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Gene: Cplane2 MGI:1923416

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ciliogenesis and planar polarity effector 2
Synonyms:
b2b2804Clo,  b2b2827Clo,  LOC279260,  6330545A04Rik,  Rsg1

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 Cplane2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cplane2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Tented upp... OMIM:619143
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Li... ORPHA:401935
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Persistent left superior vena cava, Hand polydactyl... OMIM:314390
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal... ORPHA:3434
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Micrognathia, Anophthalmia, Ventricular septal defect, Mic... OMIM:615524
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Abnormal lung lobation, Camptodac... ORPHA:2631
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Cleft palate ORPHA:261272
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... OMIM:620642
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Single transverse palmar cre... ORPHA:2437
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Anterior hypopituitarism, Camptodactyly of finger, Mic... ORPHA:2863
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Micrognathia, Abnorm... ORPHA:2516
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Cleft upper... OMIM:612561
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft... OMIM:225500
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect OMIM:619083
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Autosomal Recessive Amelia
Micrognathia, Amelia, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Aplasia/Hypo... ORPHA:1027
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Short ... OMIM:600987
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Ventricul... OMIM:618142
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Abno... ORPHA:93941
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Double outlet right ... OMIM:231060
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Adams-Oliver Syndrome 6
Foot oligodactyly, Splenomegaly, Truncus arteriosus, Ventricular septal defect, Brachydactyly, Es... OMIM:616589
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, Abnormal met... ORPHA:2538
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... ORPHA:3426
Acces Syndrome
Retrognathia, Ectrodactyly, Supernumerary nipple, Tracheoesophageal fistula, Hip dysplasia, Clino... OMIM:619959
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Interrupted inferi... OMIM:206920
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Chronic bronch... OMIM:615482
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Tracheomalacia, Aglossia, Micrognathia, Narrow mouth... OMIM:202650
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Congenital alveolar dysplasia, Sci... OMIM:608978
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Short distal phalanx of finger, Cleft palate, Ventricular septal defect OMIM:601355
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm, Dex... OMIM:619657
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... ORPHA:1919
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia ORPHA:66630
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat... ORPHA:1923
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Absent uvula, Talipes eq... OMIM:616531
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... OMIM:277740
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... OMIM:618316
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Abnorma... ORPHA:2257
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Chronic sinusitis, Dextrocardia, Recurrent respiratory infections, Bronch... OMIM:614679
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Micrognathia, Radial devia... ORPHA:1388
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Abnorma... ORPHA:958
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Flexion contracture of finger, Campto... OMIM:617194
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Aplastic anemia, Duodenal atresia, Abnormal lung lobation... OMIM:300514
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... OMIM:615415
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Ciliary Dyskinesia, Primary, 37
Goiter, Right aortic arch, Situs inversus totalis, Hypothyroidism, Dextrocardia, Bronchiectasis OMIM:617577
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Chronic sinusitis, Dextroc... OMIM:616037
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Anorectal anomaly... ORPHA:887
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Intestinal malrotation, Mitral valve prolapse, Arachnodactyly, Aortic an... ORPHA:115
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Jawad Syndrome
Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal cr... OMIM:251255
Lethal Congenital Contracture Syndrome 10
Long philtrum, Overlapping fingers, Micrognathia, Femoral bowing, Ventricular septal defect, Card... OMIM:617022
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Cryptorchidism, Orofacial ... ORPHA:85287
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology... OMIM:249670
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C... OMIM:619142
Pallister-Hall-Like Syndrome
Hip dislocation, Microglossia, Toe syndactyly, Micromelia, Postaxial foot polydactyly, Micrognath... OMIM:241800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thin upper lip vermilion, Glossitis, Talipes equinovarus, Tracheoesophageal fistula... OMIM:277380
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Truncus arteriosus, 2-3 toe syndactyly, Ve... OMIM:617516
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Pericardial effusion OMIM:613885
Orofaciodigital Syndrome Xvii
High, narrow palate, Retrognathia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the... OMIM:617926
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Abnormal aortic morphology, Abno... ORPHA:1166
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda... OMIM:217085
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of the pulmonary artery, Ventricular septal defect, A... ORPHA:290
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Emanuel Syndrome
Aortic valve stenosis, Broad jaw, Congenital hip dislocation, Gastroesophageal reflux, Dental cro... OMIM:609029
Feingold Syndrome 1
Micrognathia, Ventricular septal defect, Everted lower lip vermilion, High palate, Duodenal atres... OMIM:164280
Fliedner-Zweier Syndrome
Long philtrum, Hypoplastic aortic arch, Ventricular septal defect, Bicuspid aortic valve, Tracheo... OMIM:620511
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicuspid aortic va... OMIM:265380
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Dextrocardia
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverti... ORPHA:1666
Verheij Syndrome
Short 5th finger, Retrognathia, Long philtrum, Clinodactyly, Truncus arteriosus, Thin upper lip v... OMIM:615583
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal mitral valve morphology, Abn... ORPHA:1277
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Talipes equinovarus, Rocker bottom foot, Microphthalmia OMIM:616570
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Triphalangeal thumb, Abnormal meta... ORPHA:1406
Schisis Association
Micromelia, Unilateral cleft lip, Tracheoesophageal fistula, Anal atresia, Cleft palate ORPHA:63862
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Genu valgum, Cryptorchidism, Ventricular septal defec... ORPHA:289
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:96170
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoes... ORPHA:59315
Ciliary Dyskinesia, Primary, 38
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Tonne-Kalscheuer Syndrome
Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Abno... OMIM:300978
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Atrioventricular canal defect, Micrognathia, Conotruncal defect, Me... ORPHA:40366
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormality of the spleen, Anore... ORPHA:1834
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Dextrocardia, Unilateral brach... OMIM:173800
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Micromelia, Sandal gap, Micrognath... OMIM:256050
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Chronic... OMIM:613807
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Esophageal Atresia
Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect,... ORPHA:1199
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Ventricular septal defect, 2-3 toe synd... OMIM:608572
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Coarctation of ... ORPHA:261243
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Situs inversus totalis, Pol... OMIM:615994
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Dental crowding, Retrognathia, Internally rotated shoulders, Elbow flexion contracture, Micrognat... OMIM:617468
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Microretrognathia, Broad thumb, Thick lower lip vermilion, Campto... ORPHA:3080
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Goiter, Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular ... ORPHA:142
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia, Coarctation of aorta, Abnormal cardiac septum morpholo... OMIM:601612
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Truncus arterio... OMIM:617478
Monosomy 13Q34
Hematochezia, Postaxial foot polydactyly, Micrognathia, Postaxial hand polydactyly, Common atrium... ORPHA:96168
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal lung lobation, A... ORPHA:1120
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal s... ORPHA:141127
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's ... ORPHA:261120
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Long philtrum, Short ribs, Ventricular septal defect, Postaxial pol... OMIM:617895
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal lung lobation, Bilateral single tr... ORPHA:3378
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Joint contracture of the hand, Clinodactyly, Radial deviation of finge... OMIM:136760
Opitz Gbbb Syndrome
Natal tooth, Aortic root aneurysm, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septa... ORPHA:2745
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complete atri... OMIM:264480
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So... OMIM:602418
Temtamy Syndrome
Short toe, Micrognathia, Aortic aneurysm, Brachydactyly, Microphthalmia, Clinodactyly of the 5th ... ORPHA:1777
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, Micrognathia, ... OMIM:612731
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Recurrent res... ORPHA:1839
Xk Aprosencephaly Syndrome
Microphthalmia, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius ORPHA:3469
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect OMIM:235750
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Genu valgum, Bilateral cleft pal... ORPHA:56304
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Joint contracture of the hand, Long philtrum, Micrognathia... OMIM:248700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophagea... ORPHA:77298
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly, Ventricular s... OMIM:608149
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Cleft upper lip, Abnormal heart morphology, Micrognathia, Narrow mouth, 2-3 toe... OMIM:239800
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal ... OMIM:615503
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... OMIM:608227
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtrum, Microme... OMIM:184260
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Gingival fibrom... ORPHA:2591
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Sinusitis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Teebi Hypertelorism Syndrome 1
Small hand, Dental crowding, Natal tooth, Long philtrum, Aortic root aneurysm, Micrognathia, Vent... OMIM:145420
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Renal Tubular Dysgenesis
Tetralogy of Fallot, Bilateral single transverse palmar creases, Pulmonary hypoplasia ORPHA:3033
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Micrognathia, Ventricular septal defect, Orofacial cleft, Tracheoesophageal fistu... ORPHA:268249
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ankyloglossia, Bilateral lung agenesis, Micrognathia, Amelia, V... OMIM:618021
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Chronic sinusitis, Situs inversus totalis, Dextrocardia OMIM:619607
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Talipes equinovar... OMIM:619148
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Gastroesophageal reflux, Downturned corners of mouth... OMIM:611816
Fryns Syndrome
Micrognathia, Cryptorchidism, Anal atresia, High palate, Duodenal atresia, Non-midline cleft of t... ORPHA:2059
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricul... ORPHA:96097
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Abnormal lung lobation, Abnormal heart morphology, Micrognathia, Smooth philtrum, N... OMIM:263210
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Amelia, Ventricular septal defect, Bilateral cleft palate, Bi... OMIM:601357
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Radial bowing,... ORPHA:2879
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Recurrent respirat... OMIM:615444
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Recurrent aspiration pneumonia, Cl... OMIM:300484
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 fin... ORPHA:1692
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Short femur, Unilateral cleft lip, Flared metaphysis, Hypertrophic cardiomyopat... OMIM:616897
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal ... OMIM:619227
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Supernumerary nipple, Tented upper lip vermilio... OMIM:612530
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of... OMIM:619110
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
Renpenning Syndrome
High, narrow palate, Macrodontia, Decreased testicular size, Narrow mouth, Malar flattening, Hete... ORPHA:3242
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Short finger, Hypoplastic heart, Micrognathia, Cleft palate, Pulmonary hypoplasia OMIM:312150
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Retrognathia, Ventricular septal defect, Pulmonary arte... OMIM:301030
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Bro... ORPHA:508498
Juberg-Hayward Syndrome
Cleft upper lip, Anteriorly placed anus, Decreased response to growth hormone stimulation test, L... OMIM:216100
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Short femoral neck, Clin... ORPHA:1708
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of the parathyroid gland, Finger syndactyly, ... ORPHA:3429
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Rectal prolapse, Gastroesophageal reflux, Tracheomalacia, Bronchomalacia, Vascular ... OMIM:613177
Bardet-Biedl Syndrome 7
Clinodactyly, Malar flattening, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Orofac... ORPHA:2549
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft, Widely-space... OMIM:601349
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Diabetic Embryopathy
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1926
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal fistula, Thyroid... ORPHA:861
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl... ORPHA:84
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Ventricular septal defect,... OMIM:134780
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Trache... ORPHA:1780
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal hip bone morphology, Abnormal palate morphology, Hypogonadotr... ORPHA:3068
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... ORPHA:1106
Suleiman-El-Hattab Syndrome
Microretrognathia, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Recurre... OMIM:618950
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect OMIM:113301
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Abnormal heart morphology, Clubbing of fingers, B... ORPHA:1865
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Micrognathia, Ventricular septal defect ORPHA:1918
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Renal Agenesis, Bilateral
Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the u... ORPHA:1848
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta... ORPHA:1278
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Recurrent respiratory infections, Hamartoma ... OMIM:174300
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Micrognathia, Atrial septal defect, Brachydactyly, Microphthalmia OMIM:614526
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Microphthalmia, Patent ductus arteriosus, Symphalangism af... ORPHA:2547
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Thanatophoric Dysplasia
Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Atrial septal defect... ORPHA:2655
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis morphology, Ventricu... ORPHA:93267
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia OMIM:614096
Trisomy 1Q
Toe syndactyly, Microretrognathia, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalm... ORPHA:261344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal d... ORPHA:99776
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Joint contracture of... OMIM:618914
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Patent ductus arteriosus, Abs... OMIM:227646
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Amelia, Syndactyly, Testicular atrophy, Clinodactyly of t... OMIM:601163
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Cardiomyopathy, Narrow mouth, Patent foramen ov... OMIM:616866
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... ORPHA:980
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Precocious puberty, Small hypothenar eminence, Retrognathia, Long philtrum, ... ORPHA:96092
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... OMIM:308050
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Single transverse palmar crease, U... OMIM:617866
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Ventr... OMIM:616145
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia OMIM:106700
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... ORPHA:435638
Atelosteogenesis Type I
Laryngotracheal stenosis, Rhizomelia, Short femur, Abnormal pancreatic duct morphology, Micrognat... ORPHA:1190
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, V... ORPHA:90308
Chronic Granulomatous Disease
Abnormality of neutrophils, Splenomegaly, Tracheoesophageal fistula, Sinusitis, Gingivitis, Recur... ORPHA:379
Genitopatellar Syndrome
Hypoplastic ilia, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Micrognathia... ORPHA:85201
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han... OMIM:263520
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Micrognathia, Abnormal aortic valve morpholog... ORPHA:261197
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Truncus arteriosus OMIM:206700
Hydrolethalus
Micromelia, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Postaxial hand polydactyly ORPHA:2189
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Arachnodactyly, Atrial septal defect, Cleft palate ORPHA:93946
Aarskog-Scott Syndrome
Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Delayed eruption of teeth, L... ORPHA:915
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ... OMIM:612582
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Micrognathia, Cryptorchidism, Tali... ORPHA:2886
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Micromelia, Finger syndactyly, Tetralogy of Fallot, Micrognathia, Situs inversus total... ORPHA:1908
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Sandal gap, Endocardial fibroelastosis, Micrognathia, Cryptorchidism,... ORPHA:2022
Alg3-Cdg
Cardiomyopathy, Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnormality of... ORPHA:79321
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Micrognathia, Complete atrio... OMIM:617925
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Atrial septal defect, Microphthalmia OMIM:300887
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Lower limb undergrowth, Tibial... ORPHA:3035
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Preaxial polyd... OMIM:616300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Downturned corners of mouth, Cleft upper lip, Short toe, Abnormal... OMIM:239300
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropen... OMIM:612541
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Patent ductus arteriosu... OMIM:269860
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Polysplenia, Coronary artery fistula, Tented upper lip vermilion, Cryptorchidism... OMIM:614294
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Micrognathia, Narrow mouth, Situs inversus totalis, Hypodontia, Asplen... OMIM:612776
Chromosome 1P36 Deletion Syndrome, Proximal
Cleft lip, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Li-Campeau Syndrome
Long philtrum, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defe... OMIM:619189
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Micrognathia, Cryptorchidism, Tracheoesophageal fistula, Eso... ORPHA:3412
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Split foot OMIM:183700
Pentasomy X
Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Abnormal cardiac septum... ORPHA:11
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Missing ribs, Talipes equinovarus, Tracheoesophageal fistula, Esophagea... OMIM:619859
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Polydactyly, Ventricular septal defect, Syndactyly OMIM:602501
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect... OMIM:601808
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, Bicuspid aortic valve, Atrial s... OMIM:615981
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Zechi-Ceide Syndrome
Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Sandal gap, Abnormal hear... ORPHA:217017
Distal Deletion 15Q
Small hand, Micrognathia, Genu valgum, Cryptorchidism, Bicuspid aortic valve, Talipes equinovarus... ORPHA:1596
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Ventri... OMIM:605039
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Thin upper li... OMIM:618929
Bardet-Biedl Syndrome 8
Hypogonadism, Postaxial polydactyly, Situs inversus totalis OMIM:615985
Joubert Syndrome 18
Retrognathia, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Talipes equino... OMIM:614815
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, C... OMIM:313850
Oculofaciocardiodental Syndrome
Peripheral pulmonary artery stenosis, Short thumb, Delayed eruption of teeth, Genu valgum, Flexio... ORPHA:2712
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Cleft lip, Bilateral lung agenesis, Adrenal gland agene... OMIM:611812
Zechi-Ceide Syndrome
Short distal phalanx of finger, Sandal gap, Cleft upper lip, Malar flattening, Oligodontia, Short... OMIM:612916
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Arachnodact... ORPHA:567
Multiple Pterygium Syndrome, Lethal Type
Short finger, Hypoplastic heart, Micrognathia, Cleft palate, Pulmonary hypoplasia OMIM:253290
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalm... OMIM:618652
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microglossia, Microretrognathia, Short tibia, Short thu... ORPHA:1972
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Tal... OMIM:150250
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Short thumb, Long philtrum, Prominent fingertip pads, Micrognathia,... OMIM:618821
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn... OMIM:142900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal heart morphology, Micrognathia, Cryptorchidism, Single tr... OMIM:214110
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Hypoplastic aortic arch, Micrognathia, Arachnodactyly, A... ORPHA:314588
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Achondrogenesis Type 2
Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed proximal femor... ORPHA:93296
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atr... OMIM:107480
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Ventri... OMIM:154400
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Clinodactyly,... OMIM:305400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Microphthalmia ORPHA:2432
Meckel Syndrome 14
Microretrognathia, Postaxial foot polydactyly, Retrognathia, Micrognathia, Bowing of the long bon... OMIM:619879
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Aplasia/Hypoplasia of the lungs, Th... ORPHA:1046
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Everted lower lip vermilion,... OMIM:611174
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Dyskeratosis Congenita
Carious teeth, Periodontitis, Esophageal stenosis, Hypoplasia of the maxilla, Palmoplantar kerato... ORPHA:1775
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Retrognathia, Long philtrum, Cleft upper lip, Cryptorchidism, Thin upper l... OMIM:243310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Single transverse palmar cre... ORPHA:3304
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Char Syndrome
Toe syndactyly, Supernumerary nipple, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Pe... ORPHA:46627
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Median pseudocleft lip, Micrognathi... OMIM:619648
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of rig... ORPHA:99050
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... OMIM:619534
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Abnormal palate morpholog... ORPHA:921
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognath... OMIM:201000
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Abnormal lung lobation, Abnormality of the wrist, Micrognathia, Abnormal femur mo... ORPHA:2063
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Atrial septal defect, High pal... OMIM:612474
Constricting Bands, Congenital
Cleft upper lip, Abnormal lung lobation, Talipes equinovarus, Hand polydactyly, Ectopia cordis, C... OMIM:217100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Gastroesophageal reflux, Prominent fingertip pads, Long phil... OMIM:619721
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Maternal diabetes, Anterior pituit... ORPHA:3157
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Long philtrum, Narrow mouth, Ventricular septal defect, Atrial septal de... ORPHA:228399
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:609654
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Shor... OMIM:169400
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Rhizomelic Syndrome
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Hip dislocation, Pulmonic stenosis, ... OMIM:268250
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Single transverse palmar crease, Coarctation of aort... OMIM:615502
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Hy... ORPHA:508488
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Dislocated radial head, Breast aplasia, Preaxial hand poly... OMIM:617063
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, ... ORPHA:3169
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Overlapping toe, Overlapping fi... OMIM:618975
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Small hand, Downturned corners of mouth, Clinodactyly, Abnormal heart morphol... ORPHA:254525
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Malar flattening, Bilatera... ORPHA:2511
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A... OMIM:229850
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Short lower lim... ORPHA:96190
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Diamond-Blackfan Anemia 16
Anemia, Atrial septal defect, Pulmonic stenosis OMIM:617408
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Radioulnar syn... OMIM:192350
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Micrognathia, Microphthalmia OMIM:616171
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia OMIM:601809
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Absent thumb, Hypoplastic sacrum, Micrognathia, Tracheoesophageal fi... OMIM:614083
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Kondoh Syndrome
Interphalangeal joint contracture of finger, Preaxial hand polydactyly OMIM:606242
Penile Agenesis
Anorectal anomaly, Bilateral lung agenesis, Cryptorchidism, Ventricular septal defect, Tracheoeso... ORPHA:49
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Abnormal ilium morphology, Gastroesophageal reflux, Anal stenosis... OMIM:614080
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Thin upper lip vermilion, Oligodontia, Atrial septal defect, Pulmonary... OMIM:618330
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Anal atre... OMIM:305450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fi... OMIM:613091
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short distal phalanx of finger, Bilateral triphalangeal thumbs, Micrognathia,... OMIM:619356
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Absent testis, Perineal fistula... ORPHA:2753
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia, Median... OMIM:258865
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Cleft upper lip, Dysplastic pulmonary valve, Cleft palate OMIM:300958
Smith-Magenis Syndrome
Precocious puberty, Toe syndactyly, Gastroesophageal reflux, Cleft upper lip, Micrognathia, Open ... ORPHA:819
Boomerang Dysplasia
Micromelia, Finger syndactyly, Decreased response to growth hormone stimulation test, Abnormal ti... ORPHA:1263
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft upper lip, Brac... ORPHA:1794
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short 5th finger, Retrognathia, Long philtrum, Bilateral cryptorchidism, Abn... ORPHA:485405
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def... OMIM:300373
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Microdontia, Oli... ORPHA:2315
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Cleft upper lip, Camptodactyly of finger, Cryptorchidism, Exaggerated cu... ORPHA:261236
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal pleura morphology, Tracheoesophageal fistula, Abnormal myoc... ORPHA:537
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Prominent scalp veins, Subluxation of the small joints of the hand, Microg... ORPHA:536471
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... ORPHA:3347
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Ventricular septal ... ORPHA:2876
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Situs inve... OMIM:613686
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Micrognathia, Orofacial cleft, Deep philtrum, Incomplete cleft of the upp... ORPHA:77300
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum, Short philtrum OMIM:613192
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Carpenter Syndrome 2
Carious teeth, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Ta... OMIM:614976
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... ORPHA:244
Septooptic Dysplasia
Polydactyly, Optic nerve hypoplasia, Optic disc hypoplasia, Short finger OMIM:182230
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Temtamy Syndrome
Micrognathia, Talipes equinovarus, Aortic aneurysm, Brachydactyly, Microphthalmia, Short 2nd toe,... OMIM:218340
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism, Ventricular septal d... ORPHA:818
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Polydactyly OMIM:615993
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Micrognathia, Hand polydact... ORPHA:2754
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Clinodactyly of... OMIM:619123
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Cardiomyopathy, Clinodactyly, Tracheomalacia, Anteriorly placed anus... OMIM:217980
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Pulmonary hypoplasia ORPHA:3032
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndactyly, Micrognath... OMIM:225060
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Contracture of the pr... OMIM:300166
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th... OMIM:249000
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Slender finger, Small hypothenar eminence, Cutaneous syndactyly... ORPHA:2872
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon... OMIM:601559
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal... OMIM:600460
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Dysphagia, Patent ductus arteriosus, Gas... ORPHA:138
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi... ORPHA:1842
Braddock-Carey Syndrome 2
Retrognathia, Clinodactyly, Microphthalmia OMIM:619981
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces... OMIM:258860
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly OMIM:615665
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Gastroesophageal reflux, Cleft palate OMIM:612913
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Overlapping fingers, Patent... OMIM:618494
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Aortic root aneurysm, Dysplasia of the femoral head, Micrognathia, Mitral valve pr... ORPHA:536467
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Tetraploidy
Aplasia/Hypoplasia of the thymus, Radial club hand, Micrognathia, Aplasia/Hypoplasia of the lungs... ORPHA:3305
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia ORPHA:1104
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb... ORPHA:75508
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Toe syndactyly, Hypoplasia of the zygomatic bone, Cl... ORPHA:3253
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn... OMIM:251230
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly