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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Broad nasal tip, Prominent palatine ridges 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
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, High palate, Short philtrum, Short nose ORPHA:217340
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Deep philtrum, Ever... ORPHA:261120
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Tooth agenesis, Open bite, Short columella, Microd... ORPHA:1248
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Sprengel Deformity
Cleft palate ORPHA:3181
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Gingival overgrowth, Median cleft palate, Gingival fibro... ORPHA:1832
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Non-Distal Duplication 10Q
Depressed nasal bridge, Everted lower lip vermilion, Convex nasal ridge, High palate, Short nose ORPHA:1695
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Parc Syndrome
Cleft palate OMIM:600331
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose, Cleft palate OMIM:612913
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Anencephaly 2
Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Anteverted nares, Cleft palate, Pierre-Robin sequence OMIM:184840
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of teeth, Cleft palate OMIM:600252
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Short nose ORPHA:2598
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia ORPHA:85284
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Open mouth, Tented upper l... OMIM:614744
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Narrow mouth, Death in infancy, Cleft palate ORPHA:93946
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Neonatal death, Cleft palate OMIM:615524
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares, Cleft palate OMIM:616784
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Bamforth-Lazarus Syndrome
Bilateral choanal atresia, Cleft palate OMIM:241850
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion b... OMIM:618506
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Short n... OMIM:615716
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Renal agenesis ORPHA:171839
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Short nose OMIM:190440
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Broad nasal tip, Cleft palate OMIM:300263
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... OMIM:300558
Coffin-Siris Syndrome 11
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate... OMIM:618779
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Renal hypoplasia OMIM:620439
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Everte... OMIM:616898
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Prominent nasal bridge, Thin upper lip vermilion, Smooth philtrum... OMIM:613544
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Underdeveloped nasal alae, Cleft palate OMIM:611867
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Death in infancy, High palate, Short nose OMIM:615042
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Median cleft upper lip, High palate, Cleft palate OMIM:300484
Diprosopus
Abnormality of the nose, Cleft palate, Non-midline cleft of the upper lip ORPHA:1681
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Anteverted nares, Abnormal upper lip morphology, Open mou... ORPHA:2849
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Cleft lip, Cleft palate OMIM:612370
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Open mouth, Thin upper lip vermilion, High pal... OMIM:613604
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death OMIM:612138
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Broad philtrum, Short nose ORPHA:502430
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, High palate, Thin vermilion border, Short philtrum, Short nose OMIM:617991
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... OMIM:613443
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Death in infancy, Median cleft upper lip, Short nose, Cleft... OMIM:241800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, High palate, Tented upper lip vermilion, Cleft palate OMIM:618388
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Stickler Syndrome Type 1
Long philtrum, Cleft palate, Short nose ORPHA:90653
Cleft Soft Palate
Cleft soft palate OMIM:119570
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Orofaciodigital Syndrome Xix
Wide nasal bridge, Bifid nasal tip, Carious teeth, Downturned corners of mouth, Underdeveloped na... OMIM:620107
Zechi-Ceide Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Oligodontia, Cleft palate, Wide nose OMIM:612916
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, S... ORPHA:1791
Pai Syndrome
Depressed nasal bridge, Bifid uvula, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Abnormal palate morphology, Narrow mouth, Short nose ORPHA:1495
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux OMIM:619955
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wide mouth, Short nose ORPHA:2429
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, High pala... OMIM:614069
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... OMIM:601224
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Treacher Collins Syndrome 4
Choanal stenosis, Cleft palate OMIM:618939
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... ORPHA:1716
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Cleft palate, Short nose OMIM:613885
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Short nose ORPHA:969
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Bifid nose, Cleft palate, Hyposmia OMIM:614838
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Open mouth, Short nose OMIM:613670
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Narrow mouth, Open mouth, Microdontia, Delayed eruption of permanent teeth, Sho... OMIM:619356
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Everted lower lip vermilion, Thin vermilion border, ... ORPHA:1702
Cach Syndrome
Renal hypoplasia ORPHA:135
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares... OMIM:618529
Isolated Atp Synthase Deficiency
Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose OMIM:618774
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, S... ORPHA:166272
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Pierpont Syndrome
Broad nasal tip, Widely spaced teeth, Prominent median palatal raphe, Smooth philtrum, Everted lo... OMIM:602342
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Narrow mout... ORPHA:1529
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Braddock-Carey Syndrome 2
Bulbous nose, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Median cleft upper lip, Absent ... OMIM:142946
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Short nose ORPHA:2370
Frontonasal Dysplasia 3
Wide nasal bridge, Underdeveloped nasal alae, Cleft palate, Tessier cleft OMIM:613456
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux OMIM:609053
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Narrow mouth, Cleft palate, Short nose OMIM:614078
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Narrow mouth, Broad philtrum, Cleft palate... ORPHA:398156
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, O... OMIM:615866
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Thin upper lip ... ORPHA:401935
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... ORPHA:1790
Split hand/foot malformation 1 (SHFM1)
Median cleft upper lip, Cleft palate DECIPHER:46
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Bilateral cleft palate, Abnormal nasal morphology, Non-midline cl... ORPHA:1104
Baker-Gordon Syndrome
Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose OMIM:618218
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Cleft palate, Short nose ORPHA:2145
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion... OMIM:614105
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Miller-Dieker Syndrome
Anteverted nares, Abnormal upper lip morphology, Short nose ORPHA:531
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Bifid uvula, Cleft upper lip, Bulbous nose, Anteverted nares, Cleft palate OMIM:300958
Fetal Alcohol Syndrome
Anteverted nares, Microdontia, Thin upper lip vermilion, Smooth philtrum, Short nose, Non-midline... ORPHA:1915
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Cleft palate, Pierre-... OMIM:604841
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Open bite, Anteverted n... ORPHA:1327
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft OMIM:601349
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Long philtrum, Tooth agenesis, Non-midline cleft of... ORPHA:1252
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Short nose, Anal atr... ORPHA:1699
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ... OMIM:616331
Peho-Like Syndrome
Open mouth, Short nose OMIM:617507
Fetal Trimethadione Syndrome
Depressed nasal bridge, High palate, Short nose ORPHA:1913
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Oculomaxillofacial Dysostosis
Wide nasal bridge, Tessier cleft, Abnormality of the dentition, Abnormality of the nose, Underdev... ORPHA:1794
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Periventricular Nodular Heterotopia 7
Dental crowding, Anteverted nares, Narrow mouth, Short nose, Cleft palate, Pierre-Robin sequence OMIM:617201
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten... ORPHA:280200
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Short nose ORPHA:1389
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Cleft palate OMIM:141400
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Narrow mouth, High palate, Short nose OMIM:615539
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short nose OMIM:612563
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Narrow mouth, Median cleft upper lip, Short nose, Cleft palate ORPHA:1234
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections OMIM:609029
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Anteverted nares, Macroglossia, Short nose ORPHA:1914
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Thin vermilion borde... OMIM:610015
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Short nose,... ORPHA:163649
Fetal Hydantoin Syndrome
Depressed nasal ridge, Everted lower lip vermilion, Short nose, Wide mouth, Cleft palate ORPHA:1912
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Bulbous nose, Short columella, Pr... ORPHA:364577
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Long nasal bridge, Narrow mouth, Cleft palate OMIM:162100
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:619854
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Anteverted nares, Anterior open-bite malocclusion, Thin upper lip... OMIM:617877
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Isotretinoin Syndrome
Depressed nasal bridge, Cleft palate ORPHA:2305
Faciocardiorenal Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum, Hypodontia, Cleft pa... ORPHA:1973
Distal Deletion 9P
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Short nose, Cleft palate ORPHA:1642
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Bulb... ORPHA:369891
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Long philtrum, Wide mouth, Narrow mouth, Short philtrum, Hypodontia, Thick ver... OMIM:620250
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Broad nasal tip, Cleft upper lip, Narrow mouth, Bifid nose, Cleft palate OMIM:239800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Tented ... OMIM:619383
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Cleft palate OMIM:601355
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte... OMIM:614701
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma OMIM:612918
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Broad philtrum, Short nose OMIM:618577
Fetal Gaucher Disease
Depressed nasal bridge, Anteverted nares, Death in infancy, Neonatal death, Stillbirth, High palate ORPHA:85212
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl... ORPHA:894
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Rauch-Steindl Syndrome
Miscarriage, Bilateral renal hypoplasia, Hyperechogenic kidneys OMIM:619695
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614749
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Open mouth, Short nose OMIM:300143
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m... OMIM:617865
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Downturned corners of mouth, Long philtrum, Bulbous nose, Deep phil... OMIM:618571
Orofaciodigital Syndrome Ix
Bifid nasal tip, Abnormality of the dentition, Broad nasal tip, Median cleft upper lip, High pala... OMIM:258865
Femoral-Facial Syndrome
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Short nose, Cleft palate ORPHA:1988
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Tessier cleft, Cleft upper lip, Clef... OMIM:607597
5Q14.3 Microdeletion Syndrome
Short philtrum, Anteverted nares, Open mouth, Short nose ORPHA:228384
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth, Short nose OMIM:615419
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia ORPHA:96170
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Long philtrum, Anteverted nares, Short nose, Thin vermilion bor... ORPHA:1358
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Broad nasal tip, Downturned corners of mouth, Anteriorly placed anus, Cleft up... OMIM:239300
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose ORPHA:210548
Orofaciodigital Syndrome X
Depressed nasal bridge, Cleft palate OMIM:165590
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ... ORPHA:261144
Tetrasomy 18P
Thin vermilion border, Narrow mouth, Long philtrum, Short nose ORPHA:3307
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Smooth philtrum, Convex nasa... ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Long philtrum, Bulbous nose, Oligodon... OMIM:617061
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Anteverted nares, Narrow mouth, Thin vermilion bord... ORPHA:1895
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Pelvic kidney, Microphallus OMIM:603467
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal tip, Cleft soft palate, Prominen... ORPHA:293725
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Anteverted nares, Narrow mouth, Short nose, Cleft palate ORPHA:83
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard ... OMIM:617412
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Talon cusp, Downturned corners of mouth, Short nose, Short ... ORPHA:2409
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Cleft palate, Pierre-Robin sequence OMIM:602196
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... ORPHA:2315
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Intestinal malrotation, Prominent nose,... OMIM:618316
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Smooth philtrum, Thin vermilion border, High palate, Short nose OMIM:601853
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Natal tooth, Dental crowding, Long philtrum, Anteverte... OMIM:145420
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614207
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Dental crowding, Choanal stenosis, High palate, Short nose OMIM:101600
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Thick low... ORPHA:560
Aase-Smith Syndrome I
Death in infancy, Open mouth, Cleft palate OMIM:147800
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Short nose ORPHA:99688
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Cleft palate, Short nose ORPHA:79113
Prolidase Deficiency
Concave nasal ridge, Depressed nasal bridge, High palate, Short nose OMIM:170100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, High palate, Short nose OMIM:218000
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Holoprosencephaly 3
Bifid uvula, Depressed nasal bridge, Cleft lip, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Natal tooth, Gingival overgrowth, Narrow mouth, Protrudi... OMIM:259775
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Anteverted nares, Exaggerated cupid's bow, Thin upper li... ORPHA:261236
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose OMIM:620292
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... ORPHA:322
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Schilbach-Rott Syndrome
Bifid uvula, Prominent nose, Narrow mouth, Submucous cleft hard palate, Long nose OMIM:164220
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Cleft upper lip, Hyposmia, Tooth agenesis, Cleft palate OMIM:147950
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Short nose, High palate,... OMIM:206920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Macroglossia, Short nose OMIM:242860
Pfeiffer Syndrome Type 1
Depressed nasal bridge, High palate, Short nose ORPHA:93258
Malan Syndrome
Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Everted lower lip vermilion, Short... OMIM:614753
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Open mouth, Short philtrum, Short nose OMIM:618437
Lymphatic Malformation 5
Cleft palate OMIM:153200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis OMIM:617913
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Cleft upper lip, Anteverted nares, Open mouth, Tented ... ORPHA:819
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Long philtrum, Bulbous nose, Thin vermilion border, Wide mouth, Short nose ORPHA:485405
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Choanal stenosis, Pierre-Robin sequence OMIM:620183
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Open ... ORPHA:391372
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Abnormality of the sense of smell, Submucous cleft hard palate, Hypodontia, ... ORPHA:3201
Oculodentodigital Dysplasia
Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft upper lip, Narrow nose,... OMIM:164200
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Anteverted nares, Deep philtrum, Esophageal atresia, Short nose, Cleft palate OMIM:610536
Pseudotrisomy 13 Syndrome
Micropenis, Renal hypoplasia, Renal agenesis OMIM:264480
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tongue, Short nose ORPHA:561
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Intestinal malrotation, High palate, Anal atresia, Cleft... ORPHA:93259
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Deep philtrum, High palate,... ORPHA:314655
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Cleft palate OMIM:614880
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cleft upper lip, Hyposmia, Cleft palate OMIM:244200
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Celiac disease, Short ... ORPHA:284169
Pterygium Colli, Isolated
Short nose OMIM:177990
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Prominent nasal bridge, Short nose, Bulbous nose OMIM:613870
3C Syndrome
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Intestinal malrotation, Death in ... ORPHA:7
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v... OMIM:615803
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,... OMIM:617602
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Microcephaly-Capillary Malformation Syndrome
Wide nose, Cleft palate, Short nose OMIM:614261
Baraitser-Winter Syndrome 1
Wide nasal bridge, Long philtrum, Cleft upper lip, Anteverted nares, Thin upper lip vermilion, Or... OMIM:243310
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Death in early adulthood, Narrow mouth, Narrow nasal ridge, High palate, Hypopla... OMIM:608612
Al-Raqad Syndrome
Thin upper lip vermilion, Narrow mouth, Short nose OMIM:616459
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Protruding tongue, Open mouth, Alveolar process hypopl... OMIM:200990
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Achondrogenesis
Anteverted nares, Long philtrum, Short nose ORPHA:932
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dental crowding, Underdeveloped nasal... OMIM:615485
Schneckenbecken Dysplasia
Stillbirth, Cleft palate, Short nose OMIM:269250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Long philtrum,... OMIM:615398
Macrocephaly/Autism Syndrome
Depressed nasal bridge, High palate, Long philtrum, Short nose OMIM:605309
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Agenesis of pe... ORPHA:251028
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth philtrum, Short nose OMIM:618828
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Anteverted nares, Death in childhood, Death in infancy, Deep philtrum, Sh... OMIM:613320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Death in childhood, Short nose OMIM:618961
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Duodenal stenosis ORPHA:2547
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Unilateral cleft lip, Anteverted nares, Short nose, Cleft palate OMIM:616897
Cerebrooculonasal Syndrome
Downturned corners of mouth, Proboscis, Long philtrum, Short nose, Anteverted nares, Prominent na... OMIM:605627
Trisomy 8Q
Wide nasal bridge, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilio... ORPHA:1752
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Aarskog-Scott Syndrome
Wide nasal bridge, Cleft upper lip, Anteverted nares, Hypodontia, Short nose, Broad philtrum, Cur... OMIM:305400
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Cleft hard palate ORPHA:166016
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma ORPHA:2874
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Long philtrum, Prominent nasal bridge, Gingival overgrowth, Protruding tongue,... OMIM:619179
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Anteverted nares, Smooth philtrum, Thin vermilion border, Short nose OMIM:616420
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Intestinal malrotation, High palate, Anal atresia, Cleft... ORPHA:93260
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Unilateral cleft lip, Depressed nasal tip, Midline d... OMIM:610828
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Prominent nasal bridge, Short philtrum, Orofacial ... ORPHA:65286
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose OMIM:302950
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Thin upper lip vermilion, Deep philtrum, High palate, Short nose ORPHA:329178
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Downturned corners of mouth, Thin upper lip vermilion, Smooth philtrum, L... OMIM:618590
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Natal tooth, Volvulus, Short nose OMIM:617802
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wide nose ORPHA:1394
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Tented upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, High ... OMIM:619833
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux OMIM:620654
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, High palate, Short nose OMIM:219200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Death in infancy, Short philtrum, Wide mouth, Short nose ORPHA:163966
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Open mouth, Tented upper lip v... OMIM:618430
Van Maldergem Syndrome 2
Micropenis, Renal hypoplasia, Hypospadias OMIM:615546
Achondrogenesis Type 1B
Anteverted nares, Long philtrum, Short nose ORPHA:93298
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Neonatal death OMIM:269860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Glossoptosis, Underdeveloped nasal alae, Short nose ORPHA:2031
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Narrow mouth, Oligodontia, Thin upp... ORPHA:391408
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Narrow mouth, Thin upper lip vermilion, Smooth philtrum... ORPHA:357001
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Death in ch... OMIM:619005
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Short nose ORPHA:2143
Achondrogenesis Type 1A
Anteverted nares, Long philtrum, Short nose ORPHA:93299
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Ulnar-Mammary Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:3138
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Death in infancy OMIM:619297
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate OMIM:617337
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia OMIM:614083
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atre... ORPHA:989
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Abnormality of the dentition, Prominent nose, Narrow nasal ridge, Thick v... ORPHA:363528
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ... OMIM:616894
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Short nose OMIM:300887
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Meckel diverticulum, Short nose ORPHA:163961
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Short nose OMIM:611936
Fibrochondrogenesis 1
Depressed nasal bridge, Stillbirth, Long philtrum, Anteverted nares, Narrow mouth, Short nose, Cl... OMIM:228520
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Whistling appearance, Dental crowding, Underdeveloped nasal alae, Pursed lips,... OMIM:193700
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Macroglossia, Short nose OMIM:613038
Smith-Kingsmore Syndrome
Depressed nasal bridge, Long philtrum, Open mouth, Thin upper lip vermilion, Smooth philtrum, Wid... OMIM:616638
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Anteverted nares, Sh... OMIM:217980
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Long philtrum, Short nose ORPHA:93328
Frontofacionasal Dysplasia
Bifid uvula, Underdeveloped nasal alae, Cleft upper lip, Midline defect of the nose, Orofacial cl... OMIM:229400
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Open... ORPHA:950
C Syndrome
Wide nasal bridge, Anteverted nares, Thick anterior alveolar ridges, High palate, Wide mouth, Sho... OMIM:211750
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Hypodontia, Convex nasal ridge, Short phi... ORPHA:3258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose OMIM:616910
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Micro Syndrome
Wide nasal bridge, Anteverted nares, High palate, Short philtrum, Short nose ORPHA:2510
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Selective tooth agenesis, Narrow mouth, Multiple impacted teeth, Short nose, C... OMIM:311300
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Downturned corners of mouth, Widely spaced teeth, Bulbous nose, Prominent ... OMIM:156200
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Short nose ORPHA:2983
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Long philtrum, Prominent nasal bridge, Smooth philtrum, High ... OMIM:300749
Baller-Gerold Syndrome
Anteriorly placed anus, Narrow nasal bridge, Prominent nasal bridge, Narrow mouth, Anal atresia, ... ORPHA:1225
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Anteverted nares, High palate, Short nose ORPHA:3309
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Short nose OMIM:608776
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Anteverte... OMIM:608156
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Long philtrum, Anteverted nares, Open mouth, Anal atresia,... OMIM:614080
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Microdontia, Short nose, Cleft palate ORPHA:1812
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Anteverted nares, Open mouth, Absent nasal bridge, Orofacial cleft, Long nose, Shor... ORPHA:261211
Desmosterolosis
Bifid uvula, Depressed nasal bridge, Abnormality of the nose, Intestinal malrotation, Narrow mout... ORPHA:35107
Peho Syndrome
Tented upper lip vermilion, Open mouth, Short nose OMIM:260565
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Cleft soft palate, Submucous cleft soft palate, Short nose ORPHA:2282
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Shor... OMIM:616430
Autosomal Recessive Faciodigitogenital Syndrome
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Deep philtrum, Everted lower ... ORPHA:1974
Boomerang Dysplasia
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death OMIM:112310
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Broad nasal tip, Carious teeth, Downturned corners of mouth, Prominent nose, Antever... ORPHA:177907
Rhombencephalosynapsis
Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... ORPHA:59315
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormality of the dentition, Narrow mouth, Oligodontia... ORPHA:363417
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short nose OMIM:608022
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Long philtrum, Short nose ORPHA:93329
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Alveolar ridge overgrowth, Short nose, Gingival fibro... OMIM:602398
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, Carious teeth, Long philtrum, Anteverted nares, Smooth philtrum, High palate, Pr... ORPHA:357074
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion border ORPHA:1185
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Short nose, Wide nose ORPHA:2831
46,Xy Sex Reversal 4
Depressed nasal ridge, Long philtrum, Prominent nose, Anteverted nares, High palate, Anal atresia... OMIM:154230
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pelvic kidney ORPHA:508498
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Death in childhood, Convex nasal ridge, High palate, Wide mouth, Short nose OMIM:300661
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, High palate, Short nose, Py... ORPHA:457279
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Short nose, Downturned corners of mouth, Hypodontia, Orofacial cleft, S... ORPHA:1507
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Choanal atresia, Depressed nasal ridge, Abnormal oral mucosa mo... ORPHA:2753
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Abnormality of the nose, Underdeveloped nasal alae, Broad c... ORPHA:2710
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Short nose OMIM:614222
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal palate morph... ORPHA:1786
Distal Deletion 10Q
Wide nasal bridge, Prominent nose, Prominent nasal bridge, Thin upper lip vermilion, Smooth philt... ORPHA:96148
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Underdeveloped nasal alae, Anteverted nares, Solitary median ma... OMIM:613026
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Underdeveloped nasal alae, Long philtrum, Bulbous... OMIM:608670
Meier-Gorlin Syndrome 6
Depressed nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Anteverted nares, Thick... OMIM:616835
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, High palate, Short nose OMIM:618005
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, High palate, Anteverted nares, Short nose OMIM:617822
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Anosmia, Tooth malposition, Failure of eruption of permanent teeth, Single naris, Hy... ORPHA:2250
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Prominent nasal bridge, Thin vermilion border, High palate, Short nose ORPHA:251071
Adenylosuccinase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Wide mouth, Short nose OMIM:103050
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Delayed eruption of teeth, Thick upper lip vermilion, Anteverted nares, Thin u... OMIM:247200
Ruvalcaba Syndrome