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
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 Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, 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