Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thoracic cage shape Wizem1(IMPC)Ccpcz HET Early adult 3.56×10-07
preweaning lethality, complete penetrance Wizem1(IMPC)Ccpcz HOM   Early adult 0.00
increased freezing behavior Wizem1(IMPC)Ccpcz HET Early adult 2.04×10-05
abnormal tooth morphology Wizem1(IMPC)Ccpcz HET Early adult 2.58×10-09
increased blood urea nitrogen level Wizem1(IMPC)Ccpcz HET Early adult 1.63×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

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
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Palant Cleft Palate Syndrome
Bulbous nose, Exaggerated cupid's bow, Cleft palate, Upslanted palpebral fissure OMIM:260150
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Epicanthus, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
17Q21.31 Microduplication Syndrome
High palate, Thick eyebrow, Abnormality of the dentition, Short philtrum, Epicanthus, Short nose,... ORPHA:217340
Burn-Mckeown Syndrome
Short palpebral fissure, Bilateral choanal atresia, Short nose, Abnormal palate morphology, Promi... ORPHA:1200
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Syngnathia
Cleft palate OMIM:119550
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... ORPHA:1906
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Ankyloblepharon, Cleft palate OMIM:106250
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Highly arched eye... ORPHA:261120
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip ORPHA:1074
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Long philtrum OMIM:218010
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Megaepiphyseal Dwarfism
Epicanthus, Cleft palate OMIM:249230
Mental Retardation, X-Linked 91
High palate, Epicanthus, Short nose, Macrodontia OMIM:300577
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Epicanthus, Anteverted nares, Short nose ORPHA:1450
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares OMIM:614069
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Blepharophimosis, Oral synechia ORPHA:2016
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Potocki-Shaffer Syndrome
Short philtrum, Downturned corners of mouth, Downslanted palpebral fissures, Short nose, Sparse l... OMIM:601224
Teebi Hypertelorism Syndrome 2
High palate, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Broad nasal tip, Depressed... OMIM:619736
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Highly arched eyebro... ORPHA:438178
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Upslanted palpebral fissure, Depressed nasal brid... OMIM:617752
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Downslanted... ORPHA:1695
Anencephaly 2
Median cleft palate, Short palpebral fissure, Bifid nose, Median cleft lip, Cleft of alveolar rid... OMIM:619452
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Azotemia, Familial
Azotemia OMIM:109160
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum ORPHA:46
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Lacrimal duct atresia, Depressed nasal ridge... ORPHA:1529
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Bulbous nose, Wide nasal bridge, Cleft palate OMIM:612913
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... ORPHA:884
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Gingival fibromatosis, Short nose, Median cleft lip a... ORPHA:1832
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Upslanted palpebral fissure, Broad nasal tip, Long philtrum, Epicanthus, Short nose,... OMIM:613544
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Depressed nasal bridge, Short philtrum, Downturned corners of mouth,... OMIM:613443
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Chung-Jansen Syndrome
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Short philtrum, L... OMIM:617991
Frontofacionasal Dysplasia
Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Absent inner ey... ORPHA:1791
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Downslanted palpebral fissures, Epicanthus, Short nose, Narrow palpebral fissure,... OMIM:613603
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Downslanted palpebral fissures, Wide nose, Short nose ORPHA:217385
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Anteverted nares, Sm... OMIM:614744
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Thick eyebrow, Everted lower lip vermilion, Short philtrum, Short nose, Synophrys, Th... ORPHA:2429
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Downslanted palpebral fissures, Epicanthus, Short nose, Narrow palpebr... OMIM:613604
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Maxillonasal Dysplasia
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... ORPHA:1248
Acromicric Dysplasia
Abnormal eyebrow morphology, Narrow mouth, Bulbous nose, Long philtrum, Short nose, Long eyelashe... ORPHA:969
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Highly arched eyebrow, Thin upper lip vermilion, Intrauterine growth retardation, U... OMIM:611867
Joubert Syndrome 26
Cleft palate, Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares, Ptosis OMIM:616784
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Treacher Collins Syndrome 2
Cleft palate, Coloboma, Downslanted palpebral fissures, Choanal atresia, Choanal stenosis OMIM:613717
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal bridge OMIM:616430
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Downslanted palpebral fissures, Telecanthus, I... ORPHA:1993
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Cleft lip, Synophrys OMIM:300263
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Bulbous nose, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures,... OMIM:614105
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Recurrent upper respiratory ... OMIM:300209
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Short nose, Distichiasis, Long philtrum ORPHA:2598
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Protruding tongue, Synophrys DECIPHER:52
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Downslanted palpebral fissures, Iris coloboma, Median cleft lip, Nasal ... OMIM:155145
Ohdo Syndrome
Narrow mouth, Sparse eyebrow, Thin vermilion border, Depressed nasal bridge, Long philtrum, Wide ... OMIM:249620
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes OMIM:200130
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares OMIM:615942
Zechi-Ceide Syndrome
Cleft upper lip, Short palpebral fissure, Cleft palate, Oligodontia, Wide nose, Narrow palpebral ... OMIM:612916
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Tele... OMIM:618828
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short nose, Death in infancy, Abnormal palate morphology, Intrauterine growth retar... ORPHA:1495
Pierpont Syndrome
Unilateral narrow palpebral fissure, Prominent median palatal raphe, Long upper lip, Everted lowe... OMIM:602342
Miller-Dieker Syndrome
Anteverted nares, Epicanthus, Short nose, Abnormality of upper lip ORPHA:531
Intellectual Developmental Disorder, X-Linked 30
High palate, Thick upper lip vermilion, Upslanted palpebral fissure, Short nose, Open mouth, Ante... OMIM:300558
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Abnormality of upper lip, Epicanthus, Short nose, Antever... ORPHA:2849
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Ptosis, Cleft palate, Coloboma OMIM:120433
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Blepharonasofacial Malformation Syndrome
Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Wide nose, Sparse lateral e... ORPHA:1252
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Downslanted palpebral fissures, Broad nasal tip, Short nose, Open mouth OMIM:613670
Tetrasomy 18P
Narrow mouth, Thin vermilion border, Long philtrum, Downslanted palpebral fissures, Epicanthus, S... ORPHA:3307
Fetal Alcohol Syndrome
Cleft palate, Microdontia, Telecanthus, Epicanthus, Short nose, Non-midline cleft lip, Anteverted... ORPHA:1915
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Short nose, Tented upper lip vermilion, Synophrys, Open mouth, Denta... OMIM:300143
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Triangular mouth, Abnormality of the dentition, Broad nasal tip, Long philtr... OMIM:618529
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short palpebral fissure, Downslanted palpebral fissures, Short nose, Blepharophimos... OMIM:611936
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep philtrum, Short nose, Open mout... OMIM:137550
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... ORPHA:1327
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Thick eyebrow, Everted lower lip vermilion, Depressed nasal bridge, Broad columella, Downturned c... OMIM:617865
Pontocerebellar Hypoplasia, Type 10
High palate, Long palpebral fissure, Short nose, Long eyelashes, Thin upper lip vermilion, Highly... OMIM:615803
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Upslanted palpebral fissure OMIM:300850
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Epicanthus, Long... OMIM:162100
Oculomaxillofacial Dysostosis
Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ... ORPHA:1794
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Advanced eruption of tee... OMIM:615873
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Epicanthus, Cleft lip,... OMIM:618761
Coffin-Siris Syndrome 9
High palate, Short palpebral fissure, Low hanging columella, Everted lower lip vermilion, Long no... OMIM:615866
Cataract, Aberrant Oral Frenula, And Growth Retardation
Accessory oral frenulum, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Short ... OMIM:115645
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Fetal Trimethadione Syndrome
High palate, Depressed nasal bridge, Epicanthus, Short nose, Synophrys, Intrauterine growth retar... ORPHA:1913
Lowry-Maclean Syndrome
Intrauterine growth retardation, Convex nasal ridge, Delayed eruption of teeth, Cleft palate OMIM:600252
Peho-Like Syndrome
Epicanthus, Short nose, Open mouth OMIM:617507
Bartsocas-Papas Syndrome
Narrow mouth, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Sparse or absent ... ORPHA:1234
Baker-Gordon Syndrome
Prominent nasal tip, Epicanthus, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Short nose, Intrauterine growth retardation ORPHA:2370
Pallister-Hall-Like Syndrome
Cleft palate, Depressed nasal bridge, Short nose, Death in infancy, Median cleft lip, Microglossia OMIM:241800
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Recurrent viral upper respiratory trac... OMIM:616898
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Cleft palate, Broad nasal tip, Short nose, Tented upper lip vermilion, Wide nasal bridge OMIM:614207
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short nose, Wide nasal bridge, Cleft palate OMIM:614078
Bencze Syndrome
Telecanthus, Submucous cleft hard palate, Upslanted palpebral fissure, Open bite ORPHA:1241
Gms Syndrome
Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Epicanthus, Short nose OMIM:138770
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Upslanted palpebral fissure, Short philtrum, Short nose, Open mouth, Anteverted nares ORPHA:228384
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Rapadilino Syndrome
High palate, Slender nose, High, narrow palate, Cleft palate, Narrow palpebral fissure, Blepharop... OMIM:266280
Non-Distal Trisomy 13Q
High palate, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abnormality of th... ORPHA:1702
Spinocerebellar Ataxia With Dysmorphism
Downturned corners of mouth, Short nose, Anteverted nares, Thick lower lip vermilion, Ptosis OMIM:271270
Frontonasal Dysplasia 3
Absent eyebrow, Cleft palate, Sparse eyelashes, Upper eyelid coloboma, Underdeveloped nasal alae,... OMIM:613456
Waardenburg Syndrome Type 1
Cleft upper lip, Thick eyebrow, Cleft palate, Telecanthus, Short nose, White eyebrow, Tented uppe... ORPHA:894
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Tented upper lip vermilion, Thin uppe... OMIM:615716
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Carious teeth, Deep philtrum, Short nos... ORPHA:2701
Frontofacionasal Dysplasia
Cleft upper lip, Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid uvul... OMIM:229400
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate, Choanal stenosis OMIM:618939
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Broad nasal tip, Telecanthus, Bifid nasal tip, Median cleft lip OMIM:300484
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Hartsfield Syndrome
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Telecanthus, Non-midline cl... ORPHA:2117
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Bulbous nose, Agenesis of central incisor, Long upper lip, Cleft... ORPHA:364577
Cebalid Syndrome
High palate, Thick eyebrow, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral ... OMIM:618774
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Long philtrum, Wide nasal bridge, Downslanted palpebral fissures, Short n... ORPHA:401935
Orofacial Cleft 15
Bulbous nose, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Agenesis of lateral ... OMIM:616788
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Short palpebral fissure, Cleft palate, Thin vermilion border, Shor... OMIM:608572
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate, Coloboma OMIM:248390
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Macroglossia, Everted lower lip vermilion, Depressed nasal bridge, Palpebral edema,... ORPHA:261144
Meckel Syndrome, Type 8
Cleft upper lip, Short nose, Cleft palate, Depressed nasal ridge OMIM:613885
Uvula, Bifid
Bifid uvula OMIM:192100
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Microdont... OMIM:225000
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Narrow mouth, Short palpebral fissure, Depressed nasal bridge, Long philtrum, Epican... OMIM:613457
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Bifid ... ORPHA:1790
Cleft Soft Palate
Cleft soft palate OMIM:119570
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thick eyebrow, Thin vermilion border, Depressed nasal bridge, H... OMIM:617412
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Long palpebral fissure, Long philtrum, Oral cleft, Epicanthus, Short... OMIM:243310
Thomas Syndrome
Cleft upper lip, Downslanted palpebral fissures, Cleft palate ORPHA:3316
Fetal Hydantoin Syndrome
Wide mouth, Depressed nasal ridge, Cleft palate, Everted lower lip vermilion, Epicanthus, Short n... ORPHA:1912
Fetal Akinesia Deformation Sequence 2
High palate, Cleft palate, Downslanted palpebral fissures, Tented upper lip vermilion, Wide nasal... OMIM:618388
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Upper eyelid coloboma, Limbal dermoid, Bifid nasal tip, Cleft lip, Wi... ORPHA:398156
Microphthalmia, Syndromic 8
Cleft upper lip, Short palpebral fissure, Cleft palate, Oral cleft, Widely-spaced maxillary centr... OMIM:601349
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Ankyloblepharon, Cleft palate, Non-midline cleft lip ORPHA:1072
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Thick eyebrow, Cleft palate, Upslanted palpebral fissure, Thin verm... OMIM:614701
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Cleft palate, Death in infancy, Wide nasal bridge ORPHA:93946
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Long philtrum, Downslanted palpebral fissures, Telecanthus, Short nose... OMIM:615539
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Flared nostrils, Short palpebral fissure, Cleft palate, Depressed n... OMIM:206920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose, Intrauterine growth retardation, Epicanthus OMIM:616910
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short nose, Upslanted palpebral fissure, Ptosis OMIM:613458
Acrocephalopolydactyly
Epicanthus, Short nose, Depressed nasal ridge ORPHA:221054
Trisomy 12P
Anal atresia, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Downturned corners of mou... ORPHA:1699
Anophthalmia Plus Syndrome
Cleft palate, Abnormal nasal morphology, Bilateral cleft lip and palate, Iris coloboma, Choanal a... ORPHA:1104
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Short nose, Long eyelashes, Anteverted nares, Broad philtrum, Wide nasal bridge OMIM:618577
Distal Trisomy 18Q
High palate, Carious teeth, Short nose, Iris coloboma, Choanal atresia, Anteverted nares, Abnorma... ORPHA:1716
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Short palpebral fissure, Thin vermilion border, Depressed nasal bridge, Short philt... OMIM:618622
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Cleft palate, Retinal coloboma, Long philtrum, Downturned corners of mouth, Deep ph... OMIM:618571
Glutamine Deficiency, Congenital
Thin vermilion border, Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Wide... OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Dental crowding, Bulbous nose, Thick eyebrow, Upslanted palpebral fissure, Depressed... OMIM:617061
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Coloboma OMIM:600251
Congenital Disorder Of Glycosylation, Type Iu
High palate, Short nose, Thin upper lip vermilion, Death in infancy OMIM:615042
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypodontia, Sparse eyebrow, Short palpebral fissure, Thin vermilion border, Sparse eyelashes, Sho... OMIM:613026
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Upslanted palpebral fissure, Long philtrum, Downslanted palpebral fissures, Short n... OMIM:616420
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Short nose, Long philtrum ORPHA:1389
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Depression, Hypercalcemia, Hypermagnesemia ORPHA:94059
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Abnormality... OMIM:608156
Microform Holoprosencephaly
Duodenal atresia, Cleft palate, Short philtrum, Oral cleft, Narrow nasal bridge, Short nose, Iris... ORPHA:280200
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Downturned corners of mouth, Short nose, Choanal atresia, Sy... ORPHA:1895
Even-Plus Syndrome
High palate, Anal atresia, Hypodontia, Depressed nasal ridge, Bifid nasal tip, Short nose, Synoph... OMIM:616854
Craniodigital-Intellectual Disability Syndrome
Short nose, Long eyelashes, Thick eyebrow, Narrow nasal bridge ORPHA:1514
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Choanal atresia, Cleft palate OMIM:241850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Long philtrum, Anterior open-bite malocclusion, Downsla... OMIM:617877
Braddock-Carey Syndrome 2
Wide mouth, Bulbous nose, Cleft palate, Downslanted palpebral fissures, Pierre-Robin sequence OMIM:619981
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Cleft palate, Abnormality of ... ORPHA:1135
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners of mouth, Downs... ORPHA:391372
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Thick eyebrow, Low hanging columella, Upslanted palpebral fissure, Long philtrum, Na... OMIM:619383
Encephalopathy Due To Sulfite Oxidase Deficiency
Thick vermilion border, Short nose, Long philtrum ORPHA:833
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Macroglossia, Upslanted palpebral fissure, Depressed nasal... ORPHA:369891
Bainbridge-Ropers Syndrome
High palate, Wide mouth, Broad nasal tip, Depressed nasal bridge, Downslanted palpebral fissures,... OMIM:615485
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... OMIM:618779
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Schilbach-Rott Syndrome
Narrow mouth, Upslanted palpebral fissure, Long nose, Bifid uvula, Epicanthus, Prominent nose, Bl... OMIM:164220
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Short nose, Wide nasal bridge OMIM:612563
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Epicanthus, Short nose, Anteverted nares, Abno... ORPHA:1458
Al-Raqad Syndrome
Narrow mouth, Thin upper lip vermilion, Short nose OMIM:616459
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Developmental And Epileptic Encephalopathy 75
Upslanted palpebral fissure, Short philtrum, Short nose, Open mouth, Anteverted nares, Wide nasal... OMIM:618437
Distal Monosomy 9P
High, narrow palate, Cleft palate, Upslanted palpebral fissure, Abnormality of the dentition, Epi... ORPHA:1642
46,Xy Sex Reversal 4
High palate, Increased blood urea nitrogen, Cleft palate, Micrognathia, Long philtrum, Elevated c... OMIM:154230
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Upslanted p... OMIM:616331
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Upslanted palpebral fissure, Downslanted palpebral fissures, Deep philtrum, Short n... OMIM:610536
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Highly arched eyebrow, Long philtrum OMIM:300887
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
16P12.1P12.3 Triplication Syndrome
Wide mouth, Bulbous nose, Thick eyebrow, High, narrow palate, Short palpebral fissure, Thin vermi... ORPHA:485405
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Cleft palate, Depressed nasal bridge, Long palpebral fissure, Long philtrum, Downtur... ORPHA:163649
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth OMIM:226650
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Tented upper lip vermilion, Anteverted nares, Thin upper lip vermilion, Thick lower l... OMIM:619854
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Long nose, Oral cleft, Downslanted palpebral fissures, Epicanthus, Short nose, Abse... ORPHA:261211
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Depressed nasal bridge, Neonatal death, Bilateral choanal atresia, Sho... OMIM:619859
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Stickler Syndrome Type 1
Short nose, Long philtrum, Cleft palate ORPHA:90653
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Short palpebral fissure, Depressed nasal bridge, Downslanted palpebral fissures, Sh... ORPHA:284169
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissure... OMIM:145420
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short nose, Convex nasal ridge, Cleft palate ORPHA:2145
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Depressed nasal bridge, Downslanted palpebral fissures, Deep philtrum, Short nose, T... ORPHA:314655
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Cleft palate, Upslanted palpebral fissure, Telecanthus, Epicanthus, Shor... ORPHA:79113
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mouth, Downslante... ORPHA:391408
Dermotrichic Syndrome
Depressed nasal bridge, Short nose, Blepharophimosis, Aganglionic megacolon ORPHA:99688
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Gingival overgrowth, Abnormal nasal bridge morphology, De... ORPHA:363659
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft upper lip, Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Short philtrum, Long... OMIM:239300
Verheij Syndrome
Long philtrum, Coloboma, Short nose, Thin upper lip vermilion, Wide nasal bridge OMIM:615583
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate OMIM:612370
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Short... ORPHA:171839
Johanson-Blizzard Syndrome
Anal atresia, Malabsorption, Abnormality of the dentition, Oligodontia, Abnormality of the nares,... ORPHA:2315
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Microdontia, Short nose, Open mouth, Anteverted nares, Delayed eruption of permanen... OMIM:619356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Long palpebral fissure,... OMIM:614749
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Upslanted palpebral fissure, Intestinal malrotation, Depressed nasal bridge, Abnorm... ORPHA:404440
Diprosopus
Abnormality of the nose, Cleft palate, Non-midline cleft lip ORPHA:1681
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Epicanthus, Short nose, Anteverted nares, Thick vermilion border, Pt... ORPHA:1185
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Narrow palate, Cleft palate, Sparse eyebrow, Sparse ey... OMIM:605627
Congenital Disorder Of Glycosylation, Type 2V
High palate, Bulbous nose, Cleft palate, Low hanging columella, Short philtrum, Downslanted palpe... OMIM:619493
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Bulbous nose, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Shor... OMIM:618454
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Slender nose, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:615419
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Telecanthus, Short nose, Synophrys, Thin upper lip vermilion, Anosmia ORPHA:1295
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hypoplasia of the primary ... ORPHA:90321
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Depressed nasal ridge, Upslanted palpebr... ORPHA:870
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Short nose, Tented upper lip vermilion ORPHA:85277
Vitamin K Antagonist Embryofetopathy
Macroglossia, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares, Intrauterine... ORPHA:1914
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... OMIM:129400
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Short nose, Death i... ORPHA:166272
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Median cleft palate, Depressed nasal bridge, Popliteal pterygium, Downslanted palpebral fissures,... OMIM:119800
Lowry-Maclean Syndrome
Intrauterine growth retardation, Convex nasal ridge, High, narrow palate, Cleft palate, Pyloric s... ORPHA:2409
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft... OMIM:192445
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Retinal coloboma, Abnormality of the dentitio... OMIM:258865
Holoprosencephaly 11
Cleft lip, Thick eyebrow, Synophrys, Cleft palate OMIM:614226
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Upslanted palpebral fissure, Long palpebral fissure, Long philtrum, Prominen... OMIM:619179
Weiss-Kruszka Syndrome
Downslanted palpebral fissures, Epicanthus, Short nose, Exaggerated cupid's bow, Anteverted nares... OMIM:618619
Ruvalcaba Syndrome
Narrow mouth, Convex nasal ridge, Thin vermilion border, Downslanted palpebral fissures, Short no... ORPHA:3121
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Wide mouth, Thick eyebrow, Cleft palate, Downslanted palpebral fissures, Epicant... ORPHA:1394
Femoral-Facial Syndrome
Cleft palate, Upslanted palpebral fissure, Long philtrum, Oral cleft, Short nose, Thin upper lip ... ORPHA:1988
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Thick eyebrow, Upslanted palpebral fissure, Depressed nasal bridge, Deep philtrum, S... OMIM:619833
Orofaciodigital Syndrome X
Telecanthus, Depressed nasal bridge, Cleft palate OMIM:165590
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Short nose, Wide nasal bridge, Ptosis OMIM:218000
16P13.11 Microdeletion Syndrome
Cleft upper lip, Wide mouth, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures... ORPHA:261236
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Everted lower lip vermilion, Dimple on nasal tip, Broad nasal tip, Apl... ORPHA:1784
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ptosis, Glossoptosis, Short nose, Anteverted nares, Blepharophimosis, Underdeveloped nasal alae, ... ORPHA:2031
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Depressed nasal ridge, Short philtrum, Short nose, Death in infancy, Intrauterine gro... ORPHA:163966
Smith-Kingsmore Syndrome
Wide mouth, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Short nose, Op... OMIM:616638
White-Kernohan Syndrome
Wide mouth, Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Depressed nasal ... OMIM:619426
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Depressed nasal ridge, Telecanthus, Choanal a... OMIM:607597
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypogeusia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Emotion... OMIM:223900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Macroglossia, Depressed nasal bridge, Epicanthus, Short nose, Protruding tongue, A... OMIM:242860
Intellectual Disability-Strabismus Syndrome
High palate, Wide mouth, Upslanted palpebral fissure, Depressed nasal bridge, Abnormality of the ... ORPHA:363528
Pfeiffer Syndrome
High palate, Depressed nasal bridge, Shallow orbits, Downslanted palpebral fissures, Short nose, ... OMIM:101600
Orthostatic Hypotension 1
High palate, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Rhizomelic Dysplasia, Patterson-Lowry Type
Epicanthus, Wide nose, Short nose, Depressed nasal ridge ORPHA:2831
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short nose, Cleft palate, Ptosis OMIM:614261
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Depressed nasal bridge,... OMIM:259775
Toluene Embryopathy
Short palpebral fissure, Thin vermilion border, Epicanthus, Short nose, Smooth philtrum ORPHA:1920
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Dental crowding, Short palpebral fissure, Depressed nasal bridge, Death in childhood... OMIM:619005
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Tented... OMIM:618430
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Downslanted palpebral fi... OMIM:200990
Disorder Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Short nose, Synophrys ORPHA:2983
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Cleft palate, Depressed nasal bridge, Downturned corners of mouth, Telec... OMIM:217980
Glass Syndrome
High palate, Narrow mouth, Bulbous nose, Cleft palate, Long nose, Oligodontia, Narrow nose, Downs... OMIM:612313
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Antley-Bixler Syndrome
Narrow mouth, Cleft palate, Long philtrum, Downslanted palpebral fissures, Short nose, Choanal at... ORPHA:83
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
3C Syndrome
Ectopic anus, Anal atresia, High, narrow palate, Cleft palate, Intestinal malrotation, Depressed ... ORPHA:7
Marshall Syndrome
High palate, Thick upper lip vermilion, Cleft palate, Sparse eyebrow, Sparse eyelashes, Abnormali... ORPHA:560
Acrodysostosis
Depressed nasal ridge, Open bite, Depressed nasal bridge, Delayed eruption of teeth, Epicanthus, ... ORPHA:950
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Depressed nasal bridge, Short philtrum, Long palpebral fissure, Long philtru... ORPHA:439822
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Short nose, Long philtrum OMIM:605309
Achondrogenesis
Anteverted nares, Short nose, Long philtrum ORPHA:932
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Blepharitis, Lacrimal duct atresia, Hypodontia, Cleft palate, Ankyloblepharon, S... OMIM:106260
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Upslanted palpebral fis... OMIM:616894
Nager Syndrome
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Abnormal nasal morphology, Downslant... ORPHA:245
Peho Syndrome
Epicanthus, Short nose, Tented upper lip vermilion, Open mouth OMIM:260565
Arthrogryposis, Distal, Type 2A
High palate, Narrow mouth, Pursed lips, Long philtrum, Whistling appearance, Telecanthus, Short n... OMIM:193700
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Narrow mouth, Long philtrum, Carious teeth, Downslanted palpebral fissures, Short no... OMIM:219200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short palpebral fissure, Highly arched eyebrow, Short nose, Prominent nasal bridge, Intrauterine ... ORPHA:2083
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Depressed nasal bridge, Short nose, Death in childhood OMIM:618961
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Dental malocclusion, Narrow mouth, Convex nasal ridge, Cleft palate, Abnormality of ... ORPHA:251028
Gomez-Lopez-Hernandez Syndrome
High palate, Thin vermilion border, Downslanted palpebral fissures, Short nose, Anteverted nares,... OMIM:601853
Aase-Smith Syndrome I
Ptosis, Death in infancy, Cleft palate, Open mouth OMIM:147800
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Iris ... ORPHA:2143
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, ... ORPHA:819
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
High palate, Wide mouth, Long nose, Depressed nasal bridge, Downturned corners of mouth, Telecant... OMIM:618590
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Telecanthus, Oligodontia of primary teeth, Cleft palate ORPHA:2010
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Highly arched eyebrow, Submucous cleft soft palate, Short nose, Anteverted nar... ORPHA:2282
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Long philtrum, Short nose, Pterygium, Anteverted nares ORPHA:93329
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Long eyelashes, Tented upp... OMIM:612292
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Aplasia/Hypoplasia of the eyebrow, Depressed nasal bridge, Microdontia, Downslanted... ORPHA:1812
Distal Trisomy 5Q
Narrow mouth, Thin vermilion border, Long philtrum, Carious teeth, Downslanted palpebral fissures... ORPHA:96097
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Epicanthus, Short nose, Tented upper lip vermilion, Thick vermilion borde... OMIM:616723
19P13.13 Microdeletion Syndrome
High palate, Narrow mouth, Macroglossia, Depressed nasal bridge, Downslanted palpebral fissures, ... ORPHA:357001
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissures, Shor... ORPHA:1786
Aarskog-Scott Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Downslanted ... OMIM:305400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Telecanthus, Short nose, Unilateral cleft lip, Anteverted nares, Intrauterine growt... OMIM:616897
Menke-Hennekam Syndrome 1
High palate, Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Short philtrum, Downsla... OMIM:618332
Achondrogenesis Type 1B
Anteverted nares, Short nose, Long philtrum ORPHA:93298
Craniofacial-Deafness-Hand Syndrome
Short nose OMIM:122880
Dend Syndrome
Long philtrum, Downturned corners of mouth, Bilateral ptosis, Short nose, Anteverted nares ORPHA:79134
Poikiloderma With Neutropenia
Blepharitis, Sparse eyebrow, Depressed nasal bridge, Long philtrum, Carious teeth, Recurrent sinu... OMIM:604173
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Depressed nasal bridge, Downslanted pal... ORPHA:1507
Trisomy 20P
Ectopic anus, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abnormality of t... ORPHA:261318
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Wide mouth, Everted lower lip vermilion, Open bite, Upslanted palpebral fissure, Lon... ORPHA:1974
8P23.1 Microdeletion Syndrome
High palate, Intrauterine growth retardation, Upslanted palpebral fissure, Thin vermilion border,... ORPHA:251071
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth, Downs... OMIM:614753
Usher Syndrome Type 2
Depression, Anxiety, Microdontia, Carious teeth, Abnormality of dental color, Abnormal dental ena... ORPHA:231178
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Achondrogenesis Type 1A
Anteverted nares, Short nose, Long philtrum ORPHA:93299
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Intestinal malrotation, Long nose, Narrow nose, Carious teeth, Short n... OMIM:617602
Cenani-Lenz Syndrome
Ectropion, Convex nasal ridge, Hypodontia, High, narrow palate, Short philtrum, Downslanted palpe... ORPHA:3258
Marcus-Gunn Syndrome
Cleft palate, Abnormality of the sense of smell, Coloboma, Cleft lip, Choanal atresia, Unilateral... ORPHA:91412
Peho Syndrome
Gingival overgrowth, Palpebral edema, Abnormality of upper lip, Epicanthus, Short nose, Anteverte... ORPHA:2836
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Downturned corn... OMIM:615398
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Meckel diverticulum, Chorioretinal coloboma ORPHA:163961
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Bulbous nose, Cleft palate, Tented upper lip vermilion, Intrauterine growth retardat... OMIM:608670
Desmosterolosis
Narrow mouth, Cleft palate, Intestinal malrotation, Depressed nasal bridge, Bifid uvula, Abnormal... ORPHA:35107
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Depr... OMIM:154780
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Holoprosencephaly 3
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Cleft lip, Solitary m... OMIM:142945
Lathosterolosis
High palate, Bulbous nose, Gingival overgrowth, Long philtrum, Downturned corners of mouth, Downs... ORPHA:46059
Kaufman Oculocerebrofacial Syndrome
High palate, Narrow mouth, Sparse eyebrow, Upslanted palpebral fissure, Intestinal malrotation, D... OMIM:244450
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Retinal coloboma, Broad nasal tip, Long philtrum, Wide nasal bridge, Downslanted pal... OMIM:300749
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Bulbous nose, Prominent nasal tip, Cleft soft palate, Short philtrum, Depressed nasal tip, Broad ... ORPHA:293725
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Short nose, Long philtrum ORPHA:93328
C Syndrome
High palate, Wide mouth, Accessory oral frenulum, Upslanted palpebral fissure, Epicanthus, Short ... OMIM:211750
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Narrow mouth, Bulbous nose, Duodenal atresia, Short palpe... OMIM:614114
Autosomal Dominant Robinow Syndrome
Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Short nose, Median cleft ... ORPHA:3107
Prolidase Deficiency
High palate, Depressed nasal bridge, Short nose, Concave nasal ridge, Ptosis OMIM:170100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Phosphoribosylpyrophosphate Synthetase Superactivity
High palate, Wide mouth, Convex nasal ridge, Depressed nasal bridge, Death in childhood, Downslan... OMIM:300661
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Long eyelashes, Natal tooth, Volvulus OMIM:617802
Baller-Gerold Syndrome
High palate, Anal atresia, Malabsorption, Narrow mouth, Intrauterine growth retardation, Cleft pa... ORPHA:1225
Nicolaides-Baraitser Syndrome
Wide mouth, Bulbous nose, Sparse medial eyebrow, Downslanted palpebral fissures, Short nose, Long... OMIM:601358
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Slanting of the palpebral fissure, Abnormality of the dentition, L... ORPHA:476126
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Cleft hard palate, Upslanted palpebral fissure ORPHA:166016
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Epicanthus, Short nose, Anteverted nares, Hypoplasia of teeth, Keratoconjunctiv... OMIM:234050
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Limbal dermoid, Telecanthus, Abnormal conjunctiva morphology, Short nose... ORPHA:3339
Trisomy 8Q
High palate, Cleft palate, Everted lower lip vermilion, Upslanted palpebral fissure, Bifid tongue... ORPHA:1752
Diaphanospondylodysostosis
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Epicanthus, Short nose, Intrauterine... OMIM:608022
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Duodenal atresia, Cleft palate, Upslanted palpebral fissure, Delayed e... OMIM:247200
3Q29 Microdeletion Syndrome
High palate, Everted lower lip vermilion, Abnormality of the dentition, Short philtrum, Oral clef... ORPHA:65286
Intellectual Developmental Disorder, Autosomal Dominant 1
Wide mouth, Bulbous nose, Thick eyebrow, Macroglossia, Everted lower lip vermilion, Depressed nas... OMIM:156200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Short nose, Prominent nasal bridge, Aganglionic megacolon OMIM:613870
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Ankyloblepharon, Sparse eyebrow, Sparse eyelashes, Absent lacrimal punc... ORPHA:1071
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Deep philtrum, Short nose, Wide nose, Anteverted nares OMIM:613320
Acrodysostosis 2 With Or Without Hormone Resistance
Anteverted nares, Depressed nasal bridge, Short nose, Intrauterine growth retardation OMIM:614613
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Downslanted palpebral fissures, Short nose, Shallow orbits ORPHA:1129
Schneckenbecken Dysplasia
Short nose, Stillbirth, Cleft palate OMIM:269250
Wiedemann-Steiner Syndrome
High palate, Thick eyebrow, Short palpebral fissure, Long philtrum, Telecanthus, Epicanthus, Shor... ORPHA:319182
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Narrow palpebral fissure, Upslanted palpebral fissure OMIM:618087
Desmosterolosis
Alveolar ridge overgrowth, Cleft palate, Hypoplastic nasal bridge, Gingival fibromatosis, Downsla... OMIM:602398
Limb-Mammary Syndrome
Bifid uvula, Lacrimal duct atresia, Hypodontia, Cleft palate OMIM:603543
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Upper eyelid coloboma, Downslanted palpebral fissures, Sp... OMIM:154500
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Bulbous nose, Absent eyebrow, Open bite, Abnormality of the den... OMIM:115150
Monosomy 9P
High palate, Narrow mouth, Thick eyebrow, Cleft palate, Upslanted palpebral fissure, Abnormality ... ORPHA:261112
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Depressed nasal bridge, Short nose, Long philtrum OMIM:608776
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Short nose, Intrauterine growth retardation OMIM:614732
Tetrasomy 5P
High palate, Upslanted palpebral fissure, Long philtrum, Epicanthus, Short nose, Anteverted nares... ORPHA:3309
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Narrow mouth, Cleft palate, Depressed nasal bridge, Shallow orbits, Long philtrum, Downslanted pa... OMIM:601353
Otopalatodigital Syndrome, Type I
Narrow mouth, Cleft palate, Wide nasal bridge, Downslanted palpebral fissures, Short nose, Multip... OMIM:311300
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Up... ORPHA:177907
Faciocardiorenal Syndrome
Narrow mouth, Hypodontia, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae, Smooth phil... ORPHA:1973
Micro Syndrome
High palate, Retinal coloboma, Short philtrum, Short nose, Anteverted nares, Intrauterine growth ... ORPHA:2510
Harel-Yoon Syndrome
Short nose, Upslanted palpebral fissure OMIM:617183
Marshall-Smith Syndrome
Gingival overgrowth, Short nose, Protruding tongue, Choanal atresia, Open mouth, Anteverted nares ORPHA:561
Robinow Syndrome, Autosomal Dominant 1
High palate, Triangular mouth, Depressed nasal bridge, Delayed eruption of teeth, Downslanted pal... OMIM:180700
Holoprosencephaly 7
Upslanted palpebral fissure, Depressed nasal tip, Bilateral cleft lip and palate, Flat nasal alae... OMIM:610828
3Mc Syndrome 2
Cleft upper lip, Cleft palate, Depressed nasal tip, Highly arched eyebrow, Downturned corners of ... OMIM:265050
Distal Monosomy 10Q
High palate, Anal atresia, Cleft palate, Upslanted palpebral fissure, Wide nasal bridge, Downslan... ORPHA:96148
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Broad nasal tip, Long philtrum, Carious teeth, Downslanted palpebral fissures, Short... ORPHA:357074
Jacobsen Syndrome
U-Shaped upper lip vermilion, Depressed nasal bridge, Pyloric stenosis, Telecanthus, Short nose, ... OMIM:147791
Intellectual Developmental Disorder, X-Linked 98
Thin vermilion border, Long nose, Short philtrum, Depressed nasal bridge, Downturned corners of m... OMIM:300912
Warburg Micro Syndrome 3
Downturned corners of mouth, Short nose, Narrow palate, Blepharophimosis OMIM:614222
Fibrochondrogenesis 1
Narrow mouth, Cleft palate, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, ... OMIM:228520
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Death in early adulthood, Short nose, Dental ... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Short palpebral fissure, Upslanted palpebral fissure, Short nose, Wide nose, Protru... OMIM:608779
Oculodentodigital Dysplasia
Tooth agenesis, Taurodontia, Thin anteverted nares, Cleft palate, Upslanted palpebral fissure, Pr... ORPHA:2710
Bartsocas-Papas Syndrome 1
Cleft upper lip, Anal atresia, Ablepharon, Ectropion, Ankyloblepharon, Cleft palate, Upslanted pa... OMIM:263650
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Ayme-Gripp Syndrome
Narrow mouth, Upslanted palpebral fissure, Abnormality of the dentition, Depressed nasal bridge, ... OMIM:601088
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Duodenal stenosis ORPHA:2547
Facial Dysmorphism With Multiple Malformations
Anal atresia, Narrow mouth, Bulbous nose, Long palpebral fissure, Downturned corners of mouth, Do... OMIM:227255
Meier-Gorlin Syndrome 6
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissures, Shor... OMIM:616835
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypodontia, Sparse eyebrow, Everted lower lip vermilion, Sparse eyelashes, Depressed... OMIM:305100
Trisomy 10P
High palate, Intrauterine growth retardation, Short palpebral fissure, Upslanted palpebral fissur... ORPHA:171929
Ring Chromosome 7 Syndrome
Severe intrauterine growth retardation, Narrow mouth, Median cleft palate, Cleft palate, Thin ver... ORPHA:1449
Gaucher Disease, Perinatal Lethal
Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Neonatal death, Short nose, Op... OMIM:608013
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Anal atresia, Cleft palate, Thin vermilion border, Depressed nasal bridge, Long phil... OMIM:614080
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Diastema, Epicanthus, Short nose, Anteverted nares, Short upper lip, Wide nasal bridge OMIM:271960
Jacobsen Syndrome
Pyloric stenosis, Downslanted palpebral fissures, Short nose, Intrauterine growth retardation, Ec... ORPHA:2308
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... ORPHA:989
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, Upslanted palpebral fissure, Short philtrum, Highly arched eyebrow, Narrow nose, Do... OMIM:301044
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Dental malocclusion, Narrow palate, Long palpebral fissure, Downslanted ... OMIM:227330
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Cleft palate, Intestinal malrotation, Depressed nasal bridge, Short no... ORPHA:93259
Alkuraya-Kucinskas Syndrome
High palate, Upslanted palpebral fissure, Depressed nasal bridge, Short nose, Anteverted nares OMIM:617822
Orofaciodigital Syndrome Iii
Bulbous nose, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Chromosome 17Q12 Duplication Syndrome
Downslanted palpebral fissures, Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Adenylosuccinase Deficiency
Wide mouth, Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum OMIM:103050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Cleft upper lip, Gingival overgrowth, Thick eyebrow, Cleft palate, Upslanted palpebr... OMIM:213980
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Short palpebral fissure, Upslanted palpebral fiss... OMIM:211910
Mosaic Variegated Aneuploidy Syndrome 1
Triangular mouth, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Long philtru... OMIM:257300
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Depressed nas... OMIM:268400
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Narrow mouth, Thin upper lip vermilion, Short nose OMIM:613735
Cardiofaciocutaneous Syndrome
High palate, Aplasia/Hypoplasia of the eyebrow, Depressed nasal bridge, Long palpebral fissure, S... ORPHA:1340
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Deep philtrum, Short nose, Thin upper lip vermilion ORPHA:329178
Desbuquois Dysplasia 1
Narrow mouth, Depressed nasal bridge, Long philtrum, Short nose, Concave nasal ridge, Intrauterin... OMIM:251450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Downslanted palpebral fissures, Short nose, Thin up... ORPHA:457279
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Coloboma, Cleft soft palate, Ptosis OMIM:606851
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Cleft palate, Depressed nasal ridge, Short philtrum, Short nose, Intra... ORPHA:2753
Van Esch-O'Driscoll Syndrome
Wide mouth, Intrauterine growth retardation, Short palpebral fissure, Upslanted palpebral fissure... OMIM:301030
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Depressed nasal bridge, Long philtrum, Short nose, Death in infancy, Anteverted nares, Meckel div... OMIM:602613
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Coffin-Siris Syndrome
Wide mouth, Thick eyebrow, Broad nasal tip, Depressed nasal bridge, Recurrent upper respiratory t... ORPHA:1465
Jaberi-Elahi Syndrome
Triangular mouth, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Short nose OMIM:617988
Kleefstra Syndrome
Macroglossia, Everted lower lip vermilion, Upslanted palpebral fissure, Delayed eruption of teeth... ORPHA:261494
Trisomy 18
Anal atresia, Narrow mouth, Narrow palate, Intrauterine growth retardation, Cleft palate, Epicant... ORPHA:3380