banner
Genes Phenotypes Help, News, Blog

Gene: Six2 MGI:102778

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sine oculis-related homeobox 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Six2 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.

The table below shows human diseases associated to Six2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Prominent palatine ridges, Broad nasal tip ORPHA:488437

The table below shows human diseases predicted to be associated to Six2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
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
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, High palate, Short philtrum, Short nose ORPHA:217340
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip ve... ORPHA:261120
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Sprengel Deformity
Cleft palate ORPHA:3181
Maxillonasal Dysplasia
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... ORPHA:1248
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Non-Distal Duplication 10Q
Depressed nasal bridge, High palate, Everted lower lip vermilion, Short nose, Convex nasal ridge ORPHA:1695
Parc Syndrome
Cleft palate OMIM:600331
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... OMIM:617752
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Short nose, ... ORPHA:1832
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge, Cleft palate OMIM:612913
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... OMIM:619736
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
17P13.3 Microduplication Syndrome
Wide nose, High palate, Short nose, Narrow mouth ORPHA:217385
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... OMIM:614922
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, High palate, Long philtrum ORPHA:2598
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Anencephaly 2
Median cleft lip, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge OMIM:619452
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate OMIM:600252
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood OMIM:604273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Neonatal death, Vesicoureteral reflux, Renal dysplasia ORPHA:85284
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Joubert Syndrome 26
Cleft lip, Recurrent upper respiratory tract infections, Anteverted nares, Cleft palate OMIM:616784
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares, Cleft palate OMIM:184840
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Bamforth-Lazarus Syndrome
Cleft palate, Bilateral choanal atresia OMIM:241850
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... OMIM:614744
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick... OMIM:618506
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth ORPHA:93946
Microphthalmia, Syndromic 12
Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal death OMIM:615524
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Cleft palate, Broad nasal tip OMIM:300263
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
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
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia ORPHA:171839
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Renal hypoplasia ORPHA:2256
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... OMIM:616898
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph... OMIM:618761
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate OMIM:612370
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Even-Plus Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia OMIM:616854
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... OMIM:300558
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, High palate, Long philtrum, Sh... OMIM:613544
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Cleft palate, Underdeveloped nasal alae OMIM:611867
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... OMIM:137550
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Diprosopus
Non-midline cleft lip, Cleft palate, Abnormality of the nose ORPHA:1681
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Death in infancy OMIM:615042
Orofaciodigital Syndrome Viii
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate OMIM:300484
Perlman Syndrome
Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal upper lip morpholo... ORPHA:2849
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... OMIM:613604
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Chung-Jansen Syndrome
Anteverted nares, Thin vermilion border, High palate, Short philtrum, Long philtrum, Short nose OMIM:617991
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Pallister-Hall-Like Syndrome
Death in infancy, Median cleft lip, Depressed nasal bridge, Cleft palate, Microglossia, Short nose OMIM:241800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae OMIM:612138
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
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
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Stickler Syndrome Type 1
Short nose, Cleft palate, Long philtrum ORPHA:90653
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, High palate, Wide nasal bridge, Cleft palate OMIM:618388
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia OMIM:614838
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Renal hypoplasia ORPHA:464288
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Stickler Syndrome, Type Ii
Depressed nasal bridge, Anteverted nares, High, narrow palate, Pierre-Robin sequence, Cleft palat... OMIM:604841
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short nose, Abnormal palate morphology, Narrow mouth ORPHA:1495
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose ORPHA:2429
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Zechi-Ceide Syndrome
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodontia OMIM:612916
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... OMIM:601224
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip OMIM:613885
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... ORPHA:1716
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Cleft Soft Palate
Cleft soft palate OMIM:119570
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum ORPHA:969
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder OMIM:300076
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... OMIM:620107
Non-Distal Duplication 13Q
Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo... ORPHA:1702
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Short nose, Ope... OMIM:619356
Cach Syndrome
Renal hypoplasia ORPHA:135
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia ORPHA:85321
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Broad nasal tip OMIM:613670
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Renal hypoplasia ORPHA:254913
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Treacher Collins Syndrome 4
Choanal stenosis, Cleft palate OMIM:618939
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Short nose, Dentinogenesis i... ORPHA:166272
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Depressed nasal ridge, Narrow mout... ORPHA:1529
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... OMIM:602342
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Braddock-Carey Syndrome 2
Wide mouth, Bulbous nose, Pierre-Robin sequence, Cleft palate OMIM:619981
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Cleft palate, Narrow mouth, Bro... ORPHA:398156
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney OMIM:609053
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ... OMIM:614105
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Cleft palate, Narrow mouth OMIM:614078
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Wide nasal br... OMIM:618529
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Craniosynostosis, Herrmann-Opitz Type
Short nose, Convex nasal ridge, Cleft palate ORPHA:2145
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno... ORPHA:1790
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Non-midline cleft lip, Cleft palate, Microdontia, Sho... ORPHA:1915
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula OMIM:300958
Miller-Dieker Syndrome
Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Intestinal malrotation, Wide nasal bridge, Long... ORPHA:401935
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip OMIM:601349
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental eruption, Dental maloc... ORPHA:1327
Trisomy 12P
Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Short ... ORPHA:1699
Peho-Like Syndrome
Short nose, Open mouth OMIM:617507
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... OMIM:619859
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... OMIM:613390
Blepharonasofacial Malformation Syndrome
Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Too... ORPHA:1252
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Fetal Trimethadione Syndrome
High palate, Short nose, Depressed nasal bridge ORPHA:1913
Periventricular Nodular Heterotopia 7
Anteverted nares, Dental crowding, Pierre-Robin sequence, Cleft palate, Narrow mouth, Short nose OMIM:617201
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft OMIM:141400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose ORPHA:1234
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... OMIM:616331
Emanuel Syndrome
Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:609029
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose OMIM:615539
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose ORPHA:1914
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Fetal Hydantoin Syndrome
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose ORPHA:1912
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia OMIM:617660
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Cleft palate, Downturned corners of mouth, High palate,... ORPHA:163649
Frontonasal Dysplasia 3
Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Depressed nasal bridge, Cleft palate, Long nasal bridge OMIM:162100
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat... OMIM:610015
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
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,... ORPHA:2701
Isotretinoin Syndrome
Depressed nasal bridge, Cleft palate ORPHA:2305
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... OMIM:617877
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hypoplasia of teeth, Thin vermilion ... OMIM:249620
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, ... OMIM:620250
Marden-Walker Syndrome
Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis OMIM:601186
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... ORPHA:894
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, High palate... OMIM:619383
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Underdeveloped nasal alae OMIM:601355
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... ORPHA:1973
Fetal Gaucher Disease
Death in infancy, Depressed nasal bridge, Anteverted nares, Stillbirth, High palate, Neonatal death ORPHA:85212
Oculomaxillofacial Dysostosis
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... ORPHA:1794
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corners of mouth, Macroglossi... ORPHA:369891
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... ORPHA:1458
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... ORPHA:1104
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downturned corners of mo... OMIM:618571
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose ORPHA:1642
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum OMIM:618577
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossopt... ORPHA:1358
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage OMIM:619695
Intellectual Developmental Disorder, X-Linked 21
Short nose, Tented upper lip vermilion, Dental crowding, Open mouth OMIM:300143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614749
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... OMIM:617865
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Cleft palate ORPHA:2476
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnormality of the d... OMIM:258865
Femoral-Facial Syndrome
Thin upper lip vermilion, Cleft palate, Orofacial cleft, Long philtrum, Short nose ORPHA:1988
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Short philtrum, Open mouth ORPHA:228384
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, O... ORPHA:870
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Wide mouth, Short nose, Smooth philtrum OMIM:615419
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Orofaciodigital Syndrome X
Depressed nasal bridge, Cleft palate OMIM:165590
Emanuel Syndrome
Micropenis, Renal hypoplasia, Unilateral renal agenesis ORPHA:96170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... OMIM:239300
Tetrasomy 18P
Narrow mouth, Short nose, Thin vermilion border, Long philtrum ORPHA:3307
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit... ORPHA:2315
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Everted lower lip... ORPHA:261144
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney OMIM:616541
15Q14 Microdeletion Syndrome
Prominent nasal bridge, Abnormality of the dentition, Cleft palate, Short philtrum, Long philtrum... ORPHA:261190
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Downturned corners of mouth, Thin vermilion border, Narrow mou... ORPHA:1895
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge ORPHA:210548
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Bulbous nose, Wide nasal bridg... OMIM:617061
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia OMIM:603467
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Narrow mouth, Short nose, Long philtrum ORPHA:83
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Cleft palate OMIM:602196
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon ... ORPHA:2409
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum OMIM:601853
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Cleft palate, Bifid nose, Narrow mouth OMIM:239800
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Dental crowding, Choanal stenosis, High palate, Short nose OMIM:101600
Genitopalatocardiac Syndrome
Cleft palate, Cleft upper lip OMIM:231060
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose OMIM:242860
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
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614207
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short philtrum, Prominent n... ORPHA:293725
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:560
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Aase-Smith Syndrome I
Death in infancy, Open mouth, Cleft palate OMIM:147800
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... ORPHA:261236
Mandibulofacial Dysostosis-Microcephaly Syndrome
Cleft palate, Short nose, Accessory oral frenulum ORPHA:79113
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia OMIM:147950
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Depressed nasal bridge ORPHA:99688
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... ORPHA:322
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, High palate, Wide nasal bridge OMIM:218000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Cleft palate OMIM:607597
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat... OMIM:206920
Pseudotrisomy 13 Syndrome
Micropenis, Renal agenesis, Renal hypoplasia OMIM:264480
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Acrodysostosis
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Open bite, Depressed nasal r... ORPHA:950
Lymphatic Malformation 5
Cleft palate OMIM:153200
Smith-Magenis Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... ORPHA:819
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia, Cleft palate, Cleft upper lip OMIM:244200
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Cleft palate OMIM:614880
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Short nose ORPHA:485405
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Open mouth ORPHA:561
Raine Syndrome
Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Protruding tongue, Gingiv... OMIM:259775
Malan Syndrome
Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advanced eruption of teeth, Short... OMIM:614753
Schilbach-Rott Syndrome
Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula OMIM:164220
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners of mouth, Promi... ORPHA:391372
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip OMIM:602418
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, High palate,... ORPHA:314655
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Esophageal atresia, Deep philtrum, Cleft palate, Short nose OMIM:610536
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... OMIM:164200
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... ORPHA:93259
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
3C Syndrome
Death in infancy, Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasal... ORPHA:7
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge ORPHA:93258
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Intestinal malrotation, Long nose, Carious teeth, Downturned co... OMIM:617602
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, Short ... ORPHA:284169
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Narrow nasal ridge, Premature loss of teeth, Hypoplasi... OMIM:608612
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... OMIM:615803
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Wide nose, Short nose OMIM:614261
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Pterygium Colli, Isolated
Short nose OMIM:177990
Achondrogenesis
Short nose, Anteverted nares, Long philtrum ORPHA:932
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Aganglionic megacolon, Prominent nasal bridge, Short nose OMIM:613870
Al-Raqad Syndrome
Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Wide nasal bridge, Orofacial cleft, ... OMIM:243310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned... OMIM:615398
Prolidase Deficiency
High palate, Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Abnormal... ORPHA:251028
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... OMIM:610828
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... OMIM:618590
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Death in infancy, Depressed nasal bridge, Anteverted nares, Prominent n... OMIM:615485
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Death in ch... OMIM:613320
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,... OMIM:605627
Schneckenbecken Dysplasia
Short nose, Stillbirth, Cleft palate OMIM:269250
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Wide nasal bridge, Cleft palate, Curved linear dimple below th... OMIM:305400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Duodenal stenosis ORPHA:2547
Andersen-Tawil Syndrome
Renal tubular dysfunction, Renal hypoplasia ORPHA:37553
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose, Death in childhood OMIM:618961
Cerebrofacioarticular Syndrome
Hypospadias, Renal hypoplasia ORPHA:314679
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose, Smooth philtrum OMIM:618828
Macrocephaly/Autism Syndrome
High palate, Short nose, Depressed nasal bridge, Long philtrum OMIM:605309
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Trisomy 8Q
Non-midline cleft lip, Wide nasal bridge, Cleft palate, Orofacial cleft, Abnormal oral frenulum m... ORPHA:1752
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Van Maldergem Syndrome 1
Hypospadias, Renal hypoplasia OMIM:601390
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... ORPHA:65286
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose, Smooth philtrum OMIM:616420
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma ORPHA:2874
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Short nose OMIM:616897
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Thick nasal alae ORPHA:163961
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High ... OMIM:619833
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Volvulus, Short nose, Depressed nasal bridge, Natal tooth OMIM:617802
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Broad nasal tip ORPHA:166016
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Depressed nasal ridge, Wide mouth, Short philtrum, Short nose ORPHA:163966
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate OMIM:620183
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, High palate, Narrow mouth, Short nose, Long philtrum OMIM:219200
Achondrogenesis Type 1B
Short nose, Anteverted nares, Long philtrum ORPHA:93298
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... ORPHA:93260
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... OMIM:618430
Short-Rib Thoracic Dysplasia 12
Neonatal death, Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
Van Maldergem Syndrome 2
Micropenis, Hypospadias, Renal hypoplasia OMIM:615546
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Hypoplasia of teeth, Downturned corners of... ORPHA:391408
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin sequence, Cleft... OMIM:154780
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na... ORPHA:357001
Achondrogenesis Type 1A
Short nose, Anteverted nares, Long philtrum ORPHA:93299
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Ulnar-Mammary Syndrome
Hypoplasia of penis, Renal hypoplasia ORPHA:3138
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge, Intestinal malrotation ORPHA:2143
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Low inserti... OMIM:619005
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... OMIM:616894
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate OMIM:617337
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Kinsship Syndrome
Death in infancy, Renal hypoplasia, Horseshoe kidney OMIM:619297
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the dentition, Wide mo... ORPHA:363528
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Long philtrum OMIM:300887
Arthrogryposis, Distal, Type 2A
Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appearance, Wide nasal bridge,... OMIM:193700
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Cleft pal... ORPHA:989
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Narrow mouth, Short nose, Lon... OMIM:228520
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Anteriorly placed ... OMIM:217980
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge, Long philtrum ORPHA:93328
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Open mouth, Wide mouth, Long philtrum, Short no... OMIM:616638
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly placed anus,... ORPHA:1225
C Syndrome
Anteverted nares, Accessory oral frenulum, Wide nasal bridge, Wide mouth, High palate, Thick ante... OMIM:211750
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Short nose, C... ORPHA:3258
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose OMIM:613038
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, 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
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Micro Syndrome
Anteverted nares, Wide nasal bridge, High palate, Short philtrum, Short nose ORPHA:2510
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Short nose, Depressed nasal bridge, Long philtrum OMIM:608776
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum ORPHA:2983
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate, Long philtrum, Short nos... OMIM:300749
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... OMIM:608156
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Open mouth, Cleft palate, Thin vermilion... OMIM:614080
Peho Syndrome
Short nose, Tented upper lip vermilion, Open mouth OMIM:260565
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 1
Thin upper lip vermilion, Prominent nose, Bulbous nose, Depressed nasal ridge, Downturned corners... OMIM:156200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Microdontia, Short nose ORPHA:1812
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, High palate, Ever... ORPHA:1974
Desmosterolosis
Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Submucous cleft hard pal... ORPHA:35107
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Talon cusp, Tooth ... ORPHA:363417
16P11.2P12.2 Microdeletion Syndrome
Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridge, Short nose, Open... ORPHA:261211
Tetrasomy 5P
Anteverted nares, Wide nasal bridge, High palate, Long philtrum, Short nose ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... OMIM:616430
Rhombencephalosynapsis
Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mo... ORPHA:59315
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... ORPHA:177907
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Wide nasal bridge, Submucous cleft soft palate, Short nose ORPHA:2282
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia ORPHA:1295
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border ORPHA:1185
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Orofaciodigital Syndrome Type 4
Wide nose, Median cleft lip, Abnormal oral mucosa morphology, Choanal atresia, High, narrow palat... ORPHA:2753
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Alveolar ridge overgrowth, Cleft palate, Gingival fib... OMIM:602398
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum ORPHA:93329
Warburg Micro Syndrome 3
Downturned corners of mouth, Short nose, Narrow palate OMIM:614222
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... OMIM:608670
Diaphanospondylodysostosis
Cleft palate, Depressed nasal bridge, Depressed nasal ridge, Short nose OMIM:608022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney ORPHA:508498
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Death i... ORPHA:1507
Oculodentodigital Dysplasia
Narrow nasal bridge, Median cleft lip, Anteverted nares, Abnormal dental enamel morphology, Prema... ORPHA:2710
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Convex nasal ridge OMIM:300661
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtr... ORPHA:457279
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Thin vermilion bor... OMIM:613026
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Wide nasal bri... ORPHA:96148
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, High palate, Wide nasal bridge OMIM:618005
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... ORPHA:357074
Alkuraya-Kucinskas Syndrome
High palate, Depressed nasal bridge, Anteverted nares, Short nose OMIM:617822
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Wide nasal bridge, Thin vermilion border, High palate, Short nose ORPHA:251071
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Ruvalcaba Syndrome
Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge ORPHA:3121
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge, Cleft... OMIM:616835
Meckel Syndrome, Type 5
Cleft palate, Cleft upper lip OMIM:611561
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo... OMIM:616580
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Wide nasal bridge, Cleft p... OMIM:247200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Short nose, Long ph... OMIM:601353
Pde4D Haploinsufficiency Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent no... ORPHA:439822
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Eruption failure, High palate, Long philtrum, Shor... ORPHA:476126
Musculocontractural Ehlers-Danlos Syndrome
Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate, Prominent nasolabi... ORPHA:2953
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal... ORPHA:363659
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, Narrow palate, Wide... OMIM:227330
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... OMIM:200600
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Lathosterolosis
Anteverted nares, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, High palate, Lo... ORPHA:46059
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia ORPHA:264200
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hypospadias, ... OMIM:270400
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Intellectual Developmental Disorder, X-Linked 98
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... OMIM:300912
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Triangular mouth, Cleft palate, Long philtru... OMIM:257300
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Choanal atresia, Cleft palate, Rectovaginal fistula, Anal atresia OMIM:270420
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Hypodontia ORPHA:544503
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormality of the dentition, Carious teeth, Tooth agenesis, Short nose, Abnorma... ORPHA:1786
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Bulbous nose, ... OMIM:115150
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... ORPHA:2911
Trisomy 20P
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Abnormal palate morp... ORPHA:261318
Weiss-Kruszka Syndrome
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow OMIM:618619
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip... ORPHA:96147
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Diast... OMIM:244450
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Peho Syndrome
Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Short nose, Abn... ORPHA:2836
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Toluene Embryopathy
Short nose, Thin vermilion border, Smooth philtrum ORPHA:1920
Robinow Syndrome
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Persistence of primar... ORPHA:97360
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614613
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate ORPHA:99742
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Protruding tongue, Thick vermilion border, Narrow mouth, Short nose,... OMIM:608779
Harel-Yoon Syndrome
Short nose OMIM:617183
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... ORPHA:261494
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Depressed nasal brid... OMIM:180700
Desbuquois Dysplasia 1
Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Short nose, Smooth philtrum, Long phil... OMIM:251450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Protruding tongue, Diaste... OMIM:301040
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... OMIM:601358
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Everted lower lip vermilio... OMIM:608013
Dend Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum ORPHA:79134
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Wide nasal bridge, Macroglossia, High palate, Narrow mouth, Short nose, L... OMIM:613457
Renal Agenesis, Bilateral
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Abnormal i... ORPHA:1848
Deeah Syndrome
Death in infancy, Malabsorption, Narrow palate, Death in adolescence, Death in childhood, High pa... OMIM:619004
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia OMIM:620005
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mo... ORPHA:90652
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Atelosteogenesis, Type I
Depressed nasal bridge, Cleft palate, Stillbirth, Neonatal death, Short nose OMIM:108720
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Open bite, High... ORPHA:3107
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Distal Duplication 5Q
Prominent nasal bridge, Carious teeth, Thin vermilion border, Narrow mouth, Short nose, Long phil... ORPHA:96097
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum OMIM:617527
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Wide nasal bridge, Triangular mouth, High palate, Sh... OMIM:620369
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Renal hypoplasia OMIM:619321
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... OMIM:619488
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Ayme-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Wide nasal bridge... OMIM:601088
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Plaa-Associated Neurodevelopmental Disorder
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum ORPHA:521426
Renpenning Syndrome 1
Death in childhood, Hypospadias, Renal hypoplasia, Phimosis OMIM:309500
C Syndrome
Death in infancy, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Gingival ove... ORPHA:1308
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... OMIM:618332
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... ORPHA:109
Chops Syndrome
Anteverted nares, High, narrow palate, Downturned corners of mouth, Long philtrum, Short nose OMIM:616368
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Death in... OMIM:210710
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate, Thin vermilion border,... ORPHA:1449
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip vermilion, Eruptio... OMIM:230740
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br... ORPHA:1465
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Nar... OMIM:303600
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Narrow m... ORPHA:261112
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Overhanging nasal tip, Prominent nasal bridge, Cleft soft palate, Hia... OMIM:615582
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow philtrum, Th... OMIM:601812
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Cleft upper lip, Wide nasal bridge, Gingival overgrowth, Microdontia... OMIM:213980
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... ORPHA:567
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia OMIM:270100
Trisomy 18
Choanal atresia, Esophageal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, Narrow m... ORPHA:3380
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Orofacial cleft, Abnormal lip ... ORPHA:171929
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... OMIM:268310
Lathosterolosis
Anteverted nares, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, High palate, Lon... OMIM:607330
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasi... ORPHA:2052
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Recurrent sinusitis, Long philt... OMIM:604173
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... ORPHA:280633
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip OMIM:222448
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Sho... ORPHA:77301
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Triangular mouth, Short nose OMIM:601675
Phocomelia, Schinzel Type
High, narrow palate, Tracheoesophageal fistula, Cleft palate, Short nose, Anal atresia ORPHA:2879
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mout... OMIM:301030
Fraser Syndrome 1
Micropenis, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia OMIM:219000
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Depressed nasal bridge, Anteverted nares, Choanal atresia, Pyloric... OMIM:602535
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Submucous cleft hard palate, High palate, Long philtrum... ORPHA:1340
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... OMIM:301044
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Depressed nasal bridge, Supernumerary tooth, Hypoplasia of teeth, Ante... OMIM:268400
Toriello-Carey Syndrome
Aganglionic megacolon, Cleft palate, Anteriorly placed anus, High palate, Short nose, Abnormal pa... ORPHA:3338
Diamond-Blackfan Anemia 1
Renal hypoplasia OMIM:105650
Osteoglophonic Dysplasia
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal conge... OMIM:166250
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Triangular mouth OMIM:617988
Chand Syndrome
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Wide nasal bridge, Short columella, Short philtrum, Short nose OMIM:613603
Blomstrand Lethal Chondrodysplasia
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Long philtrum, Short nose ORPHA:50945
Williams Syndrome
Death in early adulthood, Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinar... ORPHA:904
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Anteverted nares, Carious teeth, Thin vermilion border, Smooth ton... OMIM:601559
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... OMIM:619950
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... ORPHA:1519
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Renal hypoplasia OMIM:617157
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Abnormal palate ... ORPHA:2719
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Williams-Beuren Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho... OMIM:194050
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge OMIM:300863
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Bulbous nose, Narrow mouth, Short nose, Duodenal atresia OMIM:614114
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... OMIM:272460
Zttk Syndrome
Depressed nasal bridge, Abnormality of the dentition, Submucous cleft hard palate, Wide nasal bri... OMIM:617140
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, narrow palate, ... OMIM:615873
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
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border OMIM:616723
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, ... OMIM:154500
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose OMIM:618087
Microlissencephaly-Micromelia Syndrome
Short nose, Long philtrum ORPHA:50810
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... ORPHA:828
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares, Hypoplasia of teeth OMIM:234050
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Narrow mouth, Short ... ORPHA:1272
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Short nose ORPHA:319182
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Depressed nasal bridge, Underdeveloped nasal alae, Wid... ORPHA:79328
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... ORPHA:2729
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High... OMIM:603457
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Abnormality of the dentition, Cleft ... ORPHA:363611
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Downturned corners of mouth, Short nose, Anteverted nares, Abnormality of the dentition OMIM:612394
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Jacobsen Syndrome
Death in infancy, Anteverted nares, Intestinal malrotation, Pyloric stenosis, Wide nasal bridge, ... ORPHA:2308
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Malrotati... ORPHA:264450
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... OMIM:300990
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose, Thick vermilion border, Long philtrum OMIM:252160
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris OMIM:122880
Noonan Syndrome 3
High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose OMIM:609942
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Treacher Collins Syndrome 2
Choanal stenosis, Choanal atresia, Cleft palate OMIM:613717
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Underdeveloped nasal alae, Thin vermilion border, Narrow mouth, Short nos... OMIM:616007
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Abnormality of the dentition, Convex nasal ridge, Narrow mouth ORPHA:90154
Native American Myopathy
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Carious teeth, High palate, Long philtrum, Microdontia,... ORPHA:536467
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Ogden Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Depressed nasal bridge, Underdeveloped nas... OMIM:300855
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Gingival overgrowth, Narrow mo... ORPHA:508533
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral ... ORPHA:508488
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose OMIM:615851
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Simpson-Golabi-Behmel Syndrome
Death in infancy, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal bridge, Clef... ORPHA:373
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Death in infancy, Depressed nasal bridge, Protruding tongue, High, narr... OMIM:612289
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia OMIM:309580
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Esophagitis, Short nose, Median cleft lip and palate ORPHA:3342
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cleft palate, Shor... OMIM:601776
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ... ORPHA:457395
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... ORPHA:79345
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum OMIM:258480
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Underdeveloped nasal alae, Cleft palate, Oral synechia, Short nos... OMIM:263650
Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Cleft palate, Narrow mout... ORPHA:536471
Orofaciodigital Syndrome Xiv
Unilateral renal hypoplasia, Epispadias, Micropenis OMIM:615948
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bulbous nose, Short denta... OMIM:271510
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis OMIM:214800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Anteriorly placed anu... ORPHA:95699
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum OMIM:614185
Witteveen-Kolk Syndrome
Thin upper lip vermilion, Wide nose, Branchial fistula, Depressed nasal bridge, Prominent nasal b... OMIM:613406
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Pyloric stenosis, U-Shaped upper lip vermilion, Short nose OMIM:147791
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Short nose, Hypoplasia of the small intestine OMIM:200995
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Femoral-Facial Syndrome
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Long philtrum, Short nose, Smo... OMIM:134780
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Short nose, Anteverted nares ORPHA:3339
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Downturned corners of mouth, Glossoptosis, Macrogloss... ORPHA:444077
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:231050
Cadds
Short nose ORPHA:369942
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Bulbous nose, Short uvula, Wide ... OMIM:619475
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Broad nasal tip, Abnormality of the gingiva, An... ORPHA:798
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge OMIM:614225
Microphthalmia, Syndromic 6
Renal hypoplasia OMIM:607932
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Broad nasal tip ORPHA:293948
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
Cornelia De Lange Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Intestinal ... ORPHA:199
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper lip vermilion, Short nose OMIM:609945
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, High palate, Long philtrum, Promine... OMIM:620330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Short nose, Thick vermilion border ORPHA:505248
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerat... ORPHA:709
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Dow... OMIM:619522
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum ORPHA:522077
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate, Long philtrum, S... OMIM:271665
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... OMIM:269150
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Malabsorption, Wide nasal bridge, Gingival overgrowt... ORPHA:93
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Thin vermil... ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares, Intestinal malrotatio... OMIM:312870
Diamond-Blackfan Anemia
Depressed nasal bridge, Cleft soft palate, Cleft lip, Wide nasal bridge, High palate, Adenocarcin... ORPHA:124
Sponastrime Dysplasia
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... ORPHA:93357
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia OMIM:309800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... OMIM:619503
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Long philtrum, Short nose OMIM:618820
Pallister-Hall Syndrome
Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft lip, Depressed nas... ORPHA:672
Omodysplasia 1
Short nose, Depressed nasal bridge, Wide nasal bridge, Long philtrum OMIM:258315
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, D... OMIM:601803
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Viss Syndrome
Chronic gastritis, Depressed nasal bridge, Prominent nasal bridge, Duodenitis, Intestinal malrota... OMIM:619472
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Broad columella, Abnormal d... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261537
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Narrow mouth OMIM:606721
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261552
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Prominent palatine ridges, Broad nasal tip ORPHA:488437

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 Six2

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 Six2.

No publications found that use IMPC mice or data for Six2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Six2tm413923(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter