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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
increased freezing behavior Wizem1(IMPC)Ccpcz HET Early adult 2.04×10-05
increased blood urea nitrogen level Wizem1(IMPC)Ccpcz HET Early adult 1.63×10-08
abnormal retina morphology Wizem1(IMPC)Ccpcz HET Early adult 3.20×10-06
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
increased airway resistance Wizem1(IMPC)Ccpcz HET Early adult 5.52×10-07

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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 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 Skull Dorso Ventral Orientation

15 Images

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XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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XRay Images Forepaw

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
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Epicanthus, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
17Q21.31 Microduplication Syndrome
Epicanthus, Anteverted nares, Abnormality of the dentition, Synophrys, High palate, Short philtru... ORPHA:217340
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... OMIM:620085
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Short palpebral... ORPHA:1200
Fetal Valproate Spectrum Disorder
Epicanthus, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mou... ORPHA:1906
Syngnathia
Cleft palate OMIM:119550
14Q11.2 Microdeletion Syndrome
Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Deep philtrum... ORPHA:261120
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate ORPHA:1074
Megaepiphyseal Dwarfism
Epicanthus, Cleft palate OMIM:249230
Ring Chromosome 8 Syndrome
Epicanthus, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, High palate, Short nose, Macrodontia OMIM:300577
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia ORPHA:2016
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Exaggerated cupid... OMIM:617752
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Upp... OMIM:619736
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Potocki-Shaffer Syndrome
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout... OMIM:601224
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Non-Distal Duplication 10Q
Depressed nasal bridge, High palate, Everted lower lip vermilion, Blepharophimosis, Short nose, D... ORPHA:1695
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Short nos... ORPHA:438178
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Fg Syndrome 5
Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Long... OMIM:300581
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Depressed nasal ridge, Lacrimal du... ORPHA:1529
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar... OMIM:614744
Orofaciodigital Syndrome Xi
Bulbous nose, Downslanted palpebral fissures, Wide nasal bridge, Cleft palate OMIM:612913
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Intrauterine... ORPHA:1832
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Epicanthus, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide... OMIM:613604
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Abnormal soft... ORPHA:884
Frontofacionasal Dysplasia
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Limbal d... ORPHA:1791
Trigonocephaly 1
Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Long ... OMIM:190440
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Maxillonasal Dysplasia
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... ORPHA:1248
17P13.3 Microduplication Syndrome
Wide nose, High palate, Narrow mouth, Short nose, Downslanted palpebral fissures ORPHA:217385
Anencephaly 2
Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate, Short palpebra... OMIM:619452
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Synophrys, Wide mouth, Everted lower lip vermilion, Short philtrum, Sho... ORPHA:2429
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
Acromicric Dysplasia
Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Long eyel... ORPHA:969
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Upslanted palpebral fissure OMIM:300263
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cleft palate, Intraut... OMIM:611867
Joubert Syndrome 26
Anteverted nares, Cleft lip, Recurrent upper respiratory tract infections, Cleft palate, Ptosis OMIM:616784
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent ... OMIM:618506
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Distichiasis, High palate, Long philtrum ORPHA:2598
Chung-Jansen Syndrome
Epicanthus, Anteverted nares, Synophrys, Upslanted palpebral fissure, Thin vermilion border, High... OMIM:617991
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys, Protruding tongue DECIPHER:52
Pai Syndrome
Telecanthus, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal or... ORPHA:1993
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge OMIM:200130
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, B... OMIM:618828
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Ohdo Syndrome
Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Wide nasal bridge, ... OMIM:249620
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Zechi-Ceide Syndrome
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Narrow pa... OMIM:612916
Pierpont Syndrome
Smooth philtrum, Wide nose, Telecanthus, Broad nasal tip, Unilateral narrow palpebral fissure, Br... OMIM:602342
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Upslanted palpebra... OMIM:613544
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Narrow mouth, Intrauterine growth retardation, Short nose, Abnormal palate morp... ORPHA:1495
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... OMIM:616108
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... OMIM:137550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Miller-Dieker Syndrome
Epicanthus, Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Cleft palate OMIM:600252
Catifa Syndrome
Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Increased overb... OMIM:618761
Blepharonasofacial Malformation Syndrome
Wide nose, Epicanthus, Telecanthus, Underdeveloped nasal alae, Abnormal eyelash morphology, Non-m... ORPHA:1252
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Perlman Syndrome
Epicanthus, Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal upper ... ORPHA:2849
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Downslanted palpebral fissures, Open mouth, Broad nasal tip OMIM:613670
Eem Syndrome
Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou... ORPHA:1897
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Tetrasomy 18P
Epicanthus, Thin vermilion border, Narrow mouth, Short nose, Downslanted palpebral fissures, Long... ORPHA:3307
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... OMIM:620292
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Synophrys, Upslanted palpebral fissure, Short nose, ... OMIM:300143
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslanted palpebral fissures, Sh... OMIM:611936
Fetal Alcohol Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Non-midline cleft lip, Cleft... ORPHA:1915
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... OMIM:616898
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ... OMIM:300558
Oculomaxillofacial Dysostosis
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... ORPHA:1794
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Amyotrophy, Hereditary Neuralgic
Epicanthus, Depressed nasal bridge, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Blep... OMIM:162100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Ptosis, Depressed nasal bridge, Anteverted nares, Highly arched eyebro... OMIM:615866
Camptodactyly Syndrome, Guadalajara Type 1
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Open bi... ORPHA:1327
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Cleft palate, Ankyloblepharon, Sparse or absent eyel... ORPHA:1234
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Anteverted nares, Upslanted palpebral fissure, Short philtrum, Short nose, Open mouth ORPHA:228384
Bencze Syndrome
Open bite, Telecanthus, Submucous cleft hard palate, Upslanted palpebral fissure ORPHA:1241
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Baker-Gordon Syndrome
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Short nose, Smooth philtrum OMIM:618218
Orofaciodigital Syndrome Xix
Epicanthus, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal ti... OMIM:620107
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Fetal Trimethadione Syndrome
Epicanthus, Depressed nasal bridge, Synophrys, High palate, Intrauterine growth retardation, Shor... ORPHA:1913
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Mosaic Trisomy 14
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate, Wide mouth, Ectopic an... ORPHA:1703
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Orofaciodigital Syndrome Viii
Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate OMIM:300484
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Rapadilino Syndrome
Slender nose, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Cleft palate, Narrow palpebr... OMIM:266280
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Non-Distal Duplication 13Q
Abnormality of the dentition, Abnormal eyelash morphology, Synophrys, Thin vermilion border, High... ORPHA:1702
Microphthalmia, Syndromic 12
Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal death OMIM:615524
Waardenburg Syndrome Type 1
Telecanthus, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, White eyebrow, C... ORPHA:894
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Choanal stenosis, Lower eyelid coloboma, Cleft palate OMIM:618939
Peho-Like Syndrome
Epicanthus, Short nose, Open mouth OMIM:617507
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal palate morphology, Aggressive be... ORPHA:208441
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Aplasia/Hy... ORPHA:2701
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... ORPHA:2004
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Hartsfield Syndrome
Telecanthus, Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Intrauterine growth ret... ORPHA:2117
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underde... ORPHA:364577
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, High pala... OMIM:618774
Facial Clefting, Oblique, 1
Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... OMIM:616788
Frontofacionasal Dysplasia
Telecanthus, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Ankyloblepharon, Eyelid... OMIM:229400
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Intestinal malrotation, Synophrys, Wide nasal b... ORPHA:401935
Thomas Syndrome
Downslanted palpebral fissures, Cleft palate, Cleft upper lip ORPHA:3316
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Wide nasal bridge, Cleft palate, High palate, Downslanted palpebral f... OMIM:618388
Foxg1 Syndrome Due To 14Q12 Microdeletion
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Palpebral edema, Bulbous nose, Ma... ORPHA:261144
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Respiratory insufficiency, Respiratory failure, Hyperuricemia, Incr... OMIM:613845
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Upp... OMIM:613456
Burn-Mckeown Syndrome
Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/ste... OMIM:608572
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Abnormal retinal morphology on macular OCT, Inc... ORPHA:251004
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Upper eyelid coloboma, Cleft pa... ORPHA:398156
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft ... ORPHA:1790
Fetal Hydantoin Syndrome
Epicanthus, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Intraut... ORPHA:1912
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Ankyloblepharon, Lip pit ORPHA:1072
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Chorioretinal coloboma, Cleft palate, Cleft upper lip OMIM:120433
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, W... OMIM:243310
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... OMIM:614069
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... OMIM:601349
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth ORPHA:93946
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Supernumerary tooth, Submucous cleft h... OMIM:617412
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, H... OMIM:614105
Even-Plus Syndrome
Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, High palate, Hypodontia... OMIM:616854
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Intestinal malrotation, Highly arched ... OMIM:614701
Acrocephalopolydactyly
Epicanthus, Short nose, Depressed nasal ridge ORPHA:221054
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Coffin-Siris Syndrome 3
Wide nose, Depressed nasal bridge, Anteverted nares, Cleft palate, Wide mouth, Macroglossia, Dela... OMIM:614608
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Wide nasal bridge, Long eyelashes, Long philtrum, Short nose, Broad philtrum OMIM:618577
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Wide nasal bridge, C... OMIM:615583
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... ORPHA:1104
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:616910
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downturned c... OMIM:618571
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow mouth, Synophrys, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Upsla... OMIM:620250
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... ORPHA:1716
Trisomy 12P
Epicanthus, Thick eyebrow, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted ... ORPHA:1699
Drug-Induced Lupus Erythematosus
Dyspnea, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive prot... ORPHA:231111
Pallister-Hall-Like Syndrome
Death in infancy, Median cleft lip, Depressed nasal bridge, Cleft palate, Microglossia, Short nose OMIM:241800
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Downslanted palpebral fissures OMIM:619981
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Dental crowding, Bulbous nose, Syno... OMIM:617061
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Epicanthus, Tented upper lip vermilion, Anteverted nares, Telecanthus, Wide ... OMIM:619383
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Death in infancy OMIM:615042
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Sparse eyelashes, Underdeveloped nasal alae, Carious teeth, Sparse eyebrow, Ble... OMIM:613026
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion ... OMIM:616420
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners of mouth, Promi... ORPHA:391372
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Synophrys, Downturned corners of mouth, Thin vermilion border,... ORPHA:1895
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Wide nasal br... OMIM:618529
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corners of mouth,... ORPHA:369891
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat... OMIM:610015
Carey-Fineman-Ziter Syndrome
Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft pala... ORPHA:1358
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Long eyelashes, Thick eyebrow ORPHA:1514
Bamforth-Lazarus Syndrome
Cleft palate, Bilateral choanal atresia OMIM:241850
Cockayne Syndrome Type 1
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Optic atr... ORPHA:90321
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Epicanthus, Thick eyebrow, High, narrow palate, Bulbous nose, Wide mouth, Thin... ORPHA:485405
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Wide mouth, Intrauterine growth retardation, Short nose, ... OMIM:615419
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Telecanthus, Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose, Downslanted p... OMIM:615539
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia, Median cleft lip, Cleft palate DECIPHER:46
Bainbridge-Ropers Syndrome
Dental crowding, Synophrys, Choanal stenosis, High palate, Death in infancy, Depressed nasal brid... OMIM:615485
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Cleft palate, Downturned corners of mouth, ... ORPHA:163649
Codas Syndrome
Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology,... ORPHA:1458
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Short philtrum, Open mouth, Sho... OMIM:618437
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Synoph... ORPHA:284169
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... OMIM:619854
16P11.2P12.2 Microdeletion Syndrome
Epicanthus, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridge, Blep... ORPHA:261211
Distal Deletion 9P
Epicanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, U... ORPHA:1642
Mandibulofacial Dysostosis, Guion-Almeida Type
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Esophageal atresia, Deep philtrum, Cl... OMIM:610536
Schilbach-Rott Syndrome
Epicanthus, Prominent nose, Long nose, Submucous cleft hard palate, Upslanted palpebral fissure, ... OMIM:164220
Stickler Syndrome Type 1
Short nose, Cleft palate, Long philtrum ORPHA:90653
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Anteverted nares, Dental crowding, Synophrys, Pierre-Robin sequence, An... OMIM:617877
Zechi-Ceide Syndrome
Wide nose, Cleft lip, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Narrow palpeb... ORPHA:217017
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... OMIM:619859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... OMIM:239300
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Ptosis, Epicanthus, Underdeveloped nasal alae, Bulbous nose, Wide nasal... OMIM:619493
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum,... ORPHA:314655
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short nose, Convex nasal ridge, Cleft palate ORPHA:2145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614749
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Death in infancy, Underdeveloped nasal alae, ... ORPHA:2315
Mandibulofacial Dysostosis-Microcephaly Syndrome
Epicanthus, Telecanthus, Accessory oral frenulum, Cleft palate, Upslanted palpebral fissure, Shor... ORPHA:79113
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... OMIM:616331
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis,... OMIM:620183
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypogeusia, Elevated circulating creatinine concentration, Decreased sensitivity to hypoxemia, In... OMIM:223900
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Flared nostr... OMIM:206920
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Short columella, Thin vermilion border, Long philtrum, ... ORPHA:171839
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Epicanthus, Anteverted nares, Synophrys, Hypoplasia of teeth... ORPHA:391408
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Intrauterine growth reta... ORPHA:1914
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip OMIM:613885
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Depressed nasal bridge, Blepharophimosis ORPHA:99688
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Thick eyebrow, Depressed nasal bridge, Highly arched eyebrow, Downturned corners of mouth, Widely... OMIM:617865
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Telecanthus, Synophrys, Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... OMIM:192445
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Short nose, Ope... OMIM:619356
Orofaciodigital Syndrome Ix
Telecanthus, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnorma... OMIM:258865
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Highl... ORPHA:404440
46,Xy Sex Reversal 4
Micrognathia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increased... OMIM:154230
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate OMIM:612370
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Sp... OMIM:605627
Down Syndrome
Epicanthus, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the ... ORPHA:870
20Q11.2 Microduplication Syndrome
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Palpebral edema... ORPHA:363659
8Q22.1 Microdeletion Syndrome
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Sparse eyebro... ORPHA:178303
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp... OMIM:225060
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Popliteal pterygium, Stillbirth, Downslanted palpebral fissures, Median c... OMIM:119800
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose, Pt... ORPHA:1185
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Short nose, Dentinogenesis i... ORPHA:166272
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Holoprosencephaly 11
Cleft lip, Synophrys, Thick eyebrow, Cleft palate OMIM:614226
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Telecanthus, Depressed nasal bridge, Anteverted nares, Highly arched ey... OMIM:608156
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... OMIM:618316
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Developmental And Epileptic Encephalopathy 38
Aspiration, Irritability, Retinal dystrophy, Attenuation of retinal blood vessels OMIM:617020
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon ... ORPHA:2409
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Synophr... OMIM:615803
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cu... OMIM:619833
Acrofrontofacionasal Dysostosis
Broad nasal tip, Non-midline cleft lip, Cleft palate, Eyelid coloboma, Everted lower lip vermilio... ORPHA:1784
White-Kernohan Syndrome
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Antever... OMIM:619426
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Cleft ... OMIM:607597
Ruvalcaba Syndrome
Dental crowding, Thin vermilion border, Narrow mouth, Intrauterine growth retardation, Short nose... ORPHA:3121
Weiss-Kruszka Syndrome
Epicanthus, Anteverted nares, Exaggerated cupid's bow, Highly arched eyebrow, Short nose, Downsla... OMIM:618619
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Wide nasal bridge, Gingival overg... OMIM:619179
Diprosopus
Non-midline cleft lip, Cleft palate, Abnormality of the nose ORPHA:1681
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Depressed nasal ridge, Wide mouth, Short philtrum, Intrauterine growth retardat... ORPHA:163966
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Dental crowding, Choanal stenosis, High palate, Shallow ... OMIM:101600
Cerebrofaciothoracic Dysplasia
Wide nose, Epicanthus, Thick eyebrow, Cleft upper lip, Synophrys, Cleft palate, Wide mouth, Short... ORPHA:1394
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia OMIM:614838
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Cleft palate, Narrow mouth OMIM:614078
Orofaciodigital Syndrome X
Telecanthus, Depressed nasal bridge, Cleft palate OMIM:165590
Femoral-Facial Syndrome
Thin upper lip vermilion, Cleft palate, Orofacial cleft, Upslanted palpebral fissure, Long philtr... ORPHA:1988
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Long nos... OMIM:617602
Intellectual Disability-Strabismus Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality ... ORPHA:363528
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Braddock-Carey Syndrome 1
Telecanthus, Anteverted nares, Pierre-Robin sequence, Wide nasal bridge, Cleft palate, Anteriorly... OMIM:619980
Oculodentodigital Dysplasia
Narrow nasal bridge, Epicanthus, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal... OMIM:164200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Bulbous... OMIM:618430
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Chorioretinal coloboma, Blepharophimos... ORPHA:2031
Toluene Embryopathy
Smooth philtrum, Epicanthus, Thin vermilion border, Short nose, Short palpebral fissure ORPHA:1920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglos... OMIM:242860
Periventricular Nodular Heterotopia 7
Anteverted nares, Dental crowding, Pierre-Robin sequence, Cleft palate, Narrow mouth, Short nose OMIM:617201
Rhizomelic Dysplasia, Patterson-Lowry Type
Epicanthus, Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Holoprosencephaly 7
Synophrys, Hypoplastic nasal septum, Shallow orbits, Iris coloboma, Median cleft palate, Bilatera... OMIM:610828
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... ORPHA:261236
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Highly arched eyebrow, Long philtrum OMIM:300887
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Highly arch... OMIM:619005
Raine Syndrome
Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Pr... OMIM:259775
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Abnormality of the dentition, Sparse ... ORPHA:560
Birk-Barel Syndrome
Tented upper lip vermilion, Highly arched eyebrow, High palate, Short philtrum, Long eyelashes, S... OMIM:612292
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Narrow mouth, Short nose, Downslanted palpebral ... ORPHA:83
Nager Syndrome
Sparse lower eyelashes, Abnormal nasal morphology, Non-midline cleft lip, Lower eyelid coloboma, ... ORPHA:245
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Anter... OMIM:217980
Peho Syndrome
Epicanthus, Short nose, Tented upper lip vermilion, Open mouth OMIM:260565
Difference Of Sex Development-Intellectual Disability Syndrome
Synophrys, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose ORPHA:2983
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short philtrum, Blepharophi... ORPHA:293725
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Selective tooth agenesis, Conical tooth, Cleft upper lip, Absent eyelashes, Lac... OMIM:106260
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Craniofacial-Deafness-Hand Syndrome
Telecanthus, Depressed nasal bridge, Narrow naris, Short nose, Downslanted palpebral fissures OMIM:122880
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Short nose, Downslanted palpebral fissures,... OMIM:601853
Smith-Magenis Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... ORPHA:819
3C Syndrome
Death in infancy, Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasal... ORPHA:7
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614207
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion... OMIM:616894
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Short nose, Downslanted palpebral fissures, Iris ... ORPHA:2143
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Open mouth, Wide mouth, Long philtrum, Short no... OMIM:616638
Aase-Smith Syndrome I
Death in infancy, Open mouth, Cleft palate, Ptosis OMIM:147800
Acrodysostosis
Delayed eruption of teeth, Epicanthus, Anteverted nares, Depressed nasal bridge, Open bite, Depre... ORPHA:950
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Abnormal... ORPHA:251028
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Pde4D Haploinsufficiency Syndrome
Thin upper lip vermilion, Ptosis, Depressed nasal bridge, Abnormal dental enamel morphology, Prom... ORPHA:439822
Orthostatic Hypotension 1
Hypomagnesemia, High palate, Increased blood urea nitrogen OMIM:223360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Intrauterine growth ret... ORPHA:2083
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Downturned ... OMIM:618590
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Synophrys, Oligodontia, High palate, Exaggerated median tongue furrow... OMIM:608670
Al-Raqad Syndrome
Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate OMIM:248390
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Long philtrum, Pterygium, Short nose ORPHA:93329
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Telecanthus, Oligodontia of primary teeth, Cleft palate ORPHA:2010
Arthrogryposis, Distal, Type 2A
Pursed lips, Ptosis, Epicanthus, Dental crowding, Telecanthus, Underdeveloped nasal alae, Whistli... OMIM:193700
Achondrogenesis
Short nose, Anteverted nares, Long philtrum ORPHA:932
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Wide nasal bridge, Cleft pa... OMIM:616367
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Macroglossia, Hig... ORPHA:357001
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal eyelid morphology... ORPHA:1812
Malan Syndrome
Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advanced eruption of teeth, Short... OMIM:614753
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Wide nasal bridge, Cleft palate, Curved linear dimple below th... OMIM:305400
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, High palate, Wide nasal bridge, Ptosis OMIM:218000
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormality of the dentition, Carious teeth, Tooth agenesis, Intrauterine growth... ORPHA:1786
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Anteverted nares, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Intrauterin... OMIM:616897
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Menke-Hennekam Syndrome 1
Deep philtrum, Depressed nasal ridge, High palate, Short philtrum, Anteverted nares, Depressed na... OMIM:618332
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
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose, Death in childhood OMIM:618961
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Death in ch... OMIM:613320
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Highly arched eyebrow, Wide nasal bridge, Submucous cleft so... ORPHA:2282
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, High palate, Narrow mouth, Intrauterine growth retardation, Shor... OMIM:219200
Distal Duplication 5Q
Epicanthus, Prominent nasal bridge, Carious teeth, Thin vermilion border, Chorioretinal coloboma,... ORPHA:96097
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Anteverted nares, Highly arched eyebrow, Lagophthalmos, Bulbous nose, Cleft palat... OMIM:615065
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Death i... ORPHA:1507
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Cenani-Lenz Syndrome
Ectropion, Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Sh... ORPHA:3258
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Sparse eyebrow, Nasolacrimal du... OMIM:604173
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Dend Syndrome
Anteverted nares, Bilateral ptosis, Downturned corners of mouth, Long philtrum, Short nose ORPHA:79134
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Wide nose, Short nose, Ptosis OMIM:614261
Marcus-Gunn Syndrome
Unilateral ptosis, Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, C... ORPHA:91412
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge ORPHA:210548
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Thick nasal alae, Chorioretinal coloboma ORPHA:163961
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... ORPHA:1071
Autosomal Recessive Faciodigitogenital Syndrome
Telecanthus, Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, Upsl... ORPHA:1974
Achondrogenesis Type 1B
Short nose, Anteverted nares, Long philtrum ORPHA:93298
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Lagophthalm... OMIM:616580
Trisomy 20P
Epicanthus, Thick eyebrow, Anteverted nares, Highly arched eyebrow, Abnormality of the dentition,... ORPHA:261318
8P23.1 Microdeletion Syndrome
Epicanthus, Prominent nasal bridge, Wide nasal bridge, Upslanted palpebral fissure, Thin vermilio... ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, ... OMIM:618454
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Prolidase Deficiency
Depressed nasal bridge, Concave nasal ridge, High palate, Short nose, Ptosis OMIM:170100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Depressed nasal bridge, Sparse eyelashes, Conical tooth, Underdeveloped ... OMIM:129400
Peho Syndrome
Epicanthus, Anteverted nares, Palpebral edema, Open mouth, Gingival overgrowth, Abnormal upper li... ORPHA:2836
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Upslanted palpebral fissure, Narrow mouth, Short nose OMIM:613735
Achondrogenesis Type 1A
Short nose, Anteverted nares, Long philtrum ORPHA:93299
Desmosterolosis
Epicanthus, Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Submucous cl... ORPHA:35107
Macrocephaly/Autism Syndrome
Epicanthus, Depressed nasal bridge, High palate, Long philtrum, Short nose OMIM:605309
Treacher Collins Syndrome 1
Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Lacrimal duct stenosis, Upper eyelid ... OMIM:154500
Trisomy 8Q
Non-midline cleft lip, Wide nasal bridge, Cleft palate, Orofacial cleft, Upslanted palpebral fiss... ORPHA:1752
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Upslanted palpebral fissure, Broad nasal tip ORPHA:166016
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Epicanthus, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate, Retinal colo... OMIM:300749
Lathosterolosis
Epicanthus, Anteverted nares, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, Hig... ORPHA:46059
Baller-Gerold Syndrome
Narrow nasal bridge, Epicanthus, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly ... ORPHA:1225
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... ORPHA:65286
Intellectual Developmental Disorder, Autosomal Dominant 1
Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Prominent nose, Bulbous nose, Dep... OMIM:156200
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Inte... OMIM:244450
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Long eyelashes, Volvulus, Short nose OMIM:617802
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Down... OMIM:300661
Mosaic Variegated Aneuploidy Syndrome 2
Epicanthus, Depressed nasal bridge, Bulbous nose, Severe intrauterine growth retardation, Narrow ... OMIM:614114
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge, Long philtrum ORPHA:93328
Autosomal Dominant Robinow Syndrome
High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodontia, Short ... ORPHA:3107
C Syndrome
Epicanthus, Anteverted nares, Accessory oral frenulum, Wide nasal bridge, Wide mouth, Upslanted p... OMIM:211750
Marshall Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin seq... OMIM:154780
Nicolaides-Baraitser Syndrome
Short lingual frenulum, High, narrow palate, Widely spaced teeth, Sparse medial eyebrow, Absent e... OMIM:601358
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Downslanted palpebral fissures, Shallow orbits ORPHA:1129
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Dental crowding, Abnormality of the dentition, Synophrys, Congenital ptosis, Eruption... ORPHA:476126
3Mc Syndrome 2
Prominent nasal bridge, Highly arched eyebrow, Cleft upper lip, Wide nasal bridge, Cleft palate, ... OMIM:265050
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Aganglionic megacolon, Anteverted nares, Blepharophimosis, Eyelid colobo... ORPHA:3339
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... ORPHA:177907
Monosomy 9P
Epicanthus, Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentiti... ORPHA:261112
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Anteverted nares, Wide nasal bri... OMIM:247200
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Wide nasal bridge, H... ORPHA:319182
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Aganglionic megacolon, Prominent nasal bridge, Short nose OMIM:613870
Ring Chromosome 7 Syndrome
Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, B... ORPHA:1449
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Aganglionic megacolon, Wide nasal bridge, Narrow palpebral fissure, Short columella, ... OMIM:613603
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Harel-Yoon Syndrome
Upslanted palpebral fissure, Short nose OMIM:617183
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Short nose, Depressed nasal bridge, Long philtrum OMIM:608776
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Wide nasal brid... ORPHA:989
Coffin-Siris Syndrome 4
Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ... OMIM:614609
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Depressed nasal bridge, Anteverted nares, Abnormality of the dentitio... OMIM:115150
Micro Syndrome
Anteverted nares, Wide nasal bridge, High palate, Short philtrum, Retinal coloboma, Intrauterine ... ORPHA:2510
Schneckenbecken Dysplasia
Short nose, Stillbirth, Cleft palate OMIM:269250
Tetrasomy 5P
Epicanthus, Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, High palate, Long p... ORPHA:3309
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Anteverted nares, Hypoplasia of teeth, Keratoconjunctivitis sicca, ... OMIM:234050
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... ORPHA:1973
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Desmosterolosis
Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Alveolar ridge overgrowth, Cleft palate, ... OMIM:602398
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Shallow orbits, Long eyelashes, N... OMIM:601353
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... OMIM:616430
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Diaphanospondylodysostosis
Epicanthus, Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Intrauterine growth reta... OMIM:608022
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Open mouth ORPHA:561
Intellectual Developmental Disorder, X-Linked 98
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... OMIM:300912
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:614732
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned... OMIM:615398
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Talon cusp, Tooth ... ORPHA:363417
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614613
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Prominent nose, Wi... ORPHA:96148
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Downslanted palpebral fissures, Cleft soft palate, Smooth philtrum OMIM:614526
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Wide nasal bridge, Cleft palate, Multiple impacted teeth, Narrow mouth,... OMIM:311300
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Triangular mouth, Cleft palate, ... OMIM:257300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Narrow nasal ridge, Premature loss of teeth, Hypoplasi... OMIM:608612
Ayme-Gripp Syndrome
Thin upper lip vermilion, Ptosis, Broad eyebrow, Depressed nasal bridge, Abnormality of the denti... OMIM:601088
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Bartsocas-Papas Syndrome 1
Absent eyebrow, Anal stenosis, Ablepharon, Cleft upper lip, Underdeveloped nasal alae, Cicatricia... OMIM:263650
Jacobsen Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Abnormal eyelash morphology, P... OMIM:147791
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... ORPHA:357074
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Protruding tongue, Upslanted palpebral fissure, Thick vermilion bord... OMIM:608779
Oculodentodigital Dysplasia
Narrow nasal bridge, Epicanthus, Median cleft lip, Anteverted nares, Abnormal dental enamel morph... ORPHA:2710
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphol... OMIM:305100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Open mouth, Cleft palate, Th... OMIM:614080
Meier-Gorlin Syndrome 6
Entropion, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal r... OMIM:616835
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Narrow palpebral fissure, Short nose OMIM:618087
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Duodenal stenosis ORPHA:2547
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Narrow mouth, Short nose, Lon... OMIM:228520
Trisomy 10P
Epicanthus, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Orofacial cleft, U... ORPHA:171929
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... ORPHA:93259
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Jacobsen Syndrome
Eyelid coloboma, Iris coloboma, Broad columella, Abnormality of the anus, Death in infancy, Antev... ORPHA:2308
Microcephaly-Micromelia Syndrome
Wide nose, Cleft palate, Narrow mouth, Neonatal death, Intrauterine growth retardation, Convex na... OMIM:251230
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, Synophrys, Wide ... OMIM:213980
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet... OMIM:615873
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Everted lower lip vermilio... OMIM:608013
Cleft Larynx, Posterior
Aspiration OMIM:215800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Unilateral ptosis, Anteverted nares, Choanal atresia, ... OMIM:301044
Cardiofaciocutaneous Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Abnormal eyelash morphology, Submucous clef... ORPHA:1340
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, Narrow palate, Wide... OMIM:227330
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Short nos... OMIM:616723
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Depressed nasal bridge, Antev... ORPHA:1465
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Absent eyebrow, Epicanthus, Depressed nasal bridge, Sparse eyelashes, ... OMIM:268400
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ... ORPHA:49041
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Deeah Syndrome
Death in infancy, Epicanthus, Malabsorption, Narrow palate, Death in adolescence, Death in childh... OMIM:619004
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... OMIM:619950
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... ORPHA:2753
Warburg Micro Syndrome 3
Downturned corners of mouth, Short nose, Narrow palate, Blepharophimosis OMIM:614222
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtr... ORPHA:457279
Desbuquois Dysplasia 1
Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Intrauterine growth retardation, Short... OMIM:251450
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... ORPHA:261494
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Elevated circulating creatine kinas... OMIM:606070
Chromosome 14Q11-Q22 Deletion Syndrome
Epicanthus, Depressed nasal bridge, Wide nasal bridge, Macroglossia, High palate, Narrow mouth, B... OMIM:613457
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mout... OMIM:301030
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Respiratory insuf... ORPHA:258
Jaberi-Elahi Syndrome
Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, Triangular mouth, Short nose OMIM:617988
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... ORPHA:93260
Trisomy 18
Epicanthus, Cyclopia, Choanal atresia, Esophageal atresia, Non-midline cleft lip, Cleft palate, N... ORPHA:3380
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, High palate, Short nose OMIM:617822
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Highly arched eyebrow, Protruding tongue, Synophrys, Downturned corners of mout... ORPHA:96147
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Shallow orbits, Intr... OMIM:612394
Toriello-Carey Syndrome
Telecanthus, Aganglionic megacolon, Sparse eyebrow, Cleft palate, Anteriorly placed anus, High pa... ORPHA:3338
Coffin-Lowry Syndrome
Wide nose, Telecanthus, Anteverted nares, Thick eyebrow, Highly arched eyebrow, Rectal prolapse, ... OMIM:303600
Microlissencephaly-Micromelia Syndrome
Short nose, Palpebral edema, Long philtrum ORPHA:50810
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Highly arched eyebrow, Wide nasal bridge, Orofacial cleft, Thin vermilion... ORPHA:1519
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide mouth, Oligodontia, Long ey... OMIM:201180
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Hypodontia ORPHA:544503
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge ORPHA:93258
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Narrow mouth, Bulbous nose, Th... OMIM:309590
Musculocontractural Ehlers-Danlos Syndrome
Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate, Prominent nasolabi... ORPHA:2953
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose OMIM:613038
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Short nose, Depressed nasal ridge OMIM:300863
Pallister-Hall Syndrome
Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cleft upper lip, Microglo... OMIM:146510
Cree Mental Retardation Syndrome
Coloboma, Downslanted palpebral fissures, Cleft soft palate, Ptosis OMIM:606851
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Angioid streaks of the fundus, Pulp calcification, Hyperphosphatemia, Taurodontia, En... OMIM:211900
Rhombencephalosynapsis
Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mo... ORPHA:59315
Chops Syndrome
Anteverted nares, High, narrow palate, Synophrys, Downturned corners of mouth, Long eyelashes, Lo... OMIM:616368
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Abnormal palate ... ORPHA:2719
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Mildly elevated creatine kinase, Dy... ORPHA:600
Gapo Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Sparse eyebrow, High, nar... OMIM:230740
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Epicanthus, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Rectal pr... OMIM:617157
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Overhanging nasal tip, Prominent nasal bridge, Cleft soft palate, Hia... OMIM:615582
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Protruding to... OMIM:301040
Lathosterolosis
Epicanthus, Anteverted nares, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, High... OMIM:607330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Zttk Syndrome
Epicanthus, Depressed nasal bridge, Abnormality of the dentition, Sparse eyebrow, Submucous cleft... OMIM:617140
C Syndrome
Death in infancy, Epicanthus, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, ... ORPHA:1308
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... OMIM:200600
Halperin-Birk Syndrome
Micrognathia, Optic atrophy, Pseudobulbar paralysis, High palate, Thick vermilion border, Aspiration OMIM:618651
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Short nose ORPHA:496790
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Short nose, Downslanted palpebra... OMIM:222448
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Ptosis, Depressed nasal bridge, Underdeveloped nasal alae, Keratoconjunctivitis sicca, Thin vermi... OMIM:616007
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Elevated circulating creatine kinase concentration, Chorioretinal lacunae, ... OMIM:618733
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short nose, High palate, Wide nasal bridge OMIM:618005
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Bilateral ptosis, Cleft palate, Shallow orbits,... ORPHA:1272
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Tongue thrusting, Irritability, Bruxism, Aspiration, Abnormal repetitiv... OMIM:613454
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Synophrys, Wide nasal bridge, Triangular mouth, High... OMIM:620369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... ORPHA:280633
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... OMIM:268310
Opitz Gbbb Syndrome
Thin upper lip vermilion, Cleft upper lip, Cleft palate, High palate, Unilateral cleft lip, Dysph... OMIM:300000
Tay-Sachs Disease
Aspiration, Cherry red spot of the macula OMIM:272800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Int... OMIM:619321
Pontine Tegmental Cap Dysplasia
Aspiration, Rib fusion, Dysphagia OMIM:614688
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Agitation, Irritability, Dysphagia ORPHA:2148
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Broad nasal tip, A... ORPHA:363611
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mo... ORPHA:90652
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Micrognathia, High, narrow palate, Pierre-Robin sequence, Downturned corners of ... ORPHA:96182
Renal Agenesis, Bilateral
Epicanthus, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate... ORPHA:1848
Orofaciodigital Syndrome Type 10
Telecanthus, Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Orofacial cleft, Narro... ORPHA:77301
Osteoglophonic Dysplasia
Delayed eruption of teeth, Telecanthus, Depressed nasal bridge, Anteverted nares, Choanal atresia... OMIM:166250
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Wide nose, Short nose OMIM:615851
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Retinal hemorrhage, Stridor, High palate, Aspiration, Open ... OMIM:614653
Marshall-Smith Syndrome
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal stenosis, Short phi... OMIM:602535
Orofaciodigital Syndrome Type 2
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of max... ORPHA:2751
Ogden Syndrome
Abnormal eyelid morphology, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion... OMIM:300855
Robinow Syndrome
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Persistence of primar... ORPHA:97360
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggres... ORPHA:2131
Spinocerebellar Ataxia Type 8
Aspiration, Dysphagia, Depression ORPHA:98760
Noonan Syndrome 3
Hypoplastic nasal bridge, Epicanthus, Anteverted nares, High palate, Short nose, Downslanted palp... OMIM:609942
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Cleft lip, Synophrys, Anosmia, Dental malocclusion, Cleft palate, Hypoplasia of ... OMIM:603457
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Triangular mouth, Keratoconjunctivitis s... OMIM:601675
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Shallow orbits, Long palpebral fissure, Short nose, Lon... OMIM:258480
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow philtrum, Th... OMIM:601812
Limb-Mammary Syndrome
Absent lacrimal punctum, Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Sparse ... ORPHA:69085
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventilatory defec... OMIM:233450
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Upslanted palpebral fissure, Broad nasal tip ORPHA:293948
Atelosteogenesis, Type I
Depressed nasal bridge, Cleft palate, Stillbirth, Neonatal death, Short nose OMIM:108720
Omodysplasia 1
Epicanthus, Depressed nasal bridge, Wide nasal bridge, Popliteal pterygium, Narrow palpebral fiss... OMIM:258315
Treacher Collins Syndrome 2
Choanal atresia, Lower eyelid coloboma, Cleft palate, Choanal stenosis, Downslanted palpebral fis... OMIM:613717
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral f... ORPHA:522077
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Pulmonary embolism, Dyspnea, Dysphagia, Unconjugated hyperbilirubinemia, In... ORPHA:447
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival overgrowth, High palate, Dy... OMIM:619777
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Blomstrand Lethal Chondrodysplasia
Natal tooth, Telecanthus, Depressed nasal bridge, Anteverted nares, Protruding tongue, Long philt... ORPHA:50945
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Anteverted nares, Carious teeth, Thin vermilion border, Smooth ton... OMIM:601559
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Death in infancy, Depressed nasal bridge, Short palpebral fissure, Prot... OMIM:612289
Stickler Syndrome
Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphol... ORPHA:828
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Aggressive behavior, Oral-pharyngeal dysphagia, T... ORPHA:404448
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose, Thick vermilion border, Long philtrum OMIM:252160
Chand Syndrome
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral... ORPHA:1401
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Wide nasal bridge, Cleft... ORPHA:306542
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Self-mutilation, Dysphagia OMIM:618922
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... ORPHA:2729
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... OMIM:300990
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Telecanthus, Depressed nasal bridge, Underdeveloped na... ORPHA:79328
Cadds
Intrauterine growth retardation, Short nose ORPHA:369942
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter... OMIM:119500
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small intestine, Sh... OMIM:200995
Witteveen-Kolk Syndrome
High, narrow palate, Short philtrum, High palate, Shallow orbits, Iris coloboma, Medial flaring o... OMIM:613406
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Highly arched eyebrow, Trichiasis, Epiblepharon, Triangular mouth, In... OMIM:618460
Native American Myopathy
Bilateral ptosis, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft pa... ORPHA:168572
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Inc... ORPHA:457395
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Upslanted palpebral fissure, Long philtrum, Short nose, Smooth phil... OMIM:231050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Dental crowding, Pneumonia, Impulsivity, Aggressive behavior, Carious... ORPHA:353281
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... ORPHA:109
Phocomelia, Schinzel Type
High, narrow palate, Tracheoesophageal fistula, Cleft palate, Intrauterine growth retardation, Sh... ORPHA:2879
Cornelia De Lange Syndrome
Synophrys, Downturned corners of mouth, Widely spaced teeth, High palate, Depressed nasal bridge,... ORPHA:199
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum OMIM:617527
Cerebrocostomandibular Syndrome
Anal stenosis, Epicanthus, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cl... OMIM:117650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Abnormality of the dentition, Convex nasal ridge, Narrow mouth ORPHA:90154
Plaa-Associated Neurodevelopmental Disorder
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum ORPHA:521426
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Synophrys, Downturned corners ... ORPHA:444077
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Malrotati... ORPHA:264450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Synophrys, Coloboma, Short philtrum, High palate, Chorioretinal coloboma, Ir... OMIM:619475
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Epicanthus, Jejunal atresia, Ileal atresia, Epicanthus inversus, Upsla... OMIM:618820
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate ORPHA:99742
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Gingival overgrowth, Narrow mo... ORPHA:508533
Simpson-Golabi-Behmel Syndrome
Death in infancy, Epicanthus, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal ... ORPHA:373
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Epicanthus, Telecanthus, Broad nasal tip, Wide nasal bridge, Upslanted ... OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Epicanthus, Telecanthus, Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nos... OMIM:619522
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Esophagitis, Blepharophimosis, Short nose, Short palpebral fissu... ORPHA:3342
Esophageal Atresia
Respiratory distress, Cleft lip, Episodic respiratory distress, Chronic pulmonary obstruction, Cl... ORPHA:1199
Spondylodysplastic Ehlers-Danlos Syndrome
Ptosis, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Optic disc colobo... ORPHA:536471
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Telecanthus, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cleft... OMIM:601776
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... ORPHA:353277
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Epicanthus, Telecanthus, Macroglossia, Conjunctivitis, Thick vermilion border, Long eyelashes, Sh... ORPHA:505248
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Wide nasal bridge, Antecubital pterygium, Popliteal pterygium, Thin vermilion border,... OMIM:609945
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... ORPHA:79345
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum OMIM:614185
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bulbous nose, Short denta... OMIM:271510
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Increased circulating free fatty acid level OMIM:610768
Degcags Syndrome
Prominent nose, Synophrys, High palate, Anteverted nares, Hiatus hernia, Abnormal eyelash morphol... OMIM:619488
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... OMIM:272460
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerat... ORPHA:709
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Carious teeth, High palate, Long philtrum, Microdontia,... ORPHA:536467
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Pyloric st... ORPHA:268261
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Prominent nose, Deep philtrum, Synophrys, Downturned corners of mouth, High pala... OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Broad lateral eyebrow, Epicanthus, Depressed nasal bridge, Sparse eyebrow, Wide nasal bridge, Cle... ORPHA:500150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Anteriorly placed anu... ORPHA:95699
Bilateral Perisylvian Polymicrogyria
Apnea, Micrognathia, Protruding tongue, Pseudobulbar paralysis, Dysphagia, Aspiration ORPHA:98889
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge OMIM:614225
Femoral-Facial Syndrome
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Upslanted palpebral fissure, L... OMIM:134780
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Broad nasal tip, Abnormality of the gingiva, An... ORPHA:798
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... OMIM:269150
Sponastrime Dysplasia
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Epicanthus, Hypop... ORPHA:93357
Diamond-Blackfan Anemia
Epicanthus, Depressed nasal bridge, Cleft soft palate, Cleft lip, Wide nasal bridge, High palate,... ORPHA:124
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Epicanthus, Depressed nasal bridge, Anteverted nares, Intestina... OMIM:312870
Pallister-Hall Syndrome
Natal tooth, Ptosis, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft lip, Depre... ORPHA:672
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Pallister-Killian Syndrome
Tented upper lip vermilion, Anteriorly placed anus, Bifid uvula, Depressed nasal bridge, Antevert... OMIM:601803
Williams-Beuren Syndrome
Colonic diverticula, Medial flaring of the eyebrow, Epicanthus, Depressed nasal bridge, Anteverte... OMIM:194050
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate, Long philtrum, S... OMIM:271665
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Malabsorption, Wide nasal bridge, Gingival overgrowt... ORPHA:93
Williams Syndrome
Rectal prolapse, Microdontia, Abnormal dental morphology, Abnormal dental enamel morphology, Open... ORPHA:904
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Epicanthus, Cleft soft palate OMIM:614557
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Hardikar Syndrome
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal var... OMIM:301068
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Viss Syndrome
Chronic gastritis, Ectropion, Depressed nasal bridge, Prominent nasal bridge, Duodenitis, Intesti... OMIM:619472
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Broad columella, Iris colob... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Iris coloboma, Abnormal dental m... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Iris coloboma, Abnormal dental m... ORPHA:261552
Penile Agenesis
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia ORPHA:49
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Narrow mouth OMIM:606721

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

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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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