Gene: Six2 MGI:102778

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.

Human diseases associated with Six2 (1 diseases)
Human diseases predicted to be associated with Six2 (713 diseases)

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		Broad nasal tip, Depressed nasal bridge, Prominent palatine ridges	ORPHA:488437

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

Disease	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, Nephrotic syndrome, Focal segmental glomeruloscleros...	OMIM:616002
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3	Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl...	OMIM:618270
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares	ORPHA:2015
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort...	OMIM:611555
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst...	OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins...	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 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
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Congenital Anomalies Of Kidney And Urinary Tract 1	Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve...	OMIM:610805
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft lip, Tooth agenesis, Cleft palate	ORPHA:1074
Pierre Robin Syndrome	Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:261800
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Short nose, High palate	OMIM:300577
Megaepiphyseal Dwarfism	Cleft palate	OMIM:249230
17Q21.31 Microduplication Syndrome	High palate, Abnormality of the dentition, Short nose, Anteverted nares, Short philtrum	ORPHA:217340
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
Nephronophthisis 13	Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614377
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Cleft Palate-Lateral Synechia Syndrome	Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate	ORPHA:2016
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Pyknoachondrogenesis	Stillbirth	OMIM:265880
14Q11.2 Microdeletion Syndrome	High palate, Short nose, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Long philtrum,...	ORPHA:261120
Pierre Robin Sequence With Facial And Digital Anomalies	Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:311895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge	ORPHA:1355
Sprengel Deformity	Cleft palate	ORPHA:3181
Maxillonasal Dysplasia	Tooth agenesis, Short nose, Microdontia, Short columella, Cleft palate, Depressed nasal ridge, De...	ORPHA:1248
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Burn-Mckeown Syndrome	Abnormal palate morphology, Prominent nasal bridge, Short nose, Bilateral choanal atresia, Wide n...	ORPHA:1200
Cleft Lip With Or Without Cleft Palate	Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S...	ORPHA:1991
Non-Distal Duplication 10Q	High palate, Short nose, Everted lower lip vermilion, Convex nasal ridge, Depressed nasal bridge	ORPHA:1695
Parc Syndrome	Cleft palate	OMIM:600331
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia	OMIM:236500
Lethal Osteosclerotic Bone Dysplasia	Median cleft lip and palate, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgr...	ORPHA:1832
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Fetal Valproate Spectrum Disorder	Short nose, Narrow mouth, Downturned corners of mouth, Long philtrum, Thin vermilion border, Depr...	ORPHA:1906
Teebi Hypertelorism Syndrome 2	Broad nasal tip, High palate, Short nose, Microdontia, Cleft palate, Everted lower lip vermilion,...	OMIM:619736
Orofaciodigital Syndrome Xi	Bulbous nose, Wide nasal bridge, Cleft palate	OMIM:612913
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Clark-Baraitser Syndrome	High palate, Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Smooth phi...	OMIM:617752
Van Der Woude Syndrome 1	Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit	OMIM:119300
Renal Coloboma Syndrome	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ...	ORPHA:1475
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder	OMIM:601389
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Thin upper lip vermilion	ORPHA:46
17P13.3 Microduplication Syndrome	Narrow mouth, Short nose, High palate, Wide nose	ORPHA:217385
Anencephaly 2	Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip, Bifid nose	OMIM:619452
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Ring Chromosome 8 Syndrome	Short nose, Abnormal palate morphology, Anteverted nares	ORPHA:1450
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Renal cyst, Renal insufficiency, Death in infancy, Neonatal death, Renal dysp...	OMIM:614922
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Long philtrum, High palate	ORPHA:2598
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Prominent nasal bridge, Cleft palate	ORPHA:85273
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Death in childhood, Aminoaciduria, Lacticaciduria, 3-Methylglutaconic aciduria, Renal hypoplasia	OMIM:604273
Lowry-Maclean Syndrome	Delayed eruption of teeth, Convex nasal ridge, Cleft palate	OMIM:600252
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu...	OMIM:174000
Bresek Syndrome	Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Vesicoureteral reflux, Renal hypoplasia	ORPHA:85284
Disorganization, Mouse, Homolog Of	Cleft upper lip, Cleft palate	OMIM:223200
Joubert Syndrome 26	Cleft palate, Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares	OMIM:616784
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares	OMIM:184840
Renal And Mullerian Duct Hypoplasia	Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia	OMIM:266810
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate	OMIM:137215
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Bamforth-Lazarus Syndrome	Bilateral choanal atresia, Cleft palate	OMIM:241850
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Delayed eruption of permanent teeth, Anteverted nares, Thick vermilion border, Exagge...	OMIM:618506
Alagille Syndrome 2	Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia	OMIM:610205
Facial Paresis, Hereditary Congenital, 3	High palate, Open mouth, Short nose, Anteverted nares, Tented upper lip vermilion, Downturned cor...	OMIM:614744
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Cleft palate, Narrow mouth, Wide nasal bridge, Bulbous nose	ORPHA:93946
Maxillonasal Dysplasia, Binder Type	Short nose, Dental malocclusion, Depressed nasal bridge, Short columella	OMIM:155050
Microphthalmia, Syndromic 12	Broad nasal tip, Neonatal death, Cleft palate, Wide nasal bridge, Intestinal malrotation	OMIM:615524
9q subtelomeric deletion syndrome	Short nose, Protruding tongue, Anteverted nares	DECIPHER:52
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Short nose, Cleft palate, Tented upper lip vermilion, Wide nasal bridge, Thin up...	OMIM:615716
Diabetes Insipidus, Neurohypophyseal	Short nose, Long philtrum, Wide nose	OMIM:125700
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Broad nasal tip, Cleft lip, Cleft palate	OMIM:300263
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti...	OMIM:617610
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Hypoplasia of penis	ORPHA:2256
Trigonocephaly 1	Short nose, High, narrow palate, Long philtrum, Wide nasal bridge, Meckel diverticulum	OMIM:190440
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Micropenis, Renal hypoplasia, Hypospadias	ORPHA:171839
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia, Cleft lip, Cleft palate	OMIM:612370
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Everted lower lip vermilion, Tented upper lip vermilion, Cleft palate, Recurrent viral...	OMIM:616898
Diprosopus	Non-midline cleft lip, Abnormality of the nose, Cleft palate	ORPHA:1681
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia	OMIM:617926
Tetrasomy 12P	Abnormal soft palate morphology, Anal atresia, Short nose, Anteverted nares, Everted lower lip ve...	ORPHA:884
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Cenani-Lenz Syndactyly Syndrome	Ectopic kidney, Renal agenesis, Renal hypoplasia	OMIM:212780
Even-Plus Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia	OMIM:616854
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate...	ORPHA:1135
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Facial Clefting, Oblique, 1	Cleft upper lip, Cleft palate	OMIM:600251
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Long philtrum, Smooth philtrum, Depressed nasal bridge, Thin upper lip vermilion	ORPHA:438178
Intellectual Developmental Disorder, X-Linked 30	High palate, Open mouth, Prominent nasal bridge, Short nose, Anteverted nares, Thick upper lip ve...	OMIM:300558
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, High palate, Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum,...	OMIM:613544
Oligomeganephronia	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati...	ORPHA:2260
Catifa Syndrome	Tooth malposition, Cleft lip, Cleft palate, Anteverted nares, Long philtrum, Delayed eruption of ...	OMIM:618761
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Thin upper lip vermilion, Smooth philtrum, Cleft palate	OMIM:611867
Coffin-Siris Syndrome 11	High palate, Esophageal atresia, Bifid uvula, Downturned corners of mouth, Bulbous nose, Cleft so...	OMIM:618779
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Open mouth, Short nose, Deep philtrum, Anteverted nares, Everted lower lip vermi...	OMIM:137550
Van Der Woude Syndrome 2	Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip	OMIM:606713
Adducted Thumbs Syndrome	High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate	OMIM:201550
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Thin upper lip vermilion, Death in infancy, High palate	OMIM:615042
Bamforth-Lazarus Syndrome	Choanal atresia, Cleft palate	ORPHA:1226
Perlman Syndrome	Open mouth, Short nose, High, narrow palate, Anteverted nares, Smooth philtrum, Wide nasal bridge...	ORPHA:2849
Orofaciodigital Syndrome Viii	Broad nasal tip, High palate, Bifid nasal tip, Cleft palate, Median cleft lip	OMIM:300484
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	High palate, Open mouth, Short nose, Pierre-Robin sequence, Anteverted nares, Glossoptosis, Wide ...	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
Pallister-Hall-Like Syndrome	Short nose, Death in infancy, Cleft palate, Microglossia, Median cleft lip, Depressed nasal bridge	OMIM:241800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614376
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia	OMIM:608572
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Anteverted nares, Downturned corners of mouth, Short philtrum, Lobulated tongue, Depr...	OMIM:613443
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death, Anteverted nares	OMIM:612138
Chung-Jansen Syndrome	High palate, Short nose, Anteverted nares, Long philtrum, Thin vermilion border, Short philtrum	OMIM:617991
Stickler Syndrome Type 1	Short nose, Long philtrum, Cleft palate	ORPHA:90653
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Cleft Lip/Palate	Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef...	ORPHA:199306
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip...	ORPHA:888
Thomas Syndrome	Cleft upper lip, Cleft palate	ORPHA:3316
Renal Hypoplasia, Bilateral	Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,...	ORPHA:97362
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, High palate, Wide nasal bridge, Cleft palate	OMIM:618388
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Renal hypoplasia	OMIM:617914
Split-Foot Deformity With Mandibulofacial Dysostosis	Cleft palate	OMIM:183700
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Hyposmia, Cleft palate, Anosmia, Bifid nose	OMIM:614838
Pai Syndrome	Midline defect of the nose, Bifid uvula, Nasal polyposis, Cleft palate, Abnormal oral frenulum mo...	ORPHA:1993
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Narrow mouth, Short nose, Death in infancy, Abnormal palate morphology	ORPHA:1495
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Renal hypoplasia	ORPHA:464288
Papillorenal Syndrome	Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C...	OMIM:120330
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Everted lower lip vermilion, Short philtrum, Thin upper lip vermilion, Wide mouth	ORPHA:2429
Stickler Syndrome, Type Ii	Bifid uvula, Cleft palate, High, narrow palate, Anteverted nares, Pierre-Robin sequence, Depresse...	OMIM:604841
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate	OMIM:120433
Potocki-Shaffer Syndrome	Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Wide nasal bridge, Short phil...	OMIM:601224
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Zechi-Ceide Syndrome	Oligodontia, Underdeveloped nasal alae, Cleft palate, Wide nose, Wide nasal bridge, Cleft upper lip	OMIM:612916
Meckel Syndrome, Type 8	Cleft palate, Short nose, Cleft upper lip, Depressed nasal ridge	OMIM:613885
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Depresse...	OMIM:614069
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Dworschak-Punetha Neurodevelopmental Syndrome	Unilateral renal hypoplasia, Vesicoureteral reflux	OMIM:619955
Distal Duplication 18Q	High palate, Prominent nasal bridge, Short nose, Choanal atresia, Abnormality of dental morpholog...	ORPHA:1716
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia	OMIM:613735
Acromicric Dysplasia	Short nose, Anteverted nares, Narrow mouth, Long philtrum, Bulbous nose, Thick lower lip vermilion	ORPHA:969
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft lip, Cleft palate	ORPHA:1072
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	Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M...	OMIM:617641
Non-Distal Duplication 13Q	High palate, Abnormality of the dentition, Short nose, Everted lower lip vermilion, Long philtrum...	ORPHA:1702
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Open mouth, Short nose, Delayed eruption of permanent teeth, Microdontia, Anteverted nares, Narro...	OMIM:619356
Orofaciodigital Syndrome Xix	High palate, Bifid nasal tip, Underdeveloped nasal alae, Tongue nodules, Accessory oral frenulum,...	OMIM:620107
Meckel Syndrome 12	Bilateral renal agenesis, Renal hypoplasia, Ureteral hypoplasia	OMIM:616258
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia	OMIM:616817
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Renal hypoplasia, Hypoplasia of penis	ORPHA:85321
Cach Syndrome	Renal hypoplasia	ORPHA:135
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia	OMIM:618494
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial...	ORPHA:93109
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip, Open mouth	OMIM:613670
Birk-Landau-Perez Syndrome	Tubulointerstitial nephritis, Renal insufficiency, Stage 3 chronic kidney disease, Hyperechogenic...	OMIM:617595
Odontochondrodysplasia	Short nose, Death in infancy, Delayed eruption of teeth, Depressed nasal bridge, Dentinogenesis i...	ORPHA:166272
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Short nose, Narrow mouth, Depressed nasal ridge, Depressed...	ORPHA:1529
Frontofacionasal Dysplasia	Bifid nasal tip, Short nose, Choanal atresia, Cleft palate, Non-midline cleft lip, Depressed nasa...	ORPHA:1791
Pierpont Syndrome	Broad nasal tip, Short nose, Widely spaced teeth, Broad philtrum, Wide nose, Prominent median pal...	OMIM:602342
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Short nose, Thin vermilion border	ORPHA:2370
Cebalid Syndrome	High palate, Short nose, Anteverted nares, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Wide mouth, Cleft palate	OMIM:619981
Oculoauriculofrontonasal Syndrome	Cleft lip, Bifid nasal tip, Underdeveloped nasal alae, Broad philtrum, Cleft palate, Wide nose, N...	ORPHA:398156
Matthew-Wood Syndrome	Horseshoe kidney, Vesicoureteral reflux, Renal hypoplasia	ORPHA:2470
Fanconi Anemia, Complementation Group I	Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia	OMIM:609053
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Short nose, Anteverted nares, Tented upper lip vermilion, Long philtrum, Bulbous nos...	OMIM:614105
Chondrodysplasia With Joint Dislocations, Gpapp Type	Narrow mouth, Short nose, Wide nasal bridge, Cleft palate	OMIM:614078
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Renal Cysts And Diabetes Syndrome	Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta...	OMIM:137920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Death in infancy, Cystic renal dysplasia, Neonatal death	OMIM:613730
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Craniosynostosis, Herrmann-Opitz Type	Short nose, Convex nasal ridge, Cleft palate	ORPHA:2145
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Parietal Foramina 1	Cleft upper lip, Cleft palate	OMIM:168500
Baker-Gordon Syndrome	Short nose, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip	OMIM:618218
Robinow Syndrome, Autosomal Recessive 2	Broad nasal tip, Abnormality of the dentition, Short nose, Anteverted nares, Long philtrum, Absen...	OMIM:618529
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, High palate, Open mouth, Short nose, Underdeveloped nasal alae, Anteverted nares, Ever...	OMIM:615866
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Bifid uvula, Short nose, Death in infancy, Cleft palate, Anteve...	ORPHA:1790
Fetal Alcohol Syndrome	Short nose, Microdontia, Cleft palate, Anteverted nares, Non-midline cleft lip, Smooth philtrum, ...	ORPHA:1915
Miller-Dieker Syndrome	Short nose, Abnormal upper lip morphology, Anteverted nares	ORPHA:531
14Q24.1Q24.3 Microdeletion Syndrome	Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum, Wide nasal bridge, Intestinal...	ORPHA:401935
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea...	ORPHA:84081
12Q14 Microdeletion Syndrome	Horseshoe kidney, Renal hypoplasia, Ectopic kidney	ORPHA:94063
Camptodactyly Syndrome, Guadalajara Type 1	Abnormality of dental eruption, High palate, Short nose, Anteverted nares, Narrow mouth, Downturn...	ORPHA:1327
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Microphthalmia, Syndromic 8	Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft, Cleft palate	OMIM:601349
Trisomy 12P	Anal atresia, Short nose, Cleft palate, Everted lower lip vermilion, Downturned corners of mouth,...	ORPHA:1699
Peho-Like Syndrome	Open mouth, Short nose	OMIM:617507
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Long philtrum, Thick vermilion border	ORPHA:833
Orofaciodigital Syndrome Type 5	Abnormality of the philtrum, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, High, n...	ORPHA:2919
Phosphoribosylaminoimidazole Carboxylase Deficiency	Esophageal atresia, Short nose, Bilateral choanal atresia, Choanal atresia, Anteverted nares, Neo...	OMIM:619859
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Long philtrum, Abnormal palate morphology	ORPHA:1389
Duplication Of Urethra	Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont...	ORPHA:237
Fanconi Anemia, Complementation Group O	Hydronephrosis, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Death in infancy, Neonat...	OMIM:613390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia	OMIM:618914
Fetal Trimethadione Syndrome	Short nose, High palate, Depressed nasal bridge	ORPHA:1913
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Underdeveloped nasal alae, Cleft palate, Wide nose, Long philtrum, Non-midline cl...	ORPHA:1252
Periventricular Nodular Heterotopia 7	Short nose, Cleft palate, Anteverted nares, Narrow mouth, Dental crowding, Pierre-Robin sequence	OMIM:617201
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Renal hypoplasia, Renal cyst, Hypospadias	OMIM:614091
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Median cleft lip	ORPHA:1234
Robinow Syndrome, Autosomal Dominant 2	Oligodontia, Abnormality of the dentition, Short nose, Cleft palate, Anteverted nares, Dental cro...	OMIM:616331
Vitamin K Antagonist Embryofetopathy	Macroglossia, Short nose, Choanal atresia, Anteverted nares, Depressed nasal bridge	ORPHA:1914
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Short mandibular rami, Orofacial cleft, Cleft palate	OMIM:141400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia	OMIM:619758
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Cleft palate	OMIM:601355
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion, Thick lower l...	OMIM:619854
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Short nose, Wide nasal bridge	OMIM:612563
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	High palate, Short nose, Dental crowding, Narrow mouth, Long philtrum	OMIM:615539
Fetal Hydantoin Syndrome	Short nose, Cleft palate, Everted lower lip vermilion, Depressed nasal ridge, Wide mouth	ORPHA:1912
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligodontia, Prominent nasal bridge, Short nose, Underdeveloped nasal alae, Pierre-Robin sequence...	ORPHA:364577
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micropenis, Renal hypoplasia	OMIM:609029
Microform Holoprosencephaly	Duodenal atresia, Short nose, Choanal atresia, Solitary median maxillary central incisor, Midnasa...	ORPHA:280200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Short nose, Cleft palate, Anteverted nares, Downturned corners of mouth, Long philtr...	ORPHA:163649
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate	OMIM:613456
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia	OMIM:617660
Glutamine Deficiency, Congenital	Short nose, Anteverted nares, Neonatal death, Thin vermilion border, Wide nasal bridge, Depressed...	OMIM:610015
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal palate morphology, Short nose, Deep philtrum, Anteverted nares, Thin vermilion border, C...	ORPHA:2701
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Non-midline cleft lip, Cleft palate	ORPHA:2476
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal agenesis, Renal hyp...	OMIM:617666
Ohdo Syndrome	Hypoplasia of teeth, Short nose, Widely spaced teeth, Anteverted nares, Narrow mouth, Long philtr...	OMIM:249620
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate	ORPHA:2736
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Short nose, Anteverted nares, Everted lower lip vermilion, Dental crowding, Long phi...	OMIM:617877
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge	OMIM:618379
Waardenburg Syndrome Type 1	Short nose, Underdeveloped nasal alae, Aganglionic megacolon, Cleft palate, Tented upper lip verm...	ORPHA:894
Microphthalmia, Syndromic 9	Hydronephrosis, Horseshoe kidney, Neonatal death, Renal malrotation, Pelvic kidney, Renal hypoplasia	OMIM:601186
Isotretinoin Syndrome	Depressed nasal bridge, Cleft palate	ORPHA:2305
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Submucous cleft hard palate, Cleft palate, Anteverted nares, Long philtrum, Thin verm...	OMIM:614701
Marden-Walker Syndrome	Micropenis, Renal hypoplasia, Hypospadias	OMIM:248700
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Cleft palate, Narrow mouth, Smooth philtrum, Hypodontia, Wide nasal br...	ORPHA:1973
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	High palate, Short nose, Anteverted nares, Tented upper lip vermilion, Long philtrum, Narrow nasa...	OMIM:619383
Codas Syndrome	Midline defect of the nose, Short nose, Abnormality of dental morphology, Anteverted nares, Delay...	ORPHA:1458
Fetal Gaucher Disease	High palate, Death in infancy, Neonatal death, Anteverted nares, Stillbirth, Depressed nasal bridge	ORPHA:85212
Intellectual Developmental Disorder, X-Linked 21	Open mouth, Short nose, Tented upper lip vermilion, Dental crowding	OMIM:300143
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Short nose, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum, W...	OMIM:618571
Oculomaxillofacial Dysostosis	Abnormality of the dentition, Underdeveloped nasal alae, Cleft palate, Abnormality of the nose, W...	ORPHA:1794
Anophthalmia Plus Syndrome	Bilateral cleft lip and palate, Abnormal nasal morphology, Choanal atresia, Cleft palate, Non-mid...	ORPHA:1104
Distal Deletion 9P	Abnormality of the dentition, Short nose, High, narrow palate, Cleft palate, Wide nasal bridge	ORPHA:1642
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Macroglossia, High palate, Open mouth, Short nose, Widely spaced teeth, Downturned corners of mou...	ORPHA:369891
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Broad philtrum, Short nose, Anteverted nares, Long philtrum, Wide nasal bridge	OMIM:618577
Carey-Fineman-Ziter Syndrome	High palate, Aplasia/Hypoplasia of the tongue, Short nose, Cleft palate, Anteverted nares, Long p...	ORPHA:1358
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Pierre-Robin sequence, Submucous cleft hard palate	OMIM:192445
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad nasal tip, Anal atresia, Short nose, Aganglionic megacolon, Cleft palate, Tented upper lip ...	OMIM:614749
Femoral-Facial Syndrome	Short nose, Cleft palate, Long philtrum, Thin upper lip vermilion, Orofacial cleft	ORPHA:1988
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Smooth philtrum, Slender nose, Thin upper lip vermilion, Wide mouth	OMIM:615419
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short nose, Short philtrum	ORPHA:85277
Orofaciodigital Syndrome Ix	Broad nasal tip, High palate, Abnormality of the dentition, Bifid nasal tip, Accessory oral frenu...	OMIM:258865
Down Syndrome	Macroglossia, Anal atresia, Open mouth, Abnormality of the dentition, Short nose, Microdontia, Ag...	ORPHA:870
Tetrasomy 18P	Narrow mouth, Short nose, Long philtrum, Thin vermilion border	ORPHA:3307
5Q14.3 Microdeletion Syndrome	Open mouth, Short nose, Short philtrum, Anteverted nares	ORPHA:228384
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Short nose, Everted lower lip vermilion, Tented upper lip vermilion, Smooth philtru...	ORPHA:261144
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Hyperechogenic kidneys, Miscarriage	OMIM:619695
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Open mouth, Short nose, Widely spaced teeth, Everted lower lip vermilion, Advanced eruption of te...	OMIM:617865
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Broad nasal tip, Anteriorly placed anus, Short nose, Aganglionic megacolon, Cleft palate, Tented ...	OMIM:239300
Johanson-Blizzard Syndrome	Anal atresia, Oligodontia, Abnormality of the dentition, Anteriorly placed anus, Malabsorption, S...	ORPHA:2315
Emanuel Syndrome	Unilateral renal agenesis, Micropenis, Renal hypoplasia	ORPHA:96170
Orofaciodigital Syndrome X	Depressed nasal bridge, Cleft palate	OMIM:165590
Edinburgh Malformation Syndrome	Short nose, Choanal atresia, Anteverted nares, Narrow mouth, Downturned corners of mouth, Thin ve...	ORPHA:1895
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Unilateral renal agenesis, Micropenis, Renal hypoplasia	OMIM:616541
Microtia, Hearing Impairment, And Cleft Palate	Cleft palate	OMIM:612290
15Q14 Microdeletion Syndrome	Abnormality of the dentition, Prominent nasal bridge, Cleft palate, Long philtrum, Smooth philtru...	ORPHA:261190
Duane-Radial Ray Syndrome	Hydronephrosis, Horseshoe kidney, Renal malrotation, Vesicoureteral reflux, Crossed fused renal e...	OMIM:607323
Antley-Bixler Syndrome	Short nose, Choanal atresia, Cleft palate, Anteverted nares, Narrow mouth, Long philtrum	ORPHA:83
Fanconi Anemia, Complementation Group F	Pelvic kidney, Vesicoureteral reflux, Renal hypoplasia, Microphallus	OMIM:603467
Pallister-Hall Syndrome	Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Neonatal death, Renal dyspla...	OMIM:146510
Holoprosencephaly 11	Cleft lip, Cleft palate	OMIM:614226
Lowry-Maclean Syndrome	Midgut malrotation, Pyloric stenosis, Short nose, Choanal atresia, Talon cusp, Cleft palate, High...	ORPHA:2409
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	High palate, Oligodontia, Short nose, Dental crowding, Long philtrum, Wide nasal bridge, Thick ve...	OMIM:617061
Gomez-Lopez-Hernandez Syndrome	High palate, Short nose, Anteverted nares, Smooth philtrum, Thin vermilion border	OMIM:601853
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft palate, Narrow mouth, Cleft upper lip, Bifid nose	OMIM:239800
Pfeiffer Syndrome	High palate, Short nose, Choanal atresia, Dental crowding, Choanal stenosis, Depressed nasal bridge	OMIM:101600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Short nose, Anteverted nares, Protruding tongue, Depressed nasal bridge	OMIM:242860
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Wide nasal ...	OMIM:618316
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Open mouth, Bifid uvula, Submucous cleft hard palate, Supernumerary tooth, Thin verm...	OMIM:617412
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Short nose, Aganglionic megacolon, Cleft palate, Tented upper lip vermilion, Wid...	OMIM:614207
Acrocephalopolydactyly	Short nose, Depressed nasal ridge	ORPHA:221054
Marshall Syndrome	High palate, Abnormality of the dentition, Short nose, Cleft palate, Anteverted nares, Long philt...	ORPHA:560
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Depressed nasal tip, Thick nasal alae, Smooth philtrum, Broad columella, Short philtrum, Bulbous ...	ORPHA:293725
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep...	ORPHA:49041
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Accessory oral frenulum, Cleft palate	ORPHA:79113
16P13.11 Microdeletion Syndrome	Short nose, Cleft palate, Anteverted nares, Smooth philtrum, Thin upper lip vermilion, Depressed ...	ORPHA:261236
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Choanal atresia, Hyposmia, Cleft palate, Anosmia, Cleft upper lip	OMIM:147950
Aase-Smith Syndrome I	Open mouth, Death in infancy, Cleft palate	OMIM:147800
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Depressed nasal bridge	ORPHA:99688
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, High palate, Wide nasal bridge	OMIM:218000
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Cleft palate	ORPHA:2010
Exstrophy-Epispadias Complex	Bladder fistula, Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal tran...	ORPHA:322
Microphthalmia With Limb Anomalies	High palate, Short nose, Deep philtrum, Flared nostrils, Cleft palate, Depressed nasal bridge, Cl...	OMIM:206920
Acrodysostosis	Open mouth, Short nose, Anteverted nares, Delayed eruption of teeth, Wide nasal bridge, Depressed...	ORPHA:950
Pseudotrisomy 13 Syndrome	Renal agenesis, Micropenis, Renal hypoplasia	OMIM:264480
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hydronephrosis, Nephrocalcinosis, Renal artery stenosis, Aminoaciduria, Renal hypoplasia	OMIM:617913
Raine Syndrome	High palate, Short nose, Choanal atresia, Death in infancy, Microdontia, Enamel hypoplasia, Cleft...	OMIM:259775
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia, Cleft palate	OMIM:614880
Developmental And Epileptic Encephalopathy 75	Open mouth, Short nose, Anteverted nares, Wide nasal bridge, Short philtrum	OMIM:618437
Marshall-Smith Syndrome	Open mouth, Short nose, Choanal atresia, Protruding tongue, Anteverted nares, Gingival overgrowth	ORPHA:561
Teebi Hypertelorism Syndrome 1	Short nose, Anteverted nares, Dental crowding, Long philtrum, Natal tooth, Wide nasal bridge, Dep...	OMIM:145420
Smith-Magenis Syndrome	Open mouth, Short nose, Taurodontia, Cleft palate, Anteverted nares, Tented upper lip vermilion, ...	ORPHA:819
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Thick vermilion border, Open mouth, Short nose, Downturned corners of mouth, Rec...	ORPHA:391372
Schilbach-Rott Syndrome	Long nose, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Prominent nose	OMIM:164220
Oculodentodigital Dysplasia	High palate, Premature loss of teeth, Selective tooth agenesis, Short nose, Underdeveloped nasal ...	OMIM:164200
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Short nose, Choanal atresia, Deep philtrum, Cleft palate, Anteverted nares	OMIM:610536
Chromosome 17Q12 Deletion Syndrome	Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of...	OMIM:614527
Acrocallosal Syndrome	Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermilion border, Smooth...	OMIM:200990
Birk-Barel Syndrome	High palate, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Short philtrum	OMIM:612292
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Short nose, Deep philtrum, Anteverted nares, Tented upper lip vermilion, Depressed n...	ORPHA:314655
Stromme Syndrome	Stillbirth, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
16P12.1P12.3 Triplication Syndrome	Short nose, High, narrow palate, Long philtrum, Thin vermilion border, Bulbous nose, Wide mouth	ORPHA:485405
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, High palate, Premature loss of teeth, Hypoplasia of teeth, Short nose, ...	OMIM:608612
Pontocerebellar Hypoplasia, Type 10	High palate, Short nose, Underdeveloped nasal alae, Widely spaced teeth, Wide nasal bridge, Bulbo...	OMIM:615803
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Anal atresia, High palate, Short nose, Dental crowding, Narrow nose, Downturned corner...	OMIM:617602
3C Syndrome	Anal atresia, Intestinal malrotation, Short nose, Death in infancy, Cleft palate, High, narrow pa...	ORPHA:7
Achondrogenesis	Short nose, Long philtrum, Anteverted nares	ORPHA:932
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Microcephaly-Capillary Malformation Syndrome	Cleft palate, Short nose, Wide nose	OMIM:614261
Malan Syndrome	Short nose, Everted lower lip vermilion, Advanced eruption of teeth, Narrow mouth, Gingival overg...	OMIM:614753
Pfeiffer Syndrome Type 2	Anal atresia, High palate, Intestinal malrotation, Short nose, Choanal atresia, Cleft palate, Dep...	ORPHA:93259
Holoprosencephaly 3	Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Proboscis, Short columella, Cl...	OMIM:142945
Pterygium Colli, Isolated	Short nose	OMIM:177990
Penile Agenesis	Hydronephrosis, Fetal pyelectasis, Hydroureter, Urethral fistula, Abnormality of the bladder, Abs...	ORPHA:49
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	High palate, Open mouth, Abnormality of the dentition, Short nose, Deep philtrum, Anteverted nare...	OMIM:615398
Al-Raqad Syndrome	Narrow mouth, Short nose, Thin upper lip vermilion	OMIM:616459
Pfeiffer Syndrome Type 1	Short nose, High palate, Depressed nasal bridge	ORPHA:93258
Baraitser-Winter Syndrome 1	Short nose, Anteverted nares, Long philtrum, Thin upper lip vermilion, Wide nasal bridge, Cleft u...	OMIM:243310
Macrocephaly/Autism Syndrome	Long philtrum, Short nose, High palate, Depressed nasal bridge	OMIM:605309
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Short nose, Prominent nasal bridge, Aganglionic megacolon	OMIM:613870
Schneckenbecken Dysplasia	Stillbirth, Short nose, Cleft palate	OMIM:269250
Holoprosencephaly 7	Median cleft palate, Depressed nasal tip, Midline defect of the nose, Median cleft lip and palate...	OMIM:610828
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, High palate, Short nose, Downturned corners of mouth, Smooth philtrum, Depressed nasal...	OMIM:618590
Bainbridge-Ropers Syndrome	Broad nasal tip, High palate, Intestinal malrotation, Prominent nasal bridge, Underdeveloped nasa...	OMIM:615485
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Depressed nasal br...	ORPHA:284169
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Abnormality of the dentition, Prominent nasal bridge, Agenesis of permanent teeth, S...	ORPHA:251028
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Death in childhood, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:618961
Cerebrooculonasal Syndrome	High palate, Prominent nasal bridge, Short nose, Broad philtrum, Solitary median maxillary centra...	OMIM:605627
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Renal hypoplasia, Renal cyst	OMIM:616300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Duodenal stenosis	ORPHA:2547
Prolidase Deficiency	Concave nasal ridge, Short nose, High palate, Depressed nasal bridge	OMIM:170100
Aarskog-Scott Syndrome	Short nose, Broad philtrum, Cleft palate, Anteverted nares, Hypodontia, Wide nasal bridge, Curved...	OMIM:305400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Short nose, Deep philtrum, Death in infancy, Anteverted nares, Wide nose, Dep...	OMIM:613320
Andersen-Tawil Syndrome	Renal hypoplasia, Renal tubular dysfunction	ORPHA:37553
Cerebrofacioarticular Syndrome	Renal hypoplasia, Hypospadias	ORPHA:314679
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Short nose, Protruding tongue, Long philtrum, Gingival overgrowth, Wide n...	OMIM:619179
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Short nose, Short nasal septum, Depressed nasal bridge	OMIM:302950
Nabais Sa-De Vries Syndrome, Type 1	Prominent nasal bridge, Short nose, Smooth philtrum, Bulbous nose, Depressed nasal bridge	OMIM:618828
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	High palate, Short nose, Deep philtrum, Dental malocclusion, Thin upper lip vermilion	ORPHA:329178
Khan-Khan-Katsanis Syndrome	Hydronephrosis, Renal cyst, Ureteral duplication, Vesicoureteral reflux, Renal hypoplasia	OMIM:618460
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Meckel diverticulum	ORPHA:163961
Van Maldergem Syndrome 1	Renal hypoplasia, Hypospadias	OMIM:601390
Leukodystrophy, Hypomyelinating, 10	Short nose, Anteverted nares, Long philtrum, Thin vermilion border, Smooth philtrum, Bulbous nose	OMIM:616420
Trisomy 8Q	High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft lip, Bifid tongue, Wide...	ORPHA:1752
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Volvulus, Depressed nasal bridge	OMIM:617802
Renal Dysplasia	Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi...	ORPHA:93108
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Short nose, Cleft palate, Anteverted nares, Wide nasal bridge	OMIM:616897
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	High palate, Short nose, Deep philtrum, Tented upper lip vermilion, Depressed nasal bridge, Exagg...	OMIM:619833
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma	ORPHA:2874
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Death in infancy, Depressed nasal ridge, Short philtrum, Wide mouth	ORPHA:163966
Achondrogenesis Type 1B	Short nose, Long philtrum, Anteverted nares	ORPHA:93298
Multiple Epiphyseal Dysplasia, Lowry Type	Broad nasal tip, Cleft hard palate	ORPHA:166016
Cutis Laxa, Autosomal Recessive, Type Iia	High palate, Short nose, Anteverted nares, Narrow mouth, Long philtrum, Carious teeth	OMIM:219200
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis	OMIM:620183
Cerebrofaciothoracic Dysplasia	Short nose, Broad philtrum, Cleft palate, Wide nose, Cleft upper lip, Wide mouth	ORPHA:1394
Short-Rib Thoracic Dysplasia 12	Cystic renal dysplasia, Renal hypoplasia, Neonatal death	OMIM:269860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Glossoptosis, Underdeveloped nasal alae, Anteverted nares	ORPHA:2031
Marshall Syndrome	Bifid uvula, Short nose, Cleft palate, Anteverted nares, Macrodontia of permanent maxillary centr...	OMIM:154780
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Oligodontia, Hypoplasia of teeth, Short nose, Anteverted nares, Wide nose, Narrow mouth, Downturn...	ORPHA:391408
Van Maldergem Syndrome 2	Micropenis, Renal hypoplasia, Hypospadias	OMIM:615546
19P13.13 Microdeletion Syndrome	Macroglossia, High palate, Short nose, Anteverted nares, Narrow mouth, Smooth philtrum, Depressed...	ORPHA:357001
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis	OMIM:619817
3Q29 Microdeletion Syndrome	High palate, Abnormality of the dentition, Prominent nasal bridge, Short nose, Everted lower lip ...	ORPHA:65286
Pfeiffer Syndrome Type 3	Anal atresia, High palate, Intestinal malrotation, Short nose, Choanal atresia, Cleft palate, Dep...	ORPHA:93260
Developmental Delay With Or Without Dysmorphic Facies And Autism	Hydronephrosis, Renal cyst, Microphallus, Vesicoureteral reflux, Renal hypoplasia	OMIM:618454
Achondrogenesis Type 1A	Short nose, Long philtrum, Anteverted nares	ORPHA:93299
Cornelia De Lange Syndrome 1	Abnormal renal morphology, Proteinuria, Renal cyst, Ectopic kidney, Reduced renal corticomedullar...	OMIM:122470
Donnai-Barrow Syndrome	Intestinal malrotation, Short nose, Depressed nasal bridge	ORPHA:2143
Ulnar-Mammary Syndrome	Renal hypoplasia, Hypoplasia of penis	ORPHA:3138
Robinow Syndrome, Autosomal Dominant 3	Anteriorly placed anus, Agenesis of permanent teeth, Cleft lip, Short nose, Cleft palate, Antever...	OMIM:616894
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Death in childhood, High palate, Low insertion of columella, Short nose, Underdeveloped nasal ala...	OMIM:619005
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Open mouth, Short nose, Tented upper lip vermilion, Downturned corners of mouth, Bulbous nose, De...	OMIM:618430
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis	OMIM:619362
Fibrochondrogenesis 1	Short nose, Cleft palate, Anteverted nares, Narrow mouth, Stillbirth, Long philtrum, Depressed na...	OMIM:228520
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Long philtrum	OMIM:300887
Kinsship Syndrome	Horseshoe kidney, Death in infancy, Renal hypoplasia	OMIM:619297
Intellectual Disability-Strabismus Syndrome	High palate, Abnormality of the dentition, Short nose, Thick vermilion border, Prominent nose, De...	ORPHA:363528
Arthrogryposis, Distal, Type 2A	High palate, Pursed lips, Short nose, Underdeveloped nasal alae, Dental crowding, Narrow mouth, L...	OMIM:193700
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge	OMIM:616910
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Short nose, Wide nasal bridge	OMIM:611936
Autosomal Dominant Omodysplasia	Short nose, Long philtrum, Depressed nasal bridge	ORPHA:93328
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteriorly placed anus, Short nose, Cleft palate, Anteverted nares, Downturned corners of mouth, ...	OMIM:217980
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Micropenis, Renal hypoplasia	OMIM:614083
Smith-Kingsmore Syndrome	Open mouth, Short nose, Long philtrum, Smooth philtrum, Depressed nasal bridge, Thin upper lip ve...	OMIM:616638
C Syndrome	Thick anterior alveolar ridges, High palate, Short nose, Accessory oral frenulum, Anteverted nare...	OMIM:211750
Baller-Gerold Syndrome	Anal atresia, High palate, Prominent nasal bridge, Anteriorly placed anus, Malabsorption, Short n...	ORPHA:1225
Cenani-Lenz Syndrome	Short nose, High, narrow palate, Hypodontia, Convex nasal ridge, Abnormal dental enamel morpholog...	ORPHA:3258
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Concave nasal ridge, Macroglossia, Short nose, Anteverted nares, Depressed nasal bridge	OMIM:613038
Congenital Disorder Of Glycosylation, Type Il	Short nose, Long philtrum, Wide mouth, Depressed nasal bridge	OMIM:608776
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Short philtrum, Thin vermilion border, Downturned corners of mouth	ORPHA:2983
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Short nose, Multiple impacted teeth, Cleft palate, Narrow mouth, Wide n...	OMIM:311300
Frontofacionasal Dysplasia	Midline defect of the nose, Bifid uvula, Short nose, Underdeveloped nasal alae, Cleft upper lip, ...	OMIM:229400
Micro Syndrome	High palate, Short nose, Anteverted nares, Wide nasal bridge, Short philtrum	ORPHA:2510
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Smooth philtrum	OMIM:614526
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki...	OMIM:263200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Broad nasal tip, High palate, Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum,...	OMIM:300749
Peho Syndrome	Open mouth, Short nose, Tented upper lip vermilion	OMIM:260565
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal atresia, High palate, Open mouth, Short nose, Cleft palate, Anteverted nares, Long philtrum,...	OMIM:614080
Alagille Syndrome 1	Stage 5 chronic kidney disease, Duplicated collecting system, Renal artery stenosis, Renal dyspla...	OMIM:118450
Bladder Exstrophy And Epispadias Complex	Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy	OMIM:600057
Intellectual Developmental Disorder, Autosomal Dominant 1	Macroglossia, Open mouth, Short nose, Widely spaced teeth, Microdontia, Short columella, Everted ...	OMIM:156200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Microdontia, Cleft palate, Abnormal dental enamel morphology, Depressed nasal bridge	ORPHA:1812
Nablus Mask-Like Facial Syndrome	High palate, Abnormality of the dentition, Short nose, Anteverted nares, Everted lower lip vermil...	OMIM:608156
Autosomal Recessive Faciodigitogenital Syndrome	High palate, Prominent nasal bridge, Short nose, Deep philtrum, Anteverted nares, Everted lower l...	ORPHA:1974
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Abnormality of the dentition, Tooth malposition, Short nose, Talon cusp, Microdontia...	ORPHA:363417
Desmosterolosis	Intestinal malrotation, Bifid uvula, Short nose, Submucous cleft hard palate, Cleft palate, Narro...	ORPHA:35107
Tetrasomy 5P	High palate, Short nose, Anteverted nares, Long philtrum, Wide nasal bridge	ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Wide nasal bridge, Depressed nasal ...	OMIM:616430
Rhombencephalosynapsis	Esophageal atresia, Anal atresia, Short nose, Aganglionic megacolon, Anteverted nares, Narrow mou...	ORPHA:59315
16P11.2P12.2 Microdeletion Syndrome	Long nose, Open mouth, Short nose, Anteverted nares, Absent nasal bridge, Bulbous nose, Orofacial...	ORPHA:261211
Desmosterolosis	Short nose, Gingival fibromatosis, Cleft palate, Anteverted nares, Alveolar ridge overgrowth, Hyp...	OMIM:602398
Craniodigital-Intellectual Disability Syndrome	Short nose, Narrow nasal bridge	ORPHA:1514
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Downturned corners of mouth, Thick vermilion border, Anteverted nares	ORPHA:1185
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Anteverted nares, Submucous cleft soft palate, Wide nasal bridge, Cleft soft palate	ORPHA:2282
Boomerang Dysplasia	Underdeveloped nasal alae, Hypoplastic nasal septum, Wide nasal bridge, Neonatal death	OMIM:112310
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short nose, Thin upper lip vermilion, Abnormal nostril morphology	ORPHA:1295
Prader-Willi Syndrome Due To Translocation	Microdontia of primary teeth, Triangular-shaped open mouth, Broad nasal tip, Underdeveloped nasol...	ORPHA:177907
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Depressed nasal ridge, Wide nose	ORPHA:2831
Orofaciodigital Syndrome Type 4	Anal atresia, Bifid uvula, Rectal atresia, Short nose, Choanal atresia, Submucous cleft hard pala...	ORPHA:2753
Hypoglossia-Hypodactyly Syndrome	Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Death in infancy, C...	ORPHA:989
Cockayne Syndrome Type 3	Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater...	ORPHA:90324
Autosomal Recessive Omodysplasia	Short nose, Long philtrum, Depressed nasal bridge, Anteverted nares	ORPHA:93329
Warburg Micro Syndrome 3	Short nose, Narrow palate, Downturned corners of mouth	OMIM:614222
Oculodentodigital Dysplasia	Tooth agenesis, Short nose, Underdeveloped nasal alae, Taurodontia, Abnormal dental enamel morpho...	ORPHA:2710
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Pyloric stenosis, Short nose, Submucous cleft hard palate, Long philtrum, Thin upper...	ORPHA:457279
Diaphanospondylodysostosis	Cleft palate, Short nose, Depressed nasal bridge, Depressed nasal ridge	OMIM:608022
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, High palate, Short nose, Convex nasal ridge, Depressed nasal bridge, Wide mouth	OMIM:300661
Autosomal Recessive Robinow Syndrome	Ankyloglossia, Supernumerary tooth, Bifid tongue, Short nose, Downturned corners of mouth, Wide n...	ORPHA:1507
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	High palate, Oligodontia, Prominent nasal bridge, Underdeveloped nasal alae, Pierre-Robin sequenc...	OMIM:608670
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Horseshoe kidney, Pelvic kidney, Renal agenesis, Renal hypoplasia, Hypospadias	ORPHA:508498
Isotretinoin Embryopathy-Like Syndrome	Cleft palate	OMIM:243440
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short nose, Underdeveloped nasal alae, Solitary median maxillary central incisor, Anteverted nare...	OMIM:613026
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, High palate, Wide nasal bridge	OMIM:618005
Alkuraya-Kucinskas Syndrome	Short nose, High palate, Depressed nasal bridge, Anteverted nares	OMIM:617822
Ruvalcaba Syndrome	Short nose, Dental crowding, Narrow mouth, Thin vermilion border, Convex nasal ridge	ORPHA:3121
Distal Deletion 10Q	Anal atresia, High palate, Prominent nasal bridge, Short nose, Cleft palate, Smooth philtrum, Wid...	ORPHA:96148
8P23.1 Microdeletion Syndrome	High palate, Prominent nasal bridge, Short nose, Thin vermilion border, Wide nasal bridge	ORPHA:251071
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Thin upper lip vermilion, Wide mouth	OMIM:103050
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, High palate, Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Cario...	ORPHA:357074
Meier-Gorlin Syndrome 6	Short nose, Underdeveloped nasal alae, Anteverted nares, Cleft palate, Depressed nasal ridge, Dep...	OMIM:616835
Au-Kline Syndrome	High palate, Oligodontia, Open mouth, Prominent nasal bridge, Bifid uvula, Bifid nasal tip, Short...	OMIM:616580
Miller-Dieker Lissencephaly Syndrome	Duodenal atresia, Short nose, Cleft palate, Anteverted nares, Delayed eruption of teeth, Wide nas...	OMIM:247200
20Q11.2 Microduplication Syndrome	Tented philtrum, Short nose, Abnormal nasal bridge morphology, Anteverted nares, Tented upper lip...	ORPHA:363659
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Absent nares, Bifid uvula, Submucous cleft hard palate, Hyposmia, Cleft palate...	ORPHA:2250
Meckel Syndrome, Type 5	Cleft upper lip, Cleft palate	OMIM:611561
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Short nose, Cleft palate, Narrow mouth, Long philtrum, Depressed nasal bridge, Thin upper lip ver...	OMIM:601353
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Abnormal dental enamel morpholog...	ORPHA:1071
Pde4D Haploinsufficiency Syndrome	Short nose, Long philtrum, Short philtrum, Abnormal dental enamel morphology, Prominent nose, Dep...	ORPHA:439822
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Abnormality of the dentition, Eruption failure, Short nose, Dental crowding, Long ph...	ORPHA:476126
Musculocontractural Ehlers-Danlos Syndrome	High palate, Cleft lip, Short nose, Cleft palate, Narrow mouth, Long philtrum, Malrotation of sma...	ORPHA:2953
Faciodigitogenital Syndrome, Autosomal Recessive	High palate, Prominent nasal bridge, Short nose, Deep philtrum, Anteverted nares, Narrow palate, ...	OMIM:227330
Achondrogenesis, Type Ia	Short nose, Protruding tongue, Anteverted nares, Stillbirth, Depressed nasal bridge, Hypoplastic ...	OMIM:200600
Lathosterolosis	High palate, Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Gingival o...	ORPHA:46059
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Smith-Lemli-Opitz Syndrome	Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Ureteropelvic junction obstructi...	OMIM:270400
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate	OMIM:618021
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Tooth agenesis, Abnormal palate morphology, Short nose, Smooth phil...	ORPHA:1786
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis	OMIM:181270
Mosaic Variegated Aneuploidy Syndrome 1	Duodenal atresia, Short nose, Cleft palate, Anteverted nares, Wide nose, Long philtrum, Triangula...	OMIM:257300
Intellectual Developmental Disorder, X-Linked 98	Long nose, Open mouth, Prominent nasal bridge, Short nose, Underdeveloped nasal alae, Anteverted ...	OMIM:300912
Syndromic Diarrhea	Polycystic kidney dysplasia, Renal hypoplasia	ORPHA:84064
Cardiofaciocutaneous Syndrome 1	High palate, Open mouth, Abnormality of the dentition, Short nose, Submucous cleft hard palate, D...	OMIM:115150
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Hypodontia	ORPHA:544503
Poland Syndrome	Duplicated collecting system, Renal hypoplasia/aplasia, Ureterocele, Vesicoureteral reflux, Renal...	ORPHA:2911
Trisomy 20P	Abnormality of the dentition, Abnormal palate morphology, Short nose, Microdontia, Anteverted nar...	ORPHA:261318
Peho Syndrome	Open mouth, Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Abnorm...	ORPHA:2836
Kaufman Oculocerebrofacial Syndrome

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