Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Abnormal lung morphology,... |
ORPHA:294975 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Hypertelor... |
OMIM:217095 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Left superior vena cava draini... |
OMIM:619143 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, An... |
OMIM:264480 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Enlarged kidney, Hydrocephal... |
OMIM:314390 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, High palate, Congenital megaureter, Myelomeningocele, 2-3 finger syndactyly, M... |
ORPHA:2437 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Bilate... |
OMIM:306955 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spinal dysraphism, Ventricul... |
ORPHA:1908 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Hypoplasia of the maxilla, Limb undergrowth, Complete... |
OMIM:619142 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
17Q12 Microduplication Syndrome |
|
Deeply set eye, Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoesophageal fistul... |
ORPHA:261272 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Atrial ... |
OMIM:208530 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, High palate, Micrognathia, Hypertelorism, Coronary-pulmonary artery fistula |
OMIM:619699 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
White Forelock With Malformations |
|
Atrial septal defect, Bronchomalacia, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges o... |
OMIM:277740 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Anal atresia, Atrial septal defe... |
OMIM:612946 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atrial septal defect,... |
ORPHA:3469 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Deeply set eye, Finger syndactyly, Clinodactyly, Hydroc... |
ORPHA:251046 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Natal tooth, Delayed eruption of teeth, Short ribs, Capitate... |
OMIM:225500 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... |
ORPHA:2538 |
Acalvaria |
|
Spina bifida, Abnormal lung lobation, Hydrocephalus, Hypertelorism, Holoprosencephaly, Postaxial ... |
ORPHA:945 |
Down Syndrome |
|
Atrioventricular canal defect, Pulmonary artery stenosis, Short palm, Hypoplastic iliac wing, Dou... |
OMIM:190685 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Abnormal cardiac septum morphology, Anencephaly, ... |
ORPHA:1590 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atrial s... |
ORPHA:93274 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... |
OMIM:300514 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Deeply set eye, Microretrognathia, Hypospadias, Tetralogy of Fallot, Hypotelorism |
ORPHA:276422 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Atrial septal defec... |
OMIM:618330 |
Acces Syndrome |
|
Retrognathia, Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Tracheoesophageal f... |
OMIM:619959 |
Vacterl/Vater Association |
|
Anorectal anomaly, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly, Ab... |
ORPHA:887 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pleural effusion, Pulmo... |
OMIM:265380 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Natal tooth, Short ribs, Short long bone, Micrognathia, Narr... |
OMIM:617925 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices, Ventricular septal defect, Abnormal cardiac septum morphology, Coron... |
OMIM:614294 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:618974 |
Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Dislocated r... |
OMIM:617063 |
Meacham Syndrome |
|
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... |
OMIM:608978 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Velopharyngeal insufficiency, Pulmonary hypoplasia, Brachydactyly, Hypospadias, Bro... |
OMIM:300978 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ... |
ORPHA:1923 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Foot polydactyly, Micrognathia, Hydrocephalus, Coarctation of aorta, T... |
ORPHA:268249 |
Hamamy Syndrome |
|
Dental malocclusion, Enamel hypoplasia, High palate, Tapered finger, Micrognathia, Hip dysplasia,... |
OMIM:611174 |
Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... |
OMIM:193530 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydroc... |
ORPHA:77298 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Aplasia of the 1st metacarpal, Eruption failure, High palate, Unilateral ra... |
ORPHA:476126 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... |
ORPHA:210122 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Abnormal pleura morphology, Deeply set eye, Aplasia/Hypoplasia of the lu... |
ORPHA:2570 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Micrognathia, Clinodactyly... |
ORPHA:1388 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia |
OMIM:619083 |
Triploidy |
|
Meningocele, Finger syndactyly, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, ... |
ORPHA:3376 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... |
ORPHA:59315 |
Holoprosencephaly 5 |
|
High palate, Syntelencephaly, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly... |
OMIM:609637 |
Meckel Syndrome 14 |
|
Retrognathia, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmonary hypoplasia, Micr... |
OMIM:619879 |
Monosomy 13Q34 |
|
Micrognathia, Postaxial foot polydactyly, Hypertelorism, Postaxial hand polydactyly, Common atriu... |
ORPHA:96168 |
Trisomy 1Q |
|
Patent ductus arteriosus, Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megau... |
ORPHA:261344 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... |
ORPHA:1120 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Syndactyly, Narrow palm, Holoprosencephaly, Abnormal heart morphology |
ORPHA:1445 |
Trisomy 13 |
|
Patent ductus arteriosus, Deeply set eye, Ventricular septal defect, Hypotelorism, Abnormal lung ... |
ORPHA:3378 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, High palate, Mitral valve prolapse, Aortic aneurysm, Tracheoesophageal f... |
ORPHA:115 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnor... |
ORPHA:2511 |
Short Stature-Micrognathia Syndrome |
|
Retrognathia, Gastroesophageal reflux, 2-3 toe syndactyly, Broad femoral neck, High palate, Ventr... |
OMIM:617164 |
Congenital Tracheomalacia |
|
Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Pneumonia, Ventricular septal defect, Esophag... |
ORPHA:95430 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Patent ductus arteriosus, Genu varum, Epiphyseal stippling, Coarse metaphyseal trabecularization,... |
ORPHA:1952 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Preaxial foot polydactyly, Semilobar holoprosencephaly, ... |
OMIM:245552 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Absent thumb... |
ORPHA:392 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Hypotelorism |
OMIM:314320 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, High palate, Hypoplasia of the radius, Micrognathia, Hypotelorism, Hand oligodactyl... |
OMIM:602418 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, High palate, Pericardial effusion, Micrognathia, Clinodactyly, Camptodactyly, Hyd... |
OMIM:617822 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... |
ORPHA:141127 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, 2-3 toe syndactyly, Short femoral neck, Coxa vara, Velopharyngeal insuff... |
OMIM:614701 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Retrognathia, Crossed fused renal ectopia, High palate, Ventricular sep... |
OMIM:618142 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, High palate, Ventricular septal defect, Hypotelorism |
ORPHA:3369 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Micrognat... |
ORPHA:84 |
Frontoocular Syndrome |
|
High palate, Micrognathia, Atrial septal defect, Proptosis, Pulmonic stenosis, Hypotelorism |
OMIM:605321 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Deep pal... |
ORPHA:99776 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Bifid distal phalanx of the thumb, High palate, Ventricular septal... |
ORPHA:2209 |
Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia, Tracheomal... |
OMIM:202650 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Short-Rib Thoracic Dysplasia 12 |
|
Pulmonary hypoplasia, Holoprosencephaly, Limb undergrowth, Short palm, Patent foramen ovale, Shor... |
OMIM:269860 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Distal shortening of limbs, Hip dislocation, Holoprosenceph... |
OMIM:146510 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Mandibular prognathia, Toe syndactyly, Aplasia/Hypoplasia of fingers, Microgna... |
ORPHA:3082 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... |
OMIM:227646 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ho... |
OMIM:107480 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormal cerebral vascular morphology, Abnormal morphology of the radius, Hyper... |
ORPHA:2165 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Ventricular septal defect, Anterior encephalocele, Short femur, Holoprosenceph... |
OMIM:601357 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, High palate, Deeply set eye, Micrognathia, Clinodactyly, Camptodactyly, ... |
OMIM:613604 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, Clinodacty... |
OMIM:619123 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Intestinal malrotation, Ecto... |
ORPHA:401935 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Abnormal cardiac septum morphology, Hypoplasia of the premaxilla, Micrognathia, Ab... |
ORPHA:2166 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Ventricular septal defect, Deeply set eye, 3-4 finger cutaneous syndactyly, Pulmonar... |
OMIM:612530 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... |
ORPHA:958 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... |
ORPHA:52056 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia, Ectopic anus, Micrognathia, Dysphagia, Cleft palate, Aortic root ... |
ORPHA:2745 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, High palate, Abnormal carpal morphology, ... |
ORPHA:1225 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, ... |
ORPHA:1780 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Intestinal atresia, Tracheal stenosis, Abnormal cardiac septum morphology |
ORPHA:93941 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal metaphysis morphology, Finger syndactyly, Hypotelorism, Taurodontia, Clinoda... |
ORPHA:1515 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Micrognathia, Cleft palate, Ventricular septal defec... |
ORPHA:7 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Esophageal atresia, Bifid uvula... |
OMIM:301030 |
Endocrine-Cerebroosteodysplasia |
|
Micrognathia, Holoprosencephaly, Fibular bowing, Talipes equinovarus, Enlarged kidney, Hydrocepha... |
OMIM:612651 |
Distal Monosomy 7Q36 |
|
Symphalangism affecting the phalanges of the hand, Micrognathia, Hypoplasia of penis, Clinodactyl... |
ORPHA:1636 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Micrognathia, Ulnar deviation of finger, Abnormal distal phalanx morphology of finge... |
ORPHA:1387 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Deeply set eye, Ventricular septal defect, Rhizomelia, Micrognathia,... |
OMIM:614114 |
Distal Monosomy 10Q |
|
Tapered finger, Micrognathia, Hip dislocation, Spina bifida occulta, 2-3 toe cutaneous syndactyly... |
ORPHA:96148 |
Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Preaxial hand polydactyly, Ventricular septal defect, Micrognathia, Arrhi... |
OMIM:236680 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Short femur, Spina bifida oc... |
ORPHA:508488 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Unilateral renal ag... |
OMIM:620024 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Short toe, 2-3 toe syndactyly, High palate, Jejunal atresia, Gastrointe... |
OMIM:164280 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Small hand, Deeply set eye, Hip dysplasia, Clinodactyly of... |
OMIM:618672 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia, ... |
OMIM:601016 |
Esophageal Atresia |
|
Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Ventricular septal defect, Tracheoesop... |
ORPHA:1199 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Broad hallux, Abnormal dental enamel morphology, Short toe... |
ORPHA:439822 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Hypotelorism, Microretrognathia, Intesti... |
ORPHA:276413 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... |
OMIM:619534 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Mandibular prognathia, Limited elbow movement, Pulmonic stenosis, Mi... |
OMIM:151100 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... |
OMIM:249670 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Clinodactyly of the 5th finger, Tracheoesophageal... |
ORPHA:3068 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Dental malocclusion, Short metacarpal, Delayed eruption of t... |
ORPHA:2980 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fing... |
OMIM:617926 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, High palate, Cystathioninuria, Glossitis, Atrial septal defect, Tracheo... |
OMIM:277380 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Esophageal atresia, Submucous cleft hard palate, Unilateral renal agenesis, Tracheo... |
OMIM:619227 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
49,Xxxxy Syndrome |
|
Gastroesophageal reflux, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Arrhinence... |
ORPHA:96264 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Bifid tongue, Micrognathia, Hip dislocation, P... |
ORPHA:818 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Deeply set eye, Toe syndactyly,... |
ORPHA:261120 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Toe synd... |
ORPHA:65759 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Micrognathia, Single transverse palmar crease, Hypertelorism, Talipes equinovarus, H... |
OMIM:613544 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pulmonary fibro... |
ORPHA:52047 |
Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Deeply set eye, Clinodactyly, Hypertelorism, Malar flattening, P... |
OMIM:615984 |
Microcephaly, Autosomal Dominant |
|
Broad hallux, Broad thumb, Hypotelorism |
OMIM:156580 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Tapered finger, Limited elbow extension |
OMIM:300706 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Retrognathia, Triphalangeal thumb, Ventricular... |
OMIM:612561 |
Trisomy 18 |
|
Camptodactyly of finger, Deviation of finger, Abnormality of the upper limb, Narrow palate, Ventr... |
ORPHA:3380 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gastroesophageal reflux, High palate, Micrognathia, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:300986 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Hypotelorism |
OMIM:619091 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Gastroesophageal reflux, Short 2nd finger, 2-3 toe syndactyly, Congenital lobar overinflation, Ac... |
OMIM:600987 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Micrognathia, Swan neck-like deformities of the fingers, Short finger, Clinodactyly, Single trans... |
OMIM:615656 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Hype... |
OMIM:619859 |
Phocomelia, Schinzel Type |
|
Meningocele, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, ... |
ORPHA:2879 |
Vater/Vacterl Association |
|
Patent urachus, Vesicoureteral reflux, Ventricular septal defect, Esophageal atresia, Spina bifid... |
OMIM:192350 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Taurodontia, Short hallux, Madelung deform... |
ORPHA:2710 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Rhizomelia, Deeply set eye, Micrognathia, Hypotelorism, Short humerus, Hip dislocati... |
OMIM:602471 |
Pentasomy X |
|
Patent ductus arteriosus, Camptodactyly of finger, Small hand, Abnormal cardiac septum morphology... |
ORPHA:11 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Tapered finger, Short foot, Small hand, Hip dysplasia, Hypotelorism, Bi... |
OMIM:300968 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Hypertelorism, Aplasia/Hypoplasia of the radius, Split ha... |
ORPHA:2117 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal ... |
OMIM:614815 |
Faciocardiomelic Syndrome |
|
Polydactyly, Dental malocclusion, Micrognathia, Slender long bone, Hyperplasia of the maxilla, Hy... |
OMIM:612731 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Hematuria, Tracheoesophageal fistula, Pulmonary fibrosis, Furrowed tongue, Rec... |
ORPHA:1839 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Dysphagia, Cleft palate, Bilatera... |
OMIM:214800 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
2Q23.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Clinodactyly of the 5th finger, Broad hallux, Abnormality of the hand, S... |
ORPHA:313947 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal d... |
OMIM:300963 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... |
ORPHA:251071 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A... |
OMIM:619189 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Micromelia, Cl... |
ORPHA:63862 |
Congenital Hypothyroidism |
|
Abnormal pericardium morphology, Macroglossia, Tracheoesophageal fistula, Sinusitis, Intestinal o... |
ORPHA:442 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Submucous cleft hard palate, Pulmonary hypoplasia, Holoprosencephaly, Cleft palat... |
ORPHA:250999 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Joint contracture of the hand, Short long bone, Cu... |
OMIM:113000 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Micrognathia... |
OMIM:614083 |
Infantile Myofibromatosis |
|
Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal obstruction, Abnormal metaph... |
ORPHA:2591 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Micrognathia, Pulmonary hypoplasia, ... |
OMIM:249000 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly of the 5th finger, Co... |
OMIM:301022 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involvi... |
ORPHA:88630 |
Schilbach-Rott Syndrome |
|
Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Clinodac... |
OMIM:164220 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Temple-Baraitser Syndrome |
|
Gastroesophageal reflux, Long hallux, Atrial septal defect, Pseudoepiphysis of the thumb, Broad h... |
OMIM:611816 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Bifid uvula, Hip dislocation, Pulmonary hypopl... |
OMIM:270400 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
Non-Distal Trisomy 13Q |
|
High palate, Micrognathia, Arachnodactyly, Postaxial hand polydactyly, Hypotelorism |
ORPHA:1702 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Arachnod... |
ORPHA:261243 |
Jacobsen Syndrome |
|
Ventricular septal defect, Micrognathia, Pyloric stenosis, Missing ribs, Clinodactyly of the 5th ... |
OMIM:147791 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Stomach cancer, Abnormal aortic morphology, Multicystic kidney dyspl... |
ORPHA:1052 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Deeply set eye, Ventricula... |
OMIM:618454 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Vacterl With Hydrocephalus |
|
Retrognathia, Aqueductal stenosis, Esophageal atresia, Absence of the sacrum, Micrognathia, Hypop... |
ORPHA:3412 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
8P23.1 Duplication Syndrome |
|
Deeply set eye, Ventricular septal defect, Toe syndactyly, Hypertelorism, Tetralogy of Fallot, Pu... |
ORPHA:251076 |
Complete Atrioventricular Septal Defect |
|
Recurrent pneumonia, Displacement of the papillary muscles, Complete atrioventricular canal defec... |
ORPHA:1329 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Microglossia,... |
ORPHA:990 |
Timothy Syndrome |
|
Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Syndactyly... |
OMIM:601005 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormality of the humerus, Foot polyd... |
ORPHA:3186 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Micrognathia, Down-sloping shoulders, Prominent superficial veins, Renal hypoplasia, Hypotelorism |
OMIM:616817 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof... |
ORPHA:138 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm |
ORPHA:79094 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Gastroesophageal reflux, Double outlet right ventricle, Patent foramen ... |
OMIM:618316 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Holoprosencephaly, Brac... |
ORPHA:2163 |
Holoprosencephaly 11 |
|
Cleft palate, Holoprosencephaly, Proptosis, Hypotelorism |
OMIM:614226 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, High palate, Microgn... |
ORPHA:3304 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly, Hypertelorism |
OMIM:602501 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Polydactyly, High palate, Ventricular septal defect, Clinodactyly, Atrial s... |
OMIM:618950 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertelorism, Single transverse palmar crease, High palate, Hypotelorism |
OMIM:618916 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Palmoplantar cutis laxa, Deeply set eye, Spina bifida occulta, Abnormal di... |
OMIM:268850 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Vesicoureteral reflux, Atrioventricular canal defect, Aplasia/Hypoplasia of ... |
ORPHA:2549 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl... |
OMIM:175700 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hypertelorism, Slender finger, Hypotelorism |
OMIM:613192 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Gastroesophageal reflux, High palate, Deeply set eye, Hydrocephalus, Prominent superficial veins,... |
OMIM:612940 |
Acrocraniofacial Dysostosis |
|
Short first metatarsal, Natal tooth, Short 1st metacarpal, Micrognathia, Metatarsus adductus, Pro... |
OMIM:201050 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, Short long bone, ... |
ORPHA:2256 |
Penile Agenesis |
|
Anorectal anomaly, Absent penis, Bilateral lung agenesis, Ventricular septal defect, Urethral fis... |
ORPHA:49 |
Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Syndactyly, Renovascula... |
OMIM:602531 |
16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Gastroesophageal reflux, Camptodactyly of finger, Ventricular septal defect, A... |
ORPHA:261236 |
Holoprosencephaly |
|
Spinal dysraphism, Holoprosencephaly, Cyclopia, Intestinal atresia, Ventricular septal defect, Ap... |
ORPHA:2162 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Pulmonary hemorrhage, Deeply set eye, Clinodactyly, Proteinuria, Hypotelorism |
OMIM:603585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Renal hypop... |
OMIM:619053 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent respiratory infections, Stage 5 chronic kidney disease, Renal cyst, Renal ... |
OMIM:615993 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Vesicoureteral reflux, High palate, Narrow palate... |
OMIM:610443 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Bifid uvula, Overlapping toe, Bilateral talipes equinovarus, Cleft palate, Patent f... |
ORPHA:177907 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Short 5th finger, Rhizomelia, Hyperextensibility of the finger joints, Stag... |
OMIM:618821 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Hy... |
OMIM:619719 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Ritscher-Schinzel Syndrome 4 |
|
High palate, Tapered finger, Narrow palate, Deeply set eye, Hip dysplasia, Hip dislocation, Narro... |
OMIM:619435 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Gastroesophageal reflux, Tapered finger, Ventricular septal defect, Small hand, Dee... |
OMIM:301044 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Aqueductal stenosis, Nephrotic syndrome, Micrognathia, Adducted thumb, N... |
ORPHA:2065 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Hypertelorism, Sandal gap, Tetralogy of Fallot |
OMIM:300887 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Holoprosencephaly, Tetralogy of Fallot, Cyclopia, Cleft palate, Duodenal atr... |
ORPHA:280200 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... |
OMIM:615948 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation... |
ORPHA:672 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Micrognathia, Hip dislocation, Clin... |
OMIM:613884 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Foot oligodactyly, Ventricular septal defect, Syndactyly, Renal hypoplasia, B... |
OMIM:616589 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Abnor... |
ORPHA:1166 |
Monosomy 18P |
|
Micrognathia, Holoprosencephaly, Brachydactyly, Carious teeth, Cleft palate |
ORPHA:1598 |
Lowry-Maclean Syndrome |
|
Midgut malrotation, Atrioventricular canal defect, Talon cusp, Retrognathia, Delayed eruption of ... |
ORPHA:2409 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Chromosome 5P13 Duplication Syndrome |
|
Vesicoureteral reflux, High palate, Large hands, Single transverse palmar crease, Hypertelorism, ... |
OMIM:613174 |
Trisomy 18P |
|
Abnormal finger morphology, Micrognathia, Pyloric stenosis, High, narrow palate, Hypotelorism |
ORPHA:1715 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Retrognathia, Gastroesophageal reflux, Atrioventricular canal defect, High palate, Tapered finger... |
OMIM:613792 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Mandibular prognathia, Tapered finger, Ventricular septal defect, 2-3 f... |
ORPHA:435638 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Long toe, Slender finger, ... |
OMIM:613355 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Hallux valgus, Mitral ste... |
ORPHA:2008 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Syndactyly, Hypertelorism,... |
OMIM:300484 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Micrognathia, Deeply set eye, Hallux valgus, Hypotelorism |
OMIM:614104 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... |
OMIM:263630 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Hypoplasia of t... |
OMIM:212780 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Gastroesophageal reflux, Patent foramen ovale, Deeply set eye, Ventricular septal defect, Hip dys... |
OMIM:618494 |
Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... |
OMIM:201000 |
Abruzzo-Erickson Syndrome |
|
Short toe, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial septal defect... |
ORPHA:921 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Slender toe, Clinodactyly, Down-sloping shoulders, Slender finger, Deviation of the... |
ORPHA:391408 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Hypertelorism, Hypotelorism, 4-5 toe syndactyly |
OMIM:611091 |
Vici Syndrome |
|
High palate, Renal tubular acidosis, Hypotelorism, Hypertelorism, Ureteral atresia, Recurrent res... |
ORPHA:1493 |
Tarp Syndrome |
|
Short sternum, High palate, Postaxial polydactyly, Tongue nodules, Hypoplasia of the radius, Micr... |
OMIM:311900 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micrognathia, Acromelia of t... |
ORPHA:1027 |
Lymphedema, Primary, With Myelodysplasia |
|
Long fingers, Tapered finger, Hypotelorism |
OMIM:614038 |
Mosaic Trisomy 16 |
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Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Abnormality of the gastr... |
ORPHA:1708 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Cutaneous syndactyly of toes, Temporomandibular joint ankylosis, Micrognathia, Bifid uvula, Small... |
ORPHA:2872 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplasm of the lung |
ORPHA:142 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, High palate, Hypotelorism |
OMIM:615042 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Vesicouret... |
OMIM:607323 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo... |
OMIM:142900 |
Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand... |
OMIM:614120 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ... |
ORPHA:2215 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Mi... |
ORPHA:3320 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of... |
ORPHA:2001 |
Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,... |
OMIM:610168 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... |
OMIM:607361 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Alobar holoprosencephaly, Hypertelorism, High, narrow palate, Micropenis |
OMIM:615433 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis, Finger syndactyly |
ORPHA:3268 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn... |
ORPHA:90652 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Von Willebrand Disease |
|
Deviation of finger, Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Short foot, Delayed eruption of teeth, Micrognathia, Slender long bone, Hypoteloris... |
OMIM:601812 |
Toxic Epidermal Necrolysis |
|
Intestinal perforation, Abnormal pleura morphology, Malabsorption, Dysuria, Tracheoesophageal fis... |
ORPHA:537 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Finger joint hypermobility, Unilateral renal agenesis, Cleft palate, Micropenis, Hypotelorism |
OMIM:244200 |
Williams Syndrome |
|
Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Hallux valgus, Abnormal cardiac septum m... |
ORPHA:904 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Syndactyly, Hyperteloris... |
OMIM:616006 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, High palate, Abnormality of the calcaneus, Mic... |
ORPHA:40366 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... |
ORPHA:488618 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, H... |
OMIM:616975 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... |
OMIM:614262 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Incisor macrodontia, Atrial septal defect, Coarctation of aorta, Single... |
OMIM:615502 |
Harrod Syndrome |
|
Dental malocclusion, Multicystic kidney dysplasia, High palate, Abnormal pelvic girdle bone morph... |
ORPHA:2115 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypopla... |
ORPHA:2257 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Hypotelorism, Short femur, Intestinal malrotation, Gastro... |
OMIM:617798 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, High palate, Unbalanced atrioventricular... |
OMIM:619657 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Metaphyseal dysplasia, Rhizomelia, Abnormality of the elbow, Short ribs... |
ORPHA:1842 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly, Atrial septal defect |
OMIM:113301 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate, Long penis, Hypotelorism |
OMIM:190440 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Hand oligodactyly, Syndactyly... |
OMIM:183600 |
Apert Syndrome |
|
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Postaxial hand pol... |
OMIM:101200 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the l... |
OMIM:603194 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... |
OMIM:231060 |
Degcags Syndrome |
|
Polydactyly, Toe syndactyly, Micrognathia, Pneumonia, Intestinal atresia, Talipes equinovarus, Pa... |
OMIM:619488 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Pulmonary hypo... |
OMIM:617895 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, High palate, Aqueductal stenosis, Dilation of Virchow-Robin spaces, Microg... |
OMIM:619512 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Abnormal finger morphology, Micrognathia, Hip dysplasia, Radioulnar sy... |
ORPHA:436003 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Bifid uvula, Adducted thumb, Single transverse palmar crease, Rocker botto... |
OMIM:618622 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Gastroesophageal reflux, Double outlet right ventricle, Patent foramen ... |
OMIM:301043 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R... |
OMIM:615994 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Decreased palmar creases, Joint contracture of the hand, Micrognathia, Atrial septa... |
ORPHA:352490 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, 1-4 toe syndactyly, Deeply set eye, Ventricular septal defect, 4-5 finger syn... |
OMIM:617201 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... |
OMIM:618719 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... |
ORPHA:1692 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia ... |
ORPHA:2476 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hip dysplasia, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defec... |
ORPHA:2655 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Radiou... |
ORPHA:2876 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... |
ORPHA:896 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria, Hypotelorism |
OMIM:231950 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Bicuspid aortic valve, Short finger, Clinodactyly,... |
OMIM:300049 |
Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial sept... |
OMIM:614261 |
Cat Eye Syndrome |
|
Micrognathia, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atr... |
OMIM:115470 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Holoprosencephaly, Hydrocephalus |
OMIM:617967 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Retrognathia, High palate, Encephalocele, Micrognathia, Hypoplasia of p... |
ORPHA:861 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, 2-3 toe cutaneous syndactyly, Broad thumb |
OMIM:617364 |
Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Mandibular prognathia, Ventricular septal defect, Micrognathia, Bifid uvula, ... |
OMIM:608572 |
Loeys-Dietz Syndrome 1 |
|
Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, ... |
OMIM:609192 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, C... |
OMIM:613885 |
Chromosome 17Q12 Duplication Syndrome |
|
Deeply set eye, Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad ... |
OMIM:614526 |
Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Retrognathia, Deeply set eye, Perimembranous ventr... |
ORPHA:363444 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Bicuspid aortic valve, ... |
OMIM:618845 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Micrognathia, Polycystic kidney dysplasia, Missing ribs, Radial b... |
OMIM:617866 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly, Trachea... |
OMIM:217980 |
Monosomy 5P |
|
High palate, Finger syndactyly, Small hand, Microretrognathia, Hypertelorism |
ORPHA:281 |
16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Deeply set eye, Toe syndactyly, Microretrognath... |
ORPHA:261211 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Hypospadias, Bilatera... |
ORPHA:1913 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Gastroesophageal reflux, Genu valgum, Mandibular prognathia, Tapered finger, Bicuspid aortic valv... |
OMIM:619721 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Mckusick-Kaufman Syndrome |
|
Ectopic anus, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dy... |
ORPHA:2473 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... |
ORPHA:521308 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial effusion, Camptodactyly, Pericar... |
OMIM:235510 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Delayed eruption of teeth, Abnormality of the ureter, Conical inci... |
ORPHA:289 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Dental malocclusion, High palate, Short 5th finger, Natal tooth, M... |
OMIM:300867 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Camptodactyly of finger, Camptodactyly of toe, Clinodactyly,... |
OMIM:300244 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Missing ribs, Median clef... |
OMIM:184705 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal mal... |
ORPHA:2973 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Hypertelorism, Broad thumb, Broad hallux phalanx... |
ORPHA:261295 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Anal atresia, Tracheoesophageal fistula, Aplasia/Hypoplasia ... |
ORPHA:3169 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Retrognathia, High palate, Micrognathia, Polycystic kidney dysplasia, H... |
ORPHA:314588 |
Tarp Syndrome |
|
Micrognathia, Pulmonary hypoplasia, Hypoplasia of proximal radius, Cleft palate, Glossoptosis, Ro... |
ORPHA:2886 |
Non-Syndromic Metopic Craniosynostosis |
|
Hypotelorism |
ORPHA:3366 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Postaxial foot polydactyly, ... |
OMIM:615981 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand po... |
OMIM:252100 |
Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Micrognathia, Toe syndactyly, Multipl... |
ORPHA:391641 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Adducted thumb, Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Weaver Syndrome |
|
Retrognathia, Camptodactyly of finger, Finger syndactyly, Micrognathia, Hypoplasia of penis, Hype... |
ORPHA:3447 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Proptosis, 2-4 toe syndactyly, Finger... |
OMIM:272440 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Bifid uvula, Camptodactyly, B... |
OMIM:612474 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Abnormal... |
ORPHA:2516 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Gastroesophageal reflux, High palate, Tapered finger, Deeply set eye, Peric... |
OMIM:620070 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, Dental malocclusion, Dee... |
OMIM:619149 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Microretrognathia, Atrial septal defect, Adducted thumb, Hypertelorism, Dys... |
ORPHA:89844 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Retrognathia, Ventricular sept... |
OMIM:614576 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Micrognathia, Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Spindle-shaped finger, Hypertelorism, Cutaneous syndactyly, Delayed ep... |
ORPHA:166024 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele |
OMIM:614465 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Nephronophthisis, ... |
ORPHA:1505 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:3384 |
Cranioectodermal Dysplasia 1 |
|
Stage 1 chronic kidney disease, Radial deviation of finger, Flattened epiphysis, Renal magnesium ... |
OMIM:218330 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Arachnodactyly, High palate, Atrial septal defect, Abnormality of the ureter, Sandal... |
ORPHA:1035 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Micrognathia, Brachydactyly, Hypertelorism, S... |
ORPHA:2145 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Shoulder dislocation, High palate, Cerebral hemorrhage, Bicus... |
ORPHA:536545 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Atrial septal defect, Arachnodactyly, Cleft palate, Malar flattening |
ORPHA:93946 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Micrognathia, Clinodactyly, Brachydactyly, Syndactyly... |
OMIM:600325 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Micrognathia, Shorte... |
OMIM:619135 |
Dyskeratosis Congenita |
|
Anorectal anomaly, Malabsorption, Taurodontia, Esophageal stenosis, Coarse metaphyseal trabecular... |
ORPHA:1775 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Deeply set eye, Clinodactyly, Dilated cardiomyopathy, Unilateral renal agenesis, Ectopic kidney, ... |
OMIM:616541 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
High palate, Hypotelorism |
OMIM:616281 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... |
OMIM:157900 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Abnormal cardiac septum morphology, De... |
ORPHA:2712 |
Halperin-Birk Syndrome |
|
Gastroesophageal reflux, High palate, Perimembranous ventricular septal defect, Pseudobulbar para... |
OMIM:618651 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... |
OMIM:101600 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hypoplastic ilia, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atria... |
ORPHA:1860 |
Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Hypertelori... |
ORPHA:1406 |
Microphthalmia, Isolated, With Coloboma 5 |
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Holoprosencephaly |
OMIM:611638 |
Rubinstein-Taybi Syndrome 2 |
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Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, High palate, Narrow palate, Short f... |
OMIM:613684 |
20Q13.33 Microdeletion Syndrome |
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Tapered finger, Hallux valgus, Dilation of Virchow-Robin spaces, Short lower limbs, Hip dislocati... |
ORPHA:261311 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
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Camptodactyly of finger, Vesicoureteral reflux, 2-3 toe syndactyly, Hallux valgus, Dilation of Vi... |
OMIM:619951 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Coffin-Siris Syndrome 1 |
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Coxa valga, Delayed eruption of teeth, Dislocated radial head, Spina bifida occulta, Cleft palate... |
OMIM:135900 |
Meckel Syndrome, Type 10 |
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Ulnar deviation of the hand, Anencephaly, Camptodactyly, Postaxial foot polydactyly, Postaxial ha... |
OMIM:614175 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Repeated pneumothor... |
OMIM:617602 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Patent foramen ovale, Genu valgum, High palate, Ventricular septal defect, Abnormality of the sph... |
ORPHA:363700 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Hip dislocation, Adducted thumb, Congenital hip dislocation, Hypertelorism, Talipes equinovarus, ... |
OMIM:219150 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Patent ductus arteriosus, Patent foramen ovale, 2-3 toe syndactyly, Genu valgum, Clinodactyly of ... |
OMIM:618870 |
Ventricular Septal Defect 3 |
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Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Noonan Syndrome 2 |
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Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa... |
OMIM:605275 |
Orofaciodigital Syndrome V |
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Lobulated tongue, Bifid tongue, High palate, Ventricular septal defect, Aganglionic megacolon, An... |
OMIM:174300 |
Ring Chromosome 7 Syndrome |
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Genu valgum, Mandibular prognathia, Short 5th finger, Small hand, Hypotelorism, Bifid uvula, Clin... |
ORPHA:1449 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bilateral trilobed lung, Double ... |
OMIM:270100 |
Liebenberg Syndrome |
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Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Melnick-Needles Syndrome |
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Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Coxa valga, Abnormal card... |
ORPHA:2484 |
Buratti-Harel Syndrome |
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Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Velopharyngeal insufficie... |
OMIM:619314 |
Biemond Syndrome Type 2 |
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Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Saethre-Chotzen Syndrome |
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Triphalangeal thumb, Narrow palate, Hallux valgus, Finger syndactyly, Hypotelorism, Clinodactyly ... |
ORPHA:794 |
Chromosome 2Q35 Duplication Syndrome |
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2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Holoprosencephaly 14 |
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Aortic valve atresia, Double outlet right ventricle, Ventricular septal defect, Aqueductal stenos... |
OMIM:619895 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Pelger-Huet Anomaly |
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Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th m... |
OMIM:169400 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Ove... |
OMIM:619148 |
Orofaciodigital Syndrome Type 2 |
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Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T... |
ORPHA:2751 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
Ventriculomegaly With Cystic Kidney Disease |
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Vascular dilatation, Ventricular septal defect, Renal corticomedullary cysts, Hydrocephalus, Rena... |
OMIM:219730 |
Hartsfield Syndrome |
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Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holo... |
OMIM:615465 |
Stankiewicz-Isidor Syndrome |
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Patent ductus arteriosus, Retrognathia, Absent thumb, 2-3 toe syndactyly, Truncus arteriosus, Ven... |
OMIM:617516 |
Aorto-Ventricular Tunnel |
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Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Emanuel Syndrome |
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Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw, Ventricular septa... |
OMIM:609029 |
Adams-Oliver Syndrome |
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Abnormality of the upper limb, Encephalocele, Absent toe, Finger syndactyly, Arteriovenous malfor... |
ORPHA:974 |
Gordon Syndrome |
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Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... |
ORPHA:376 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... |
OMIM:613870 |