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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
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... OMIM:619143
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Abnormal heart morphology, Abnormal ... ORPHA:294975
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... OMIM:314390
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte... ORPHA:401935
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... ORPHA:3434
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... ORPHA:2631
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium, Pulmonary hypopla... OMIM:615524
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect ORPHA:261272
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact... ORPHA:2437
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... ORPHA:2863
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Micrognathia, High, narrow... ORPHA:2516
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Autosomal Recessive Amelia
Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of the l... ORPHA:1027
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... OMIM:612561
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum OMIM:611867
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve... ORPHA:1919
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Micro... OMIM:618142
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Tracheoesophageal fistula, Abnormal cardiac septum morphology, Trachea... ORPHA:93941
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp... OMIM:231060
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... OMIM:600987
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus... OMIM:616589
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal r... ORPHA:2538
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger OMIM:601355
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Acces Syndrome
Recurrent respiratory infections, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistul... OMIM:619959
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Agnathia-Otocephaly Complex
Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... OMIM:202650
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... ORPHA:1923
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia ORPHA:66630
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... OMIM:619657
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Talipes equinovarus, Pu... OMIM:616531
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr... ORPHA:1388
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Short philtrum, Atrial septal defect, Pulmonary ... OMIM:618316
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Elbow flexion contracture, Retrognathia, Bilateral talipes equinovarus, Pulmon... OMIM:617194
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... ORPHA:1406
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Esophag... OMIM:300514
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Asplenia, Abnormal lung lobation, Femoral bowing, Hypertrophic cardiomyop... OMIM:615415
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic s... OMIM:614679
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Microphthalmia, Syndromic 9
Atrial septal defect, Anophthalmia, Ventricular septal defect, Micrognathia, Agenesis of pulmonar... OMIM:601186
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li... ORPHA:3080
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Cryptorchidism, Anorectal anomaly, Non-midline clef... ORPHA:887
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Micrognathia, Secundum atrial septal defect, Pneu... ORPHA:2257
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Congenital Contractural Arachnodactyly
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra... ORPHA:115
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Cryptorchidism, Orofacial cleft, Large hands, Decreas... ORPHA:85287
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... OMIM:241800
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorc... OMIM:618067
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Femoral b... OMIM:617022
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Pancytopenia, Stomatitis, Dextrocardia, Megaloblastic anemia, Thrombocy... OMIM:277380
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Microphthalmia OMIM:613885
Congenital Tracheomalacia
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho... ORPHA:95430
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Missing ribs, Duodenal stenosis, A... ORPHA:1759
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, Patent ductus arteriosus, 2-3... OMIM:617516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Abnormal aortic morphology, Abnorma... ORPHA:1166
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... ORPHA:290
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Esophageal atresia... OMIM:164280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At... OMIM:265380
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Verheij Syndrome
Thin upper lip vermilion, Ventricular septal defect, Truncus arteriosus, Hip dislocation, Cleft p... OMIM:615583
Emanuel Syndrome
Broad jaw, Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Vent... OMIM:609029
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia OMIM:616570
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp... ORPHA:1277
Schisis Association
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia ORPHA:63862
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Complete atrioventricu... OMIM:619142
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Short ribs, Hypoplas... OMIM:173800
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea... ORPHA:59315
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Micrognathia, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistu... ORPHA:1834
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Atrial septal defect, Microdontia, ... ORPHA:289
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... OMIM:256050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... ORPHA:96170
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Tonne-Kalscheuer Syndrome
Decreased testicular size, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency, Narrow mou... OMIM:300978
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Esophageal Atresia
Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gas... ORPHA:1199
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... OMIM:618021
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate ORPHA:1074
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Cleft upper lip, 2-3 toe syndacty... OMIM:608572
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Micrognathia, E... OMIM:617468
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo... ORPHA:1335
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Chronic sinusitis, Dextrocardia OMIM:618063
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Monosomy 13Q34
Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly, Hematochezia, Pulmonic sten... ORPHA:96168
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Preaxial hand polydactyly, Non-midline cleft ... ORPHA:2549
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax... ORPHA:1120
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... OMIM:612731
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Trisomy 13
Anophthalmia, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Ab... ORPHA:3378
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Narrow mouth, D... ORPHA:261120
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach mo... ORPHA:141127
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... OMIM:136760
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect ORPHA:3469
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... ORPHA:261330
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia ORPHA:3346
Temtamy Syndrome
Micrognathia, Short toe, Genu varum, Aortic aneurysm, Clinodactyly of the 5th finger, Microphthal... ORPHA:1777
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, Micrognathia, Cryptorchidism, High, narrow palate, Pyloric stenosis... OMIM:248700
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Opitz Gbbb Syndrome
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Recurrent aspiration pneum... ORPHA:2745
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... ORPHA:268249
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, C... OMIM:264480
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Coxa valga, Micrognathia, Long fingers, Hypoplas... OMIM:608149
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Cryptorchidism, Esophageal atresia, Patent ductus ar... ORPHA:77298
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Anapl... ORPHA:142
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:606763
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow... ORPHA:1839
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Small... OMIM:239800
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... ORPHA:56304
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Gingival fibromatosi... ORPHA:2591
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases ORPHA:3033
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... OMIM:611816
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Mic... OMIM:184260
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... OMIM:619148
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Gastroeso... ORPHA:2059
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Cari... ORPHA:96097
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ... ORPHA:1692
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Abnormal lung lobation, Abnormal... OMIM:263210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Teebi Hypertelorism Syndrome 1
Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, ... OMIM:145420
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... ORPHA:2879
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Renpenning Syndrome
Mandibular prognathia, Diabetes mellitus, Macrodontia, Abnormal thumb morphology, High, narrow pa... ORPHA:3242
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... OMIM:300484
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Supe... OMIM:612530
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Single coronary artery origin, Ventricular... ORPHA:1708
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart, Short finger OMIM:312150
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresi... OMIM:301030
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... ORPHA:508498
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Ventricular septal defect, Decreased fibular diameter, Cardiomegal... OMIM:616897
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def... ORPHA:1908
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Clinodactyly OMIM:615984
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Transposition of the great a... ORPHA:1926
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Cleft upp... OMIM:216100
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Chronic sinusitis, Dextrocardia, Abdominal situs inversus OMIM:619607
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
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
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial sep... ORPHA:84
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Abn... ORPHA:861
Cutis Laxa, Autosomal Recessive, Type Ic
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Rectal prolapse, Hypoplasia of... OMIM:613177
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... ORPHA:1780
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... OMIM:277170
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... ORPHA:1106
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Abnormal hip... ORPHA:3068
Renal Agenesis, Bilateral
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... ORPHA:1848
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia ORPHA:1918
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cryptorchidism,... ORPHA:1865
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft upp... ORPHA:96167
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Gastroesophagea... OMIM:134780
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b... ORPHA:90652
Suleiman-El-Hattab Syndrome
Microretrognathia, Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal... OMIM:618950
Mosaic Trisomy 9
Micromelia, Micrognathia, Asplenia, Abnormal lung lobation, Finger clinodactyly, High palate, End... ORPHA:99776
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal... ORPHA:2547
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Abnormality of neutrophils, Malabsorption, Mediastin... ORPHA:379
Trisomy 1Q
Microretrognathia, Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventric... ORPHA:261344
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Von Willebrand Disease
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic... ORPHA:93267
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Short thumb, Cryptorchidism, Esoph... OMIM:227646
Thanatophoric Dysplasia
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... ORPHA:2655
Orofaciodigital Syndrome V
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Sandal gap, Ventric... OMIM:174300
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Micrognathia, Precocious puberty, Long fingers, Cryptorc... ORPHA:96092
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Tongue fascicu... OMIM:253300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Clinodactyly of the 5th... OMIM:601163
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... OMIM:618914
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... ORPHA:435638
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... ORPHA:90308
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Intestinal... OMIM:263520
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening ORPHA:93946
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Micrognathia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Hand polyd... ORPHA:261197
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Upper limb undergrowth, Adrenal hypoplasia OMIM:613124
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Cryptorchidism, Patel... ORPHA:85201
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Narrow mouth, Patent ductus arteriosus, Cardiom... OMIM:616866
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... OMIM:225060
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Microphthalmia, Retrognathia ORPHA:2189
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... ORPHA:2751
Tarp Syndrome
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial... ORPHA:2886
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia OMIM:206700
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hamartoma of tongue, Atel... OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, Preaxia... OMIM:617925
Alg3-Cdg
Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Metaphyseal chond... ORPHA:79321
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Bronchomalacia, Coronary si... OMIM:618280
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Endocardial Fibroelastosis
Sandal gap, Micrognathia, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Kapur-Toriello Syndrome
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Intestinal m... OMIM:244300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Abno... ORPHA:3035
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Tetralogy of Fallot OMIM:300887
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, ... ORPHA:2511
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... OMIM:614294
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Charge Syndrome
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat... OMIM:214800
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squa... OMIM:616300
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Cryptorchidism, Gastr... OMIM:619189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasi... OMIM:612541
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... ORPHA:65759
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening OMIM:183700
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb,... OMIM:141400
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Tented upper lip vermilion, Ventricular septal defect, Rocker bo... OMIM:612582
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Pentasomy X
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Radiouln... ORPHA:11
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Cryptorchidism, Esophageal atresia, Hypoplasia of the radius... ORPHA:3412
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Congenital hip dislocation OMIM:164180
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Ventricular septal defect, Polydactyly OMIM:602501
Phosphoribosylaminoimidazole Carboxylase Deficiency
Missing ribs, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Talipes eq... OMIM:619859
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... OMIM:619343
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... OMIM:612776
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Thoracoabdominal Syndrome
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of t... OMIM:313850
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Pos... OMIM:615981
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft... OMIM:614815
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart, Short finger OMIM:253290
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Short thumb, Patent ductus arteriosus, Broad palm, 2-3 toe syndactyly,... ORPHA:2712
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aort... OMIM:618929
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Bohring-Opitz Syndrome
Micrognathia, Gastroesophageal reflux, Atrial septal defect, Dislocated radial head, Syndactyly, ... OMIM:605039
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung age... OMIM:611812
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, A... ORPHA:3098
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism, Postaxial polydactyly OMIM:615985
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormal... OMIM:179613
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl... ORPHA:1596
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Hypopla... ORPHA:567
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism, Cleft palate,... OMIM:214110
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Zechi-Ceide Syndrome
Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morp... ORPHA:217017
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, Hypothyroid... OMIM:107480
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial s... OMIM:618652
Lujan-Fryns Syndrome
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasi... ORPHA:776
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Distal Triplication 15Q
Arachnodactyly, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart m... ORPHA:314588
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Distal Deletion 10P
Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbow, Cleft palate, Poly... ORPHA:1580
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Abnormal... ORPHA:1775
Zechi-Ceide Syndrome
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Short... OMIM:612916
Hamamy Syndrome
Micrognathia, Microcytic anemia, High palate, Atrial septal defect, Clinodactyly of the 5th finge... OMIM:611174
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... OMIM:619879
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Abruzzo-Erickson Syndrome
Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar sy... ORPHA:921
Zaki Syndrome
Toe syndactyly, Micrognathia, Long fingers, Patent ductus arteriosus, Wide mouth, Median pseudocl... OMIM:619648
Achondrogenesis Type 2
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequ... ORPHA:93296
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, I... OMIM:600001
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... OMIM:305400
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Crypto... ORPHA:3304
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections ORPHA:2432
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormality of the philtru... ORPHA:1770
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Atelectasis, Abnormal finger... ORPHA:896
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... OMIM:220210
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Malabsorption, Abnormality of the den... ORPHA:2315
Larsen Syndrome
Short metatarsal, Atrial septal defect, Hypoplastic cervical vertebrae, Short metacarpal, Broncho... OMIM:150250
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal atresia, Tracheoesop... ORPHA:3157
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Pos... ORPHA:404440
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... OMIM:617063
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... ORPHA:508488
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ... OMIM:268250
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Duplication of ... OMIM:243310
Genitopalatocardiac Syndrome
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, Do... ORPHA:2075
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Atria... OMIM:201000
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... ORPHA:199302
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Everted lower lip vermilion, Gastroesophageal reflux, Narr... ORPHA:228399
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibula... ORPHA:96190
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop... OMIM:169400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, High... OMIM:612474
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Constricting Bands, Congenital
Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equi... OMIM:217100
Fryns Syndrome
Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse palmar crease, Proximal ... OMIM:229850
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Intellectual Developmental Disorder, Autosomal Dominant 21
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctat... OMIM:615502
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Sirenomelia
Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ... ORPHA:3169
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... OMIM:244600
Orofacial Cleft 14
Median cleft lip OMIM:615892
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Precocious puberty, Acromicria, Small hand, Abnormal heart morphology, Short foot, ... ORPHA:254525
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol... OMIM:619721
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Esophageal atresia, Tracheoesophag... OMIM:614083
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Respiratory t... OMIM:618975
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Penile Agenesis
Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Anorectal anomaly, ... ORPHA:49
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus, Micrognathia OMIM:616171
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Anal stenosis, Micrognathia, Patent ductus arteriosus, Cleft palate, Hydroc... OMIM:614080
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal... OMIM:619356
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Pulmo... OMIM:618330
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Pulmonary hypoplasia, Micrognathia OMIM:601809
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypopla... OMIM:106260
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Interphalangeal joint contracture of finger OMIM:606242
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Micrognathia, Deep philtrum, Orofacial cleft, Incomplete cleft of the upp... ORPHA:77300
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Triploidy
Finger syndactyly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline cleft lip, C... ORPHA:3376
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent... OMIM:305450
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... OMIM:613091
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal pleura morphology, Malabs... ORPHA:537
Fetal Alcohol Syndrome
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Atrial septal defect... ORPHA:1915
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Distal Monosomy 7Q36
Micrognathia, Cryptorchidism, Non-midline cleft lip, Symphalangism affecting the phalanges of the... ORPHA:1636
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Decreased response to growth hormone stimulation test, Taper... ORPHA:485405
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Esophageal atresia, Hypoplasia... OMIM:192350
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru... ORPHA:1794
Moebius Syndrome
Syndactyly, Brachydactyly, Micrognathia, Microphthalmia, Split hand, Abnormal pelvic girdle bone ... OMIM:157900
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Dysplastic pulmonary valve, Bifid uvula OMIM:300958
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Polydactyly OMIM:615993
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly, Gastroesophageal reflux OMIM:612913
Meckel Syndrome, Type 1
Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft... OMIM:249000
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gas... OMIM:300373
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Micrognathia, Splenomegaly, Aplasia/Hypoplasia of the lungs, Thin vermilion border, N... ORPHA:1046
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Pulmonary hypoplasia ORPHA:3032
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... OMIM:241310
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... ORPHA:2754
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... OMIM:614976
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... ORPHA:536471
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary te... ORPHA:819
16P13.11 Microdeletion Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finge... ORPHA:261236
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Accessory oral frenulum... OMIM:258860
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Micromelia, Abnormality of t... ORPHA:1842
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Dextrocardia, Cleft palate, Orofacial cleft, Hand polydactyly, Foot polyda... ORPHA:220493
Temtamy Syndrome
Micrognathia, Hip dislocation, Aortic aneurysm, Hypoplasia of teeth, Short 2nd toe, Talipes equin... OMIM:218340
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Retrognathia OMIM:619981
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ... ORPHA:75508
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Fib... OMIM:164745
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Downturned corners of mouth, Short philtrum, Slender finger, Smooth philtrum OMIM:613192
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... ORPHA:246
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia ORPHA:1104
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Gastroesophageal reflux, Atria... ORPHA:818
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... OMIM:236500
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... OMIM:300166
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Abnormal femur ... ORPHA:2063
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cle... OMIM:251230
Charge Syndrome
Abnormal tibia morphology, Gastroesophageal reflux, Clinodactyly of the 5th finger, Hypogonadotro... ORPHA:138
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent foramen ovale, Coarctati... OMIM:618494
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia ORPHA:2528
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... OMIM:603387
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Split hand, ... OMIM:600460
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Smooth tongue, Shor... OMIM:601559
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Decreased testicular size, Cleft palate ORPHA:85273
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Cleft palate, Pulmo... ORPHA:994
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Long philtrum, Atrial septal defec... ORPHA:261295
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, C... OMIM:613792
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental morphology, ... ORPHA:3253
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Diabetes mellitus, Tented upper lip vermilion, R... OMIM:618622
Coffin-Siris Syndrome 6
Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Gastroesophageal reflux, Short ph... OMIM:617808
Cofs Syndrome
Microphthalmia, Camptodactyly of finger, Micrognathia ORPHA:1466
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb, Flared metaphysis, Hip... OMIM:610758
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Stevenson-Carey Syndrome
Hip dysplasia, Left superior vena cava draining to coronary sinus, Camptodactyly, Atrial septal d... OMIM:611961
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Repeated pneumothor... ORPHA:536467
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Sandal gap, Arachnodactyly, Thick lower lip vermilion, Wide mouth, Shor... OMIM:616938
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ... ORPHA:904
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly, Hepatosplenomegaly OMIM:618955
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... ORPHA:2876
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downt... OMIM:618974
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Accessory oral frenulu... OMIM:616546
Alg9-Cdg
Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Narrow great... ORPHA:79328
Nanophthalmos
Microphthalmia ORPHA:35612
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Abdom... OMIM:619123
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, High pala... OMIM:620184
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar de... ORPHA:1101
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:618804
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ... ORPHA:245
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Abnormality of the tong... ORPHA:2990
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... OMIM:620025
Lessel-Kreienkamp Syndrome
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, ... OMIM:619149
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Absent distal phalanges, Microphthalmia OMIM:619339
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Abnormal lung lobation, Tetraphocomelia, Hyp... OMIM:215140
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, Hypothyroidism, ... OMIM:610883
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Micrognathia OMIM:614120
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Metatarsus addu... ORPHA:2461
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi... OMIM:224410
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormality of the elbow, Slender long bone, Pulmonary hypoplasia, Abnormal hip bon... ORPHA:1486
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptor... OMIM:194350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Bilateral talipes equinovarus, Pulmonary hypoplasia OMIM:618174
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Micrognathia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Narrow m... OMIM:608013
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic fibrosis, Intestinal malrotation, Asplenia, Situs inversus totalis, Pancreatic cysts, ... OMIM:208540
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
3C Syndrome
Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve ... ORPHA:7
Pierpont Syndrome
Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Malar flat... ORPHA:487825
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thum... OMIM:105650
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Micrognathia, Cryptorchidism, Narrow palm, Retrognathia, Abnormal heart... ORPHA:352490
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia, Abnormality of the pulmonary artery ORPHA:1065
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia OMIM:119580
Pierpont Syndrome
Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger... OMIM:602342
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... OMIM:619135
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Ap... ORPHA:3305
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Diabetes mellitus, Sandal gap, Ventricular septal defect, Micrognathia,... OMIM:270450
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... OMIM:300400
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Cryptorchidism, Pat... ORPHA:3097
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Short hallux, Mi... OMIM:620305
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat... ORPHA:50945
Naxos Disease
Cardiomyopathy, Palmoplantar keratoderma, Cleft upper lip ORPHA:34217
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia... ORPHA:3191
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Micrognathia, Cubitus valgus, Camptodactyly, Microphthalmia OMIM:619694
Meckel Syndrome, Type 6
Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate... OMIM:612284
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial... ORPHA:1913
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma... OMIM:619720
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... OMIM:122470
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Ab... ORPHA:974
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Atrial septal de... OMIM:611134
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Short foot, Wide mouth, Median p... OMIM:619758
Anencephaly 2
Anophthalmia OMIM:619452
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Lambotte Syndrome
Preaxial foot polydactyly, Retrognathia, Ventricular septal defect OMIM:245552
Caudal Regression Syndrome
Maternal diabetes, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplas... ORPHA:3027
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... OMIM:214100
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Diabetes mellitus, Micrognathia, Secundum atrial septal defect, Long hallux, High ... OMIM:620194
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous ... ORPHA:250999
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... OMIM:611561
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin... ORPHA:2970
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse... ORPHA:476126
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Atrial septal defect, Fi... ORPHA:2911
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Prec... ORPHA:2588
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti... OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Downt... OMIM:615761
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia OMIM:606744
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Scapular winging, Ventricular septal defect, Single transverse palmar crease, ... OMIM:618870
Tetrasomy 9P
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac... ORPHA:3310
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... OMIM:108900
Nanophthalmos 4
Microphthalmia OMIM:615972
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Trisomy 4P
Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger ORPHA:1738
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Thin upper lip vermilion, Sandal gap, Single transverse p... OMIM:617061
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Muscular ventricul... ORPHA:363444
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Micrognathia, Short foot, S... ORPHA:264200
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syn... OMIM:256520
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Orofa... ORPHA:1752
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Tetrasomy 5P
Recurrent respiratory infections, Overlapping toe, Short hallux, Micrognathia, Long fingers, High... ORPHA:3309
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal... ORPHA:436003
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Preaxial hand polyda... OMIM:236680
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Micrognathia, Long fingers, Patent ductus arteriosus, Wide m... OMIM:615668
Acromelic Frontonasal Dysostosis
Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Preaxial polydactyly, Preax... OMIM:603671
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb ... OMIM:616730
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arterios... OMIM:220500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Microphthalmia, Camptodactyly of finger, Micrognathia ORPHA:48431
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Cleft palate, Pseudobulbar paralysis... OMIM:607371
Tarp Syndrome
Meckel diverticulum, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, ... OMIM:311900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Micrognathia, Tracheomalacia, Cryptorchidism, Patent duc... OMIM:217980
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mo... ORPHA:521308
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, 4-5 ... OMIM:164200
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Dysphagia, Atrial septal defect, Hypoplastic spleen, Paten... ORPHA:89844
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas... ORPHA:1234
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Ta... OMIM:158170
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, Retrognathia, Media... ORPHA:1832
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Arachnodactyly, Abnormality of the dentition, Aplasia/Hypoplasi... ORPHA:1548
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Atrial septal... ORPHA:280
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Rep... OMIM:617602
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Ect... OMIM:147950
Vici Syndrome
Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia... OMIM:242840
Craniofacioskeletal Syndrome
Atrial septal defect, Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Tr... OMIM:300712
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, S... OMIM:257920
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Cleft palate, Non-midline cleft lip ORPHA:2117
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Aplasia/Hypoplasia of the ... ORPHA:2145
X-Linked Mandibulofacial Dysostosis
Micrognathia, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Abnormal mitral valve morpholo... ORPHA:1131
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187600
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... OMIM:121050
Opitz Gbbb Syndrome
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectoureth... OMIM:300000
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... OMIM:210710
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Atrial sept... ORPHA:2637
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid... ORPHA:96149
Noonan Syndrome 11
Atrial septal defect, Thick vermilion border, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertr... OMIM:618499
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... ORPHA:1784
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodacty... OMIM:614846
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Thin upper lip vermilion, Tented upper lip vermilion, Single transverse pal... OMIM:620075
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Cryptorch... ORPHA:2473
Frontoocular Syndrome
Micrognathia, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect OMIM:605321
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe, Micrognathia OMIM:600118
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... OMIM:270400
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Cryptorchidism, Gastroesophageal reflux, Long philtrum, Atrial septal defect ORPHA:466926
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydactyly OMIM:616459
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, High palate, Atrial septal defect ORPHA:1035
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... OMIM:200980
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Postaxial hand po... OMIM:617088
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... OMIM:615009
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Increased mean pl... ORPHA:84064
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h... OMIM:265000
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Micrognathia, Deep philtrum, Recurrent pneumonia, Abnormal heart morp... ORPHA:314655
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Secundum atrial septal defect, Pi... OMIM:620183
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Bilate... OMIM:619708
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Oral-pharyngeal dysphagia, Tracheobronchomalacia, Pierre-Robin... OMIM:619184
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ring Chromosome 10 Syndrome
Microphthalmia, Micrognathia, Sandal gap, Tapered finger ORPHA:1438
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Diaphanospondylodysostosis
Missing ribs, Micrognathia, Cleft palate, Narrow pelvis bone, Hammertoe, Talipes equinovarus, Pul... OMIM:608022
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... OMIM:165590
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... OMIM:301043
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ... OMIM:610536
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Malar flattening, ... OMIM:268850
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long phil... ORPHA:1252
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Recurrent respiratory infections, Pancreatic fibrosis, Pancreatic cysts, ... OMIM:208500
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Stromme Syndrome
Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia, Micrognathia OMIM:243605
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothy... OMIM:601005
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Abdominal situs a... OMIM:617092
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Microg... OMIM:618348
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Carious teeth, Recurrent... OMIM:214150
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Cleft palate, Aplasia/Hypoplasia of the lungs, Halberd-shape... ORPHA:2635
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... ORPHA:1787
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Abnormal dental ename... ORPHA:2092
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... ORPHA:1507
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe, Shoulder flexion cont... OMIM:620369
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Single transverse palmar c... ORPHA:329224
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Raine Syndrome
Mandibular prognathia, Natal tooth, Bowing of the long bones, Micromelia, Micrognathia, Protrudin... OMIM:259775
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Abnormality of ... ORPHA:75389
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand polydactyly, Abn... ORPHA:250989
Martsolf Syndrome 1
Recurrent respiratory infections, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ul... OMIM:212720
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary... ORPHA:90322
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Down-sloping shoulder... OMIM:109400
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Th... OMIM:619103
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal... ORPHA:477817
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, Patent ductus arter... OMIM:614576
Nephronophthisis 15
Polydactyly OMIM:614845
Nance-Horan Syndrome
Mandibular prognathia, Microphthalmia, Short metacarpal, Supernumerary tooth ORPHA:627
Rapp-Hodgkin Syndrome
Syndactyly, Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Carious teeth, 2-3 to... OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Macroorchidism, Ventricular se... OMIM:309520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ... ORPHA:436252
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... ORPHA:3103
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Finger syndactyly, Atrial septal defect, Overlapping toe, Single transvers... ORPHA:464738
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Malar flatte... OMIM:607131
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Micrognathia, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, He... ORPHA:163649
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Tapered finger, Pericardial effusion, Micrognathia, Carious teeth, Multiple m... OMIM:620070
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal defect, Malar f... ORPHA:79113
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Pulmonary hypoplasia OMIM:255320
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... OMIM:620072
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... OMIM:609053
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Cat Eye Syndrome
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... OMIM:115470
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis... ORPHA:1300
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus to... OMIM:609008
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... OMIM:612289
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology, Cleft palate, Cleft upper lip ORPHA:398189
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis OMIM:612444
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Micrognathia OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Patent duc... ORPHA:1790
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Cryptorchidism, Velopharyng... OMIM:619314
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo... ORPHA:531151
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tap... OMIM:617452
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Trisomy 18
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Postaxial ... ORPHA:3380
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
White Forelock With Malformations
Finger syndactyly, Atrial septal defect, Deep philtrum, Clinodactyly of the 5th finger, Abnormal ... ORPHA:2475
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Splenomegaly, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs ORPHA:2204
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Micrognathia, Abnormality of the dentition, Recur... OMIM:618282
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... OMIM:620113
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Camptodactyly of finger, Microgna... ORPHA:1662
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Finger joint hyperm... OMIM:244200
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Esophageal atresia, Paten... ORPHA:1305
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic sinusitis, Bronchiectasis OMIM:614017
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short tibia OMIM:620306
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... ORPHA:457193
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Hypopl... ORPHA:93307
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Intestinal malrotation, Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia ORPHA:2973
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li... OMIM:615849
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta... OMIM:615539
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognath... OMIM:257850
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Immunodeficiency 9
Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upp... OMIM:100300
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Meckel Syndrome
Bowing of the long bones, Anophthalmia, Micrognathia, Situs inversus totalis, Preaxial hand polyd... ORPHA:564
Meckel Syndrome, Type 2
Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Wide mouth, Heterotaxy, Hip ... OMIM:618846
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Br... OMIM:608647
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short foot OMIM:607597
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Thin upper lip vermilion, Sandal gap, High, narrow palate, Patent ductus ar... OMIM:612863
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Dental malocclusion, Micro... OMIM:618727
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Matthew-Wood Syndrome
Microphthalmia, Abnormal lung morphology, Anophthalmia, Pulmonary hypoplasia ORPHA:2470
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial s... OMIM:312870
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor... ORPHA:1988
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Mitral va... ORPHA:500
Neu-Laxova Syndrome
Abnormality of the philtrum, Micromelia, Micrognathia, Trismus, Submucous cleft hard palate, Clef... ORPHA:2671
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Gastroe... ORPHA:93932
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Overlapping toe, Decreased response to growth hormone st... OMIM:213980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal thumb joint ... OMIM:613870
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Bicuspid aortic valve, Micrognathia, Cleft soft palate, Abnormality of ... OMIM:618529
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Single transverse... OMIM:247200
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Hypoplastic iliac wing, Patent... OMIM:263650
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Microgn... ORPHA:193
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Rocker ... OMIM:619951
Noonan Syndrome 13
U-Shaped upper lip vermilion, Overlapping toe, Tapered finger, Metatarsus adductus, Micrognathia,... OMIM:619087
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Missing rib... OMIM:206900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate, Micrognathia OMIM:601076
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Atrial septal defect, Cli... ORPHA:373
Nance-Horan Syndrome
Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped... OMIM:302350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Short philtrum, ... OMIM:301039
Even-Plus Syndrome
Epiphyseal dysplasia, High palate, Hypodontia, Atrial septal defect, Anal atresia, Patent foramen... OMIM:616854
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Recurrent respiratory infections, Abnormality of thyroid physiology, Postaxial p... OMIM:300968
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Deep philtrum, Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Long ... ORPHA:397709
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Metatarsus adductus, Hypoplasia of the maxilla, Hypothyr... ORPHA:293939
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Micrognathia, Postaxial ... OMIM:615948
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... OMIM:616894
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop... OMIM:616777
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Me... ORPHA:3186
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Deep philtrum, Patent du... OMIM:606003
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Optic nerve hypoplasia, Coxa valga, Postaxial hand... OMIM:301056
Holoprosencephaly
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia ... ORPHA:2162
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:609192
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Atrial septal defect, Hypothyro... OMIM:606170
Wiedemann-Steiner Syndrome
Atrial septal defect, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Microgna... OMIM:605130
Congenital Diaphragmatic Hernia
Intestinal malrotation, Pulmonary hypoplasia ORPHA:2140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... ORPHA:261190
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Anal stenosis, Malar prominence, Micrognathia... OMIM:251260
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hypoplasia of the... OMIM:200995
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Hand clenching, Micr... OMIM:616920
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transv... OMIM:609625
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Ventricular septal defect, Abnormality of the hand, Bilateral ... ORPHA:369891
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect OMIM:613730
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast... OMIM:117650
Adams-Oliver Syndrome 2
Single transverse palmar crease, Micrognathia, Absent distal phalanges, Short middle phalanx of f... OMIM:614219
Fanconi Anemia, Complementation Group F
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... OMIM:603467
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Micrognathia OMIM:253310
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... ORPHA:798
Tetraamelia Syndrome 1
Anal atresia, Micrognathia, Asplenia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft... OMIM:273395
Renal Agenesis
Pulmonary hypoplasia, Ventricular septal defect, Talipes equinovarus, Anal atresia ORPHA:411709
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Atrial septal defect, Sandal gap, Malar flattening, Long fingers, Patent ductus arterio... ORPHA:261279
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Chronic sinusitis, Bronchiectasis OMIM:616481
Thanatophoric Dysplasia Type 2
Micromelia, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Abno... ORPHA:93274
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... ORPHA:666
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Ventricular septal defect, Trac... ORPHA:79345
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Micrognathia, Shoulder dislocation, ... OMIM:245600
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Micrognathia, Cryptorchidism, Abnormal lung lobation, Orofacial cleft, Aplasia/Hypo... ORPHA:3301
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Gast... OMIM:194190
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Achondrogenesis Type 1B
Micromelia, Micrognathia, Short foot, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Long ... ORPHA:93298
Transaldolase Deficiency
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aorta, Atrial septal defect... ORPHA:101028
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ca... ORPHA:2791
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... OMIM:617137
Achondrogenesis Type 1A
Micromelia, Micrognathia, Short foot, Aplasia/Hypoplasia of the lungs, Short palm, Long philtrum ORPHA:93299
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Recurrent respiratory infections, Chronic sinusitis, Bronchiectasis OMIM:612650
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Cleft upper lip, Triceps aplasia, Patellar aplasia, Hyp... OMIM:161200
Trisomy 9P
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot... ORPHA:236
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abnormality of the hand, Dextr... ORPHA:536545
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Abnormal cerebral vascular morphology, Radia... ORPHA:2165
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Anophthalmia ORPHA:899
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Abnormal cardiac ventricle morph... ORPHA:261311
Mirror Movements 3
Situs inversus totalis OMIM:616059
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micro... ORPHA:83617
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Righ... OMIM:616028
Lissencephaly 8
Microphthalmia, Talipes equinovarus OMIM:617255
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, D... ORPHA:2209
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Mic... OMIM:614114
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... OMIM:178600
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow pala... OMIM:615102
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... OMIM:619121
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Atrial septa... OMIM:136140
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Hypoplasia of the thymu... OMIM:264090
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Po... OMIM:610829
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Increased serum testosterone ... ORPHA:96181
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia ORPHA:2260
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Short ... OMIM:614592
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia, Abnormal palmar dermatoglyphics, Hypoplasia of teeth ORPHA:2728
H Syndrome
Hallux valgus, Decreased testicular size, Diabetes mellitus, Microcytic anemia, Malabsorption, Re... ORPHA:168569
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Shortening of all... OMIM:614749
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Micrognathia, Pulmonary artery... ORPHA:251071
Renal Hypodysplasia/Aplasia 1
Retrognathia, Pulmonary hypoplasia, Talipes equinovarus OMIM:191830
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty... ORPHA:397590
Al Kaissi Syndrome
Thin upper lip vermilion, Macrodontia, High, narrow palate, Small hand, Deep palmar crease, Long ... OMIM:617694
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Recurrent... OMIM:616449
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, Micrognathia, Short palm, Atrial septal de... OMIM:249420
Alazami Syndrome
Wide mouth, Slender long bone, Widely spaced teeth, Short philtrum, Thick vermilion border, Atria... ORPHA:319671
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Joubert Syndrome 14
Ventricular septal defect, Postaxial polydactyly, Intracranial hemorrhage, Microphthalmia, Malar ... OMIM:614424
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Tetralogy of Fallot ORPHA:2316
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... OMIM:613808
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Thin upper lip vermilion, ... ORPHA:163979
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Bil... OMIM:617746
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Malar fl... OMIM:605627
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowding, Aplasia/Hy... OMIM:219000
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... ORPHA:991
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Coarctation of aorta, Submucous ... OMIM:301022
Congenital Toxoplasmosis
Microphthalmia, Cardiomegaly ORPHA:858
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Preco... ORPHA:254346
Acromelic Frontonasal Dysplasia
Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Wide mouth,... ORPHA:1827
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Cryptorchidism, Short toe, Deep philtrum, Patent ductus arteriosus, Widely... ORPHA:404443
Geleophysic Dysplasia 1
Short palm, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Short foot,... OMIM:231050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Arachnodactyly, Micrognathia, Mitral valve prolapse, Wide mouth, High palat... OMIM:300986
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thic... OMIM:611087
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Cranioectodermal Dysplasia 2
Micrognathia, Fused teeth, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, P... OMIM:613610
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla OMIM:167730
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia o... OMIM:180849
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, High palate, Atrial septal defect, Bilateral coxa valga, Patent foram... OMIM:615582
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Long philtrum, Micromelia, Micrognathia ORPHA:932
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... OMIM:261540
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Braddock Syndrome
Preaxial hand polydactyly, Missing ribs, Pulmonary fibrosis, Micrognathia ORPHA:52047
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... ORPHA:1297
Joubert Syndrome 23
Polydactyly OMIM:616490
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Dental malocclusion, Proximal placement of thumb OMIM:617883
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Patent ... OMIM:617159
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Cleft ... ORPHA:894
Feingold Syndrome Type 1
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n... ORPHA:391641
Kabuki Syndrome 2
Atrial septal defect, Natal tooth, Micrognathia, Lower lip pit, Hip dislocation, Dental malocclus... OMIM:300867
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... ORPHA:49827
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Limb Body Wall Complex
Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones... ORPHA:2369
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var... OMIM:619656
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cle... OMIM:619122
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease OMIM:619053
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Monosomy 18P
Carious teeth, Microphthalmia, Micrognathia, Brachydactyly ORPHA:1598
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip, Hypogonadism, Hypoplastic nipples, Tetraamelia OMIM:273400
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,... ORPHA:221120
Megalencephaly
Atrial septal defect, Macroorchidism, Genu valgum ORPHA:2477
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Aniridia, Camptodactyly of toe, Microphtha... ORPHA:251038
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... OMIM:228520
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Buphthalmos, Limb undergrowth, R... OMIM:618005
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Meckel Syndrome, Type 7
Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosplenomegaly, Postaxial... OMIM:267010
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Abnormal heart morphology, Hip dysplasia, Microphthalmia ORPHA:494344
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ... OMIM:201180
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe... ORPHA:769
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Refsum Disease
Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Microphthalmia ORPHA:773
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi... ORPHA:3348
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Tented upper lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Diabetes insipidus ORPHA:500533
Arterial Tortuosity Syndrome
Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia... ORPHA:3342
Noonan Syndrome 5
Mandibular prognathia, Cryptorchidism, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atr... OMIM:611553
Apert Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect... OMIM:101200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Varicose veins, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Distal Deletion 6P
Atrial septal defect, Micrognathia, Abnormality of the dentition, Orofacial cleft, Short foot, Do... ORPHA:96125
Peters Plus Syndrome
Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely sp... ORPHA:709
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Syndactyly, Persistence of ... ORPHA:97360
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, Orofacial cleft, High palate, Gastroesophageal ref... OMIM:607872
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Restrictive Dermopathy 1
Natal tooth, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Narrow mouth, Patent ductus ar... OMIM:275210
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis OMIM:616629
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Camptodactyly, Atrial septal defect,... ORPHA:459061
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Respiratory tract infection, Abnormal heart morphology, Polydactyly, Che... ORPHA:93400
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Gastroesophageal reflux, Advanced eruption... ORPHA:828
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial septal defect, P... OMIM:139210
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... ORPHA:93271
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Microphthalmia, Overlapping toe, Abnormal heart morphology OMIM:618571
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Preaxial hand po... ORPHA:96179
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation o... OMIM:618162
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Pyloric stenosis, Dextrocardia ORPHA:1571
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of ... ORPHA:1292
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Dysphagia, Adducted thumb ORPHA:171430
Joubert Syndrome 16
Polydactyly OMIM:614465
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, High palate, Phocomelia, Short metacarpal, Cryptorchidism, Humer... ORPHA:3404
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleura... OMIM:615355
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Contracture of the proximal ... OMIM:618109
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:620211
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia... OMIM:614857
Hurler-Scheie Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Micrognathia, Thenar muscle atrophy, C... OMIM:607015
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Prominent superficial veins, Micrognathia, Hypoplasia o... OMIM:601812
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Rocker bottom foot, Decreased response to growth ho... ORPHA:363528
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... OMIM:208150
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, Cleft upper l... OMIM:304110
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia OMIM:617306
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Congenital h... OMIM:601427
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion b... OMIM:619869
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Gastroesophageal reflux, Short ph... ORPHA:2044
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplas... ORPHA:306542
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Atrial septal defect, Micr... OMIM:613458
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... ORPHA:141099
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy ORPHA:335
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Tented upper lip vermilion, Overlapping toe, High palate, Thick... OMIM:619383
Hardikar Syndrome
Atrial septal defect, Patent foramen ovale, Cleft soft palate, Pulmonary artery stenosis, Partial... OMIM:301068
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Gastroesophageal reflux, Atrial septal defect, Patent fo... ORPHA:280633
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Bile duct proliferation, Po... OMIM:607361
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Talipes equinovarus, Short distal p... ORPHA:86822
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Narrow mouth, Downtu... OMIM:617360
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Distal Deletion 10Q
Smooth philtrum, Atrial septal defect, Scapular winging, Thin upper lip vermilion, Sandal gap, Si... ORPHA:96148
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary... ORPHA:90321
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum... OMIM:618901
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Re... ORPHA:906
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Micrognathia, Long fingers, Varicose veins, Bilateral talipes equinovarus, Tal... OMIM:618343
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Broad thumb, Short clavicles, Venous malformation ORPHA:60015
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Cleft upper lip, Cryptorchidism, Hip disloc... OMIM:265050
Fanconi Anemia, Complementation Group Q
Absent thumb, Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Bone marro... OMIM:615272
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Smooth philtrum, Thin upper lip vermilion, Dental crowd... ORPHA:261323
Bresek Syndrome
Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia ORPHA:85284
Joubert Syndrome 27
Polydactyly OMIM:617120
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Atrial septal defect, Recurrent respiratory infections, Ventricular septal de... ORPHA:3047
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cl... OMIM:601701
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy OMIM:618805
Mend Syndrome
Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly, Abnormal heart mor... ORPHA:401973
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly OMIM:619185
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia OMIM:619699
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal... OMIM:601707
Noonan Syndrome 7
Deep palmar crease, Impaired oropharyngeal swallow response, Thick vermilion border, Pulmonic ste... OMIM:613706
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Abnor... ORPHA:33001
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... OMIM:236700
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Short ribs, Atri... ORPHA:2519
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Absent frontal sinuses, Asplenia, Bronchiectasis,... OMIM:244400
Pallister-Hall Syndrome
Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal defect, Atriov... ORPHA:672
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Taurodontia, High palate, Pulmonic stenosis, Widely spa... OMIM:618205
Pai Syndrome
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology ORPHA:1993
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos OMIM:619318
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Hypoplasia of the maxilla, Patent ductus ... ORPHA:251061
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Venous malformation OMIM:176920
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect, Micrognathia OMIM:243440
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Leopard Syndrome 1
Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Delayed menarche, ... OMIM:151100
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Metaphyseal widening, Re... OMIM:617303
Gracile Bone Dysplasia
Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... ORPHA:457279
Baraitser-Winter Syndrome 2
Microphthalmia, Retrognathia OMIM:614583
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, Aplasia/Hypoplasia of the lung... ORPHA:2570
Fraser Syndrome
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Cryptorchidis... ORPHA:2052
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Macrodactyly, Venous malformation OMIM:613089
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Sotos Syndrome
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal def... OMIM:117550
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Diabetes mellitus, Aganglionic megacolon, Dental crowding,... OMIM:209900
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Bronchiectasis, Acute lymphoblastic leukemia, ... OMIM:208900
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Foot polydactyly ORPHA:210548
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Splenomegaly, Sphe... ORPHA:251066
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Gastroesophageal refl... OMIM:620186
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Precocious... ORPHA:369837
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Dilated cardiomyopathy, Mitral val... ORPHA:2556
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... OMIM:614175
Mend Syndrome
Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly,... OMIM:300960
Monosomy 18Q
Mandibular prognathia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral ... ORPHA:1600
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Bilateral microphthalmos, Recurrent upper respiratory tract infections... ORPHA:2399
Craniofacial Microsomia 1
Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Partial duplica... OMIM:164210
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Degcags Syndrome
Micrognathia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroe... OMIM:619488
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Abnormal heart valve morphology, Denta... ORPHA:230851
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect... OMIM:605275
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narrow palate, Rec... OMIM:309800
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contr... OMIM:268300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Mitral valve prolapse, Malar flattening, Enamel hypoplasia, Adducted t... OMIM:618874
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mo... OMIM:617666
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Missing ribs, Precocious puberty, Hiatus hern... ORPHA:50
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Hypochromic ... ORPHA:96123
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Ulnar deviation of the hand, Micrognathia, Talipes equinovarus, Pulmona... OMIM:616503
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Hypothyroidism OMIM:301058
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Absent thumb OMIM:617244
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Jacobsen Syndrome
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Micrognathia, ... OMIM:147791
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal bronchus morphology, Tracheal stenosis, Bowing of the legs, Delayed epiphyseal ossificat... ORPHA:93352
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... ORPHA:124
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Retrognathia, Interrupted aortic arch, Unilat... OMIM:192430
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Atelis Syndrome 2
Single transverse palmar crease, Micrognathia, Patent ductus arteriosus, Supravalvar pulmonary st... OMIM:620185
Frontorhiny
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Finger clinodact... ORPHA:391474
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Small hand, Short foot, Short palm, Microphthalmia OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Retrognathia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, T... OMIM:615879
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... OMIM:207410
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Mic... OMIM:619297
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Aplasia/Hypoplasia o... ORPHA:2167
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Thin upper lip vermilion, Congenital hip dislocation, Long palm, Single tra... OMIM:244450
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... ORPHA:508533
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna... OMIM:601803
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Broad hallux, Single transverse palmar crease OMIM:614105
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Micrognathia, M... OMIM:258315
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Short hallux, Prematu... OMIM:245150
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... OMIM:119500
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Intestinal malrotation, Cryptorch... ORPHA:2166
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Patent ductus arteriosus, Hypoplastic cervical vertebrae, Cl... OMIM:616364
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Postaxial polydactyly... OMIM:618460
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... OMIM:616362
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, Widely spa... OMIM:301044
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Noonan Syndrome 4
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion borde... OMIM:610733
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Micrognathia, Hip di... OMIM:613884
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Micrognathia, Cryptorchi... ORPHA:52
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu... OMIM:149730
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... OMIM:619471
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Neutropenia, Short palm, Rhizomelia, Gin... ORPHA:175
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, E... ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Houge-Janssens Syndrome 3
Single transverse palmar crease, Muscular ventricular septal defect, High palate, Short philtrum,... OMIM:618354
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis... OMIM:617660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... OMIM:602450
Chops Syndrome
Ventricular septal defect, Cryptorchidism, Splenomegaly, High, narrow palate, Patent ductus arter... OMIM:616368
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Single tra... OMIM:300707
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... ORPHA:353277
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion ORPHA:2526
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... ORPHA:167635
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... OMIM:602535
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... OMIM:620098
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p... OMIM:300967
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Hip dislocation, Coarctation of aorta, Camptodactyly, Microphthalmia OMIM:617729
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
3Q29 Microdeletion Syndrome
Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Clinodactyly of the 5th fi... ORPHA:65286
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Atypical Werner Syndrome
Premature arteriosclerosis, Prominent superficial veins, Rocker bottom foot, Abnormal cerebral va... ORPHA:79474
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Tracheal stenosi... OMIM:617809
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Microph... ORPHA:284160
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Shortening of all... OMIM:614207
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Renpenning Syndrome 1
Mandibular prognathia, Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect,... OMIM:309500
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... ORPHA:42775
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Mandibular aplasia, Narrow mouth ORPHA:990
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia, Complete dup... OMIM:600901
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arter... OMIM:617190
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, High... OMIM:617402
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Tooth agenesis, Non-midline cleft lip, Hip dislocation, Bilateral cleft lip and palate ORPHA:2003
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Micrognathia, Biliary ... ORPHA:731
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Senior-Loken Syndrome 8
Polydactyly, Vascular dilatation OMIM:616307
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Hi... ORPHA:453499
Marfan Syndrome
Pulmonary artery dilatation, Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Lim... ORPHA:558
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral... OMIM:616564
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Hip dysplasia, Atrial se... OMIM:208085
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Micrognathia, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic... ORPHA:1052
Mogs-Cdg
Cardiomegaly, Thrombocytopenia, Retrognathia, Hepatosplenomegaly, Hydrocele testis, High palate, ... ORPHA:79330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix, Pulmonary hypoplasia OMIM:263200
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:352665
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth ORPHA:2250
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Microphthalmia, Absent palmar crease OMIM:614230
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, S... OMIM:620076
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morpholo... ORPHA:568
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Cryptorchidism, Dilated cardiomyopathy, Normochromic microcytic ane... OMIM:610198
Choanal Atresia
Recurrent respiratory infections, Chronic sinusitis, Polydactyly ORPHA:137914
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia OMIM:614222
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Short toe, Pa... ORPHA:1519
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia, Complete dup... OMIM:227650
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... OMIM:300990
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Atrial septal defect, Microretrognathia, Toe syndactyly, Ventricular septa... ORPHA:459070
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Hartsfield Syndrome
Syndactyly, Median cleft lip, Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Cleft pal... OMIM:615465
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Hemolytic anemia, Recurrent respiratory infections, Autoimmun... ORPHA:647
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... ORPHA:1329
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bronchomalacia, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Pulmonary hypo... OMIM:619351
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Atrial septal defect, Patent ductus arteriosus, Malar flattening OMIM:602482
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Tapered finger, Micrognathia, Patent ductus arteriosus, Small hand, Hip dysplas... OMIM:620005
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bila... ORPHA:1236
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Hip dysplasia, Microphth... OMIM:300895
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, High, ... ORPHA:1439
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Semilobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hepatoblastoma, C... ORPHA:1465
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Small cervical vertebral bodies, Abnormal acetabulum morphology... ORPHA:397715
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Talipes equinovarus OMIM:601389
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Marfan Syndrome
Bicuspid aortic valve, Equinus calcaneus, Micrognathia, Increased axial length of the globe, Hypo... OMIM:154700
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Absent radius, Preaxial han... ORPHA:233
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Abnormality of the upper limb, Intracranial hem... ORPHA:624
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Long fingers, Micrognathia OMIM:156610
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short... OMIM:268400
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Narr... OMIM:619268
Joubert Syndrome 21
Short ribs, Anophthalmia, Chronic sinusitis, Pulmonary hypoplasia OMIM:615636
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Mitral valve... OMIM:175050
Arboleda-Tham Syndrome
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner... OMIM:616268
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Atrial septal defec... OMIM:309801
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Atrial septal defect, Micrognathia, Open bite, Splenomeg... OMIM:115150
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Upper limb asymmetry, Micrognathia ORPHA:2505
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Atrial... OMIM:304120
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... ORPHA:466791
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Joubert Syndrome 39
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Gastroesophageal reflux, Joint contracture of the 5th finger, Sh... ORPHA:363611
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Recurrent respiratory infections, Short femur, Patent ductus arteriosus, Orofacial... ORPHA:17
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Hip dislocation, Elbow flexion contracture, Mitral valve prolapse, Congenita... ORPHA:1900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... ORPHA:268261
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... OMIM:617300
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V... ORPHA:209905
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Intestinal lymphangiectasia, Hydrocele testis, Varicose veins, Gastro... OMIM:616843
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... OMIM:619472
Warburg Micro Syndrome 2
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe OMIM:614225
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ... ORPHA:480880
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Dental malocclusion, Femoral bowing, Large h... ORPHA:2563
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Cl... ORPHA:364577
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyng... ORPHA:404448
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Microphthalmia OMIM:152950
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Anterior pituitary hypo... ORPHA:464306
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete dup... OMIM:227645
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... ORPHA:2255
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ... ORPHA:90307
Monosomy 9Q22.3
Delayed eruption of teeth, Palmar pits, Cardiac fibroma, Polydactyly, Microphthalmia ORPHA:77301
Spondyloocular Syndrome
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Unilateral cryptorchidism, Duodenal ul... OMIM:605822
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Dou... OMIM:614886
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short t... OMIM:113620
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Abnormality of the upper limb, Arteriovenous malform... ORPHA:83454
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation, Upper limb asymmetry ORPHA:137608
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Tracheomala... ORPHA:96121
Frontofacionasal Dysplasia
Non-midline cleft lip, Cleft palate ORPHA:1791
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Micrognathia, Chylothorax, Talipes equinovarus OMIM:619036
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Cryptorchidism, Triangular mouth, Cleft palate, Short sternum, Pulmonic stenosis, L... OMIM:257300
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature ORPHA:284227
Cerebrofaciothoracic Dysplasia
Broad philtrum, Wide mouth, Cleft palate, Cleft upper lip ORPHA:1394
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Calcaneovalgus deformity, Abnormality of the pulmon... ORPHA:261537
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... ORPHA:1587
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Dental ... OMIM:616580
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Galloway-Mowat Syndrome 1
Micrognathia, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microph... OMIM:251300
Townes-Brocks Syndrome
Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Abnormal pulmonary valve morphology, ... ORPHA:857
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Deep philtr... OMIM:617506
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, Short finger, Microphthalmia, ... OMIM:601552
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Aicardi Syndrome
Prominence of the premaxilla, Proximal placement of thumb, Missing ribs, Precocious puberty, Hiat... OMIM:304050
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Foot polydactyly, Abnorm... ORPHA:276280
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Premature pubarche, Thin upper lip vermilion, Precocious pubert... ORPHA:398069
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hip dysplasia, Cli... OMIM:616975
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, High palate, Sh... OMIM:135900
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Decreased proportion of naive T cel... ORPHA:83471
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Atrial septal defect, Broad hall... ORPHA:353281
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Clef... OMIM:610828
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Arterial tortuosity, Micrognathia, Emphysema, Aorti... OMIM:614437
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Joubert Syndrome 3
Atrial septal defect, Open mouth OMIM:608629
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Mi... OMIM:163950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Atrial septal defect, Congenital hip dislocation, Exaggerated cupid's bow,... OMIM:619512
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Clapo Syndrome
Venous malformation, Varicose veins, Macrodactyly, Hemihypertrophy of upper limb ORPHA:168984
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Calcaneovalgus deformity, Abnormality of the pulmon... ORPHA:261552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... ORPHA:391487
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Natal tooth, Abnormality of the hand, Micrognathia, Metaphyseal... OMIM:234100
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections, Hypothyroidism ORPHA:2321
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Elbow flexion contracture, Hip dislocation, Distal upper ... ORPHA:70
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Abnormal morphology o... ORPHA:1340
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Pne... OMIM:102700
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Trichothiodystrophy 3, Photosensitive
Carious teeth, Microphthalmia, Natal tooth OMIM:616395
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... OMIM:300952
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Situs inversus totalis, Narrow mouth, Sma... ORPHA:1449
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron... ORPHA:1667
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Short ribs, Anal atresia, Missing ribs OMIM:271520
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Supernumerary tooth, Small hand, Short foot, Short ribs, Clinodactyly ... ORPHA:2108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Micrognathia, Cryptorchidism, Cleft palate, Anal atresia OMIM:236670
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Abnormality of the denti... OMIM:617140
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retrognathia, Optic nerve hypoplasia, Adducted thumb OMIM:614643
Holoprosencephaly 4
Median cleft lip, Median cleft lip and palate OMIM:142946
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Micr... OMIM:619127
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Abnormal heart morp... ORPHA:505248
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hypoplastic aortic arch, Hip dysplas... ORPHA:457284
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus herni... OMIM:601776
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, ... ORPHA:199
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow... ORPHA:1051
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastroi... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastroi... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastroi... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastroi... ORPHA:881
Kabuki Syndrome 1
Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Atrial septal defect,... OMIM:147920
Dpagt1-Cdg
Arachnodactyly, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia, Camptodactyly... ORPHA:86309
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Pneumothorax, Hip dislocation, Ascending tubular aorta aneurysm, Hip dys... OMIM:617403
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Bronchomalacia, Limited elbow... OMIM:218040
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cr... OMIM:614866
Unilateral Ocular Duplication
Median cleft lip, Cleft palate ORPHA:3374
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Hepatoblastoma, Wide distal fem... OMIM:269150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Anteriorly pl... ORPHA:26793
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Micrognathia, Preaxial hand polydactyly, Abnormal hip... ORPHA:261318
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor... ORPHA:464
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee... OMIM:223370
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Micrognathia, Long fingers, Carious teeth, 2-3 toe syndactyly, Short palm, Clinod... OMIM:616734
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... OMIM:609942
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... OMIM:610682
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... ORPHA:99106
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal tibia morphology, Genu valgum, Abnor... ORPHA:363700
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Joubert Syndrome 2
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly OMIM:608091
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Cleft palate, Cleft upper lip OMIM:613150
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Granulomatosis With Polyangiitis
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Oral ulcer, Granulomatosi... OMIM:608710
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Venous malformation OMIM:612918
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology ORPHA:33276
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Recurrent b... ORPHA:33364
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d... OMIM:157800
Monosomy 9P
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda... ORPHA:261112
Rodrigues Blindness
Microphthalmia OMIM:268320
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Mitral valve prolapse, D... ORPHA:137605
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Lymphatic Malformation 13
Patent ductus arteriosus, Hydrocele testis, Long philtrum, Atrial septal defect, Patent foramen o... OMIM:620244
Micro Syndrome
Microphthalmia, Micrognathia ORPHA:2510
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Micrognathia, Microdontia, Patent ductus arteriosus, Pierre-Robin sequence, Elbo... OMIM:300868
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Occipital Horn Syndrome
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... ORPHA:198
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Recurrent respiratory infections ORPHA:1806
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Clinodactyly of the 5... ORPHA:744
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Stroke-like episode, Microphthalmia, Congenital aphakia,... ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, Gastroesophageal reflux, High palate... OMIM:300896
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... ORPHA:93325
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone OMIM:229400
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... OMIM:130050
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Gastroesophageal reflux, Bilater... ORPHA:522077
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Menkes Disease
Bowing of the long bones, Tarsal synostosis, Micrognathia, Venous insufficiency, Arterial stenosi... ORPHA:565
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, Metap... ORPHA:99646
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Microphthalmia,... ORPHA:90324
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Diphallia
Abnormality of the gastrointestinal tract, Duplicated colon, Rectoperineal fistula, Absent thumb,... ORPHA:227
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ductus arter... OMIM:613355
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Atrial septa... ORPHA:438213
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Patent ductus ... OMIM:600268
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Ivo... OMIM:133540
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Retrognathia, Thrombocytopenia ORPHA:457351
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Macular hypoplasia, Right atrial enlargement OMIM:615219
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Asplenia, Cleft hard palate, Gastr... ORPHA:2152
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downturned cor... ORPHA:500150
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Retrognathia OMIM:601675
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Tape... OMIM:619522
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Abnormal dent... ORPHA:534
Witteveen-Kolk Syndrome
Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... OMIM:613406
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Early onset of sexual maturation, Gastroesophageal reflux... OMIM:194050
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Atrial sept... OMIM:243800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Cryptorchidism, Deep palmar crease, High palate, Pulmonic stenosis, At... OMIM:607721
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb ORPHA:2211
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Aortic root aneurysm, Type II diabetes mellitus, Delayed puberty, At... OMIM:618891
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, 4-5 fi... ORPHA:468631
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste... OMIM:118450
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... OMIM:187300
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... ORPHA:699
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... OMIM:620024
Holoprosencephaly 2
Median cleft lip and palate, Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard ... OMIM:157170
Treacher Collins Syndrome 1
Malar flattening, Bilateral microphthalmos, Micrognathia, Abnormal heart morphology OMIM:154500
Cockayne Syndrome
Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Retinal arteriolar constri... ORPHA:191
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... OMIM:309000
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing en... OMIM:619991
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonary window, Abnormal he... ORPHA:97214
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone ORPHA:1134
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Paranasal sinus hypoplasia, Dental malocclusion, Hypoplasia of teeth OMIM:603457
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Livedoid Vasculopathy
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke ORPHA:542643
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Delayed eruption of teeth OMIM:308300
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Papillorenal Syndrome
Microphthalmia OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Foix-Alajouanine Syndrome
Arteriovenous fistula, Venous malformation ORPHA:79093
Sotos Syndrome
No permanent dentition, Gastroesophageal reflux, Atrial septal defect, Hypothyroidism, Cryptorchi... ORPHA:821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Malar flattening OMIM:253280
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Holoprosencephaly 1
Microphthalmia, Single ventricle OMIM:236100
Norrie Disease
Aplasia/Hypoplasia of the lens, Venous insufficiency, Hypoplasia of the iris, Microphthalmia, Mal... ORPHA:649
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Recurrent upper respiratory tr... OMIM:308205
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hypoplasia ... OMIM:175780
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Hypermobile Ehlers-Danlos Syndrome
Elbow dislocation, Venous insufficiency, Hip dislocation, Ascending tubular aorta aneurysm, Arter... ORPHA:285
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation OMIM:606721

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cplane2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cplane2.

No publications found that use IMPC mice or data for Cplane2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cplane2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cplane2tm48278(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cplane2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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