Anteverted nares, Long eyelashes, Narrow ... ORPHA:357001
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Telecanthus, Oligodontia of primary teeth, Cleft palate ORPHA:2010
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, High palate, Ptosis, Short nose OMIM:218000
Cleft Soft Palate
Cleft soft palate OMIM:119570
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Whistling appearance, Dental crowding, Underdeveloped nasal alae, Pursed lips,... OMIM:193700
Dend Syndrome
Downturned corners of mouth, Long philtrum, Bilateral ptosis, Anteverted nares, Short nose ORPHA:79134
Prolidase Deficiency
Depressed nasal bridge, Ptosis, Concave nasal ridge, High palate, Short nose OMIM:170100
Achondrogenesis
Anteverted nares, Long philtrum, Short nose ORPHA:932
Aarskog-Scott Syndrome
Wide nasal bridge, Cleft upper lip, Downslanted palpebral fissures, Anteverted nares, Hypodontia,... OMIM:305400
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Epicanthus, Blepharophimosis, High palate, Short nose, Depressed nas... OMIM:618332
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Death in childhood, Short nose OMIM:618961
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Everted lower lip vermilion, High palate, Pierre-Robin sequence... OMIM:608670
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Anteverted nares, Death in childhood, Death in infancy, Deep philtrum, Sh... OMIM:613320
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, An... OMIM:219200
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose OMIM:302950
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Downturned corners of mouth, Telecanthus, Thin upper lip vermilion, Epica... OMIM:618590
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Bulbous nose, Anteverted nares, Furrowed tongue, Open mouth, Narrow mouth,... OMIM:615065
Poikiloderma With Neutropenia
Depressed nasal bridge, Sparse eyebrow, Carious teeth, Sparse lateral eyebrow, Underdeveloped nas... OMIM:604173
Distal Duplication 5Q
Carious teeth, Chorioretinal coloboma, Downslanted palpebral fissures, Long philtrum, Prominent n... ORPHA:96097
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Downslanted palpebral fissur... ORPHA:2804
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Epicanthus, Short nose, Downturned corners of mouth, Downslanted palpeb... ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Epiblepharon, Everted lower lip vermilion, Narrow palpebral fis... OMIM:620450
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Highly arched eyebrow, Long philtrum, ... OMIM:619124
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Microcephaly-Capillary Malformation Syndrome
Ptosis, Cleft palate, Short nose, Wide nose OMIM:614261
Cenani-Lenz Syndrome
High, narrow palate, Downslanted palpebral fissures, Abnormal dental enamel morphology, Hypodonti... ORPHA:3258
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose ORPHA:210548
Trisomy 20P
Highly arched eyebrow, Abnormality of the dentition, Downturned corners of mouth, Downslanted pal... ORPHA:261318
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Upslanted palpebral fissure, Cleft hard palate ORPHA:166016
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Intrauterine growth retardation, Prominent nas... ORPHA:251071
Au-Kline Syndrome
Bifid nasal tip, Bifid uvula, Dental malocclusion, Sparse lateral eyebrow, Underdeveloped nasal a... OMIM:616580
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Cleft lip, Lacrimal duct aplasi... OMIM:618454
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Sparse eyebrow, Ankyloblepharon, Conical tooth, Delayed eruption of teeth, Wid... ORPHA:1071
Achondrogenesis Type 1B
Anteverted nares, Long philtrum, Short nose ORPHA:93298
Autosomal Recessive Faciodigitogenital Syndrome
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Telecanthus, Upslanted palpeb... ORPHA:1974
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Epicanthus, High palate, Short nose OMIM:605309
Treacher Collins Syndrome 1
Choanal atresia, Downslanted palpebral fissures, Lower eyelid coloboma, Cleft soft palate, Narrow... OMIM:154500
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Shallow orbits, Short nose, Downslanted palpebral fissures ORPHA:1129
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Peho Syndrome
Anteverted nares, Abnormal upper lip morphology, Open mouth, Gingival overgrowth, Abnormal palate... ORPHA:2836
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Desmosterolosis
Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Downslanted palpebral fissures, Int... ORPHA:35107
Trisomy 8Q
Wide nasal bridge, Upslanted palpebral fissure, Abnormal oral frenulum morphology, Orofacial clef... ORPHA:1752
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Sparse eyebrow, Carious teeth, Bifid uvula, Velopharyngeal insufficiency,... OMIM:129400
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, B... OMIM:156200
Autosomal Dominant Robinow Syndrome
Open bite, Anodontia, Epicanthus, Euryblepharon, Short nose, Wide nose, High, narrow palate, Down... ORPHA:3107
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Narrow mouth, Upslanted palpebral fissure, Thin upper lip vermilion, Short nose OMIM:613735
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Lathosterolosis
Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Bulbous nose, Intraut... ORPHA:46059
Marcus-Gunn Syndrome
Choanal atresia, Cleft lip, Abnormality of the sense of smell, Coloboma, Unilateral ptosis, Cleft... ORPHA:91412
Achondrogenesis Type 1A
Anteverted nares, Long philtrum, Short nose ORPHA:93299
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Open... ORPHA:950
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Downslanted palpebral fissures, Death in childhood, Epicanthus, Ptosis, C... OMIM:300661
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Long philtrum, Downslanted palpebral fissures, Retinal colobo... OMIM:300749
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Natal tooth, Volvulus, Long eyelashes, Short nose OMIM:617802
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Downslanted palpebral fissures, Prominent nasal br... ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, In... OMIM:614114
Nicolaides-Baraitser Syndrome
Wide nasal base, Unilateral narrow palpebral fissure, Short lingual frenulum, Absent eyebrow, Eve... OMIM:601358
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Sparse eyebrow, Carious teeth, Diastema, Intestinal malrotation, Antevert... OMIM:244450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Cherubism
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge over... OMIM:118400
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Long philtrum, Short nose ORPHA:93328
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Meckel diverticulum, Short nose, Chorioretinal coloboma ORPHA:163961
C Syndrome
Wide nasal bridge, Anteverted nares, Upslanted palpebral fissure, Thick anterior alveolar ridges,... OMIM:211750
Baller-Gerold Syndrome
Anteriorly placed anus, Intrauterine growth retardation, Prominent nasal bridge, Narrow nasal bri... ORPHA:1225
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Anteverted nares, Limbal dermoid, Telecanthus, Eyelid coloboma, Epicanth... ORPHA:3339
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Delayed eruption of teeth, Thick upper lip vermilion, Intrauterine growth reta... OMIM:247200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Bulbous nose, Prominent nasal bridge, Short nose OMIM:613870
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Epicanthus, Conge... ORPHA:476126
Faciocardiorenal Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum, Hypodontia, Cleft pa... ORPHA:1973
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Broad nasal tip, Carious teeth, Downturned corners of mouth, Intrauterine growth ret... ORPHA:177907
Coffin-Siris Syndrome 4
Wide nasal bridge, Depressed nasal bridge, Everted upper lip vermilion, Long philtrum, Thick lowe... OMIM:614609
Monosomy 9P
Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Abnormality of the dentition, Lon... ORPHA:261112
Wiedemann-Steiner Syndrome
Wide nasal bridge, Short palpebral fissure, Long philtrum, Intrauterine growth retardation, Long ... ORPHA:319182
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Long philtrum, Bulbous nose, Anteverted n... OMIM:613458
3Mc Syndrome 2
Wide nasal bridge, Highly arched eyebrow, Downturned corners of mouth, Cleft upper lip, Downslant... OMIM:265050
Schneckenbecken Dysplasia
Cleft palate, Short nose, Stillbirth OMIM:269250
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Anteverted nares, Upslanted palpebral fissure, Epicanthus, High... ORPHA:3309
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Ring Chromosome 7 Syndrome
Wide nasal bridge, Highly arched eyebrow, Bifid uvula, Narrow naris, Downslanted palpebral fissur... ORPHA:1449
Harel-Yoon Syndrome
Upslanted palpebral fissure, Short nose OMIM:617183
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Short columella, Epicanthus, Aganglionic megac... OMIM:613603
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia, Downslanted palpebral fissures OMIM:614526
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Intrauterine growth retardation, Epicanthus, Cleft... OMIM:608022
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of the tongue, Telecanthus, Narrow mouth, Death in infancy,... ORPHA:989
Micro Syndrome
Wide nasal bridge, Retinal coloboma, Intrauterine growth retardation, Anteverted nares, Short phi... ORPHA:2510
Desmosterolosis
Hypoplastic nasal bridge, Downslanted palpebral fissures, Anteverted nares, Alveolar ridge overgr... OMIM:602398
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Palpebral thickening, Abnormality of the dentition, Dental malocclusion, ... OMIM:115150
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Sparse eyelashes, Epicanthus, Keratoconjunctivitis sicca, Hypoplasia of teeth, ... OMIM:234050
Bartsocas-Papas Syndrome 1
Absent eyelashes, Cicatricial lagophthalmos, Absent eyebrow, Blepharophimosis, Anal atresia, Shor... OMIM:263650
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Shor... OMIM:616430
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Narrow mou... OMIM:601353
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Intrauterine growth retardation, Short nose OMIM:614732
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Short nose OMIM:614613
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, Carious teeth, Long philtrum, Downslanted palpebral fissures, Intrauterine growt... ORPHA:357074
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Downslanted palpe... OMIM:300912
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tongue, Short nose ORPHA:561
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Long philtrum, Intrauterine growth retardation, Anteverted nares, Upslant... OMIM:257300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Long philtrum,... OMIM:615398
Distal Deletion 10Q
Wide nasal bridge, Downslanted palpebral fissures, Prominent nose, Prominent nasal bridge, Upslan... ORPHA:96148
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Abnormality of the dentition, ... OMIM:601088
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormality of the dentition, Narrow mouth, Oligodontia... ORPHA:363417
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Selective tooth agenesis, Downslanted palpebral fissures, Narrow mouth, Multip... OMIM:311300
Meier-Gorlin Syndrome 6
Depressed nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Downslanted palpebral f... OMIM:616835
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Epicanthus, Short hard palate, High palate, Short nose, Downturned corner... OMIM:180700
Jacobsen Syndrome
Depressed nasal bridge, Chorioretinal coloboma, Intrauterine growth retardation, Anteverted nares... OMIM:147791
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Intrauterine growth retardation, Narrow mouth, Upslanted palpebral fissu... OMIM:608779
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Death in early adulthood, Narrow mouth, Narrow nasal ridge, High palate, Hypopla... OMIM:608612
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Conical tooth, Ankyloblepharon, Cleft lip, Bilateral choanal atresia, Selectiv... OMIM:106260
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Broad columella, Underdeveloped nasal alae, Abnormality of ... ORPHA:2710
Fibrochondrogenesis 1
Depressed nasal bridge, Long philtrum, Anteverted nares, Narrow mouth, Stillbirth, Cleft palate, ... OMIM:228520
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Narrow palate, Abnormality of the dentition, Downt... ORPHA:870
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Intrauterine growth retardation, Narrow mouth, Neonatal death, Convex na... OMIM:251230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Long philtrum, Anteverted nares, Open mouth, Epicanthus, A... OMIM:614080
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, High palate, Anal atresia, Cleft... ORPHA:93259
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Duodenal stenosis ORPHA:2547
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Sparse eyebrow, Conical tooth, Everted u... OMIM:305100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Cleft upper lip, Anteverted nares, Long eyelashes, Thic... OMIM:213980
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Epicanthus, Everted lower lip vermilion, Narrow palpebral fissure, ... OMIM:615873
Trisomy 10P
Depressed nasal bridge, Short palpebral fissure, Abnormality of the nose, Abnormal lip morphology... ORPHA:171929
Jacobsen Syndrome
Epicanthus, Iris coloboma, Duodenal atresia, Short nose, Downslanted palpebral fissures, Eyelid c... ORPHA:2308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Highly arched eyebrow, Dental crowding, Downturned corners of mouth, Downslanted... OMIM:301044
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Short nose, Narrow palpebral fissure OMIM:618087
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Sparse o... ORPHA:1340
Adenylosuccinase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Wide mouth, Short nose OMIM:103050
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Intrauterine growth retardation, Anteverted ... OMIM:608013
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Tented upper lip vermilion, Epicanthus, Ptosis, Thick vermilion border, S... OMIM:616723
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Downslanted palpebral fissures, Anteverted nares, Prominent n... OMIM:227330
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Epicanthus, High, narrow palate, Short palpebral fi... OMIM:619950
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Sparse eyebrow, Delayed eruption of teeth, Anteriorly placed anus, Agenes... OMIM:268400
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, High palate, Anal atresia, Cleft... ORPHA:93260
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Coloboma, Ptosis, Downslanted palpebral fissures OMIM:606851
Holoprosencephaly 9
Depressed nasal bridge, Choanal atresia, Broad nasal tip, Dental malocclusion, Downturned corners... OMIM:610829
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Downslanted palpebral fissures, Submucous cleft hard palate, Thin upper lip vermil... ORPHA:457279
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Short nose OMIM:608776
Kleefstra Syndrome
Highly arched eyebrow, Pyloric stenosis, Downturned corners of mouth, Delayed eruption of teeth, ... ORPHA:261494
Desbuquois Dysplasia 1
Depressed nasal bridge, Long philtrum, Intrauterine growth retardation, Narrow mouth, Smooth phil... OMIM:251450
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Thin upper lip vermilion, Deep philtrum, High palate, Short nose ORPHA:329178
Deeah Syndrome
Narrow palate, Short palpebral fissure, Long philtrum, Intrauterine growth retardation, Narrow mo... OMIM:619004
Pfeiffer Syndrome Type 1
Depressed nasal bridge, High palate, Short nose ORPHA:93258
Lathosterolosis
Long philtrum, Thick upper lip vermilion, Anteverted nares, Alveolar ridge overgrowth, Epicanthus... OMIM:607330
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Cleft lip, Macrodontia of permanent maxillary central inci... OMIM:620568
Warburg Micro Syndrome 3
Narrow palate, Blepharophimosis, Short nose, Downturned corners of mouth OMIM:614222
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Choanal atresia, Depressed nasal ridge, High, narrow palate, Bif... ORPHA:2753
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Long philtrum, Narrow mouth, ... OMIM:613457
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short palpebral fissure, Bifid uvula, Downturned corners of mouth, Intrau... OMIM:301030
Jaberi-Elahi Syndrome
Depressed nasal bridge, Sparse eyebrow, Sparse eyelashes, Triangular mouth, Short nose OMIM:617988
Robinow Syndrome, Autosomal Recessive 1
Epicanthus, Short nose, Downturned corners of mouth, Downslanted palpebral fissures, Long eyelash... OMIM:268310
Acrofrontofacionasal Dysostosis 1
Wide nasal bridge, Cleft upper lip, Long eyelashes, Oligodontia, Ptosis, Long eyebrows, Wide mout... OMIM:201180
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Downturned corners of mouth, Anteverted nares, Protruding tongue, Everted ... ORPHA:96147
Trisomy 18
Choanal atresia, Narrow palate, Intrauterine growth retardation, Narrow mouth, Epicanthus, Anal a... ORPHA:3380
Bcard Syndrome
Abnormality of the dentition, Downturned corners of mouth, Intrauterine growth retardation, Antev... OMIM:612394
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypodontia, Narrow nasal bridge, Short nose ORPHA:544503
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, High palate, Short nose OMIM:617822
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Macroglossia, Short nose OMIM:613038
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Highly arched eyebrow, Long philtrum, Downslanted palpebral fissures, Prominen... ORPHA:1519
Toriello-Carey Syndrome
Short palpebral fissure, Sparse eyebrow, Anteriorly placed anus, Intrauterine growth retardation,... ORPHA:3338
Coffin-Lowry Syndrome
Highly arched eyebrow, Narrow palate, Thick nasal septum, Broad columella, Dental malocclusion, D... OMIM:303600
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Long philtrum, Short nose ORPHA:50810
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Intrauterine growth retardation, Short nose OMIM:300863
Chops Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Long eyelashes, Anteverted nares... OMIM:616368
Stromme Syndrome
Wide nasal bridge, Intestinal malrotation, Short columella, Prominent nasal bridge, Wide mouth, J... OMIM:243605
Loeys-Dietz Syndrome 5
Bifid uvula, Downslanted palpebral fissures, Prominent nasal bridge, Cleft soft palate, Tented up... OMIM:615582
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Abnormal palate morphology, Microdontia, ... ORPHA:2719
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Long philtrum, Downslanted palpebral fissures, Narrow mout... ORPHA:2953
Rhombencephalosynapsis
Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... ORPHA:59315
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Long philtrum, Downslanted palp... OMIM:309590
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Sparse eyebrow, Eruption failure, Long philtrum, Thi... OMIM:230740
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Hyposmia, Submuc... ORPHA:2250
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Dental crowd... OMIM:617157
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Angioid streaks of the fundus, Taurodontia, Pulp calcification, Enamel hypopla... OMIM:211900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Short nose ORPHA:496790
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Diastema, Thick lower lip vermilion, Anteverted nares, Protruding tongue,... OMIM:301040
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Bifid uvula, Abnormality of the dentit... OMIM:617140
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Downslanted palpebral fissures, Intestinal malrotation, ... OMIM:222448
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Underdeveloped nasal alae, Long philtrum, Thick eyebrow, Narrow mouth, Ke... OMIM:616007
Ctcf-Related Neurodevelopmental Disorder
Highly arched eyebrow, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Abnor... ORPHA:363611
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protruding tongue, Stillbirth... OMIM:200600
C Syndrome
Depressed nasal bridge, Long philtrum, Anteverted nares, Gingival overgrowth, Upslanted palpebral... ORPHA:1308
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Dental crowding, Downslanted palpebral fissures, Tented upper lip vermilion, S... OMIM:620369
Aymé-Gripp Syndrome
Depressed nasal bridge, Long philtrum, Bilateral ptosis, Downslanted palpebral fissures, Long eye... ORPHA:1272
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Intrauterine growth retardation, Short nose, High palate OMIM:618005
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Hyper... ORPHA:2769
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Long philtrum, Telecanthus, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Hypoplasia of eyelid, Intrauterine growth re... OMIM:619321
Renal Agenesis, Bilateral
Depressed nasal ridge, Abnormal intestine morphology, Epicanthus, Tracheoesophageal fistula, Non-... ORPHA:1848
Pallister-Hall Syndrome
Depressed nasal bridge, Choanal atresia, Microglossia, Natal tooth, Cleft upper lip, Anteriorly p... OMIM:146510
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Downslanted palpebral fissures, Narrow mouth, Epicanthu... ORPHA:77301
Marshall-Smith Syndrome
Death in childhood, Irregular dentition, High palate, Short nose, Choanal atresia, Choanal stenos... OMIM:602535
Osteoglophonic Dysplasia
Depressed nasal bridge, Choanal atresia, Eruption failure, Delayed eruption of teeth, Nasal conge... OMIM:166250
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Downslanted palpebral fissures, Narrow mouth, Anodontia, Oligodontia, Glo... ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Rectovestibular fistula, Prominent palatine ridges, Anteverted nares, Gingival ove... ORPHA:280633
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Tessier cleft, Sparse eyebrow, Underdeveloped nasal alae, Eyelid coloboma, Spa... ORPHA:306542
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Short nose, Wide nose OMIM:615851
Ogden Syndrome
Flared nostrils, Palpebral thickening, Everted upper lip vermilion, Thick upper lip vermilion, Ep... OMIM:300855
Noonan Syndrome 3
Hypoplastic nasal bridge, Downslanted palpebral fissures, Anteverted nares, Epicanthus, Ptosis, H... OMIM:609942
Robinow Syndrome
Flared nostrils, Depressed nasal bridge, Tooth malposition, Broad nasal tip, Dental malocclusion,... ORPHA:97360
Treacher Collins Syndrome 2
Choanal atresia, Downslanted palpebral fissures, Lower eyelid coloboma, Choanal stenosis, Cleft p... OMIM:613717
Stuve-Wiedemann Syndrome 1
Wide nasal base, Short palpebral fissure, Carious teeth, Smooth tongue, Pursed lips, Intrauterine... OMIM:601559
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Narrow nose, Prominent nasal bridge, Aplasia of the nasal bone, Narrow... OMIM:601812
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso... ORPHA:2751
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Lacrimal duct atresia, Coloboma, High p... OMIM:603457
Limb-Mammary Syndrome
Bifid uvula, Sparse eyebrow, Cleft lip, Lacrimal duct atresia, Absent lacrimal punctum, Submucous... ORPHA:69085
Opsismodysplasia
Depressed nasal bridge, Long philtrum, Anteverted nares, Long palpebral fissure, Shallow orbits, ... OMIM:258480
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Cleft upper lip, Downslanted palpebral fissu... OMIM:603671
1P21.3 Microdeletion Syndrome
Broad nasal tip, Wide mouth, Upslanted palpebral fissure, Short nose ORPHA:293948
Atelosteogenesis, Type I
Depressed nasal bridge, Short nose, Neonatal death, Stillbirth, Cleft palate OMIM:108720
Chand Syndrome
Depressed nasal bridge, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morp... ORPHA:1401
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Axillary pterygium, Popliteal pterygium, Long philtrum... OMIM:258315
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Death in infancy, Triangular mouth, Keratoconjunctivitis sicca, Short nose OMIM:601675
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Horizontal eyebrow, Almond-shaped palpebral fissure, Thin upper lip vermilion, Epicanthus, Promin... ORPHA:522077
Molybdenum Cofactor Deficiency, Type B
Thick vermilion border, Long philtrum, Short nose, Neonatal death OMIM:252160
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Natal tooth, Long philtrum, Anteverted nares, Telecanthus, Protruding ton... ORPHA:50945
Fontaine Progeroid Syndrome
High, narrow palate, Depressed nasal bridge, Short palpebral fissure, Aplastic/hypoplastic lacrim... OMIM:612289
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Geleophysic Dysplasia 1
Wide nasal bridge, Long philtrum, Anteverted nares, Upslanted palpebral fissure, Thin upper lip v... OMIM:231050
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Depressed nasal bridge, Bifid uvula, Dental crowding, Delayed eruption of teeth, Downslanted palp... OMIM:300990
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Exaggerated median tongue furrow, Downt... ORPHA:2729
Stickler Syndrome
Depressed nasal bridge, Depressed nasal ridge, Bifid uvula, Long philtrum, Cleft upper lip, Open ... ORPHA:828
Cadds
Intrauterine growth retardation, Short nose ORPHA:369942
Witteveen-Kolk Syndrome
Flared nostrils, Narrow mouth, Open mouth, Epicanthus, High palate, Iris coloboma, Short nose, Wi... OMIM:613406
Alg9-Cdg
Depressed nasal bridge, Bifid uvula, Underdeveloped nasal alae, Long philtrum, Telecanthus, Villo... ORPHA:79328
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Intrauterine growth retardation, Tented upper lip vermilion, E... OMIM:618460
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Upslanted palpebral fissure, Epicanthus, Hypoplasia of the small intestine, Sh... OMIM:200995
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Ankyloblepharon, Fibrous syngnathia, Cle... OMIM:119500
Cornelia De Lange Syndrome
High palate, Short nose, Choanal atresia, Downturned corners of mouth, Long eyelashes, Thin vermi... ORPHA:199
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Abnormality of the dentition, Thick vermilion border, Tented upper lip ve... ORPHA:457395
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Long philtrum, Anteverted nares, Intestinal polyposis, Narro... ORPHA:109
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Short nose ORPHA:3078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Tented upper lip vermilion, Smooth philtrum, High palate, Short nose OMIM:617527
Acrofacial Dysostosis, Cincinnati Type
Median pseudocleft lip, Epicanthus, High palate, Short nose, Choanal atresia, Cleft lip, Downslan... OMIM:616462
Phocomelia, Schinzel Type
High, narrow palate, Intrauterine growth retardation, Tracheoesophageal fistula, Short nose, Anal... ORPHA:2879
Plaa-Associated Neurodevelopmental Disorder
Long philtrum, Tented upper lip vermilion, Smooth philtrum, High palate, Short nose ORPHA:521426
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures... ORPHA:444077
Mietens Syndrome
Wide nasal bridge, Short nose, Wide nose ORPHA:2557
Arterial Tortuosity Syndrome
Short palpebral fissure, Esophagitis, Median cleft palate, Hiatus hernia, Blepharophimosis, Short... ORPHA:3342
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Downslanted palpebral fissures, Anteriorl... OMIM:117650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Ankyloglossia, High palate, Iris coloboma, Short nose, High, narrow palat... OMIM:619475
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Malrotation of... ORPHA:264450
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Ileal atresia, Long philtrum, Upslanted palpebral fissure, Aplasia of th... OMIM:618820
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Bifid uvula, Broad nasal tip, Long philtrum, Telecanthus, Upslanted palpebral ... OMIM:620330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Gingival overgrowth, Narro... ORPHA:508533
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Narrow mouth, Convex nasal ridge, Short nose ORPHA:90154
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, High, narrow palate, Cleft upper lip, Downslanted palpebral fissures, Antevert... ORPHA:373
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Downslanted palpebral fissures, Intestinal malrotation, Short columella, Telecanth... OMIM:601776
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Broad nasal tip, Carious teeth, Downturned corners of mouth, Downslanted palpe... OMIM:619522
Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Abnormality of the dentition, Optic disc coloboma, Downslanted palpebral ... ORPHA:536471
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Long eyelashes, Telecanthus, Epicanthus, Thick vermilion border, Conjunctivitis, Sh... ORPHA:505248
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Popliteal pterygium, Thin vermilion border, Epicanthus, Ptosis, Blepharophimos... OMIM:609945
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Nasal congestion, Thick nasal alae, Short columella, Shor... ORPHA:79345
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Degcags Syndrome
Protruding tongue, High palate, Short nose, Abnormal eyebrow morphology, Long eyelashes, Pyloric ... OMIM:619488
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Depressed nasal bridge, Abnormality of the dentition, Bulbous nose, Anteverted nares, Short denta... OMIM:271510
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Failure of eruption of permanent teeth, Anteverted nares, Enamel hypoplasia, Sho... OMIM:272460
Peters Plus Syndrome
Depressed nasal bridge, Short palpebral fissure, Long philtrum, Intestinal fistula, Cleft upper l... ORPHA:709
Geleophysic Dysplasia 2
Thin upper lip vermilion, Smooth philtrum, Long philtrum, Short nose OMIM:614185
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short nose OMIM:277450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Dentinogenesis imperfecta, Carious teeth, Long philtrum, Anteverted nares... ORPHA:536467
Holoprosencephaly 2
Bifid uvula, Chorioretinal coloboma, Proboscis, Median cleft palate, Submucous cleft hard palate,... OMIM:157170
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Underdeveloped nasal alae, Widely spaced teeth, Intrauterine growth retardation,... ORPHA:268261
Opsismodysplasia
Depressed nasal bridge, Short nose ORPHA:2746
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Bifid uvula, Downturned corners of mou... ORPHA:500150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Narrow mouth, High palate, Esophageal varix, Short nose, Downturned corners of... OMIM:619503
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Choanal atresia, Depressed nasal bridge, Anteriorly placed anus, Bulbous nos... ORPHA:95699
Warburg Micro Syndrome 2
Prominent nasal bridge, Short nose OMIM:614225
Molybdenum Cofactor Deficiency, Type A
Long philtrum, Short nose, Thick vermilion border OMIM:252150
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Schinzel-Giedion Syndrome
Broad nasal tip, Delayed eruption of teeth, Anteriorly placed anus, Short philtrum, Aganglionic m... ORPHA:798
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Macroglossia, Anteverted nares, Choanal stenosis, Shallow orbits, Abnorma... OMIM:269150
Sponastrime Dysplasia
Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Aplasia of the nasal b... ORPHA:93357
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Diamond-Blackfan Anemia
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Cleft soft palate, Epicanthus, Ptosis, Aden... ORPHA:124
Pallister-Killian Syndrome
Sparse eyelashes, Epicanthus, Everted lower lip vermilion, Anal atresia, Short nose, Sparse eyebr... OMIM:601803
Femoral-Facial Syndrome
Underdeveloped nasal alae, Long philtrum, Upslanted palpebral fissure, Thin upper lip vermilion, ... OMIM:134780
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Depressed nasal bridge, Submucous cleft lip, Narrow palate, Exaggerated median... OMIM:312870
Pallister-Hall Syndrome
Choanal atresia, Depressed nasal ridge, Cleft lip, Bifid uvula, Natal tooth, Microglossia, Downsl... ORPHA:672
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Long philtrum, Enlarged naris, Concave nasal ridge... OMIM:271665
Williams-Beuren Syndrome
Depressed nasal bridge, Colonic diverticula, Broad nasal tip, Dental malocclusion, Long philtrum,... OMIM:194050
Williams Syndrome
Carious teeth, Open bite, Death in early adulthood, Epicanthus, Blepharophimosis, Everted lower l... ORPHA:904
Hardikar Syndrome
Unilateral cleft lip, Celiac disease, Intestinal malrotation, Cleft soft palate, Bilateral cleft ... OMIM:301068
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Aspartylglucosaminuria
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Gingival overgrowth, Thick vermil... ORPHA:93
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Epicanthus, Cleft soft palate OMIM:614557
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Viss Syndrome
High, narrow palate, Depressed nasal bridge, Bifid uvula, Broad uvula, Celiac disease, Intestinal... OMIM:619472
Mowat-Wilson Syndrome
Tooth malposition, Open mouth, Prominent nasal tip, Everted lower lip vermilion, Iris coloboma, D... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Open mouth, Iris coloboma, Depressed nasal tip, Short philtrum, Cleft palate, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Open mouth, Epicanthus, Iris coloboma, Depressed nasal tip, Short philtrum, Cl... ORPHA:261552
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Narrow mouth, Short nose OMIM:606721
Penile Agenesis
Depressed nasal bridge, Tracheoesophageal fistula, Rectal fistula, Anal atresia, Short nose ORPHA:49
Holt-Oram Syndrome
Cleft soft palate, Long philtrum OMIM:142900

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 Wiz

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 Wiz.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wiztm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Wizem1(IMPC)Ccpcz Indel Mice
Wiztm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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