Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... |
OMIM:217085 |
Cardioacrofacial Dysplasia 2 |
|
Clinodactyly of the 5th finger, Atrioventricular canal defect, Left superior vena cava draining t... |
OMIM:619143 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Hypotel... |
OMIM:264480 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... |
OMIM:314390 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... |
OMIM:619343 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Split foot, Congenital megaureter, Mi... |
ORPHA:2437 |
17Q12 Microduplication Syndrome |
|
Deeply set eye, Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Finger syndactyly,... |
ORPHA:261272 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... |
OMIM:619142 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation... |
OMIM:306955 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Encephalocele, Holoprosencephaly, Micrognathia, Micromelia, Anenceph... |
ORPHA:1908 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Meier-Gorlin Syndrome 7 |
|
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Cleft pa... |
OMIM:617063 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Micrognathia, Coronary-pulmonary artery fistula, Patent foramen ovale, Hypertelorism |
OMIM:619699 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Bronchomalacia, Hypertelorism, Aplasia/Hypoplasia... |
OMIM:277740 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Hypotelorism, Atrial septal defect, Tetralogy of Fallot, Pulmonary art... |
OMIM:612946 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Hypotelorism, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... |
ORPHA:3469 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hypotelorism, Deeply set eye, Patent ductus arteriosus, Clinodactyly, Hydronephros... |
ORPHA:251046 |
Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... |
OMIM:190685 |
Ellis-Van Creveld Syndrome |
|
Acetabular spurs, Atrial septal defect, Talipes equinovarus, Short ribs, Cone-shaped epiphyses of... |
OMIM:225500 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... |
ORPHA:2538 |
Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Abnormal lung lobation, Postaxial hand polydactyl... |
ORPHA:945 |
Distal Monosomy 13Q |
|
Abnormal cardiac septum morphology, Anal atresia, Encephalocele, Holoprosencephaly, Abnormality o... |
ORPHA:1590 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Encephalocele, Holoprosencephaly, Micromelia, Brachydactyly,... |
ORPHA:93274 |
Tonne-Kalscheuer Syndrome |
|
Hypotelorism, Velopharyngeal insufficiency, Malar flattening, Micropenis, Micrognathia, Hypospadi... |
OMIM:300978 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Duodenal atresia, Absent thumb, Micropenis, Tracheoesophageal fistula, Coarctation... |
OMIM:300514 |
Acces Syndrome |
|
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Retrognathia, Tracheoesophageal fistula... |
OMIM:619959 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short ti... |
OMIM:617925 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Hypotelorism, Ventricular ... |
OMIM:618974 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Anal atresia, Hypoplasia of penis, Cleft palate, Preaxial han... |
ORPHA:887 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Short Stature-Micrognathia Syndrome |
|
High palate, 2-3 toe syndactyly, Hypotelorism, Cleft palate, Micropenis, Retrognathia, Metaphysea... |
OMIM:617164 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Long fingers, Ventricular septal defect, Dextro... |
OMIM:614294 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality of... |
ORPHA:476126 |
Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Esophage... |
ORPHA:1923 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Malar f... |
ORPHA:1388 |
Hamamy Syndrome |
|
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Atrial septal defect, Short 2nd... |
OMIM:611174 |
Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelence... |
OMIM:609637 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Hypertelorism, Tracheomalacia, Micrognathia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:268249 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Hypotelorism, Brachydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:193530 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hypospadias, 11... |
ORPHA:77298 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal defect, Aortic valve ... |
ORPHA:210122 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Deeply set eye, Adducted thumb, Holoprosencephaly, Micrognathia, Camptodactyly of finger, Abnorma... |
ORPHA:2570 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Hydrocephalus, Hypertelorism, Gastroesophageal reflux, Morphological abnormality of... |
ORPHA:1834 |
Rhombencephalosynapsis |
|
Anal atresia, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Polydactyly, Short pha... |
ORPHA:59315 |
Meckel Syndrome 14 |
|
Microretrognathia, Postaxial polydactyly, Holoprosencephaly, Single ventricle, Retrognathia, Micr... |
OMIM:619879 |
Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Hypotelorism, Microretrognathia, Cleft palate, Congenital megaureter... |
ORPHA:261344 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Hypotelorism, Genu varum, Patent ductus arteriosus, Bowing of the long bones, Coarse metaphyseal ... |
ORPHA:1952 |
Triploidy |
|
Abnormal cardiac septum morphology, Hydrocephalus, Hypoplasia of penis, Cleft palate, Holoprosenc... |
ORPHA:3376 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal heart morphology |
ORPHA:1445 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Micrognathia, Hematochezia, Postaxial hand polydactyly, Common atrium, Postaxi... |
ORPHA:96168 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Trisomy 13 |
|
Ectrodactyly, Deeply set eye, Atrial septal defect, Hypotelorism, Malar flattening, Cleft palate,... |
ORPHA:3378 |
Congenital Contractural Arachnodactyly |
|
High palate, Duodenal atresia, Arachnodactyly, Tracheoesophageal fistula, Camptodactyly of finger... |
ORPHA:115 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Cone-shaped epiphysis, A... |
ORPHA:2511 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Semilobar holoprosencephaly, Hypertelorism, Preaxial foo... |
OMIM:245552 |
Congenital Tracheomalacia |
|
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... |
ORPHA:95430 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, High palate, Hypotelorism, Hand oligodactyly, Absent thumb, Hypop... |
OMIM:602418 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Clinodactyly of the 5th finger, High palate, Hypotelorism |
OMIM:314320 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal tracheobron... |
ORPHA:141127 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypotelorism, Hypoplastic left heart, Micrognathia, B... |
ORPHA:2209 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypotelorism, Cleft palate, Veloph... |
OMIM:614701 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Hypotelorism, High palate, Fifth finger distal phalanx clinodactyly |
ORPHA:3369 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Micromelia, Finger clinodactyly, Ventricular septal defect, Horseshoe ... |
ORPHA:99776 |
Fanconi Anemia |
|
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Abnormality of femur... |
ORPHA:84 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... |
OMIM:618142 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Anal atresia, Rectoperineal ... |
OMIM:107480 |
Frontoocular Syndrome |
|
High palate, Hypotelorism, Atrial septal defect, Pulmonic stenosis, Micrognathia, Proptosis |
OMIM:605321 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Split foot, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601348 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Tracheomalacia, Micrognathia, Sit... |
OMIM:202650 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Malar flattening, Apla... |
ORPHA:52056 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Hypoplasia of penis,... |
ORPHA:3082 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Hypotelorism, Absent thumb, Micropenis, Partial duplication of thumb phalanx, Abse... |
OMIM:227646 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Short femur, Amelia, Anterior encephalocele, Ventricular septal defect, Bilate... |
OMIM:601357 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Holoprosencephaly, Radial club hand, Abnormal morphology of the radius, Proptosis, ... |
ORPHA:2165 |
Pallister-Hall Syndrome |
|
Cleft palate, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed anus, Distal sho... |
OMIM:146510 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Hypotelorism, Cleft palate, Atrioventricular canal defect, Pulmon... |
OMIM:619123 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Short thumb,... |
ORPHA:401935 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Hypospadias, Proximal tibial hypoplasia, Anencep... |
OMIM:236680 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Deeply... |
OMIM:618454 |
Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Communicating hydrocephalus, Tetralogy of Fallot, Ventri... |
ORPHA:1780 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Deeply set eye, Talipes equinovarus, Hypotelorism, Cleft palate, Holoprosencephaly, ... |
OMIM:612530 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cleft lip and pal... |
OMIM:269860 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Ven... |
ORPHA:7 |
Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... |
ORPHA:2745 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... |
ORPHA:1515 |
Baller-Gerold Syndrome |
|
High palate, Abnormal cardiac septum morphology, Anal atresia, Hypotelorism, Malabsorption, Hand ... |
ORPHA:1225 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... |
OMIM:220210 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Tracheoesophageal fistula, Tracheal stenosis, Intestinal atresia |
ORPHA:93941 |
Distal Monosomy 10Q |
|
High palate, Prominent fingertip pads, Cleft palate, Tapered finger, Single transverse palmar cre... |
ORPHA:96148 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Hypotelorism, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Campt... |
OMIM:601016 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia of the radius, Micrognathia... |
ORPHA:958 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Hypotelorism, Hypoplasia of the premaxilla, An... |
ORPHA:2166 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Overlapping toe, Hydrocephalus, Hypotelorism, Talipes equinovarus, Adducted thumb, M... |
OMIM:617822 |
Endocrine-Cerebroosteodysplasia |
|
Ulnar deviation of the hand, Hydrocephalus, Malar flattening, Postaxial polydactyly, Preaxial pol... |
OMIM:612651 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hypotelorism, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Brachydactyly, Slender ... |
OMIM:211920 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Deeply set eye, Hypotelor... |
OMIM:614114 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Deeply set eye, Atrial septal defect, Hypospadias... |
OMIM:618316 |
Distal Monosomy 7Q36 |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Micrognathi... |
ORPHA:1636 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Hypotelorism, Malar flattening, Abnormality of the hand, Micrognathia, Ulnar deviati... |
ORPHA:1387 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Patent ductus arterio... |
OMIM:620024 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Hypoplasia of the max... |
ORPHA:439822 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Tricuspid valve prolapse, Hypotelorism, Microretrognathia, Atrioventricular canal defect, Arachno... |
ORPHA:276413 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Deeply set eye, Hypotelorism, Malar flattening, Small hand, Taper... |
OMIM:618672 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Clinodactyly of the 5th finger, Atrial septal defect, Retrognathia, Trac... |
OMIM:301030 |
Esophageal Atresia |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... |
ORPHA:1199 |
Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Encephalocele, Sp... |
ORPHA:63862 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophag... |
OMIM:619534 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Abn... |
OMIM:249670 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx, Short middle... |
OMIM:617926 |
Acrootoocular Syndrome |
|
Dental malocclusion, Short toe, Decreased palmar creases, Hypotelorism, Abnormal finger flexion c... |
ORPHA:2980 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Gastroesophageal reflux, Atri... |
OMIM:600123 |
49,Xxxxy Syndrome |
|
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Coxa valg... |
ORPHA:96264 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Tracheoesophag... |
ORPHA:3068 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short toe, Holoprosencephaly, Micropenis, Brachydactyly, Tapered finger, Short finger |
OMIM:610680 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Syndactyly, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal cys... |
OMIM:228940 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Retrognathia, Tracheoesophageal fistula, Un... |
OMIM:619227 |
Braddock Syndrome |
|
Hypotelorism, Unilateral renal agenesis, Micrognathia, Missing ribs, Pulmonary fibrosis, Preaxial... |
ORPHA:52047 |
Smith-Lemli-Opitz Syndrome |
|
Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviation of finge... |
ORPHA:818 |
Bardet-Biedl Syndrome 7 |
|
Deeply set eye, 2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Polydactyly, Clinoda... |
OMIM:615984 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Deeply set eye, Toe clinodactyly, Micrognathia, Ventricular septal defect, Patent du... |
ORPHA:261120 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Cleft palate, Tracheomalacia, Retrognathia, Micrognathia, Bifid uvula, Tetr... |
OMIM:612561 |
Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger, Holoprosencephaly |
OMIM:300706 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypotelorism, Syndactyly, Clinodactyly |
OMIM:619091 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, High, narrow palate, Hand oligoda... |
ORPHA:2879 |
Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
Trisomy 18 |
|
Anal atresia, Narrow palate, Atrial septal defect, Microretrognathia, Cleft palate, Abnormal hip ... |
ORPHA:3380 |
Microcephaly, Autosomal Dominant |
|
Broad hallux, Broad thumb, Hypotelorism |
OMIM:156580 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Abnormal tracheobronchial morphology, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal h... |
OMIM:218450 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Hypotelorism, High, narrow palate, Arachnodactyly, Hypospadias,... |
OMIM:601095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
High palate, Hypotelorism, Atrial septal defect, Gastroesophageal reflux, Prominent fingertip pad... |
OMIM:300986 |
Vater/Vacterl Association |
|
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... |
OMIM:192350 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Dental malocclusion, Hypotelorism, Supernumerary tooth, Narrow palate, Micrognathia,... |
OMIM:264475 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Deeply... |
OMIM:600987 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Deeply set eye, Talipes equinovarus, Hypotelorism, Malar fla... |
OMIM:602471 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Atrial septal defect, Malar flattening, Short phalanx of finger, Tapered finger, Long ... |
OMIM:613458 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Coronal hypospadi... |
OMIM:619859 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Hypotelorism, Atrial septal defect, Cleft palate, Postaxial polydactyly, Small hand... |
OMIM:300968 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Hartsfield Syndrome |
|
Cleft palate, Encephalocele, Aplasia/Hypoplasia of the radius, Split hand, Hypertelorism, Lobar h... |
ORPHA:2117 |
Oculodentodigital Dysplasia |
|
Cleft palate, Carious teeth, Ventricular septal defect, Mandibular prognathia, Abnormal metaphysi... |
ORPHA:2710 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Micrognathia, Hyperplasia of the maxilla, Polydactyly, Slender long bone, Hy... |
OMIM:612731 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Pentasomy X |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Small hand, Micrognathia, Cam... |
ORPHA:11 |
Vissers-Bodmer Syndrome |
|
Tapered finger, Holoprosencephaly |
OMIM:619033 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Hematuria, Furrowed tongue, Anorectal anomaly, Pulmonary fibrosis, Rec... |
ORPHA:1839 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Ventricular septal defect, Hypop... |
OMIM:214800 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Deeply set eye, Hypoplastic left heart, Atrioven... |
ORPHA:251071 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... |
OMIM:300963 |
Infantile Myofibromatosis |
|
Tracheoesophageal fistula, Neoplasm of the lung, Intestinal obstruction, Abnormal metaphysis morp... |
ORPHA:2591 |
Heart-Hand Syndrome, Slovenian Type |
|
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
2Q23.1 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Hypotelorism, Gastroesophageal reflux, Abnormality of the hand, B... |
ORPHA:313947 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... |
ORPHA:261243 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Li-Campeau Syndrome |
|
Atrial septal defect, Hypertelorism, Micropenis, Ventricular septal defect, Single transverse pal... |
OMIM:619189 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Syndactyly, Type B brachydactyly, ... |
OMIM:113000 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Sinusitis, Macroglossia, Abnormal pericardium morphology, Tracheoesophageal fist... |
ORPHA:442 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Hypotelorism, Talipes equinovarus, Cleft palate, Holoprosencephaly, Pulmonary hyp... |
ORPHA:250999 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Abnormality of the ureter, Anenc... |
OMIM:249000 |
Fanconi Anemia, Complementation Group L |
|
Anal atresia, Hydrocephalus, Absent thumb, Bilateral talipes equinovarus, Hypoplastic sacrum, Mic... |
OMIM:614083 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Hypoplastic left heart, Cleft... |
OMIM:301022 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Hypotelorism, 3-4 finger cutaneous syndactyly, Micrognathia, Hyposp... |
OMIM:164220 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Congenital hip dislocation, Micromelia, Finger clinodactyly, Ventr... |
ORPHA:508488 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
8P23.1 Duplication Syndrome |
|
Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis... |
ORPHA:251076 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypotelorism, Hypoplastic vertebr... |
ORPHA:2163 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Cyclopia, Mandibular aplasia, Mic... |
ORPHA:990 |
Mend Syndrome |
|
High palate, Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Microretr... |
OMIM:300960 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Hypertelori... |
ORPHA:3304 |
Non-Distal Trisomy 13Q |
|
High palate, Hypotelorism, Arachnodactyly, Micrognathia, Postaxial hand polydactyly |
ORPHA:1702 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Malar flattening, Congenital hip dislocation, Patent ductus arteriosus, Pat... |
OMIM:601450 |
Jacobsen Syndrome |
|
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Holoprosencephaly, Micrognat... |
OMIM:147791 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Hydrocephalus, Deeply set eye, Hypotelorism, Gastroesophageal reflux, Malar flatteni... |
OMIM:612940 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... |
ORPHA:138 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Holoprosenc... |
ORPHA:1052 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Cleft palate, Micromelia, Ventricular septal defect, Hammertoe, Pyloric stenosis, ... |
OMIM:270400 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypotelorism, Micrognathia, Down-sloping shoulders, Renal hypoplasia, Prominent superficial veins |
OMIM:616817 |
Feingold Syndrome 1 |
|
High palate, Short toe, 2-3 toe syndactyly, Duodenal atresia, Micrognathia, Tracheoesophageal fis... |
OMIM:164280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypotelorism, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus, Tetralogy ... |
ORPHA:3186 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Retrognathia, Deep palmar crease, Proptosis, Hypertelorism |
OMIM:617190 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pat... |
OMIM:601005 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Deeply set eye, Hypotelorism, Malar flattening, Cleft palate, Palmoplantar cutis laxa, Spina bifi... |
OMIM:268850 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Syndactyly, Polydactyly, Ventricular septal defect, Hypertelorism |
OMIM:602501 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hypertelorism, Hypotelorism, Slender finger |
OMIM:613192 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Talipes equinovarus, Cleft palate, Holoprosencephaly, Gastroesophageal refl... |
ORPHA:261236 |
Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Retrognathia, Microgn... |
ORPHA:3412 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phal... |
ORPHA:2256 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Distal urethral duplication, Cleft palate, Atrioventricular canal defect, Short man... |
ORPHA:2549 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus, Short palm |
ORPHA:79094 |
Developmental And Epileptic Encephalopathy 87 |
|
Single transverse palmar crease, Hypertelorism, Hypotelorism, High palate |
OMIM:618916 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Holoprosencephaly 11 |
|
Proptosis, Hypotelorism, Cleft palate, Holoprosencephaly |
OMIM:614226 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Polydactyly |
OMIM:615987 |
Penile Agenesis |
|
Anal atresia, Urethral atresia, male, Atrial septal defect, Rectal fistula, Urethral fistula, Bil... |
ORPHA:49 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Horseshoe kidney, Polydactyly, Camptodactyly |
OMIM:614815 |
Holoprosencephaly |
|
Hydrocephalus, Ventricular septal defect, Median cleft lip and palate, Proteinuria, Encephalocele... |
ORPHA:2162 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Single transverse palmar crease, Hypertelorism, Hypotelorism, High palate |
OMIM:613544 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, Hypospa... |
OMIM:175700 |
Suleiman-El-Hattab Syndrome |
|
High palate, Atrial septal defect, Microretrognathia, Brachydactyly, Polydactyly, Ventricular sep... |
OMIM:618950 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Acrocraniofacial Dysostosis |
|
Hypotelorism, Cleft palate, Short 1st metacarpal, Micrognathia, Proptosis, Metatarsus adductus, N... |
OMIM:201050 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Deeply set eye, Hypotelorism, Aminoaciduria, Pulmonary hemorrhage, Proteinuria, Clinodactyly |
OMIM:603585 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Short ribs, Micropenis, Micrognathia, Micromelia, Postaxial hand pol... |
OMIM:241800 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Cleft palate, Clinodactyly of the 4th finger, Carious teeth, Proptosis, Abnormal hea... |
ORPHA:177907 |
Mcdonough Syndrome |
|
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... |
OMIM:248950 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Atrial septal defect, High, narrow palate, Cleft palate, Postaxial polydactyly, ... |
ORPHA:435638 |
Grange Syndrome |
|
Bicuspid aortic valve, Coronary artery stenosis, Syndactyly, Brachydactyly, Finger clinodactyly, ... |
OMIM:602531 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy, Hypertelorism |
OMIM:300887 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Microretrognathia, Supernumerary tooth, Postaxial polydactyly, Preaxial pol... |
OMIM:615948 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Ketonuria, Hypotelorism, Single transverse palmar crease, Renal hypoplasia, Hypertro... |
OMIM:619053 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Hypotelorism, Congenital hip dislocation, Limited elbow extension, Incisor m... |
OMIM:619719 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Prominent fingertip pads, Hyperextensibility of the finger joints, Clinodactyly of the 3rd finger... |
OMIM:618821 |
Koolen-De Vries Syndrome |
|
High palate, Bicuspid aortic valve, Hypotelorism, Atrial septal defect, Slender finger, Prominent... |
OMIM:610443 |
Ritscher-Schinzel Syndrome 4 |
|
High palate, Ulnar deviation of the hand, Deeply set eye, Hypotelorism, Narrow palate, Micropenis... |
OMIM:619435 |
Chromosome 13Q14 Deletion Syndrome |
|
High palate, Overlapping toe, Clinodactyly of the 5th finger, Hypotelorism, Holoprosencephaly, Mi... |
OMIM:613884 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Deeply set eye, Atrial septal defect, Hypotelorism, Cleft palate, Gastroesophageal reflux, Small ... |
OMIM:301044 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, High, narrow palate, Cleft palate, Atrioventricular canal defect, Retrognathia, Mi... |
ORPHA:2409 |
Galloway-Mowat Syndrome |
|
Hypotelorism, Hiatus hernia, Aqueductal stenosis, Nephrotic syndrome, Adducted thumb, Micrognathi... |
ORPHA:2065 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Anal atresia, Atrial septal defect, Finger syndactyly, Cleft palate, Split foot,... |
ORPHA:2008 |
Orofaciodigital Syndrome Vi |
|
High palate, Mesoaxial hand polydactyly, Cleft palate, Postaxial polydactyly, Micrognathia, Brach... |
OMIM:277170 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Overlapping toe, Anal atresia, Gastroesophageal reflux, Postaxial polydactyly, Atrio... |
OMIM:613792 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Microform Holoprosencephaly |
|
Duodenal atresia, Hypotelorism, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Tetralogy o... |
ORPHA:280200 |
Pallister-Hall Syndrome |
|
Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Polydactyly affecting the... |
ORPHA:672 |
Monosomy 18P |
|
Cleft palate, Holoprosencephaly, Micrognathia, Brachydactyly, Carious teeth |
ORPHA:1598 |
Kennerknecht syndrome |
|
High palate, Malrotation of colon, Deeply set eye, Toe clinodactyly, Hypotelorism, Acetabular dys... |
OMIM:600908 |
Adams-Oliver Syndrome 6 |
|
Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot ol... |
OMIM:616589 |
Trisomy 18P |
|
Abnormality of finger, Hypotelorism, High, narrow palate, Micrognathia, Pyloric stenosis |
ORPHA:1715 |
Abruzzo-Erickson Syndrome |
|
Short toe, Atrial septal defect, Malar flattening, Cleft palate, Hypospadias, Coronal hypospadias... |
ORPHA:921 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Joint contra... |
OMIM:179613 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Talipes equinovarus, Slender finger, Atrial septal defect, Long fingers, P... |
OMIM:613355 |
Trigonocephaly 1 |
|
Hypotelorism, Meckel diverticulum, Long penis |
OMIM:190440 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... |
OMIM:300484 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Abnormal hip bone morphology, Micrognathia, Multiple renal cysts, Tetralogy of Fall... |
ORPHA:1166 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... |
OMIM:201000 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Talipes equinovarus, Intestinal atr... |
ORPHA:2970 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Ventricular septal defect, Renal cyst, Duplication of phalanx o... |
OMIM:263630 |
Vici Syndrome |
|
High palate, Hypotelorism, Renal tubular acidosis, Hypertelorism, Ureteral atresia, Cardiomyopath... |
ORPHA:1493 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypotelorism, Slender finger, Micrognathia, Down-sloping shoulders, Deviation of the 5th toe, Sle... |
ORPHA:391408 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
4-5 toe syndactyly, Hypertelorism, Hypotelorism |
OMIM:611091 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Tarp Syndrome |
|
High palate, Talipes equinovarus, Short sternum, Cleft palate, Postaxial polydactyly, Hypoplasia ... |
OMIM:311900 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... |
OMIM:613684 |
Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... |
ORPHA:1027 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Atrial septal defect, Meckel diverticulum, Craniofacial asymmetry,... |
ORPHA:1708 |
Chromosome 5P13 Duplication Syndrome |
|
High palate, Hypotelorism, Long fingers, Large hands, Proptosis, Hypertelorism |
OMIM:613174 |
Lymphedema, Primary, With Myelodysplasia |
|
Hypotelorism, Long fingers, Tapered finger |
OMIM:614038 |
Holt-Oram Syndrome |
|
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... |
OMIM:142900 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Micrognathia, Hallux valgus, Deeply set eye, Hypotelorism |
OMIM:614104 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... |
ORPHA:380 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Hypertelorism, Gastroesophageal reflux, Malar flattening, Tracheomalacia, R... |
OMIM:613177 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Duodenal atresia, Hypotelorism, Short femur, Intestinal malrotation, Micropenis, Ventricular sept... |
OMIM:617798 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Abnormal diaphysis morphology, Atrial sep... |
ORPHA:1842 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cleft palate, Coarctation of aorta, Single transverse palmar crease, Patent... |
OMIM:615502 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypotelorism, Cleft palate, Micropenis, Unilateral renal agenesis, Finger joint hypermobility |
OMIM:244200 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Micrognathia, Hypotelorism |
OMIM:615042 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... |
OMIM:274000 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, Slender finger, High, narrow palate, Micropenis, Abnormal trac... |
ORPHA:2872 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency, Deviation of finger |
ORPHA:903 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Abnormal tracheal morphology, Micrognathia, Ureteral... |
ORPHA:2257 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Syndactyly, Camptodactyly, Pericardial lymphangiectasia, Intestinal l... |
OMIM:616006 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Proptosis, Aortic root aneurysm, Spontane... |
OMIM:610168 |
Mental Retardation, Buenos Aires Type |
|
High palate, Dental malocclusion, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal de... |
OMIM:249630 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:3268 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Tracheoesophageal... |
ORPHA:904 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Atrial septal defect, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bif... |
ORPHA:2001 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Deeply set eye, Atrial septal defect, Arachnodactyly, Intestinal malro... |
OMIM:617602 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypotelorism, Talipes equinovarus, Cleft palate, Arachnodactyly, Prominence of the zygomatic bone... |
ORPHA:2215 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Tracheoesophageal fistula, Neoplasm of the lung, Laryngotracheal stenosis |
ORPHA:142 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... |
ORPHA:90652 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Atrial septal defect, Joint contracture of the hand, Retrognathia, Micr... |
ORPHA:352490 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... |
OMIM:607361 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defec... |
OMIM:614262 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Duodenal atresia, Clinodactyly of the 5th finger, Deeply set eye, Hypotelorism, Gast... |
OMIM:616975 |
Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Encephalocele, Talipes equinovarus, Polydactyly |
OMIM:613885 |
Craniosynostosis 2 |
|
Hypotelorism, Supernumerary tooth, Brachydactyly, Triphalangeal thumb, Cleft soft palate |
OMIM:604757 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... |
ORPHA:40366 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial o... |
OMIM:608571 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Hypotelorism, Arachnodactyly, Hypospadias, Multicystic kidney d... |
ORPHA:2115 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Alobar holoprosencephaly, High, narrow palate, Micropenis, Hypertelorism |
OMIM:615433 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Chromosome 17Q12 Duplication Syndrome |
|
Deeply set eye, Atrial septal defect, Micrognathia, Brachydactyly, Broad thumb, Esophageal atresi... |
OMIM:614526 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Atrial septal defect, Micromelia, Brachydactyly, Abnormal ilium morphology, Propto... |
ORPHA:2655 |
Degcags Syndrome |
|
High palate, Hiatus hernia, Abnormal renal medulla morphology, Ventricular septal defect, Pyloric... |
OMIM:619488 |
Toxic Epidermal Necrolysis |
|
Dysuria, Malabsorption, Tracheoesophageal fistula, Abnormality of the urethra, Abnormal pleura mo... |
ORPHA:537 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Micromelia, Brachy... |
OMIM:617895 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Peripheral pulmonary artery stenosis, Abnormality of finger, Atrial septal defec... |
ORPHA:436003 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... |
ORPHA:521308 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Dental malocclusion, Deeply set eye, Atrial septal defect, Anal atresia, Velopha... |
ORPHA:363444 |
Sirenomelia |
|
Anal atresia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Absence o... |
ORPHA:3169 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
High palate, Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:619512 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... |
OMIM:615994 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Micrognathia, Hypospadias, Ventricular septal defect... |
OMIM:231060 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Anal atresia, Micro... |
OMIM:115470 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
Mosaic Trisomy 1 |
|
Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, Single trans... |
ORPHA:1692 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hypotelorism, Talipes equinovarus, Adducted thumb, Congenital hip dislocation, Hypertelorism |
OMIM:219150 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Holoprosencephaly |
OMIM:617967 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Alobar holoprosencephaly, Hypoplastic left heart... |
OMIM:301043 |
Apert Syndrome |
|
Hydrocephalus, Cleft palate, Cutaneous syndactyly, Shallow orbits, Delayed eruption of teeth, Rhi... |
OMIM:101200 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Micrognathia, Hypospadias, Bilateral single transverse palmar ... |
ORPHA:1913 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Hypotelorism, Adducted thumb, Bifid uvula, Single transverse palmar crease, Rocker bottom foot, M... |
OMIM:618622 |
Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Atrial septal defect, Cleft palate, Unilateral renal agenesis, Micrognathia, ... |
OMIM:608572 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Proptosis, Aortic root aneurysm, Talipes ... |
OMIM:609192 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... |
OMIM:235510 |
16P11.2P12.2 Microdeletion Syndrome |
|
Deeply set eye, Hypotelorism, Microretrognathia, Gastroesophageal reflux, Camptodactyly of finger... |
ORPHA:261211 |
Seckel Syndrome 7 |
|
Hypotelorism, Clinodactyly, Madelung deformity, Hip dysplasia, Abnormal carpal morphology |
OMIM:614851 |
Treacher-Collins Syndrome |
|
High palate, Hypoplasia of penis, Malar flattening, Encephalocele, Retrognathia, Micrognathia, Cl... |
ORPHA:861 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinoda... |
OMIM:300049 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, Ence... |
OMIM:603194 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Atrial septal defect, Arachnodactyly, Abnormality of the ureter, Micromelia, Genu va... |
ORPHA:1035 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:619149 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Cleft palate, Camptodact... |
OMIM:300244 |
Silver-Russell Syndrome 3 |
|
Retrognathia, Hypospadias, Syndactyly, Finger clinodactyly, Patent ductus arteriosus |
OMIM:616489 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxi... |
ORPHA:261295 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Sh... |
OMIM:617866 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Hypoplastic left hea... |
OMIM:619721 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Talipes equinovarus, Hypoplastic left heart... |
OMIM:618845 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormality of the ureter, Micromelia, Delayed eruption of teeth, ... |
ORPHA:289 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal cardiac septum morphology, Hypertelorism, Cleft palate, Tracheomalacia, Micrognathia, Hy... |
OMIM:217980 |
Mckusick-Kaufman Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... |
ORPHA:2473 |
Distal Tetrasomy 15Q |
|
High palate, Hydrocephalus, Atrial septal defect, Arachnodactyly, Retrognathia, Micrognathia, Cam... |
ORPHA:314588 |
Phaver Syndrome |
|
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Radioulnar... |
ORPHA:2876 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Monosomy 5P |
|
High palate, Microretrognathia, Small hand, Hypertelorism, Finger syndactyly |
ORPHA:281 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Postaxial hand polydactyly, Dilated cardiomyopathy, ... |
OMIM:615981 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hydrou... |
ORPHA:2973 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Microretrognathia, Adducted thumb, Patent foramen ovale, Rocker bottom foot... |
ORPHA:89844 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Bladder diverticulum, Bicuspid aortic valve, Hypotelorism, Talipes equinovarus, Subd... |
ORPHA:536545 |
Kabuki Syndrome 2 |
|
High palate, Dental malocclusion, Atrial septal defect, Prominent fingertip pads, Atrioventricula... |
OMIM:300867 |
Mohr Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the max... |
OMIM:252100 |
Emanuel Syndrome |
|
High palate, Anal atresia, Deeply set eye, Atrial septal defect, Aortic valve stenosis, Cleft pal... |
OMIM:609029 |
Steinfeld Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Bifid uvula, Hypoplasia of the ulna, Phocomelia, Med... |
OMIM:184705 |
Filippi Syndrome |
|
Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect, Single transverse palmar cr... |
OMIM:272440 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Bilateral single... |
ORPHA:2516 |
Cranioectodermal Dysplasia 1 |
|
High palate, Single transverse palmar crease, Rhizomelia, Stage 5 chronic kidney disease, Short d... |
OMIM:218330 |
Weaver Syndrome |
|
Talipes equinovarus, Hypoplasia of penis, Retrognathia, Micrognathia, Camptodactyly of finger, La... |
ORPHA:3447 |
Renal Agenesis, Bilateral |
|
Cleft palate, Tracheoesophageal fistula, Sirenomelia, Pulmonary hypoplasia, Abnormal intestine mo... |
ORPHA:1848 |
Tarp Syndrome |
|
Short sternum, Cleft palate, Single transverse palmar crease, Tongue nodules, Pulmonary hypoplasi... |
ORPHA:2886 |
Craniosynostosis, Herrmann-Opitz Type |
|
Hypertelorism, Malar flattening, Cleft palate, Micrognathia, Abnormality of the urethra, Brachyda... |
ORPHA:2145 |
Non-Syndromic Metopic Craniosynostosis |
|
Hypotelorism |
ORPHA:3366 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia |
ORPHA:93946 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Retrognathia, Unilateral renal agenes... |
OMIM:614576 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Deeply set eye, Hypotelorism, Micropenis, Unilateral renal agenesis, Limb undergrowth, Dilated ca... |
OMIM:616541 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Shor... |
ORPHA:1505 |
Charlie M Syndrome |
|
Micrognathia, Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Hyp... |
ORPHA:1406 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... |
ORPHA:166024 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Atrial septal defect |
OMIM:608227 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Hypotelorism |
OMIM:618500 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognathia, Brachydac... |
OMIM:600325 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th... |
ORPHA:2712 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Atrial septal defect, Microretrognathia, Finger joint hypermobility, Monkey w... |
OMIM:618870 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... |
ORPHA:2751 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Atrial septal defect, Talipes equinovarus, Hypospadias, Ab... |
ORPHA:261311 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Ritscher-Schinzel Syndrome 3 |
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Shortening of all distal phalanges of the fingers, Atrioventricular canal defect, Short 1st metac... |
OMIM:619135 |
Feingold Syndrome Type 1 |
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Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... |
ORPHA:391641 |
Coffin-Siris Syndrome 1 |
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High palate, Short sternum, Prominent fingertip pads, Cleft palate, Delayed eruption of teeth, Ve... |
OMIM:135900 |
Buratti-Harel Syndrome |
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High palate, Clinodactyly of the 5th finger, Atrial septal defect, Velopharyngeal insufficiency, ... |
OMIM:619314 |
Thanatophoric Dysplasia Type 1 |
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Hydrocephalus, Atrial septal defect, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, B... |
ORPHA:1860 |
Ventricular Septal Defect 3 |
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Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Char Syndrome |
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No permanent dentition, Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Persistence o... |
ORPHA:46627 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... |
OMIM:253800 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
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High palate, Hypotelorism |
OMIM:616281 |
Noonan Syndrome 2 |
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Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... |
OMIM:605275 |
Megalencephaly |
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Genu valgum, Deeply set eye, Atrial septal defect, Long penis |
ORPHA:2477 |
Halperin-Birk Syndrome |
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High palate, Talipes equinovarus, Gastroesophageal reflux, Pseudobulbar paralysis, Micrognathia, ... |
OMIM:618651 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Microphthalmia, Isolated, With Coloboma 5 |
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Holoprosencephaly |
OMIM:611638 |
Stankiewicz-Isidor Syndrome |
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2-3 toe syndactyly, Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral d... |
OMIM:617516 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Atrial septal defect, Micropenis, Tapered finger, Ventricular septal defect, Patent ductus arteri... |
OMIM:613870 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly, Cardiomegaly |
OMIM:613576 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
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Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Patent ductus arterio... |
OMIM:608406 |
Tibial Hemimelia |
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Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Dyskeratosis Congenita |
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Malabsorption, Taurodontia, Tracheoesophageal fistula, Carious teeth, Hypoplasia of the maxilla, ... |
ORPHA:1775 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
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Hydrocephalus, 2-3 toe syndactyly, Secundum atrial septal defect, Micropenis, 3-4 finger cutaneou... |
OMIM:619951 |
White Forelock With Malformations |
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Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Hypertelorism, Finger... |
ORPHA:2475 |
Chromosome 2Q35 Duplication Syndrome |
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Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Moebius Syndrome |
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High palate, Talipes equinovarus, Micropenis, Micrognathia, Brachydactyly, Short phalanx of finge... |
OMIM:157900 |
Meckel Syndrome, Type 10 |
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Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... |
OMIM:614175 |
Biemond Syndrome Type 2 |
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Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... |
OMIM:236500 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... |
ORPHA:2484 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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High palate, Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth,... |
OMIM:619148 |
Saethre-Chotzen Syndrome |
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Clinodactyly of the 5th finger, Hypotelorism, Narrow palate, Cleft palate, Proximal radio-ulnar s... |
ORPHA:794 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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High palate, Hydrocephalus, Hypotelorism, Atrial septal defect, Sinusitis, Pulmonic stenosis, Mic... |
ORPHA:363700 |
8Q12 Microduplication Syndrome |
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Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect, Short foot, Vesicourete... |
ORPHA:228399 |
Pfeiffer Syndrome |
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High palate, Hydrocephalus, Elbow ankylosis, Bronchomalacia, Shallow orbits, Tracheal cartilagino... |
OMIM:101600 |
Gordon Syndrome |
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High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... |
ORPHA:376 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Postaxial polydactyly, Ventricular septal defect, Vascular dilatation, Renal insuf... |
OMIM:219730 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Bardet-Biedl Syndrome 19 |
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