Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
Cardioacrofacial Dysplasia 2 |
|
Hypodontia, Left superior vena cava draining to coronary sinus, Short philtrum, Atrioventricular ... |
OMIM:619143 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Polydactyly, Abnormal heart morphology, Syndactyly, Upper limb phocomelia, Abnormal... |
ORPHA:294975 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Hypertelorism,... |
OMIM:217085 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... |
OMIM:264480 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Diastema, Short philtrum, Postaxial polydactyly, Atrioven... |
OMIM:619142 |
Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Proximal placement of thumb, Abs... |
OMIM:314390 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Micrognathia, Hydronephrosis, High palate, Radial deviation of the thumb, Myelomeni... |
ORPHA:2437 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Hypospadias, Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, High pala... |
OMIM:617164 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Cleft palate, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula,... |
ORPHA:261272 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
Meier-Gorlin Syndrome 7 |
|
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Aplasia/Hypoplasi... |
OMIM:617063 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Micrognathia, Cleft palate, Anencephaly, Aplasia/Hypoplas... |
ORPHA:1908 |
Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... |
OMIM:612946 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Hypodontia, Capitate-hamate fusion, Talipes equinovarus, Hypoplastic iliac wing, Cle... |
OMIM:225500 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618498 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Abnormality of the philtrum, Hypotelorism, Tetralogy of Fallot, Abnormality of the d... |
ORPHA:276422 |
Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
White Forelock With Malformations |
|
Bronchomalacia, Hypertelorism, Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia... |
OMIM:277740 |
6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Hydronephrosis, Hypotelorism, Patent ductus arteriosus, Finger syndac... |
ORPHA:251046 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Abnormal morphology of the radius, Hypotelorism, Anal atresia, Atrial ... |
ORPHA:3469 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Micrognathia, Dysphagia, Abnormal heart morphology, Hypotelorism, Malar flattening, ... |
OMIM:300978 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Hypotelorism, Patent ductus arteriosus, Downturned corners of mouth, A... |
OMIM:618974 |
Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Acalvaria |
|
Cleft palate, Abnormal lung lobation, Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephal... |
ORPHA:945 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Micrognathia, Cleft palate, Hamartoma of tongue, Postaxia... |
OMIM:617925 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Weyers Acrofacial Dysostosis |
|
Solitary median maxillary central incisor, Hypotelorism, Conical tooth, Postaxial foot polydactyl... |
OMIM:193530 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Micrognathia, 2-3 toe syndactyly, High palate, Eruption f... |
ORPHA:476126 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Abnormality of epiphysis morphology, Hyper... |
ORPHA:1388 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
Down Syndrome |
|
Complete atrioventricular canal defect, Broad palm, Aganglionic megacolon, Duodenal stenosis, Hyp... |
OMIM:190685 |
Vacterl/Vater Association |
|
Hypospadias, Tracheal stenosis, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Cleft palate, An... |
ORPHA:887 |
Holoprosencephaly 5 |
|
High palate, Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Hypertelorism, Deep philtr... |
OMIM:609637 |
Triploidy |
|
Meningocele, Hypospadias, Micrognathia, Cleft palate, Wide mouth, Holoprosencephaly, Macroglossia... |
ORPHA:3376 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Hydronephrosis, Hand oligodactyly, Proximal radial head dislocation, Cleft palate, ... |
OMIM:602418 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... |
ORPHA:2538 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Cleft ... |
ORPHA:3378 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Coarctation of aorta, Hypertelorism, Foot polydactyly, H... |
ORPHA:268249 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Bilateral radial aplasia, Co... |
OMIM:300514 |
Distal Monosomy 13Q |
|
Anencephaly, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Hypertelorism, Anal atresia, Abn... |
ORPHA:1590 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... |
OMIM:265380 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Syndactyly, Thin upper lip vermilion, Radiouln... |
OMIM:614701 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Abnormality of the metaphysis, Patent ductus ... |
ORPHA:93274 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Hydranencephaly, Adducted thumb, Holoprosencephaly... |
ORPHA:2570 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Polydactyly, Hypertelorism, Short phalanx of finger, Esophageal atresia, C... |
ORPHA:59315 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate, Hypotelorism, Broad alveolar ridges, Clinodactyly of the ... |
OMIM:314320 |
Lambotte Syndrome |
|
Ventricular septal defect, Hypertelorism, Narrow mouth, Retrognathia, Semilobar holoprosencephaly... |
OMIM:245552 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Hydronephrosis, Abnorma... |
ORPHA:1834 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Frontoocular Syndrome |
|
Micrognathia, High palate, Hypotelorism, Pulmonic stenosis, Narrow philtrum, Atrial septal defect... |
OMIM:605321 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aort... |
OMIM:600987 |
Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Esophag... |
ORPHA:1923 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, High palate, Hypotelorism, Fifth finger distal phalanx clinodactyly, B... |
ORPHA:3369 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Aganglionic megacolon, Duodenal... |
ORPHA:210122 |
Delpire-Mcneill Syndrome |
|
Hip dislocation, Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Cranioectodermal Dysplasia |
|
Hypodontia, Microdontia, Rhizomelia, Hypotelorism, Abnormal dental enamel morphology, Abnormality... |
ORPHA:1515 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, High palate, Long philtrum, Double outlet right ventricl... |
ORPHA:2209 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Mandibular prognathia, Hypotelorism, Malar flattening, Abnormality of fing... |
ORPHA:2511 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cleft palate, Smooth philtrum, Patent ductus arteriosus, Cleft lip, Thin upper lip vermilion, Dee... |
OMIM:618454 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Ventricular septal defect, Holoprosencephaly, Esophageal atresia, Patent ductus arte... |
ORPHA:77298 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Micrognathia, High palate, Long philtrum, Hyperteloris... |
ORPHA:261120 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, High palate, Short philtrum, Ulnar deviation of finger, Hypotelorism, Malar flatten... |
ORPHA:1387 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Atrial septal defect, Postax... |
ORPHA:52056 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... |
OMIM:608978 |
Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p... |
ORPHA:2935 |
Congenital Contractural Arachnodactyly |
|
High palate, Mitral valve prolapse, Duodenal atresia, Arachnodactyly, Intestinal malrotation, Aor... |
ORPHA:115 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Epiphyseal stippling, Bowing of the long bones, Hypotelorism, Patent ductus arteriosu... |
ORPHA:1952 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Mitral atresia, Double outlet right ve... |
OMIM:306955 |
Ring Chromosome 21 Syndrome |
|
Narrow palm, Holoprosencephaly, Abnormal heart morphology, Small hand, Syndactyly, Clinodactyly |
ORPHA:1445 |
Monosomy 13Q34 |
|
Micrognathia, Hypertelorism, Pulmonic stenosis, Postaxial foot polydactyly, Postaxial hand polyda... |
ORPHA:96168 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Pericardial effusion, Talipes equinovarus, Adducted thumb, Hand clenching, Hypotelor... |
OMIM:617822 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Atrioventricular canal defect, Hypoteloris... |
OMIM:619123 |
Mosaic Trisomy 9 |
|
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... |
ORPHA:99776 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobati... |
ORPHA:1120 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Hypotelorism, Malar flattening, Congenital hip dislocation, Hypertelori... |
OMIM:612940 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Hydronephrosis, Rectovaginal fistula, Hyp... |
ORPHA:1780 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft palate, Cleft upper lip, Limb undergrowth, Hypotelorism, Joint contracture of the hand, Ove... |
OMIM:601016 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Postaxial polydactyly, Hypertelorism, Paten... |
OMIM:618142 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Hydronephrosis, Cleft palate, Congenital megaureter, H... |
ORPHA:261344 |
Fanconi Anemia |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Cleft palate, Triphalangeal ... |
ORPHA:84 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Micrognathia, Broad hallux phalanx, Toe syndactyly, Abnormal palat... |
ORPHA:3082 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Bilateral cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Cleft upper... |
OMIM:601357 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Upper limb underg... |
OMIM:236680 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Cleft palate, Aglossia, Holoprosencephaly, Situs inversus totalis, Mandibular aplas... |
OMIM:202650 |
Distal Monosomy 7Q36 |
|
Micrognathia, Cleft palate, Wide mouth, Holoprosencephaly, Symphalangism affecting the phalanges ... |
ORPHA:1636 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, High palate, Short philtrum, Hypoplastic scapulae, Abnormal lung lobation, Hypoplas... |
ORPHA:958 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Triphalangeal thumb, Phocomelia, Atriovent... |
ORPHA:392 |
Baller-Gerold Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Micrognathia, Ap... |
ORPHA:1225 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the ureter, Abnormal tracheal morphology, Duodenal atre... |
ORPHA:141127 |
Pallister-Hall Syndrome |
|
Cleft palate, Microglossia, Distal shortening of limbs, Patent ductus arteriosus, Micropenis, Syn... |
OMIM:146510 |
3C Syndrome |
|
Hypospadias, Cleft palate, Finger syndactyly, Hydrocephalus, Hand polydactyly, Recurrent respirat... |
ORPHA:7 |
Distal Monosomy 10Q |
|
Cleft palate, Smooth philtrum, Short metatarsal, Patent ductus arteriosus, Thin upper lip vermili... |
ORPHA:96148 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Short 5th toe, Micrognathia, Short middle phalanx of finger, Short 2nd toe, Talipe... |
OMIM:211920 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Hypoplastic right heart, Split foot |
OMIM:601348 |
Opitz Gbbb Syndrome |
|
Hypospadias, Cleft palate, Aortic root aneurysm, Patent ductus arteriosus, Cleft lip, Ventricular... |
ORPHA:2745 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Long fing... |
OMIM:618316 |
Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect |
OMIM:617744 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Micrognathia, Cleft palate, Ulnar deviation of the hand, Ulnar deviation of the hand... |
OMIM:612651 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypospadias, Micrognathia, Cleft palate, Abnormal lung lobation, Holoprosencephaly, Hypotelorism,... |
ORPHA:2166 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flat... |
ORPHA:439822 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Abnormal heart morphology, Absent tibia, Polydactyly |
OMIM:188740 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Micrognathia, Hydronephrosis, Cleft palate, Double outlet... |
OMIM:220210 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Short philtrum, Tapered finger, Mandibular prognathia, Hypotelorism, Small hand, Malar flattening... |
OMIM:618672 |
Congenital Tracheomalacia |
|
Single ventricle, Patent ductus arteriosus, Double aortic arch, Emphysema, Ventricular septal def... |
ORPHA:95430 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft palate, Talipes equinovarus, Holoprosencephaly, Cleft upper lip, Hypotelorism, Deeply set eye |
OMIM:612530 |
Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Short ribs, Patent ductus arteriosus, Hydrocephalus, Short toe, Short long b... |
OMIM:269860 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Micrognathia, Abnormal mitral valve morphology, Mesomelia, Tooth agen... |
ORPHA:1277 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Eve... |
OMIM:249670 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Fanconi Anemia, Complementation Group D2 |
|
Horseshoe kidney, Abnormal heart morphology, Ectopic kidney, Pelvic kidney, Hypotelorism, Hyperte... |
OMIM:227646 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Duodenal atresia, Abnormal lung lobation, Rhizomelia, Co... |
OMIM:614114 |
Opitz Gbbb Syndrome, Type Ii |
|
Hypospadias, Smooth philtrum, Cleft palate, Patent ductus arteriosus, Thin upper lip vermilion, V... |
OMIM:145410 |
Fanconi Anemia, Complementation Group L |
|
Renal hypoplasia, Cleft palate, Hypertelorism, Esophageal atresia, Anal atresia, Micropenis, Hydr... |
OMIM:614083 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
2Q23.1 Microduplication Syndrome |
|
Wide mouth, Hypotelorism, Sandal gap, Broad hallux, Thin upper lip vermilion, Abnormality of the ... |
ORPHA:313947 |
Non-Distal Trisomy 13Q |
|
Micrognathia, High palate, Long philtrum, Hypotelorism, Thin vermilion border, Arachnodactyly, Ev... |
ORPHA:1702 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Cleft palate, Smooth philtrum, Polydactyly, Short philtrum, Long philtrum, Coarctat... |
OMIM:301022 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Schisis Association |
|
Cleft palate, Anencephaly, Anal atresia, Unilateral cleft lip, Spina bifida, Tracheoesophageal fi... |
ORPHA:63862 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Micrognathia, High palate, Mitral valve prolapse, Short philtrum, Wide mouth, Hypotelorism, Hyper... |
OMIM:300986 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
Synpolydactyly 2 |
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Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microgloss... |
OMIM:270400 |
Esophageal Atresia |
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Pyloric stenosis, Cleft palate, Duodenal atresia, Morphological abnormality of the gastrointestin... |
ORPHA:1199 |
Harrod Syndrome |
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Hypospadias, High, narrow palate, Pyloric stenosis, High palate, Aganglionic megacolon, Hypotelor... |
OMIM:601095 |
Laryngotracheoesophageal Cleft Type 4 |
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Tracheal stenosis, Intestinal atresia, Tracheoesophageal fistula, Abnormal cardiac septum morphology |
ORPHA:93941 |
Orofaciodigital Syndrome Xvii |
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Renal hypoplasia, High, narrow palate, Polydactyly, Median cleft lip, Micropenis, Tetralogy of Fa... |
OMIM:617926 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Microcephaly, Autosomal Dominant |
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Broad thumb, Hypotelorism, Broad hallux, Increased overbite |
OMIM:156580 |
Meckel Syndrome, Type 1 |
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Cleft palate, Patent ductus arteriosus, Foot polydactyly, Syndactyly, Vascular dilatation, Hydroc... |
OMIM:249000 |
Acrootoocular Syndrome |
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High, narrow palate, Micrognathia, Decreased palmar creases, Short finger, Supernumerary tooth, S... |
ORPHA:2980 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Hydronephrosis, Cleft palate, Smooth philtrum, Postaxial polydactyly, Tapered finger, Long philtr... |
OMIM:300968 |
Polydactyly, Postaxial, Type A8 |
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Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Bardet-Biedl Syndrome 7 |
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2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypertelorism, Malar flattening, Narrow m... |
OMIM:615984 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Abnormal palate morphology, Abnormal hip bone morphology, Hypertelorism, Craniofacial hyperostosi... |
ORPHA:3068 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Micrognathia, High palate, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral ... |
OMIM:602471 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
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Micrognathia, High palate, Supernumerary tooth, Hypotelorism, Delayed eruption of teeth, Finger s... |
OMIM:264475 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Polydactyly, Postaxial, Type A7 |
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Postaxial polydactyly |
OMIM:617642 |
Diamond-Blackfan Anemia 6 |
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Ventricular septal defect, Micrognathia, Mitral valve prolapse, Triphalangeal thumb, Cleft palate... |
OMIM:612561 |
Acropectoral Syndrome |
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Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
16P13.11 Microdeletion Syndrome |
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Ventricular septal defect, Cleft palate, Smooth philtrum, Wide mouth, Talipes equinovarus, Holopr... |
ORPHA:261236 |
Developmental And Epileptic Encephalopathy 87 |
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Widely spaced teeth, High palate, Wide mouth, U-Shaped upper lip vermilion, Hypertelorism, Hypote... |
OMIM:618916 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the radius... |
ORPHA:818 |
Faciocardiomelic Syndrome |
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Micrognathia, Polydactyly, Wide mouth, Long philtrum, Hyperplasia of the maxilla, Slender long bo... |
OMIM:612731 |
Adams-Oliver Syndrome 4 |
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Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe |
OMIM:615297 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Esophageal varix, Patent ductus arteriosus, Medullary nephrocalcinosis, Syndactyly, Hydrocephalus... |
OMIM:619534 |
Trisomy 18 |
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Cleft palate, Deviation of finger, Camptodactyly of finger, Cyclopia, Microretrognathia, Ventricu... |
ORPHA:3380 |
10Q22.3Q23.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Curved middle phalanx of the 4th toe, Hypotelorism, Hypertelorism,... |
ORPHA:276413 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Syndactyly Type 1 |
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Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Bardet-Biedl Syndrome 12 |
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Polydactyly |
OMIM:615989 |
Oculodentodigital Dysplasia |
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Carious teeth, Cleft palate, Palmoplantar keratoderma, Abnormal dental enamel morphology, Finger ... |
ORPHA:2710 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Cleft palate, Radial club hand, Holoprosencephaly, Hypertelorism, Abnormality of the radius, Prop... |
ORPHA:2165 |
Suleiman-El-Hattab Syndrome |
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Thick lower lip vermilion, Ventricular septal defect, Hydronephrosis, Smooth philtrum, Polydactyl... |
OMIM:618950 |
Phocomelia, Schinzel Type |
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Fibular aplasia, Meningocele, Micrognathia, Radial bowing, Hand oligodactyly, Hypoplasia of penis... |
ORPHA:2879 |
8P23.1 Duplication Syndrome |
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Toe syndactyly, Ventricular septal defect, Hydronephrosis, Long philtrum, Hypertelorism, Pulmonic... |
ORPHA:251076 |
Hereditary Mucoepithelial Dysplasia |
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Hematuria, Gingival overgrowth, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pu... |
ORPHA:1839 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Duodenal atresia, Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistu... |
OMIM:619227 |
Oculoauriculovertebral Spectrum With Radial Defects |
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Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Cleft palate, Wide mouth, Ectopic anus, Atr... |
ORPHA:2549 |
Filippi Syndrome |
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Ventricular septal defect, Hypodontia, Microdontia, Short philtrum, Thin vermilion border, 2-4 to... |
OMIM:272440 |
Ritscher-Schinzel Syndrome 2 |
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Ventricular septal defect, Short philtrum, Hypertelorism, Patent ductus arteriosus, Protruding to... |
OMIM:300963 |
8P23.1 Microdeletion Syndrome |
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Hypertrophic cardiomyopathy, Broad hallux phalanx, Micrognathia, Abnormal aortic morphology, Hypo... |
ORPHA:251071 |
Schilbach-Rott Syndrome |
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Hypospadias, Micrognathia, Hypotelorism, Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth,... |
OMIM:164220 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
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Ventricular septal defect, Micrognathia, Anteriorly placed anus, Atrioventricular canal defect, A... |
OMIM:600123 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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High palate, Long philtrum, Hypertelorism, Hypotelorism, Thin upper lip vermilion, Single transve... |
OMIM:613544 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Renal hypoplasia, Micrognathia, Oligodontia, Hypotelorism, Down-sloping shoulders, Downturned cor... |
OMIM:616817 |
Recombinant Chromosome 8 Syndrome |
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Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Hydronephrosis, Double outlet... |
OMIM:179613 |
Li-Campeau Syndrome |
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Ventricular septal defect, Long philtrum, Gastrointestinal dysmotility, Hypertelorism, Patent duc... |
OMIM:619189 |
1Q41Q42 Microdeletion Syndrome |
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Cleft palate, Talipes equinovarus, Holoprosencephaly, Hypotelorism, Thick vermilion border, Pulmo... |
ORPHA:250999 |
Tricuspid Atresia |
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Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
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Tapered finger, Holoprosencephaly, Short finger, Micropenis, Short toe, Brachydactyly |
OMIM:610680 |
Prader-Willi Syndrome Due To Translocation |
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Carious teeth, Cleft palate, Microdontia of primary teeth, Patent ductus arteriosus, Thin upper l... |
ORPHA:177907 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Holoprosencephaly, Situs inversus totalis, Mandibular aplasia, Microglossia, Narrow mouth, Cyclop... |
ORPHA:990 |
Braddock Syndrome |
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Micrognathia, Hypotelorism, Missing ribs, Pulmonary fibrosis, Unilateral renal agenesis, Preaxial... |
ORPHA:52047 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Phocomelia, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Median cleft lip, Hypotelorism, M... |
ORPHA:3186 |
Hartsfield Syndrome |
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Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Hypertelorism, Split han... |
ORPHA:2117 |
Infantile Myofibromatosis |
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Abnormal intestine morphology, Neoplasm of the lung, Abnormality of the metaphysis, Intestinal ob... |
ORPHA:2591 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Syndac... |
OMIM:228940 |
Microform Holoprosencephaly |
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Cleft palate, Short philtrum, Duodenal atresia, Holoprosencephaly, Solitary median maxillary cent... |
ORPHA:280200 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
Monosomy 18P |
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Carious teeth, Micrognathia, Cleft palate, Hypodontia, Short philtrum, Holoprosencephaly, Tooth m... |
ORPHA:1598 |
Congenital Hypothyroidism |
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Sinusitis, Macroglossia, Abnormality of epiphysis morphology, Nephrolithiasis, Intestinal obstruc... |
ORPHA:442 |
Timothy Syndrome |
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Ventricular septal defect, Microdontia, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndac... |
OMIM:601005 |
Burn-Mckeown Syndrome |
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Renal hypoplasia, Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, Shor... |
OMIM:608572 |
Chromosome 3Pter-P25 Deletion Syndrome |
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Micrognathia, High palate, Tapered finger, Atrioventricular canal defect, Postaxial polydactyly, ... |
OMIM:613792 |
Charge Syndrome |
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Arrhinencephaly, Absent tibia, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Malar ... |
OMIM:214800 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Tapered finger, Long fingers, Malar flattening, Proximal placement of ... |
OMIM:613458 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
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Micrognathia, Abnormal heart morphology, Micropenis, Abnormal tracheobronchial morphology, Microp... |
OMIM:218450 |
8Q24.3 Microdeletion Syndrome |
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Smooth philtrum, Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Thin ... |
ORPHA:508488 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Limited elbow extension, Tapered finger |
OMIM:300706 |
3P25.3 Microdeletion Syndrome |
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Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... |
ORPHA:435638 |
Vater/Vacterl Association |
|
Hypospadias, Patent urachus, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arterio... |
OMIM:192350 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Hypotelorism |
OMIM:619091 |
Holoprosencephaly 11 |
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Cleft palate, Holoprosencephaly, Hypotelorism, Cleft lip, Proptosis |
OMIM:614226 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Deviation of the 5th toe, Oligodontia, Long philtrum, Short philtrum, Hypotelorism,... |
ORPHA:391408 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft palate, Palmoplantar cutis laxa, Mandibular prognathia, Cleft upper lip, Hypotelorism, Mala... |
OMIM:268850 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Charlie M Syndrome |
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Micrognathia, Triphalangeal thumb, Short philtrum, Hypertelorism, Thin vermilion border, Finger s... |
ORPHA:1406 |
Feingold Syndrome 1 |
|
Micrognathia, 2-3 toe syndactyly, High palate, 4-5 toe syndactyly, Duodenal atresia, Aplasia/Hypo... |
OMIM:164280 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, 2-3 toe syndactyly, High palate, Persistent left superior vena cava, Double outlet ... |
ORPHA:3304 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Cleft palate, Smooth philtrum, Broad hallux, Thin upper lip vermilion, Campto... |
OMIM:301044 |
Holoprosencephaly |
|
Hydrocephalus, Hand polydactyly, Cyclopia, Intestinal atresia, Tooth agenesis, Deeply set eye, Sp... |
ORPHA:2162 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Smooth philtrum, Adducted thumb, Rocker bottom foot, Short philtrum, Mandibular prognathia, Hypot... |
OMIM:618622 |
Trisomy 18P |
|
Pyloric stenosis, High, narrow palate, Micrognathia, Hypotelorism, Thin vermilion border, Abnorma... |
ORPHA:1715 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... |
ORPHA:65759 |
49,Xxxxy Syndrome |
|
Carious teeth, Arrhinencephaly, Cleft palate, Talipes equinovarus, Abnormal dental enamel morphol... |
ORPHA:96264 |
Mental Retardation, Autosomal Dominant 21 |
|
Cleft palate, Long philtrum, Incisor macrodontia, Coarctation of aorta, Hypertelorism, Thin vermi... |
OMIM:615502 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Delayed e... |
OMIM:113000 |
Mend Syndrome |
|
2-3 toe syndactyly, High palate, Microretrognathia, Polydactyly, Long fingers, Overlapping finger... |
OMIM:300960 |
Acrocraniofacial Dysostosis |
|
Metatarsus adductus, Micrognathia, Cleft palate, Short philtrum, Hypotelorism, Short 1st metacarp... |
OMIM:201050 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Tongue fasciculations, Recurrent respiratory inf... |
OMIM:253300 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Cleft palate, Abnormality of... |
ORPHA:1166 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
Koolen-De Vries Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Aortic root aneurysm, Patent ductus arteri... |
OMIM:610443 |
Charge Syndrome |
|
Cleft palate, Delayed eruption of teeth, Patent ductus arteriosus, Micropenis, Abnormality of tib... |
ORPHA:138 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Smooth philtrum, Polydactyly, Hypertelorism, Syndactyly, Hydrocephalus |
OMIM:602501 |
Jacobsen Syndrome |
|
Hypospadias, Pyloric stenosis, Ventricular septal defect, Micrognathia, U-Shaped upper lip vermil... |
OMIM:147791 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Abnormality of the philtrum, Finger syndactyly, Abnormality of the dent... |
ORPHA:3268 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Mcdonough Syndrome |
|
Ventricular septal defect, Micrognathia, Short philtrum, Mandibular prognathia, Hypertelorism, Fu... |
OMIM:248950 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Micrognathia, Smooth philtrum, Hyperextensibility of the finger joints, Long philtrum, Rhizomelia... |
OMIM:618821 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Cleft palate, High palate, Postaxial polydactyly, Cleft upper lip, ... |
OMIM:277170 |
Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Polydactyly, Cleft palate, Hypertelorism, Syndactyly... |
OMIM:300484 |
Mental Retardation, Autosomal Recessive 13 |
|
Smooth philtrum, Short philtrum, Cleft upper lip, Hypertelorism, Hypotelorism, Downturned corners... |
OMIM:613192 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cleft palate, Peripheral pulmonary artery stenosis, Oligodontia, Cubitus valg... |
ORPHA:2712 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Toe syndactyly, Abnormal palate morphology, Cleft palate, Ulnar deviation of finger,... |
ORPHA:921 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Long philtrum, Ventricular hypertrophy, Hypertelorism, Sandal gap, Atrial septal defect, Tetralog... |
OMIM:300887 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Cleft palate, Abnormal heart morphology, Microglossia, Short ribs, Hip dislocation,... |
OMIM:241800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Irregular dentition, Hypertelorism, Intestinal lymphangiectasia, Synd... |
OMIM:616006 |
Galloway-Mowat Syndrome |
|
Micrognathia, Adducted thumb, Nephrotic syndrome, Hypotelorism, Hypertelorism, Hiatus hernia, Nep... |
ORPHA:2065 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... |
OMIM:610140 |
Pentasomy X |
|
Micrognathia, Hypertelorism, Small hand, Patent ductus arteriosus, Short foot, Hip dysplasia, Abn... |
ORPHA:11 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypospadias, Smooth philtrum, Patent ductus arteriosus, Micropenis, Unilateral ren... |
ORPHA:363444 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Arachnodactyly, Transposition of the great arter... |
ORPHA:261243 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Mosaic Variegated Aneuploidy Syndrome |
|
Micrognathia, Abnormal aortic morphology, Cleft palate, Duodenal atresia, Stomach cancer, Abnorma... |
ORPHA:1052 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Kennerknecht Syndrome |
|
Toe syndactyly, Hypodontia, High palate, Hypotelorism, Toe clinodactyly, Acetabular dysplasia, De... |
OMIM:600908 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Short philtrum, Hypotelorism, Pulmonary hemorrhage, Aminoaciduria, Proteinuria, Clinodactyly, Dee... |
OMIM:603585 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Micrognathia, High palate, Intestinal malrotation, Narrow palate, Increased overbi... |
OMIM:613684 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Renal hypoplasia, Single transverse palmar crease, High palate, Hypo... |
OMIM:619053 |
Lowry-Maclean Syndrome |
|
Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Pyloric stenosis, Midgut malrotatio... |
ORPHA:2409 |
Hypertelorism And Tetralogy Of Fallot |
|
Hypospadias, Talipes equinovarus, Long philtrum, Hypertelorism, Patent ductus arteriosus, Tetralo... |
OMIM:239711 |
Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Ellis Van Creveld Syndrome |
|
Hypospadias, Capitate-hamate fusion, Cubitus valgus, Delayed eruption of teeth, Foot polydactyly,... |
ORPHA:289 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Acrocardiofacial Syndrome |
|
Hypospadias, Hallux valgus, Cleft palate, Truncus arteriosus, Mitral stenosis, Finger syndactyly,... |
ORPHA:2008 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Malar flattening, Hydrocephalus, C... |
ORPHA:90652 |
Shashi-Pena Syndrome |
|
Hypertelorism, Atrial septal defect, Proptosis, Retrognathia, Deep palmar crease |
OMIM:617190 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding, Abnormality of the mouth |
OMIM:600195 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... |
OMIM:617927 |
Treacher-Collins Syndrome |
|
Cleft palate, Malar flattening, Abnormal dental enamel morphology, Patent ductus arteriosus, Hypo... |
ORPHA:861 |
Mental Retardation, Autosomal Dominant 7 |
|
Thick lower lip vermilion, Hallux valgus, Micrognathia, Smooth philtrum, Hypotelorism, Thin upper... |
OMIM:614104 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... |
ORPHA:1329 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, Hypospadias, High palate, Wide mouth, Mandibular prognathia, Hypertelorism, Atrial... |
OMIM:249630 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal... |
OMIM:608227 |
Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Micrognathia, Cleft palate, Hamartoma of tongue, Postaxial polydactyly... |
OMIM:615948 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Delay... |
ORPHA:2863 |
Vacterl With Hydrocephalus |
|
Micrognathia, Arrhinencephaly, Absence of the sacrum, Hypoplasia of the radius, Esophageal atresi... |
ORPHA:3412 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, High, narrow palate, Micrognathia, Abnormal tracheal morphology, Deep palmar crease,... |
ORPHA:2872 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Micrognathia, Cleft palate, Cleft upper lip, Double outle... |
OMIM:231060 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Cleft palate, Duodenal atresia, Submucous cleft hard pal... |
OMIM:301043 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Micrognathia, Smooth philtrum, High palate, Duodenal atre... |
OMIM:616975 |
Postaxial Oligodactyly, Tetramelic |
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Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
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Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Endocardial Fibroelastosis |
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Abnormal palate morphology, Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy,... |
ORPHA:2022 |
Tarp Syndrome |
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Horseshoe kidney, Micrognathia, Hydronephrosis, Cleft palate, High palate, Talipes equinovarus, P... |
OMIM:311900 |
Pulmonary Atresia With Ventricular Septal Defect |
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Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
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Hypertelorism, Malar flattening, Congenital hip dislocation, Patent ductus arteriosus, Atrial sep... |
OMIM:601450 |
Congenital Disorder Of Glycosylation, Type Iu |
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High palate, Micrognathia, Hypotelorism, Thin upper lip vermilion |
OMIM:615042 |
Chromosome 5P13 Duplication Syndrome |
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High palate, Short philtrum, Large hands, Long fingers, Hypertelorism, Hypotelorism, Proptosis |
OMIM:613174 |
Ulnar Hemimelia |
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Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Holoprosencephaly, Hypotelorism, Short distal phalanx of finger, Hypoplastic vertebral bodies, Co... |
ORPHA:2163 |
Mosaic Trisomy 1 |
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Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Micrope... |
ORPHA:1692 |
Autosomal Recessive Amelia |
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Amelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Non-midl... |
ORPHA:1027 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Renal hypoplasia, Ventricular septal defect, Micrognathia, Hypoplasia of penis, Hypertelorism, Fi... |
ORPHA:2256 |
Pallister-Hall Syndrome |
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Hypospadias, Arrhinencephaly, Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Recu... |
ORPHA:672 |
Penile Agenesis |
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Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Pu... |
ORPHA:49 |
Chromosome 17Q12 Duplication Syndrome |
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Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia, Deeply set eye, Atrial sept... |
OMIM:614526 |
Hydrolethalus Syndrome 2 |
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Preaxial polydactyly, Hydrocephalus, Anencephaly, Postaxial polydactyly |
OMIM:614120 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
Harrod Syndrome |
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Hypospadias, High palate, Hypotelorism, Arachnodactyly, Multicystic kidney dysplasia, Narrow mout... |
ORPHA:2115 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Micrognathia, Decreased palmar creases, Narrow palm, Short philtrum, Abnormal heart morphology, H... |
ORPHA:352490 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Cutaneous finger syndactyly, Smooth philtrum, Rectal prolapse, Talipes equinovarus, Oligodontia, ... |
OMIM:235510 |
Syndactyly Type 5 |
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2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Carious teeth, Hypospadias, Ventricular septal defect, High palate, Pneumothorax, Coarctation of ... |
OMIM:617602 |
Greig Cephalopolysyndactyly Syndrome |
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1-3 toe syndactyly, Broad hallux phalanx, Hypospadias, Broad thumb, Abnormal heart morphology, 3-... |
OMIM:175700 |
Vici Syndrome |
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High palate, Renal tubular acidosis, Hypotelorism, Hypertelorism, Cardiomyopathy, Recurrent respi... |
ORPHA:1493 |
Syndactyly Type 3 |
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Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
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Micrognathia, Cleft palate, High palate, Talipes equinovarus, Abnormality of the elbow, Ulnar dev... |
ORPHA:93359 |
20P12.3 Microdeletion Syndrome |
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Broad hallux phalanx, Long philtrum, Hypertelorism, Malar flattening, Atrial septal defect, Narro... |
ORPHA:261295 |
Wahab Syndrome |
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Adducted thumb, Short foot, Short thumb, Short metacarpal, Syndactyly, Short palm, Camptodactyly,... |
OMIM:615170 |
Mosaic Trisomy 16 |
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Hypospadias, Short forearm, Patent ductus arteriosus, Syndactyly, Abnormal lung morphology, Ventr... |
ORPHA:1708 |
Carpenter Syndrome 1 |
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Genu varum, Hydroureter, Malar flattening, Joint contracture of the hand, Patent ductus arteriosu... |
OMIM:201000 |
Grange Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm |
ORPHA:79094 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Bilateral cleft lip and palate, Micrognathia, Abnormal aortic morphology, Hypertelorism, Patent d... |
ORPHA:2001 |
Bardet-Biedl Syndrome 10 |
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Renal insufficiency, Renal cyst, Polydactyly |
OMIM:615987 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Pyloric stenosis, Micrognathia, Hydronephrosis, Rectal prolapse, Pulmonary hypoplasia, Bronchomal... |
OMIM:613177 |
Mohr Syndrome |
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Cleft palate, Metaphyseal irregularity, Malar flattening, Accessory oral frenulum, Syndactyly, Hy... |
OMIM:252100 |
Lymphedema, Primary, With Myelodysplasia |
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Long fingers, Hypotelorism, Tapered finger |
OMIM:614038 |
Joubert Syndrome 18 |
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Horseshoe kidney, Ventricular septal defect, Polydactyly, Camptodactyly |
OMIM:614815 |
Grange Syndrome |
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Bicuspid aortic valve, Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertensi... |
OMIM:602531 |
Chromosome 3Q13.31 Deletion Syndrome |
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High, narrow palate, High palate, Short philtrum, Hypertelorism, Micropenis, Alobar holoprosencep... |
OMIM:615433 |
Ritscher-Schinzel Syndrome 4 |
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Dysphagia, High palate, Ulnar deviation of the hand, Narrow palm, Tapered finger, Wide mouth, Sho... |
OMIM:619435 |
Williams Syndrome |
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Carious teeth, Bicuspid aortic valve, Hallux valgus, Rectal prolapse, Peripheral pulmonary artery... |
ORPHA:904 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Acitretin/Etretinate Embryopathy |
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Conotruncal defect, Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Abnormality of ... |
ORPHA:40366 |
Char Syndrome |
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Toe syndactyly, Ventricular septal defect, Symphalangism of the 5th finger, Triangular mouth, Mes... |
ORPHA:46627 |
Adams-Oliver Syndrome 6 |
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Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Syndactyly, Fo... |
OMIM:616589 |
Robinow Syndrome, Autosomal Dominant 3 |
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Cleft palate, Patent ductus arteriosus, Cleft lip, Micropenis, Syndactyly, Camptodactyly, Short p... |
OMIM:616894 |
Spinal Muscular Atrophy With Mental Retardation |
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Syndactyly |
OMIM:271109 |
16P11.2P12.2 Microdeletion Syndrome |
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Toe syndactyly, Hypotelorism, Proximal placement of thumb, Bilateral single transverse palmar cre... |
ORPHA:261211 |
Orofaciodigital Syndrome Type 2 |
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Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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Cutaneous syndactyly |
OMIM:616890 |
8Q12 Microduplication Syndrome |
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Ventricular septal defect, Long philtrum, Short foot, Atrial septal defect, Narrow mouth, Everted... |
ORPHA:228399 |
Hamel Cerebro-Palato-Cardiac Syndrome |
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Micrognathia, Cleft palate, Malar flattening, Arachnodactyly, Atrial septal defect, Narrow mouth |
ORPHA:93946 |
Thrombocytopenia-Absent Radius Syndrome |
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Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Aplasia/Hypoplasia of the patel... |
ORPHA:3320 |
Degcags Syndrome |
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Hypospadias, Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Patent ductus arteriosus, Sy... |
OMIM:619488 |
Cranioectodermal Dysplasia 1 |
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Bicuspid aortic valve, Triphalangeal hallux, Tubulointerstitial nephritis, Broad toe, Short ribs,... |
OMIM:218330 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Hypospadias, Tracheal stenosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Hypertelorism,... |
OMIM:217980 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Metatarsus adductus, Cleft palate, Long palm, Talipes equinovarus, Tapered finger, Ulnar deviatio... |
ORPHA:2215 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Abnormality of the upper limb, Hypertelorism, Downturned corners of mouth, Clinodactyly of the 3r... |
ORPHA:521308 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Hypospadias, Pyloric stenosis, Talipes equinovarus, Delayed eruption of teeth, Patent ductus arte... |
OMIM:619148 |
Terminal Osseous Dysplasia |
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Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... |
OMIM:300244 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Ventricular septal defect, Postaxial polydactyly, Long philtrum, Short ribs, Hypoplasia of the ra... |
OMIM:617895 |
Orofaciodigital Syndrome I |
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Carious teeth, Cleft palate, Syndactyly, Vascular dilatation, Hydrocephalus, Microretrognathia, A... |
OMIM:311200 |
Trigonocephaly 1 |
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Hypotelorism, Long penis, Meckel diverticulum |
OMIM:190440 |
Lujan-Fryns Syndrome |
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Micrognathia, High palate, Short philtrum, Arachnodactyly, Abnormality of the dentition, Atrial s... |
ORPHA:776 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Talipes equinovarus, Aor... |
OMIM:610168 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Hypospadias, Metatarsus adductus, Micrognathia, Cleft palate, High, narrow palate, Abnormality of... |
ORPHA:436003 |
Coffin-Siris Syndrome 1 |
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Hypospadias, Duodenal ulcer, Cleft palate, Hydroureter, Patent ductus arteriosus, Delayed eruptio... |
OMIM:135900 |
Holzgreve Syndrome |
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Renal hypoplasia, Cleft palate, Cleft upper lip, Hypoplastic left heart, Hand polydactyly |
OMIM:236110 |
Split-Hand/Foot Malformation 1 |
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Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... |
OMIM:183600 |
Craniosynostosis 2 |
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Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Hypotelorism, Brachydactyly |
OMIM:604757 |
Toxic Epidermal Necrolysis |
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Dysphagia, Excessive salivation, Dysuria, Intestinal perforation, Malabsorption, Abnormality of t... |
ORPHA:537 |
White Forelock With Malformations |
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Abnormal palate morphology, Hypertelorism, Deep philtrum, Finger syndactyly, Atrial septal defect... |
ORPHA:2475 |
Kabuki Syndrome 2 |
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Horseshoe kidney, Micrognathia, Cleft palate, High palate, Hypodontia, Atrioventricular canal def... |
OMIM:300867 |
Transketolase Deficiency |
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Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus arteriosus, Atria... |
ORPHA:488618 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Hypospadias, Cleft palate, Short ribs, Short uvula, Syndactyly, Short long bone, Flat acetabular ... |
OMIM:614091 |
Emanuel Syndrome |
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Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Cleft palate, High... |
OMIM:609029 |
Renal Agenesis, Bilateral |
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Abnormal intestine morphology, Cleft palate, Sirenomelia, Hypertelorism, Non-midline cleft lip, T... |
ORPHA:1848 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
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Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... |
OMIM:129540 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Talipes equinovarus, Long fingers, Patent ductus arteriosus, Slender finge... |
OMIM:613355 |
Zechi-Ceide Syndrome |
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Cleft palate, Short philtrum, Oligodontia, Mandibular prognathia, Abnormal heart morphology, Shor... |
ORPHA:217017 |
Polysyndactyly With Cardiac Malformation |
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Ventricular septal defect, Hypertelorism, Renal cyst, Duplication of phalanx of hallux, Atrial se... |
OMIM:263630 |
Lessel-Kreienkamp Syndrome |
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Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Gastroe... |
OMIM:619149 |
Prune Belly Syndrome |
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Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Talipes eq... |
ORPHA:2970 |
Nevus Comedonicus Syndrome |
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Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Microcephaly-Capillary Malformation Syndrome |
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Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Hypertelorism, Clinodacty... |
OMIM:614261 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Micrognathia, High palate, Short philtrum, Long philtrum, Mandibular prognathia, Long fingers, Hy... |
OMIM:619512 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Talipes equinovarus, Aor... |
OMIM:609192 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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High palate, Hypotelorism, Long philtrum |
OMIM:618500 |
Weaver Syndrome |
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Micrognathia, Talipes equinovarus, Long philtrum, Large hands, Hypertelorism, Abnormality of the ... |
ORPHA:3447 |
Bone Dysplasia, Lethal Holmgren Type |
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Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... |
ORPHA:1842 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Abnormality of the ureter, High palate, Arachnodactyly, Genu valgum, Sandal gap, Atrial septal de... |
ORPHA:1035 |
Fetal Trimethadione Syndrome |
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Hypospadias, Ventricular septal defect, Micrognathia, High palate, Transposition of the great art... |
ORPHA:1913 |
Lethal Faciocardiomelic Dysplasia |
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Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... |
ORPHA:1972 |
Tarp Syndrome |
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Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Finger syndactyly, Hand polydactyly, Ab... |
ORPHA:2886 |
15Q11Q13 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Mental Retardation, Autosomal Recessive 5 |
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Smooth philtrum, Short philtrum, Hypertelorism, Hypotelorism, Thick upper lip vermilion |
OMIM:611091 |
Primary Pulmonary Hypoplasia |
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Dextrocardia, Micrognathia, Cleft palate, Abnormal tracheal morphology, Pneumothorax, Recurrent r... |
ORPHA:2257 |
Aminopterin Syndrome Sine Aminopterin |
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Micrognathia, Cleft palate, High palate, Oligodontia, Hypertelorism, Joint contracture of the han... |
OMIM:600325 |
Bardet-Biedl Syndrome 4 |
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Polydactyly, Renal cyst, Syndactyly, Abnormality of the dentition, Brachydactyly |
OMIM:615982 |
Von Willebrand Disease |
|
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Oral cleft |
OMIM:611638 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Aortic dissection, Micrognathia, Smooth philtrum, Short philtrum, Talipes equinovarus, Abnormal h... |
OMIM:618343 |
Mckusick-Kaufman Syndrome |
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Cleft palate, Patent ductus arteriosus, Finger syndactyly, Urogenital sinus anomaly, Ventricular ... |
ORPHA:2473 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Hypospadias, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Abnor... |
OMIM:612626 |
Holt-Oram Syndrome |
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Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... |
OMIM:142900 |
Greig Cephalopolysyndactyly Syndrome |
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Broad hallux phalanx, Toe syndactyly, Broad thumb, Hypertelorism, Finger syndactyly, Hydrocephalu... |
ORPHA:380 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Spindle-shaped finger, Hypertelorism, Delayed epiphyseal ossification, Genu valgum, Cutaneous syn... |
ORPHA:166024 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Camptodacty... |
OMIM:614262 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
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Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Micrognathia, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Hypertelorism, Missing ri... |
OMIM:617866 |
Ulnar/Fibular Ray Defect And Brachydactyly |
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Toe syndactyly, Malar flattening, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyl... |
OMIM:608571 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Ventricular septal defect, Micrognathia, Truncus arteriosus, Abnormal aortic... |
ORPHA:2516 |
Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Micrognathia, Long philtrum, Hypertelorism, Patent ductus arteriosus, Radial devi... |
OMIM:609625 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Patellar aplasia, Cleft palate, Cleft upper lip, Abnorma... |
ORPHA:96167 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Abnormality of the metaphysis, P... |
ORPHA:2655 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Recurrent respiratory infection... |
ORPHA:1507 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Talipes equinov... |
OMIM:616145 |
Steinfeld Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal heart morphology, Holoprosencephaly, Median... |
OMIM:184705 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Tracheoesophageal fistula, Laryngotracheal stenosis |
ORPHA:142 |
Fg Syndrome Type 1 |
|
Hypospadias, Pyloric stenosis, Broad toe, Malar flattening, Finger syndactyly, Hydrocephalus, Mic... |
ORPHA:93932 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Cleft palate, High palate, Hamartoma of tongue, Short finger, Posta... |
OMIM:258860 |
Amyotrophy, Hereditary Neuralgic |
|
Cleft palate, Hypotelorism, Narrow mouth, Deeply set eye |
OMIM:162100 |
Ritscher-Schinzel Syndrome 3 |
|
Micrognathia, Epiphyseal stippling, Atrioventricular canal defect, Shortening of all distal phala... |
OMIM:619135 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Short 5th metacarpal, Short 3rd metacarpal, Po... |
OMIM:169400 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Cystic renal dysplasia, Thick lower lip vermilion, Ventricular septal defect, Cleft palate, Triph... |
OMIM:220500 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Cardiomegaly, Enamel hypoplasia, Syndactyly, Thin upper lip vermilion |
OMIM:613576 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Short distal phalanx of toe, Bila... |
OMIM:619356 |
Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Anal atresia, Spina bifida,... |
ORPHA:3169 |
Monosomy 5P |
|
High palate, Hypertelorism, Small hand, Finger syndactyly, Microretrognathia |
ORPHA:281 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Micrognathia, Smooth philtrum, High palate, Long philtrum, Small hand,... |
OMIM:270450 |
Progeroid Facial Appearance With Hand Anomalies |
|
Cutaneous finger syndactyly, Short philtrum, Long fingers, Thin vermilion border, Arachnodactyly,... |
OMIM:602249 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... |
ORPHA:1505 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Renal hypoplasia, Limb undergrowth, Hypotelorism, Tooth malposition, Micr... |
OMIM:616541 |
20Q13.33 Microdeletion Syndrome |
|
Hypospadias, Abnormal cardiac ventricle morphology, Hallux valgus, Short lower limbs, Smooth phil... |
ORPHA:261311 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Bronchomalacia, Mandibular prognathia, Broad thumb, Hypertelorism, ... |
OMIM:101600 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Open bite, Broad thumb, Hypotelorism, Hypertelo... |
ORPHA:794 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, 2-3 toe syndactyly, Cleft palate, Cleft upper lip, Abnormal heart morphology, Hyper... |
OMIM:239800 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Vascular dilatation, Short humerus, Up... |
OMIM:607323 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Smooth philtrum, Diastema, Wide mouth, Large hands, Hypertelorism, Volvulu... |
OMIM:615009 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... |
ORPHA:363417 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Cleft palate, Hypertelorism, Malar flattening, Fin... |
ORPHA:2145 |
Moebius Syndrome |
|
Micrognathia, High palate, Dysphagia, Talipes equinovarus, Hand clenching, Lower limb undergrowth... |
OMIM:157900 |
Distal Tetrasomy 15Q |
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Horseshoe kidney, Micrognathia, Hydronephrosis, High palate, Abnormal heart morphology, Hypertelo... |
ORPHA:314588 |
Gordon Syndrome |
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Cleft palate, High palate, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi... |
ORPHA:376 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Hydrocephalus, Abnormality of the sphenoid sinus, Abnormality of tibia morphology, Hyp... |
ORPHA:363700 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, Smooth philtrum, Posta... |
ORPHA:404440 |
Halperin-Birk Syndrome |
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Micrognathia, High palate, Talipes equinovarus, Pseudobulbar paralysis, Perimembranous ventricula... |
OMIM:618651 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, 2-3 toe syndactyly, Cleft palate, Finger syndactyly, Ventricular septal defect, Left... |
ORPHA:464738 |
Coffin-Siris Syndrome 5 |
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Thick lower lip vermilion, Wide mouth, Short philtrum, Arachnodactyly, Sandal gap, Atrial septal ... |
OMIM:616938 |
Pentalogy Of Cantrell |
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Abnormality of tibia morphology, Hypospadias, Ventricular septal defect, Cleft palate, Anencephal... |
ORPHA:1335 |
Acrocallosal Syndrome |
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Hypospadias, Cleft palate, Smooth philtrum, Finger syndactyly, Micropenis, Microretrognathia, Tri... |
OMIM:200990 |
Bohring-Opitz Syndrome |
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Cleft palate, Syndactyly, Short toe, Camptodactyly, Broad alveolar ridges, Broad palm, Ventricula... |
OMIM:605039 |
Bardet-Biedl Syndrome 17 |
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Dextrocardia, Polydactyly, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Me... |
OMIM:615994 |
Giacheti Syndrome |
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Hypotelorism |
OMIM:612917 |
Orofaciodigital Syndrome Type 5 |
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Absent cupid's bow, Accessory oral frenulum, Hypodontia, Aganglionic megacolon, Cleft soft palate... |
ORPHA:2919 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Downturned corners of mouth, Hypotelorism, Drooling |
OMIM:618718 |
Megabladder, Congenital |
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Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Noonan Syndrome 11 |
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Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Hypertelorism, Pulmonic stenosis, Atrial se... |
OMIM:618499 |
Tetraamelia Syndrome 2 |
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Ventricular septal defect, Micrognathia, Bilateral cleft lip, Hypoplastic pulmonary veins, Glosso... |
OMIM:618021 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
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Holoprosencephaly |
OMIM:306990 |
Seizures-Scoliosis-Macrocephaly Syndrome |
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Long philtrum, Hypertelorism, Atrial septal defect, Gastroesophageal reflux, Overlapping toe |
ORPHA:466926 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
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Hypospadias, Cleft palate, Smooth philtrum, Multiple small bowel atresias, Malar flattening, Join... |
OMIM:218649 |
Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly, Truncus arteriosus |
OMIM:215850 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Monkey wrench femoral neck, Flat acetabular roof, Ventricular septal defect, 2-3 toe syndactyly, ... |
OMIM:618870 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Micrognathia, High palate, Hypotelorism, Deep philtrum, Thin upper lip vermilion, Dental malocclu... |
ORPHA:329178 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Smooth philtrum, Hypertelorism, Cardiomegaly, Patent ductus arteriosus... |
OMIM:618652 |
Hamamy Syndrome |
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Micrognathia, Smooth philtrum, High palate, Hypodontia, Wide mouth, Tapered finger, Long philtrum... |
OMIM:611174 |
Split-Hand/Foot Malformation 4 |
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Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
Robinow Syndrome, Autosomal Dominant 2 |
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Micrognathia, Dental crowding, Long philtrum, Cleft soft palate, Hypertelorism, Gingival overgrow... |
OMIM:616331 |
Proboscis Lateralis |
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Ventricular septal defect, Abnormality of ethmoid bone, High palate, Aplasia/Hypoplasia of the ma... |
ORPHA:141099 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Cleft palate, Cleft upper lip, Hypotelorism, Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Nephrotic Syndrome, Type 11 |
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Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Focal segmental glomeruloscleros... |
OMIM:616730 |
Silver-Russell Syndrome 3 |
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Hypospadias, Patent ductus arteriosus, Syndactyly, Retrognathia, Finger clinodactyly |
OMIM:616489 |
Seckel Syndrome 7 |
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Hypotelorism, Clinodactyly, Hip dysplasia, Abnormality of the carpal bones, Madelung deformity |
OMIM:614851 |
Melnick-Needles Syndrome |
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Micrognathia, Short clavicles, Hydronephrosis, Bowing of the long bones, Hypertelorism, Tooth mal... |
ORPHA:2484 |
Holoprosencephaly 3 |
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Hydronephrosis, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Hypot... |
OMIM:142945 |
Truncus Arteriosus |
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Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
Dyskeratosis Congenita |
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Carious teeth, Hypodontia, Urethral stenosis, Palmoplantar keratoderma, Malabsorption, Coarse met... |
ORPHA:1775 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Dextrocardia, Smooth philtrum, High palate, Short philtrum, Long philtrum, Atrioventricular canal... |
OMIM:618929 |
Chronic Granulomatous Disease |
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Sinusitis, Pyloric stenosis, Malabsorption, Gingivitis, Tracheoesophageal fistula, Recurrent resp... |
ORPHA:379 |
Robinow Syndrome, Autosomal Recessive 2 |
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Bicuspid aortic valve, Micrognathia, Long philtrum, Hypertelorism, Absent uvula, Gingival overgro... |
OMIM:618529 |
Scimitar Syndrome |
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Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... |
ORPHA:185 |
Noonan Syndrome 2 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Micrognathia, High palate, Palmoplantar c... |
OMIM:605275 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
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High palate, Mitral valve prolapse, Adducted thumb, Talipes equinovarus, Long philtrum, Hypertelo... |
OMIM:615539 |
Ivic Syndrome |
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Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... |
OMIM:147750 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
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Holoprosencephaly |
ORPHA:2523 |
Phaver Syndrome |
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Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Hypoplastic aortic arch, My... |
ORPHA:2876 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Irregular epiphyses, 2-3 toe syndactyly, High palate, Rhizomelia, Metaphyseal irregularity, Hyper... |
OMIM:618162 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Renal hypoplasia, 2-3 toe syndactyly, Hydranencephaly, Microretrognathia, Talipes equinovarus, Re... |
OMIM:236500 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
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Hydronephrosis, Aplasia/Hypoplasia of the radius, Intestinal malrotation, Urogenital sinus anomal... |
ORPHA:2973 |
Atrial Septal Defect 4 |
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