Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
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Congenital diaphragmatic hernia |
OMIM:610187 |
Hernia, Anterior Diaphragmatic |
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Congenital diaphragmatic hernia |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Congenital diaphragmatic hernia |
OMIM:226735 |
Syndactyly Type 2 |
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2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Polydactyly, Preaxial Ii |
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Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Cleft palate, Polydactyly, Abnormal heart morphology, Syndactyly, Upper limb phocomelia, Abnormal... |
ORPHA:294975 |
Synpolydactyly 1 |
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4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
8p23.1 deletion syndrome |
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Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... |
DECIPHER:39 |
Brachydactyly, Type C |
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Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
Polydactyly, Postaxial, Type A1 |
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Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Acropectoral Syndrome |
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Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... |
OMIM:605967 |
Syndactyly-Polydactyly-Earlobe Syndrome |
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1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
Polydactyly, Preaxial Iv |
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3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Lateral clavicle hook, Narrow chest, Polydactyly, Brachydactyly |
OMIM:617405 |
Diaphragmatic Hernia 2 |
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Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Mmep Syndrome |
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Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Split foot, Cryptorchidism, Media... |
ORPHA:3434 |
Microphthalmia, Syndromic 12 |
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Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hy... |
OMIM:615524 |
Polydactyly, Preaxial I |
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Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Congenital unilateral pulmonary hypoplasia |
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Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... |
ORPHA:2258 |
Gombo Syndrome |
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Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
Cutis Laxa-Marfanoid Syndrome |
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Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture |
ORPHA:171719 |
Catel-Manzke Syndrome |
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Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Talipes equinovarus, Umbilica... |
OMIM:616145 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
Triphalangeal Thumb, Nonopposable |
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Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Craniofacial Conodysplasia |
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Hydrocephalus, Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Polydactyly, Preaxial Iii |
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Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Santos Syndrome |
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Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Hereditary Continuous Muscle Fiber Activity |
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Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Biemond Syndrome Type 2 |
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Hypospadias, Microphthalmia, Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism, H... |
ORPHA:141333 |
Genitopalatocardiac Syndrome |
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Hypospadias, Ventricular septal defect, Cleft palate, Gonadal dysgenesis, male, Cleft upper lip, ... |
OMIM:231060 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
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2-3 toe syndactyly, Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aort... |
OMIM:600987 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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2-3 toe syndactyly, High palate, Persistent left superior vena cava, Double outlet right ventricl... |
ORPHA:3304 |
Meckel Syndrome, Type 8 |
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Cleft palate, Microphthalmia, Polydactyly, Talipes equinovarus, Cleft upper lip, Anophthalmia, Po... |
OMIM:613885 |
Preaxial Hallucal Polydactyly |
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Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Hypospadias, Ventricular septal defect, Smooth philtrum, Long fingers, Double outlet right ventri... |
OMIM:618316 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology |
ORPHA:99811 |
Poland Syndrome |
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Unilateral oligodactyly, Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly, Syndactyly, ... |
OMIM:173800 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
Holzgreve Syndrome |
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Cleft palate, Hypoplastic left heart, Cleft upper lip, Hand polydactyly |
OMIM:236110 |
Disorganization, Mouse, Homolog Of |
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Cleft palate, Cleft upper lip, Hip dislocation, Hand polydactyly, Limb duplication |
OMIM:223200 |
X-Linked Intellectual Disability, Siderius Type |
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Cleft upper lip, Large hands, Preaxial hand polydactyly, Cryptorchidism, Decreased testicular siz... |
ORPHA:85287 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Unilateral cleft li... |
ORPHA:1919 |
Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
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Broad palm, Cleft upper lip, Abnormal heart morphology, Gonadal dysgenesis, Oral cleft |
OMIM:233430 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia |
ORPHA:2140 |
Truncus Arteriosus |
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Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
Crossed Polysyndactyly |
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Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p... |
ORPHA:2935 |
Scimitar Syndrome |
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Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... |
ORPHA:185 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
Hydrolethalus Syndrome 2 |
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Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventriculomegaly, Hydroce... |
OMIM:614120 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Ventricular septal defect, High palate, Postaxial polydactyly, Patent ductus arteriosus, Preaxial... |
OMIM:618142 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted inferior vena cava with azygous continuation, Interrupted aortic arch, ... |
OMIM:616749 |
Spinal Muscular Atrophy, Type I |
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Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Slender finger |
OMIM:609813 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:249670 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Heart And Brain Malformation Syndrome |
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Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Thick lower lip vermilio... |
OMIM:616920 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Tibial bowing, Hand oligodactyly, Cleft palate, Talipes equinovarus, Camptodactyl... |
OMIM:206920 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Polydactyly, Median cleft lip, Ventriculomegaly, Micropenis, Tetralogy of Fa... |
OMIM:617926 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the elbow, Finger syndactyly, Abnormal rib morphology, Clinodact... |
ORPHA:3268 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Broad hallux phalanx, Toe syndactyly, High palate, Microphthalmia, Talip... |
ORPHA:250989 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the thum... |
ORPHA:1908 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele |
ORPHA:2141 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Double outlet ri... |
OMIM:220210 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele, Abnormality of the diaphragm |
OMIM:601163 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... |
ORPHA:2847 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Abnormal heart morphology, Microglossia, Hip dislocation, Micropenis, Hydrocephalus... |
OMIM:241800 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, High palate, Adducted thumb, Talipes equinovarus, Long philtrum, Cardi... |
OMIM:617022 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Talipes equinovarus, Pulmonary artery hypoplasia, Ventriculomegaly, Cl... |
OMIM:616777 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Narrow mouth, Clinodactyly |
OMIM:615984 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Anencephaly, Ectopic anus, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Microphthalmia, Abnormal morphology... |
ORPHA:3378 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Ventricular septal defect, Smooth philtrum, Talipes eq... |
ORPHA:477817 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615938 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Polyhydramnios, Narrow chest, Bell... |
OMIM:615633 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Preaxial hand polydactyly, Cleft palate |
OMIM:601420 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... |
OMIM:218530 |
3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... |
ORPHA:435638 |
Becker Nevus Syndrome |
|
Pectus excavatum, Pectus carinatum, Upper limb asymmetry, Spina bifida occulta, Supernumerary rib... |
ORPHA:64755 |
Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Short lingual frenulum, Double outlet r... |
ORPHA:2326 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Edema, Talipes equinovarus |
OMIM:616570 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Oral cleft |
OMIM:611638 |
Hydrolethalus |
|
Arrhinencephaly, Cleft palate, Microphthalmia, Anencephaly, Anophthalmia, Gingival cleft, Bifid u... |
ORPHA:2189 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Median cleft palate, W... |
OMIM:136760 |
Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia, Respiratory infections in early life |
OMIM:248110 |
Recombinant Chromosome 8 Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, Double outlet right ventricle, Gingival ove... |
OMIM:179613 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Atrial s... |
OMIM:603387 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Pierre-Robin sequence, Umbilica... |
OMIM:192430 |
Mosaic Trisomy 1 |
|
Cleft palate, Single transverse palmar crease, Deviation of the 5th toe, Broad toe, Complete dupl... |
ORPHA:1692 |
Apert Syndrome |
|
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Delayed eruption of teeth, Hydroceph... |
OMIM:101200 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Cleft palate, High palate, Postaxial polydactyly, Cleft upper lip, Tongue nodules... |
OMIM:277170 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, 2-3 toe syndactyly, Ventricular septal defe... |
OMIM:264480 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Split foot |
OMIM:601348 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:261102 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cleft palate, Micropenis, Syndactyly, Hydrocephalus, Sex reversal, Ulnar deviation o... |
OMIM:612651 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... |
OMIM:618167 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Phocomelia, Aplasia/Hypoplasia of the thumb, Median cleft lip, Holoprosencephaly,... |
ORPHA:3186 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial polydactyly, Short ribs, Polyhydramnios, Preaxial polydactyly, B... |
OMIM:615503 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aorta, Pate... |
OMIM:600460 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ectopia cordis, Anencephaly, Congenital diaphragmatic hernia, Transposition of the g... |
OMIM:313850 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Abnormality of the pulmonary artery, ... |
ORPHA:1166 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Smooth philtrum, Microphthalmia, Polydactyly, Ventriculomegaly, Syndac... |
OMIM:602501 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Smooth philtrum, Midline notch of upper alveolar ridge, Preaxial polydactyly, Enam... |
OMIM:129540 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Cleft palate, Split hand, Median... |
DECIPHER:46 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Smooth philtrum, Urethral steno... |
ORPHA:1727 |
Anencephaly 2 |
|
Anencephaly, Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Median cleft lip |
OMIM:619452 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cleft palate, Peripheral pulmonary artery stenosis, Oligodontia, Cubitus valg... |
ORPHA:2712 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... |
ORPHA:1120 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Enlargement of th... |
OMIM:609052 |
Orofaciodigital Syndrome Viii |
|
Cleft palate, High palate, Polydactyly, Recurrent aspiration pneumonia, Syndactyly, Median cleft ... |
OMIM:300484 |
Femoral-Facial Syndrome |
|
Talipes equinovarus, Coxa vara, Sprengel anomaly, Hip dysplasia, Abnormality of fibula morphology... |
ORPHA:1988 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, External genital hypoplasia, Hypogonadism, Micropenis, Syndactyly, Brachydactyly |
OMIM:615983 |
Microphthalmia, Syndromic 8 |
|
Cleft palate, Microphthalmia, Cleft upper lip, Widely-spaced maxillary central incisors, Split fo... |
OMIM:601349 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the aorta, Patent ductus arteri... |
ORPHA:228190 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Small scrotum, Non-midline cle... |
ORPHA:1027 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Cleft palate, Abnormality of epiphysis morphology, Glossoptosis, Ventr... |
ORPHA:1388 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Diastema, Short philtrum, Postaxial polydactyly, Atrioven... |
OMIM:619142 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615937 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Inguinal hernia |
OMIM:614294 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, High palate, Long philtrum, Patent ductus arteriosus, ... |
ORPHA:261120 |
Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Cleft palate, Polydactyly, Talipes equinovarus, U-Shaped upper lip vermilion... |
OMIM:603671 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Tetralogy Of Fallot |
|
Thin vermilion border, Clinodactyly of the 5th finger, Tetralogy of Fallot, Cryptorchidism, Brach... |
ORPHA:3303 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Hypospadias, 2-3 toe syndactyly, Ventricular septal defect, Cleft palate... |
ORPHA:163979 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Cleft palate, Anophthalmia, Small scrotum, Arachnodact... |
ORPHA:261344 |
Acrocardiofacial Syndrome |
|
Hypospadias, Hallux valgus, Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Cleft ... |
ORPHA:2008 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Microphthalmia, Anencephaly, Cleft upper lip, Bowing of the long bones, Postaxial f... |
OMIM:611561 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Smooth philtrum, Microphthalmia, Pos... |
ORPHA:404440 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thoracic hypoplasia, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Shor... |
OMIM:617866 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Short thorax, Missing ribs, Rib fusion, Spina bifida occulta |
OMIM:613686 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... |
OMIM:604381 |
Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Cleft palate, Triphalangeal thumb, Mitral valve prolapse, Cleft upper ... |
OMIM:612561 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618498 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Abnormal aortic arch morphology, Genu varum, Downturned corners of mouth, Narrow m... |
ORPHA:1110 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
Charlie M Syndrome |
|
Triphalangeal thumb, Short philtrum, Thin vermilion border, Finger syndactyly, Abnormality of the... |
ORPHA:1406 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Cleft palate, Anophthalmia, Deviation of finger, Non-midline clef... |
ORPHA:1104 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... |
OMIM:217085 |
Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... |
OMIM:612946 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Hypoplastic aortic arch, My... |
ORPHA:2876 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Dandy-Walker malformation, Postaxial hand polydactyly |
ORPHA:1566 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... |
ORPHA:474 |
Acalvaria |
|
Cleft palate, Abnormal lung lobation, Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial h... |
ORPHA:945 |
Rosselli-Gulienetti Syndrome |
|
Cutaneous finger syndactyly, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality ... |
OMIM:225000 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Distal arthrogryposis, Ankle flexion contracture, Hip contracture, Arthrogryposis multiplex conge... |
OMIM:617468 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Cleft palate, Triphalangeal thumb, Wide mouth, Aplasia/Hypoplasia of the lungs, Ectopic anus, Apl... |
ORPHA:2549 |
Au-Kline Syndrome |
|
Cleft palate, High palate, Oligodontia, Postaxial polydactyly, Downturned corners of mouth, Hip d... |
OMIM:616580 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial polydactyly, Long philtrum, Hypoplasia of the radius, Syndac... |
OMIM:617895 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the lungs, Bowing of the long bones, Arachnodactyly, Sandal g... |
ORPHA:2725 |
Triploidy |
|
Hypospadias, Meningocele, Cleft palate, Wide mouth, Macroglossia, Holoprosencephaly, Intestinal m... |
ORPHA:3376 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... |
OMIM:601927 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... |
OMIM:613426 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Talipes equinovarus, Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Hydrocepha... |
ORPHA:250994 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Cleft palate, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long ... |
ORPHA:1106 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Ventricular septal defect, Cleft palate, Microphthalmia, Cleft upper li... |
OMIM:244300 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormal external genitalia, Abnormal morphology of th... |
ORPHA:3469 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Chordee, Col... |
OMIM:309801 |
Meier-Gorlin Syndrome 7 |
|
Hypospadias, Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of th... |
OMIM:617063 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Hypospadias, Ventricular septal defect, Cleft palate, Short philtrum, Sm... |
OMIM:300712 |
Pentalogy Of Cantrell |
|
Hypospadias, Ventricular septal defect, Cleft palate, Pulmonary hypoplasia, Anencephaly, Aplasia/... |
ORPHA:1335 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft palate, Cleft upper lip, Limb undergrowth, Joint contracture of the hand, Overlapping finge... |
OMIM:601016 |
Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Polydactyly, Bifid ribs, Palmar pits, Abnormal sternum morp... |
OMIM:109400 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Diastema, Cleft upper lip, Cleft lower lip, Fusion of gums, Median cleft lip |
ORPHA:401942 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cleft palate, Microphthalmia, Anophthalmia, Congenital hip dislocation... |
OMIM:164180 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Short philtrum, Hand clenching, Long fingers, Bulle... |
ORPHA:1617 |
Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... |
OMIM:147750 |
Intellectual Disability, Wolff Type |
|
Thick lower lip vermilion, Hypospadias, Abnormal intestine morphology, Large hands, Non-midline c... |
ORPHA:3080 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Temtamy Syndrome |
|
Thick lower lip vermilion, Abnormal palate morphology, Genu varum, Microphthalmia, Aortic aneurys... |
ORPHA:1777 |
Meckel Syndrome, Type 6 |
|
Cleft palate, Anencephaly, Talipes equinovarus, Cleft upper lip, Abnormal internal genitalia, Hyd... |
OMIM:612284 |
Cerebrooculonasal Syndrome |
|
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Long philtrum, Anoph... |
ORPHA:66625 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Dandy-Walker malformation, Cleft palate, Microphthalmia, Postaxial polydactyly, Rhizomelia, Paten... |
OMIM:616300 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... |
OMIM:617478 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Narrow chest, Mesomelia, Postaxial hand pol... |
OMIM:611263 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, 3-4 toe syndactyly, Short middle phalanx of the 5t... |
OMIM:614326 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Umbilical hernia |
ORPHA:380 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cleft palate, Abnormal aortic morphology, Abnormal morphology of femal... |
ORPHA:1926 |
Mend Syndrome |
|
Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Overlappin... |
OMIM:300960 |
Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Abnormal morphology of female internal genitalia, Situs ... |
ORPHA:991 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Schisis Association |
|
Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Omphalocele |
ORPHA:63862 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Long philtrum, Pulmonic stenosis, Tetralogy of Fallot,... |
ORPHA:251076 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Hydrocephalus, Camptodactyly of fi... |
ORPHA:90652 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Tapered finger, Atrioventricular canal defect, Long philtrum, Postaxial polydactyly,... |
OMIM:613792 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Narrow mouth, Abnormal cardiac septum morphology, Postaxial hand polyd... |
ORPHA:83473 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Syndactyly, Polydactyly |
OMIM:605231 |
Filippi Syndrome |
|
Ventricular septal defect, Hypodontia, Microdontia, Short philtrum, Thin vermilion border, 2-4 to... |
OMIM:272440 |
Hartsfield Syndrome |
|
Cleft palate, Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split ha... |
ORPHA:2117 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Ventricular septal defect, Microphthalmia, Holoprosencephaly, Anophthalmia, Esophage... |
ORPHA:77298 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Postaxial polydactyly, Ventriculomegaly, Vascular dilatation, Hydrocep... |
OMIM:219730 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Broad hallux phalanx, Hypospadias, Umbilical hernia, Broad thumb, 3-4 finger ... |
OMIM:175700 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Short toe, Umbilical h... |
OMIM:615297 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Cleft palate, Microphthalmia, Pulmonary hypoplasia, Hamar... |
OMIM:617925 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Broad hallux, Ventriculomegaly, Postaxial polydactyly |
OMIM:617127 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis, Cryptorchidism |
ORPHA:1074 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Timothy Syndrome |
|
Ventricular septal defect, Microdontia, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndac... |
OMIM:601005 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft palate, Microphthalmia, Talipes equinovarus, Cleft upper lip, Holoprosencephaly, Cryptorchi... |
OMIM:612530 |
Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Microphthalmia, ... |
OMIM:611134 |
Fryns Syndrome |
|
Hypospadias, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... |
ORPHA:2059 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Single vent... |
OMIM:601186 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Sandal gap, Ventriculomeg... |
ORPHA:2515 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Microphthalmia, Short philtrum, Postaxial polydactyly, Tented upper li... |
OMIM:614424 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Talipes equinovarus, Double outlet right ventricle, Patent ductus arterios... |
OMIM:618845 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Abnormal reproductive system morphology, Extern... |
ORPHA:65759 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft lip and palate, Ventricular septal defect, Foot oligodactyly, Cleft upper lip, Ho... |
OMIM:601357 |
Craniorachischisis |
|
Omphalocele, Sirenomelia, Anencephaly, Myelomeningocele, Congenital diaphragmatic hernia, Cervica... |
ORPHA:63260 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... |
OMIM:265380 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Arachnodactyly, Transposition of the great arter... |
ORPHA:261243 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Tric... |
ORPHA:391641 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones, Missing ribs,... |
ORPHA:1801 |
Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Bronchiectasis, Persistent left superior vena cava, Situs inversus tota... |
ORPHA:244 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... |
ORPHA:391646 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Posterior rib fusion, Short thorax, Missing ribs, Abnormal rib morphology, Spina bifida occulta |
ORPHA:1797 |
Ritscher-Schinzel Syndrome 2 |
|
Dandy-Walker malformation, Ventricular septal defect, Short philtrum, Patent ductus arteriosus, P... |
OMIM:300963 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Mohr Syndrome |
|
Cleft palate, Metaphyseal irregularity, Accessory oral frenulum, Syndactyly, Hydrocephalus, Agene... |
OMIM:252100 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cleft palate, Gonadal dysgenesis, male, Downturned corners of mouth, Non-midline cle... |
ORPHA:2075 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Smooth philtrum, Postaxial polydactyly, Long philtrum, Broad distal phalanx of finge... |
OMIM:615761 |
Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Syndactyly, Thoracic kyphosis, Rib fusion, Clinodactyl... |
OMIM:148050 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly |
ORPHA:2091 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, ... |
OMIM:263210 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Umbilical hernia, Omphalocele |
ORPHA:2143 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Short ribs, Polyhydramnios, Preaxial polyd... |
OMIM:616546 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187600 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Acrofacial Dysostosis, Palagonia Type |
|
Cutaneous finger syndactyly, Oligodontia, Cleft upper lip, Spina bifida occulta at S1, Unilateral... |
OMIM:601829 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Microphthalmia, Esophageal varix, Abnormality of the upper limb, Finger... |
ORPHA:974 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lob... |
ORPHA:3097 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:138790 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Cleft palate, Anencephaly, Postaxial polydactyly, Micropenis |
OMIM:614175 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Microphthalmia, Wide mouth, Long philtrum, Cleft upper lip, Duplication of... |
OMIM:243310 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Cleft palate, High palate, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly,... |
OMIM:614091 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short 2nd toe, Glandular hypospadias, Short thumb, Postaxial hand polydactyly, Brachydactyly |
OMIM:176305 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Bilateral cleft lip and palate, Broad palm, Cleft upper lip, Abnormality of the tongue, Intestina... |
OMIM:601165 |
Pallister-Hall Syndrome |
|
Cleft palate, Microglossia, Distal shortening of limbs, Patent ductus arteriosus, Micropenis, Syn... |
OMIM:146510 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft palate, Patellar aplasia, Cleft upper lip, Abnormality of the an... |
ORPHA:96167 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydactyly, Short fing... |
OMIM:258860 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Short philtrum, Cleft upper lip, Thi... |
OMIM:608572 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Keutel Syndrome |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Epiphyseal stippling, Recurrent ... |
OMIM:245150 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, External genital hypoplasia, Hypogonadism, Syndactyly, Abnormality of the dentition,... |
OMIM:615982 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... |
OMIM:613091 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... |
OMIM:612961 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Genu valgum, Anal atresi... |
ORPHA:1381 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Vascular dilatation, Short humerus, Up... |
OMIM:607323 |
Gordon Syndrome |
|
Cleft palate, High palate, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodacty... |
ORPHA:376 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Rib fusion |
OMIM:277300 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... |
OMIM:615542 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Abnormal rib cage morphology |
OMIM:608406 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... |
ORPHA:1937 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate, Abnormal cardiac septum morphology, Anencephaly |
ORPHA:1681 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... |
OMIM:269250 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Edema, Short ribs, Stillbirth, Polyhyd... |
OMIM:200610 |
Tonne-Kalscheuer Syndrome |
|
Abnormal heart morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:300978 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth, High axial triradius |
OMIM:270460 |
Tarp Syndrome |
|
Cleft palate, High palate, Talipes equinovarus, Postaxial polydactyly, Tongue nodules, Hypoplasia... |
OMIM:311900 |
Pierpont Syndrome |
|
Widely spaced teeth, Smooth philtrum, Microphthalmia, Long upper lip, Short finger, Thin vermilio... |
ORPHA:487825 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Microphthalmia, Short philtrum, Abnormality of epiphysis morphology, B... |
ORPHA:93267 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Smooth philtrum, Polydactyly, Short philtrum, Long philtrum, Coarctation of aorta, ... |
OMIM:301022 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Spina bi... |
ORPHA:2437 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hydranencephaly, Short distal phalan... |
OMIM:601355 |
Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Umbilical hernia, Camptodactyly of fi... |
ORPHA:1488 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:154400 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postax... |
ORPHA:139471 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Finger syndactyly, Atrial septal defect, Tracheoeso... |
ORPHA:261272 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentit... |
ORPHA:3104 |
Blepharocheilodontic Syndrome 1 |
|
Hypodontia, Neural tube defect, Cleft upper lip, Conical tooth, Anal atresia, Cutaneous syndactyl... |
OMIM:119580 |
Charge Syndrome |
|
Cleft palate, Bifid scrotum, Abnormal morphology of female internal genitalia, Patent ductus arte... |
ORPHA:138 |
Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Patent... |
OMIM:214800 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Cleft palate, Abnormality of femur morphology, Aplasia/Hypoplasia of the lungs... |
ORPHA:3429 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Talipes equinovarus, Aor... |
OMIM:610168 |
Cardioacrofacial Dysplasia 2 |
|
Hypodontia, Left superior vena cava draining to coronary sinus, Short philtrum, Atrioventricular ... |
OMIM:619143 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Dandy-Walker malformation, Hypodontia, Talipes equinovarus, Capitate-hamate fusion, ... |
OMIM:225500 |
Orofaciodigital Syndrome V |
|
Cleft palate, Aganglionic megacolon, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:174300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... |
ORPHA:2538 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Rib segmentation abnormalities, Short thorax, Finger syndactyly, Abnormal rib morpho... |
ORPHA:2311 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Cleft palate, Umbilical hernia, Large hands, Abnormality of the philtr... |
ORPHA:1770 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft palate, Patent ductus arteriosus, Cleft lip, Micropenis, Syndactyly, Camptodactyly, Short p... |
OMIM:616894 |
Split-Hand/Foot Malformation 1 |
|
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... |
OMIM:183600 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:36 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft palate, Proximal radial head dislocation, Hand oligodactyly, High palate, Cleft upper lip, ... |
OMIM:602418 |
Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Talipes equinovarus, Slender ... |
OMIM:147800 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sa... |
OMIM:617102 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Polyhydramnios, Sprengel anomaly, Narrow chest, Rib fusion |
ORPHA:1394 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Submucous cleft hard palate, Double ... |
ORPHA:3426 |
Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Aarskog-Scott Syndrome |
|
Broad palm, Cleft palate, Umbilical hernia, Long philtrum, Cleft upper lip, Small hand, Delayed e... |
ORPHA:915 |
6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Patent ductus arteriosus, Finger syndactyly, Hydrocephalus, Clinodactyly |
ORPHA:251046 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, High palate, Wide mouth, Postaxial polydactyly, Thin vermilion border, Narrow mouth,... |
ORPHA:544254 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Hypodontia, Megarectum, Rocker bottom foot, Talipes equin... |
OMIM:301056 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Urethral atresia, Proximal placement of thumb, Absent radius, Anal... |
OMIM:314390 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, 2-3 toe syndactyly, Talipes equinovarus, Oligodontia, Patent ductus arteriosus, Dela... |
OMIM:300166 |
Acrocallosal Syndrome |
|
Hypospadias, Cleft palate, Smooth philtrum, Finger syndactyly, Micropenis, Triangular mouth, Umbi... |
OMIM:200990 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Ambiguous genitalia, female, Patent ductus arteriosus, Foot polydactyly, Ambiguous ... |
OMIM:249000 |
Cerebrooculonasal Syndrome |
|
High palate, Cleft palate, U-Shaped upper lip vermilion, Anophthalmia, Solitary median maxillary ... |
OMIM:605627 |
Meckel Syndrome, Type 2 |
|
Meningocele, Microphthalmia, Anencephaly, Polydactyly, Bowing of the long bones, Postaxial hand p... |
OMIM:603194 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Arrhinencephaly, Aganglionic megacolon, Hand oligodactyly, Phocomelia, Abnormal lun... |
OMIM:156810 |
Neu-Laxova Syndrome 1 |
|
Cleft palate, Joint contracture of the hand, Patent ductus arteriosus, Finger syndactyly, Small p... |
OMIM:256520 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Imperforate hymen... |
OMIM:100300 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cutaneous finger syndactyly, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality ... |
OMIM:225060 |
Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Cleft palate, Talipes equinovarus, Proximal placement of thumb, Patent ductus arteri... |
OMIM:601808 |
Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Cleft palate, Aganglionic megacolon, Short philtrum, Tapered finger, Cleft upper lip, Abnormal he... |
OMIM:239300 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of ha... |
OMIM:235750 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Thin upper lip vermilion,... |
OMIM:606242 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:120433 |
Achondrogenesis, Type Ib |
|
Edema, Short ribs, Stillbirth, Polyhydramnios, Narrow chest, Micromelia, Umbilical hernia, Hydrop... |
OMIM:600972 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Pyloric stenosis, Bifid scrotum, Talipes equinovarus, Patent ductus arteriosus, Dela... |
OMIM:619148 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Camptodactyly of finger, Abnormal lung lobation |
ORPHA:2631 |
3C Syndrome |
|
Hypospadias, Cleft palate, Finger syndactyly, Hydrocephalus, Hand polydactyly, Recurrent respirat... |
ORPHA:7 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, High palate, Short 2nd toe, Rocker bottom f... |
OMIM:612582 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia, Cryptorchidism |
ORPHA:1918 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Maternal Phenylketonuria |
|
Ventricular septal defect, High palate, Long philtrum, Abnormal heart morphology, Bifid distal ph... |
ORPHA:2209 |
Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
Char Syndrome |
|
Toe syndactyly, Symphalangism of the 5th finger, Ventricular septal defect, Short philtrum, Paten... |
ORPHA:46627 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Mitral valve prolapse, Azoospermia, Cubitus valgus, Hydrocephalus, Hypergona... |
ORPHA:2183 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Carious teeth, Abnormal palate morphology, Thick lower lip vermilion... |
ORPHA:2701 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Smooth philtrum, Microphthalmia, Cardiomegaly, Patent ductus arteriosu... |
OMIM:618652 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus, C... |
ORPHA:2516 |
Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
Meckel Syndrome, Type 11 |
|
Oligohydramnios, Polydactyly |
OMIM:615397 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Pulmonary hypoplasia, Skeletal muscle atrophy, Arthrogryposis mult... |
OMIM:253310 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung ... |
ORPHA:2063 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Distal Monosomy 7Q36 |
|
Cleft palate, Wide mouth, Holoprosencephaly, Symphalangism affecting the phalanges of the hand, B... |
ORPHA:1636 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Triphalangeal thumb, Phocomelia, Atriovent... |
ORPHA:392 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
Faciothoracogenital Syndrome |
|
Smooth philtrum, Microphthalmia, Long philtrum, Prominent scrotal raphe, Thin upper lip vermilion... |
OMIM:227320 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Patent ductus arteriosus, Vascular dilatatio... |
OMIM:220220 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Congenital diaphragmatic hernia, Pulmonary hypoplasia |
ORPHA:250999 |
Pierpont Syndrome |
|
Widely spaced teeth, Broad palm, Smooth philtrum, Microphthalmia, Long upper lip, Short finger, T... |
OMIM:602342 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Spondylocostal Dysostosis 5 |
|
Supernumerary ribs, Posterior rib fusion, Missing ribs, Pectus carinatum |
OMIM:122600 |
Craniofacial Dyssynostosis |
|
Abnormal oral cavity morphology, Short philtrum, Patent ductus arteriosus, Hydrocephalus, Open mo... |
ORPHA:1516 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ventriculomegaly, Downturned corners of mout... |
OMIM:618974 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Muscle fiber atrophy,... |
OMIM:616866 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Polydactyly |
OMIM:615987 |
Holoprosencephaly |
|
Hydrocephalus, Hand polydactyly, Intestinal atresia, Tooth agenesis, Abnormal aortic morphology, ... |
ORPHA:2162 |
Temple Syndrome |
|
Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Short foot, Hydrocephalus, Cr... |
OMIM:616222 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, ... |
OMIM:612938 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... |
OMIM:610140 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Broad hallux phalanx, Abnormal aortic morphology, High palate, Hypos... |
ORPHA:251071 |
Grange Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm |
ORPHA:79094 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Meckel Syndrome |
|
Dandy-Walker malformation, Cleft palate, True hermaphroditism, Anencephaly, Lobar holoprosencepha... |
ORPHA:564 |
Orofaciodigital Syndrome Type 6 |
|
Cleft palate, High palate, Hamartoma of tongue, Abnormal heart morphology, Tongue nodules, Midlin... |
ORPHA:2754 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Pectus carinatum, Abnormalit... |
ORPHA:93351 |
Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Patent ductus arteriosus, Deviation of finger, Shallow... |
OMIM:201000 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Incre... |
ORPHA:171430 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia, Flexion contracture |
OMIM:616733 |
Metatropic Dysplasia |
|
Long thorax, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Halberd-shaped ... |
ORPHA:2635 |
Arthrogryposis, Distal, Type 1C |
|
Shoulder flexion contracture, Cleft palate, Adducted thumb, Rocker bottom foot, Talipes equinovar... |
OMIM:619110 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft palate, Cleft upper lip, Abnormal heart morphology, Short 5th finger, N... |
OMIM:239800 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft palate, Cleft upper lip, Clinodactyly of the 5th fi... |
OMIM:244600 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short ribs, Narrow chest, Short long bone, Brachydactyly |
OMIM:613819 |
Progeroid Facial Appearance With Hand Anomalies |
|
Cutaneous finger syndactyly, Short philtrum, Long fingers, Thin vermilion border, Arachnodactyly,... |
OMIM:602249 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Hypospadias, Branchial cyst, Tapered finger, Finger syndactyly, Thin upper lip vermilion, Camptod... |
ORPHA:435938 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Dandy-Walker malformation, Cleft palate, Smooth philtrum, Tapered finger, Postaxial polydactyly, ... |
OMIM:300968 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Aplasia of the left hemidiaphragm... |
OMIM:608978 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Cleft palate, High palate, Recurrent aspiration pneumonia, Accessory oral frenulu... |
OMIM:258865 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Pulmonary hypoplasia, Abnormal descen... |
ORPHA:99050 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Optic disc hypoplasia, Bilat... |
OMIM:300514 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Delayed e... |
OMIM:113000 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormality of ... |
ORPHA:83468 |
Hypertelorism And Tetralogy Of Fallot |
|
Hypospadias, Talipes equinovarus, Long philtrum, Patent ductus arteriosus, Tetralogy of Fallot, T... |
OMIM:239711 |
Thomas Syndrome |
|
Cleft palate, Hypoplastic left heart, Cleft upper lip |
ORPHA:3316 |
Lymphangiectasia, Intestinal |
|
Edema, Stillbirth, Pedal edema, Prominent floating ribs |
OMIM:152800 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Mckusick-Kaufman Syndrome |
|
Cleft palate, Patent ductus arteriosus, Finger syndactyly, Urogenital sinus anomaly, Hydrometroco... |
ORPHA:2473 |
Juberg-Hayward Syndrome |
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Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormality of ... |
OMIM:216100 |
16P13.11 Microdeletion Syndrome |
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Ventricular septal defect, Cleft palate, Smooth philtrum, Wide mouth, Talipes equinovarus, Cleft ... |
ORPHA:261236 |
Congenital Disorder Of Glycosylation, Type Iil |
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Ventricular septal defect, Inflammation of the large intestine, Esophageal varix, Postaxial polyd... |
OMIM:614576 |
Inverted Duplicated Chromosome 15 Syndrome |
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Ventricular septal defect, 2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, ... |
ORPHA:3306 |
Holoprosencephaly 13, X-Linked |
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Ventricular septal defect, Cleft palate, Duodenal atresia, Septo-optic dysplasia, Submucous cleft... |
OMIM:301043 |
Tetraamelia Syndrome 2 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Glossoptosis, Ankyloglossia, Micropenis, ... |
OMIM:618021 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
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Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Emanuel Syndrome |
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Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pulmonic stenosis... |
OMIM:609029 |
Laurin-Sandrow Syndrome |
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Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
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Male hypogonadism, Syndactyly, 2-4 toe syndactyly, Azoospermia |
OMIM:241000 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Acropectorovertebral Dysplasia |
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Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... |
ORPHA:957 |
Congenital Heart Defects, Multiple Types, 7 |
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Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
Achondroplasia |
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Genu varum, Bowing of the legs, Rhizomelia, Flared metaphysis, Hydrocephalus, Limited elbow exten... |
OMIM:100800 |
Oculomaxillofacial Dysostosis |
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Cleft palate, Adducted thumb, Median cleft lip, Aplasia/Hypoplasia affecting the eye, Camptodacty... |
ORPHA:1794 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Ventricular septal defect, Cleft palate, Short philtrum, Ectopic anus, Aplasia/Hypoplasia of the ... |
ORPHA:94066 |
Hyperlysinemia |
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High palate, Smooth philtrum, Pulmonary artery hypoplasia, Decreased CSF arginine concentration, ... |
ORPHA:2203 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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High palate, Short 5th metacarpal, Pierre-Robin sequence, Long philtrum, Perimembranous ventricul... |
OMIM:617877 |
Craniofacial Microsomia |
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Ventricular septal defect, Cleft palate, Microphthalmia, Wide mouth, Cleft upper lip, Anophthalmi... |
OMIM:164210 |
Microphthalmia, Isolated, With Cataract 1 |
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Microphthalmia |
OMIM:156850 |
Congenital Laryngomalacia |
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Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Vacterl/Vater Association |
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Hypospadias, Cleft palate, Aplasia/Hypoplasia of the lungs, Bifid scrotum, Abnormal morphology of... |
ORPHA:887 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypertrophic cardiomyopathy, Interrupted aortic arch, Hypospadias, Polydactyly, Coarctation of ao... |
ORPHA:17 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Post... |
ORPHA:75389 |
Tarp Syndrome |
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Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Rocker bottom foot, Postaxial pol... |
ORPHA:2886 |
Suleiman-El-Hattab Syndrome |
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Thick lower lip vermilion, Ventricular septal defect, Smooth philtrum, High palate, Polydactyly, ... |
OMIM:618950 |
Joubert Syndrome 37 |
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High palate, Microphthalmia, Postaxial polydactyly, Micropenis, Cryptorchidism, Decreased testicu... |
OMIM:619185 |
Orofaciodigital Syndrome I |
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Carious teeth, Cleft palate, Syndactyly, Vascular dilatation, Hydrocephalus, Agenesis of permanen... |
OMIM:311200 |
Retinitis Pigmentosa 89 |
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Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Trisomy 4P |
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Carious teeth, Abnormal palate morphology, Hypospadias, Smooth philtrum, Radial club hand, Abnorm... |
ORPHA:1738 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
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Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... |
ORPHA:1113 |
Lethal Recessive Chondrodysplasia |
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Flared elbow metaphyses, Limb undergrowth, Edema, Polyhydramnios, Narrow chest, Short long bone, ... |
ORPHA:1423 |
Coffin-Siris Syndrome 10 |
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Persistence of primary teeth, Ventricular septal defect, Clinodactyly, Wide mouth |
OMIM:618506 |
Primary Pulmonary Hypoplasia |
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Dextrocardia, Cleft palate, Pneumothorax, Recurrent respiratory infections, Patellar hypoplasia, ... |
ORPHA:2257 |
Rhizomelic Syndrome, Urbach Type |
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Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Abnormality of epiphysi... |
ORPHA:3098 |
Cardiospondylocarpofacial Syndrome |
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Tarsal synostosis, Cone-shaped epiphysis, Pseudoepiphyses, Carpal synostosis, Short foot, Rib fus... |
OMIM:157800 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... |
OMIM:608728 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
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Hydrocephalus |
OMIM:600257 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
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Hypospadias, 2-3 toe syndactyly, Ventricular septal defect, Cleft palate, High palate, Metaphysea... |
OMIM:617164 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, Dilated third ventricle, 2-3 toe syndactyly, Cleft palate, Finger syndactyly, Ventri... |
ORPHA:464738 |
Pulmonary Hypoplasia, Primary |
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Pulmonary hypoplasia |
OMIM:265430 |
Chromosome 17Q12 Duplication Syndrome |
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Smooth philtrum, Microphthalmia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Bro... |
OMIM:614526 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Cleft upper lip, Optic n... |
OMIM:607597 |
Renal Hypodysplasia/Aplasia 2 |
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Pulmonary hypoplasia |
OMIM:615721 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
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Bifid ribs, Talipes equinovarus, Polyhydramnios, Narrow chest, Postaxial hand polydactyly, Rib fu... |
OMIM:213980 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Congenital diaphragmatic hernia, Inguinal hernia, Recurrent respiratory infections, Emphysema, Um... |
OMIM:219100 |
Walker-Warburg Syndrome |
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Dandy-Walker malformation, Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Ventriculomeg... |
ORPHA:899 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Cleft upper lip, Holoprosencephaly, Solitary median maxillary central incisor, An... |
OMIM:147250 |
Xp22.13P22.2 Duplication Syndrome |
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