Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Hypertelorism, Complete atrioventricular canal defect, Postaxi... |
OMIM:217085 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Upper limb phocome... |
ORPHA:294975 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl... |
OMIM:217095 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Hypertelorism, Common atrium, Postaxial hand polydactyly, Clubbing, Genu v... |
OMIM:619143 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... |
OMIM:314390 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cyclopia, Complete atri... |
OMIM:264480 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Spina bifida, Micrognathia, Myel... |
ORPHA:2437 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... |
OMIM:619343 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Deeply set eye, Atria... |
ORPHA:261272 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Ventric... |
ORPHA:1908 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... |
OMIM:619142 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Micrognathia, Hypertelorism, High palate, Patent foramen ovale |
OMIM:619699 |
White Forelock With Malformations |
|
Bronchomalacia, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges of the toes, Prominent ... |
OMIM:277740 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Hypotelorism, High palate, ... |
OMIM:612946 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Hypotelorism, Atrial septal defect,... |
ORPHA:3469 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Hypotelorism, Deeply set eye, Clinoda... |
ORPHA:251046 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd... |
OMIM:225500 |
Acalvaria |
|
Spina bifida, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, C... |
ORPHA:945 |
Down Syndrome |
|
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... |
OMIM:190685 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lun... |
ORPHA:93274 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Hydrocepha... |
OMIM:300514 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hypotelorism, Pulmonary sequest... |
OMIM:618330 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect... |
ORPHA:2538 |
Acces Syndrome |
|
Recurrent respiratory infections, Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, H... |
OMIM:619959 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Hypospadias, Hypotelorism, Deeply set eye, Tetralogy of Fallot |
ORPHA:276422 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Occipital ence... |
ORPHA:887 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Hypot... |
OMIM:618974 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Hypertelorism, Micrognathia, Velopharyngeal insufficiency, Abnormal heart morphology... |
OMIM:300978 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hypertelorism, Hamartoma of tongue, Complete atrioventricular... |
OMIM:617925 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Deeply set e... |
OMIM:265380 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Hypertelorism, Long fingers, Cleft palate, Coronary arte... |
OMIM:614294 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Hypertelorism, Anencepha... |
ORPHA:1590 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hypertelorism, Micrognathia, Hydrocephalus, Tracheoeso... |
ORPHA:268249 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hypertelorism, Hydrocephalus, Lobar holoprosencephaly,... |
OMIM:609637 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial... |
ORPHA:476126 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia... |
ORPHA:77298 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Atrial septal defect, Down-sloping shoulders, Tapered finger, Hypertelorism... |
OMIM:611174 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Short palm, Clinodactyly of... |
OMIM:193530 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Axial Mesodermal Dysplasia Spectrum |
|
Hypertelorism, Micrognathia, Missing ribs, Hydrocephalus, Anorectal anomaly, Abnormality of the u... |
ORPHA:1834 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypertelorism, Micro... |
ORPHA:3376 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Hypertelorism, Esophageal atresia, H... |
ORPHA:59315 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Hype... |
ORPHA:1388 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Hypotel... |
ORPHA:1952 |
Monosomy 13Q34 |
|
Hypertelorism, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly, Hematochezia... |
ORPHA:96168 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Arach... |
ORPHA:261344 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... |
ORPHA:1120 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Postaxial hand polydactyly, Patent ductus arterio... |
ORPHA:3378 |
Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra... |
ORPHA:115 |
Short Stature-Micrognathia Syndrome |
|
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, M... |
OMIM:617164 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, ... |
ORPHA:2511 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Lambotte Syndrome |
|
Ventricular septal defect, Hypertelorism, Preaxial foot polydactyly, Retrognathia, Semilobar holo... |
OMIM:245552 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, Aplasia/Hypoplasia of the lung... |
ORPHA:2570 |
Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho... |
ORPHA:95430 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hypertelorism, Pericardial effusion, Micrognathia, Hydrocephalus, Cutaneous synd... |
OMIM:617822 |
Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... |
ORPHA:392 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... |
OMIM:615996 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Hypotelorism |
OMIM:314320 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holo... |
OMIM:202650 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach mo... |
ORPHA:141127 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven... |
OMIM:618142 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Intestinal malrotation, Hypertelorism, Velopharyngea... |
OMIM:614701 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, ... |
ORPHA:84 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Abnormal lung lobation, Hypotelorism, Finger clino... |
ORPHA:99776 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Hypotelorism |
ORPHA:3369 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, D... |
ORPHA:2209 |
Frontoocular Syndrome |
|
Micrognathia, Hypotelorism, Proptosis, High palate, Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart... |
OMIM:269860 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Mi... |
OMIM:146510 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valg... |
ORPHA:3082 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral... |
OMIM:107480 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Abnormal cerebral vascular morphology, Hy... |
ORPHA:2165 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Anterior encephalocele, Foot olig... |
OMIM:601357 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... |
ORPHA:508488 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly |
ORPHA:2935 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Hypertelorism, Micrognathia, Hypotelorism, Deeply set eye, Gloss... |
OMIM:613604 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Hypertelorism, Micrognathia, Cleft palate, Hypotelorism, Pulmonic sten... |
OMIM:619123 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Hypertelorism, 3-4 finger cutaneous syndactyly, Cleft pala... |
OMIM:612530 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premax... |
ORPHA:2166 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Intestinal malrotation, Ectopi... |
ORPHA:401935 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Hyp... |
ORPHA:1225 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rec... |
ORPHA:2745 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormal cardiac septum morphology, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... |
ORPHA:96148 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Hypertelorism, Tracheoesophageal fistula,... |
ORPHA:1780 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Hypotelorism, Ab... |
ORPHA:1515 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
3C Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormal tricuspid valve morphology, Gast... |
ORPHA:7 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H... |
OMIM:612651 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Mic... |
OMIM:614114 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Hypertelorism, Micrognathia, Missing ribs, Hy... |
OMIM:220210 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Symphalangism affecting the phalanges of the hand, Cleft palat... |
ORPHA:1636 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Hypotelorism... |
ORPHA:1387 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, S... |
OMIM:301030 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Hypertelorism, Small hand, Hypotelorism, Deeply set eye, H... |
OMIM:618672 |
Esophageal Atresia |
|
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gastroesophageal reflu... |
ORPHA:1199 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Curved middle phalanx of the 4th toe, Microretrognathia, Arachnodactyly, Hy... |
ORPHA:276413 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, B... |
ORPHA:439822 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Short thumb, Short ... |
OMIM:164280 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... |
OMIM:617926 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Tracheoesophageal fistula, M... |
OMIM:277380 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal ag... |
OMIM:151100 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... |
ORPHA:2980 |
Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, An... |
ORPHA:63862 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Hypertelorism, Tracheoesophageal fistula, Abnorma... |
ORPHA:3068 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu... |
OMIM:192350 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect, Submucous clef... |
OMIM:619227 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Delayed eruption of... |
ORPHA:96264 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... |
ORPHA:65759 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Gastroeso... |
ORPHA:818 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Arachnodactyly, Hypertelorism, Micrognathia, Hypotelorism, Mitral valve pro... |
OMIM:300986 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Braddock Syndrome |
|
Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand polydactyly, Hypotelorism, P... |
ORPHA:52047 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Hypotelorism |
OMIM:619091 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Malar flat... |
OMIM:615984 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Hypertelorism, Micrognathia, Patent ductus arteriosus,... |
ORPHA:261120 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Single transverse palmar crease, Hypertelorism, Micrognathia, Hypotelorism, High palate, Talipes ... |
OMIM:613544 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Hyperteloris... |
ORPHA:3380 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Holoprosencephaly, Tapered finger |
OMIM:300706 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi... |
ORPHA:2879 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Hypertelorism, Missing ribs, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, ... |
OMIM:619859 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Hypertelorism, Micrognathia, ... |
OMIM:612561 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Hyper... |
OMIM:615656 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger... |
ORPHA:2710 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
Pentasomy X |
|
Camptodactyly of finger, Hypertelorism, Micrognathia, Patent ductus arteriosus, Small hand, Short... |
ORPHA:11 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus... |
OMIM:300968 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic ar... |
OMIM:614846 |
Hartsfield Syndrome |
|
Encephalocele, Hypertelorism, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplas... |
ORPHA:2117 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... |
OMIM:614815 |
2Q23.1 Microduplication Syndrome |
|
Broad hallux, Sandal gap, Abnormality of the hand, Hypotelorism, Gastroesophageal reflux, Clinoda... |
ORPHA:313947 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the lung, Abnormal intestine morph... |
ORPHA:2591 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis, Common atr... |
OMIM:612731 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... |
ORPHA:1839 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypertelorism, Patent ductus arterios... |
OMIM:619189 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand monodactyly, H... |
OMIM:214800 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Micrognathia, Pat... |
ORPHA:251071 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Hypertelorism, Hydroc... |
OMIM:614083 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Cleft palate, Hypotelorism, Deeply set eye, Holoprosencephaly, Pulmo... |
ORPHA:250999 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Hypotelorism, Lobulated tongue, Syndactyly, Hypertelorism,... |
OMIM:249000 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Hypertelorism, Alobar holoprosencephaly, High palate, Micropenis |
OMIM:615433 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... |
OMIM:113000 |
Schilbach-Rott Syndrome |
|
Hypospadias, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger ... |
OMIM:164220 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Hypertelorism, Micrognathia, 2-3 toe cutaneous syndactyly, Patent duct... |
OMIM:618454 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Hypertelorism, Osteolysis involving bones of the upper limbs, Osteolysis involving bo... |
ORPHA:88630 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic stenosis, Tetr... |
ORPHA:251076 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Atrial septal defect, Multicystic kidney dysplasia, Micrognathia, Abnormal ... |
ORPHA:1052 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, H... |
OMIM:147791 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Hypertelorism, Adducted thumb, Broad thumb, Gastroesop... |
OMIM:611816 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Hypotelorism, High palate |
ORPHA:1702 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydro... |
ORPHA:3412 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Hypertelorism,... |
OMIM:612940 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Micrognathia, Renal hypoplasia, Hypotelorism |
OMIM:616817 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Cyclopia, Situs inversus totalis, Holoprosencephaly, Mandibular aplasia, Mic... |
ORPHA:990 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Single transverse... |
OMIM:618950 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... |
ORPHA:3186 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Gastroesophageal reflux, Holoprosencephaly, Vesic... |
ORPHA:138 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Preaxial hand polydactyly, Cleft pa... |
ORPHA:2549 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Recurrent respiratory infections, Overlapping toe, Ventricular septal defect, Parachute... |
OMIM:618316 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Hypertelorism, Hydrocephalus, Polydactyly |
OMIM:602501 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Hypertelorism, Preaxial hand... |
OMIM:175700 |
Holoprosencephaly 11 |
|
Proptosis, Holoprosencephaly, Cleft palate, Hypotelorism |
OMIM:614226 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th finger, Patent f... |
ORPHA:177907 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft palate, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Malar... |
OMIM:268850 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Hypotelorism, Hypoplastic vertebral bodies, Holoprosencephaly, Clinodactyly of the 5t... |
ORPHA:2163 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cleft palate, Gastroeso... |
ORPHA:261236 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertelorism, High palate, Single transverse palmar crease, Hypotelorism |
OMIM:618916 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Patent ... |
OMIM:610443 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hypertelorism, Slender finger, Hypotelorism |
OMIM:613192 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Bilateral renal h... |
ORPHA:49 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... |
ORPHA:1329 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Hypertelorism, Micrognathia, Patent ductus art... |
ORPHA:3304 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Single transverse palmar crease, Renal hypoplasia, Hypotelorism, High palate, Hypertro... |
OMIM:619053 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Holoprosencephaly |
|
Hypoplasia of penis, Hypotelorism, Deeply set eye, Gastroesophageal reflux, Holoprosencephaly, En... |
ORPHA:2162 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Hypotelorism, Deeply set eye, Aminoaciduria, Clinodactyly, Pulmonary hemorrhage |
OMIM:603585 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... |
OMIM:602531 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst... |
OMIM:615993 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
Galloway-Mowat Syndrome |
|
Proteinuria, Camptodactyly of finger, Hypertelorism, Aqueductal stenosis, Hiatus hernia, Microgna... |
ORPHA:2065 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Dental malocclusion, Hypotelorism, Limited elbow extension, Incisor m... |
OMIM:619719 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger... |
ORPHA:435638 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Hypertelorism, Narrow palm, Hip dislocation, Narrow ... |
OMIM:619435 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Micrognathia, Hip di... |
OMIM:613884 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, H... |
OMIM:311900 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Partial anomalous pu... |
OMIM:301044 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Deeply set eye, Micrognathia, Hypotelorism |
OMIM:614104 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Cleft palate, Hypotelorism, Holoprosencephaly, Cyclopia, Tetralogy of Fallot... |
ORPHA:280200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Hypotelorism, High palate, Retrognathia,... |
OMIM:620156 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
Trisomy 18P |
|
Micrognathia, High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Hypotelorism |
ORPHA:1715 |
Lowry-Maclean Syndrome |
|
Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hy... |
ORPHA:2409 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Meckel diverticulum, Ventricular septal de... |
ORPHA:1708 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Atrioventricular... |
ORPHA:672 |
Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Hypertelorism, Long fingers, Hypotelorism, Large hands, Proptosi... |
OMIM:613174 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cleft palate, Abnormal aortic morphology, Multiple renal... |
ORPHA:1166 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Unilateral renal agenesis, High... |
OMIM:618494 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypertelorism, Micrognathia, Patent ductus arter... |
OMIM:179613 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Hypertelorism, Tapered finger, Micrognathia, High palate,... |
OMIM:613792 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Hypertelorism, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspirat... |
OMIM:300484 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Hypertelorism, Preaxial hand polydactyly, Duplication of p... |
OMIM:263630 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Down-sloping shoulders, Deviation of the 5th toe, Micrognathia, Slender toe, Hypotelorism, Hypopl... |
ORPHA:391408 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Hypertelorism, 4-5 toe syndactyly, Hypotelorism |
OMIM:611091 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidney, Hypertelorism, Micrognathia, Hy... |
OMIM:212780 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Preaxial hand polydactyly... |
ORPHA:380 |
Lymphedema, Primary, With Myelodysplasia |
|
Hypotelorism, Long fingers, Tapered finger |
OMIM:614038 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac... |
ORPHA:2008 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypertelorism, Ureteral atresia, Hypotelorism, Renal tubular ac... |
ORPHA:1493 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Ventr... |
ORPHA:2970 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Gen... |
OMIM:617798 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:2872 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno... |
ORPHA:537 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morph... |
ORPHA:1027 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, High palate, Hypotelorism |
OMIM:615042 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... |
OMIM:607323 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... |
OMIM:274000 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... |
ORPHA:2257 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encepha... |
ORPHA:90652 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Hypertelorism, Micrognathia, Patent ductus arteriosus, Bilateral cleft li... |
ORPHA:2001 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Prominent superficial veins, Hypertelorism, Micrognathi... |
OMIM:601812 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Hypospadias, Hypertelorism, Micrognathia, Patent ductus ar... |
OMIM:616975 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hypotelorism, Hip dysplasia, Clinodactyly of the ... |
OMIM:614851 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Hypertelorism, Pulmonary lymphangiectasia, Camptodactyl... |
OMIM:616006 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Dental malocclusion, Hypotelorism, Abn... |
ORPHA:2115 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft palate, Hypotelorism, Finger joint hypermobility, Micropenis |
OMIM:244200 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Von Willebrand Disease |
|
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Atrial septal defect, Congenital hip dislocation, Dilation of Virchow-Robi... |
OMIM:619512 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Trigonocephaly 1 |
|
High, narrow palate, Long penis, Meckel diverticulum, Hypotelorism |
OMIM:190440 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Hypertelorism, Patent ductus arteriosus, Cleft palate, Coarctati... |
OMIM:615502 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Micromelia, Abnormality of t... |
ORPHA:1842 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Rocker bottom foot, Single transverse palmar crease, Hypotelorism, Bifid u... |
OMIM:618622 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Micrognathia, Bilateral renal hypoplasia, Hypotelorism, High palate, G... |
OMIM:619488 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... |
OMIM:619657 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus adductus, Short thumb, Hig... |
ORPHA:436003 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Micrognathia, Patent ductus arteri... |
OMIM:301043 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Hypertelorism, Micrognathia, Narrow palm, Retrognathia, Abnormal heart ... |
ORPHA:352490 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Camptodactyly of finger, Proximal placement of thumb, Hypotelo... |
ORPHA:261211 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Cleft palate, Right aortic arch... |
OMIM:231060 |
Treacher-Collins Syndrome |
|
Encephalocele, Hypoplasia of penis, Abnormal dental enamel morphology, Hypertelorism, Micrognathi... |
ORPHA:861 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Hypertelorism, C... |
OMIM:277170 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri... |
OMIM:615994 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Broad thumb |
OMIM:617364 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro... |
ORPHA:1692 |
Glutathionuria |
|
Hypotelorism, Urinary incontinence, Glutathionuria |
OMIM:231950 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol... |
OMIM:619721 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... |
ORPHA:2655 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Atelectasis, Abnormal finger morphology, Cutaneous finge... |
ORPHA:896 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Cat Eye Syndrome |
|
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Hypertelorism, Patent ductus arteriosu... |
OMIM:115470 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Cleft palate, Polydactyly, Talipes ... |
OMIM:613885 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Hypertelorism, Tracheomalacia, Micrognathia... |
OMIM:217980 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hypertelorism,... |
OMIM:617866 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Urinary incontinence, Tapered finger, Pericardial effusion, Micrognathia, Car... |
OMIM:620070 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Deepl... |
OMIM:619149 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Hypertelorism, Abnormal hand bone ossification, Short toe, M... |
OMIM:300244 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Hypertelorism, Micro... |
OMIM:608572 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Hypospadias, Unilateral renal agenesis, Carious teeth, Muscular ventricular sept... |
ORPHA:363444 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Hypertelorism, Small hand, High palate |
ORPHA:281 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Abnormality of t... |
ORPHA:2973 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Atrial septal defect, Broad ... |
OMIM:614526 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
Distal Triplication 15Q |
|
Arachnodactyly, Hypertelorism, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, H... |
ORPHA:314588 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposition of the great art... |
ORPHA:1913 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Natal tooth, Micrognathia, Hip dislocation, Dental malocclusion, Horseshoe ... |
OMIM:300867 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormality of the hand, Hypertelorism, Frontal encephalocele, Abnormality ... |
ORPHA:521308 |
Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Conical incisor, Atrial septal defect, Emphysema, Atrioventricular canal ... |
ORPHA:289 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Cutaneous finger syndactyly, Protein-losing ent... |
OMIM:235510 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Micrognathia, Secundum atrial septal defect, Long hallux, Deeply set eye, High pal... |
OMIM:620194 |
Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Hypertelorism, Micro... |
ORPHA:3447 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Hypotelorism, Tubulo... |
OMIM:218330 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypertelorism, Hypoplasia of the maxilla, Atrial septal defect, Malar flatt... |
ORPHA:261295 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Hypertelorism, Abnormality of the urethra, Micrognathia, Split han... |
ORPHA:2145 |
Non-Syndromic Metopic Craniosynostosis |
|
Hypotelorism |
ORPHA:3366 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Hypo... |
OMIM:612474 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypertelorism, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, ... |
ORPHA:166024 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Esophageal stenosis, Malabsorption, Hypoplasia of the maxilla, ... |
ORPHA:1775 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact... |
ORPHA:2886 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Renal Agenesis, Bilateral |
|
Hypertelorism, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morpholog... |
ORPHA:1848 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis, ... |
OMIM:616541 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Postaxial polydactyly, Unilateral renal agenesis, Patent ductus arteri... |
OMIM:614576 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypertelorism, Micrognathia, Split hand, Dysphagia, Micropenis, Abnorm... |
OMIM:157900 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Hypertelorism, Micrognath... |
OMIM:600325 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Hypertelorism, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Rocker bottom foot, Single transvers... |
OMIM:619951 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abnormality of the hand, Dextr... |
ORPHA:536545 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Hypertelorism, Dysphagia, Atrial septal defect, Patent for... |
ORPHA:89844 |
Halperin-Birk Syndrome |
|
Micrognathia, Hip dislocation, Pseudobulbar paralysis, Perimembranous ventricular septal defect, ... |
OMIM:618651 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Cleft palate, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Hypertelorism, Hip dislocation, Hypotelorism, Talipes equinovarus, Ad... |
OMIM:219150 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... |
OMIM:613684 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Atri... |
ORPHA:1035 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Hypertelorism, Micrognathia, Abnormal tibia morphology, Hyd... |
ORPHA:363700 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
High palate, Hypotelorism |
OMIM:616281 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Hypotelorism, ... |
OMIM:135900 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Hypertelorism, Micrognathia, Ulnar bowing, Shortening of all distal phala... |
OMIM:619135 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... |
ORPHA:391641 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Hypertelorism, Abno... |
ORPHA:261311 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Hypospadias, Single transverse palmar crease, Situs inversus totalis, Smal... |
ORPHA:1449 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Charlie M Syndrome |
|
Finger syndactyly, Hypertelorism, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacar... |
ORPHA:1406 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Scapular winging, Ventricular septal defect, Single transverse palmar crease, ... |
OMIM:618870 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hypertelorism, ... |
ORPHA:794 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Sandal gap, Ventricular septal defect, Postaxial polydactyly, H... |
OMIM:174300 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Hypertelorism,... |
OMIM:619314 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Short thumb, Patent ductus arteriosus, Submuco... |
ORPHA:2712 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus... |
OMIM:619895 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... |
OMIM:270100 |
Noonan Syndrome 2 |
|
Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect... |
OMIM:605275 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Hypertelorism, Upper limb undergrowth, Polydactyly, Short 3rd metacarp... |
OMIM:169400 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Repeated pneumothora... |
OMIM:617602 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Hypertelorism, Short ... |
OMIM:617516 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Craniofaci... |
ORPHA:2484 |
Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Alobar holoprosencephaly, Hypertelorism, Cleft palate, Lobar holoprosenc... |
OMIM:615465 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, Deeply set eye, High palate, Gastroesophageal reflux, A... |
OMIM:609029 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Deeply set eye, High palat... |
OMIM:619148 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Inter... |
OMIM:613870 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Short ribs, Hypoplas... |
OMIM:173800 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hypertelorism, Hydrocephalus, Me... |
OMIM:614424 |
Megalencephaly |
|
Atrial septal defect, Deeply set eye, Long penis, Genu valgum |
ORPHA:2477 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... |
ORPHA:974 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Hypertelorism, Pulmonary hypoplasia, Clinodac... |
OMIM:601163 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Hypertelorism, Micrognathia, Long fingers, Patent ductus art... |
OMIM:615668 |
White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Hypertelorism, Clinodactyly of the 5th finger, Spina bif... |
ORPHA:2475 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Apla... |
ORPHA:564 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Vesicoureteral reflux, Pulmonary a... |
OMIM:616894 |
Amyotrophy, Hereditary Neuralgic |
|
Deeply set eye, Cleft palate, Hypotelorism |
OMIM:162100 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Hypertelorism, Celiac disease, Short thumb, Slender finger, Velopharyngeal insuffici... |
OMIM:619325 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Short foot, Gastroesophageal reflux, Atrial sep... |
ORPHA:228399 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hypertelorism, Hamartoma of tongue, Micrognathia, Cleft pa... |
OMIM:258860 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Renal corti... |
OMIM:219730 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... |
OMIM:121050 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Hypotelorism, Clinodactyly of the 5th finger, Micropenis, Chron... |
OMIM:606593 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... |
OMIM:601346 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... |
ORPHA:508498 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypertelorism, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft... |
OMIM:614261 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Tapered finger, Hypertelorism, Patent ductus arte... |
OMIM:617159 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth, Hypotelorism, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa v... |
OMIM:601370 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hypotelorism |
OMIM:218670 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular ring, Atrial septal defect |
OMIM:603387 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Hyperteloris... |
OMIM:620113 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Malabsorption, Pyloric stenosis, Tracheoesophageal f... |
ORPHA:379 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductu... |
ORPHA:90308 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Hypertelorism, Hypoplastic pulmonary veins, Microgn... |
OMIM:618021 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Unilateral renal agenesis, Hypertel... |
ORPHA:141099 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertelorism, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic car... |
OMIM:618499 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Submucous cleft hard palate, Enuresis nocturna, Hypotelorism, Brachydactyly |
OMIM:619680 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hypotelorism |
OMIM:618718 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, Micrognathia, Dental malocclusion, Hypotelorism, High palate |
ORPHA:329178 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly, Hypoplasia of the odontoid process |
OMIM:612913 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Hydrocephalus, Tetralogy of Fallot... |
ORPHA:1926 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Retrognathia, Hypotelorism |
OMIM:619691 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Unilateral renal ... |
ORPHA:468631 |
Trichothiodystrophy |
|
Ventricular septal defect, Hypertelorism, Carious teeth, Recurrent bronchopulmonary infections, H... |
ORPHA:33364 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Broad hallux, Aganglionic megacolon, Hypertelorism, Vesicoureteral reflux, Shorten... |
OMIM:614749 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Postaxial polydactyly |
OMIM:615985 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Sandal gap, Ventricular septal defect, Hallux varus, Tapered finger, Hypospadias, Hyper... |
OMIM:158170 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Hypertelorism, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart mor... |
OMIM:239800 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Hypotelorism, High palate, Holoprosencephaly, H... |
ORPHA:556955 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Abnormal ... |
ORPHA:1335 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High palate, At... |
ORPHA:776 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hypotelorism, Deeply set eye, Genu varum, Long toe, ... |
OMIM:264090 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tapered finger, High, narrow palate, 2-3 toe syndactyly, Abn... |
ORPHA:485405 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... |
OMIM:611134 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Hypospadias, Coxa valga, Hypertelorism, Postaxial ... |
OMIM:301056 |
Holoprosencephaly 3 |
|
Cleft palate, Hypotelorism, Bifid uvula, Proptosis, Holoprosencephaly, Malar flattening, Cyclopia... |
OMIM:142945 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypertelorism, Hypoplas... |
ORPHA:85201 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Overlapping toe, Hypertelorism |
ORPHA:466926 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ... |
OMIM:617061 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, High, narrow palate, Cleft palate, Gastroesophageal reflux, Atrial septal defect, C... |
OMIM:617808 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypertelorism, Patent ductus arteriosus, Abnormality of ... |
OMIM:618652 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... |
ORPHA:1106 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Hypotelorism |
ORPHA:477673 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Hypertelorism, Cle... |
ORPHA:2994 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hypertelorism, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Tubulointerstitial nephriti... |
ORPHA:459061 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Male urethral meatus... |
ORPHA:464738 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Atrial septal def... |
OMIM:619356 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypertelorism, Micrognathia, Dilated cardiomyopathy, Cleft pala... |
OMIM:242840 |
Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... |
ORPHA:474 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cy... |
OMIM:236500 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... |
OMIM:615503 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Ventricular septal defect, Abnormality of the hand, Hypertelor... |
ORPHA:369891 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... |
OMIM:220500 |
Al-Raqad Syndrome |
|
Atrial septal defect, Deeply set eye, Sandal gap, Brachydactyly |
OMIM:616459 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... |
OMIM:601005 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Bohring-Opitz Syndrome |
|
Micrognathia, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal defect, Dislocated ra... |
OMIM:605039 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Micrognathia, 2-3 toe s... |
ORPHA:404440 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, De... |
OMIM:619762 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small then... |
OMIM:618914 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Hypertelorism, Micrognathia, Small hand, Broad palm, Aort... |
OMIM:145420 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Hypertelorism,... |
OMIM:311200 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Hypertelorism, Micropenis, Coarctation of aorta, Deeply set eye, High palate, Atrio... |
OMIM:618929 |
Monosomy 13Q14 |
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Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hy... |
ORPHA:1587 |
Brachydactyly Type B |
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Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Boomerang Dysplasia |
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Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Micrognathia, Shoulder dislocation, Atrial septal defect, Pa... |
OMIM:245600 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Hyd... |
OMIM:300707 |
Codas Syndrome |
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Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Cerebrofacioarticular Syndrome |
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Syndactyly, Anal stenosis, Hypospadias, Hypertelorism, Micrognathia, Hypoplasia of the maxilla, R... |
ORPHA:314679 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Hydrocephalus, Postaxial hand polydactyl... |
OMIM:610829 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
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High palate, Hypotelorism |
OMIM:615760 |
Scalp-Ear-Nipple Syndrome |
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Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac... |
OMIM:181270 |
Chromosome 10Q26 Deletion Syndrome |
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Atrial septal defect, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transv... |
OMIM:609625 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Atrial septal defect, Recurrent respiratory infections, Micromelia, Abnormal cerebral vascular mo... |
ORPHA:2637 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Nephrotic Syndrome, Type 11 |
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Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan... |
OMIM:616730 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Rectal prolapse, Hypotelorism, Nephrocalcinosis, Gastroesophageal reflux, ... |
OMIM:194050 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Hypertelorism, Pa... |
OMIM:612582 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Hypertelorism, Patent ductus arte... |
OMIM:618162 |
Even-Plus Syndrome |
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Epiphyseal dysplasia, Vesicoureteral reflux, Renal hypoplasia, High palate, Atrial septal defect,... |
OMIM:616854 |
Trichothiodystrophy 3, Photosensitive |
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Natal tooth, Carious teeth, Pyloric stenosis, Hypotelorism, Meckel diverticulum |
OMIM:616395 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Long toe, Atrial septal defect, Sandal gap, Malar flattening, Hypertelorism, Long fingers, Patent... |
ORPHA:261279 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Renal hypoplasi... |
ORPHA:75389 |
Noonan Syndrome With Multiple Lentigines |
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Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... |
ORPHA:500 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, 2-3 toe syndactyl... |
ORPHA:477817 |
Summitt Syndrome |
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Finger syndactyly, Camptodactyly of finger, Hypertelorism, Genu valgum, Short palm, Clinodactyly ... |
ORPHA:3210 |
Arterial Tortuosity Syndrome |
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Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Hypertelorism... |
ORPHA:3342 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Ventricular septal defect, Hypospadias, Hypertelorism, Patent ductus arteriosus, Split hand, Club... |
OMIM:600460 |
Rubinstein-Taybi Syndrome 1 |
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Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Ao... |
OMIM:180849 |
Potocki-Lupski Syndrome |
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Mandibular prognathia, Oral-pharyngeal dysphagia, Hypertelorism, Micrognathia, Dental malocclusio... |
OMIM:610883 |
Pericardial And Diaphragmatic Defect |
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Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Nephronophthisis 15 |
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Polydactyly |
OMIM:614845 |
Microphthalmia, Syndromic 9 |
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Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,... |
OMIM:601186 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Stage 3 chronic kidney disease, Single transverse palmar crease, Hypotelorism, Enuresis, Renal Fa... |
OMIM:619743 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Hypospadias, Polydactyly, Hypoplastic ischia, Hypertelorism |
OMIM:616910 |
Alagille Syndrome |
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Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Hypertelorism, Micrognat... |
ORPHA:52 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Syndactyly, Hypospadias, Hypertelorism, Cleft palate, Proptosis, High ... |
OMIM:619736 |
Galloway-Mowat Syndrome 9 |
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Diffuse mesangial sclerosis, Hypertelorism, Hiatus hernia, Stage 5 chronic kidney disease, Hypote... |
OMIM:619603 |
Al-Gazali-Bakalinova Syndrome |
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Epiphyseal dysplasia, Tapered finger, Hypertelorism, Flattened epiphysis, Genu valgum, Polydactyl... |
OMIM:607131 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, En... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Insulin-Like Growth Factor I, Resistance To |
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Sandal gap, Ventricular septal defect, Micrognathia, Small hand, Short foot, Deeply set eye, High... |
OMIM:270450 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
9Q21.13 Microdeletion Syndrome |
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Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morphology, Hip dysplasi... |
ORPHA:531151 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ... |
ORPHA:75508 |
Sclerosteosis |
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Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t... |
ORPHA:3152 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Hypertelorism, Micrognathia, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aor... |
OMIM:614857 |
Craniofrontonasal Dysplasia |
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Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Brachydactyly Type B2 |
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Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Genitopalatocardiac Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Hypertelorism, Micrognathia, Postaxial hand polydactyl... |
ORPHA:2075 |
Autosomal Recessive Robinow Syndrome |
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Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Cli... |
ORPHA:1507 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Finger syndactyly, Proximal placement of thumb, Hypertelorism, Abnormal thumb morphology, Abnorma... |
ORPHA:1825 |
Emanuel Syndrome |
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Congenital hip dislocation, Micrognathia, Deeply set eye, High palate, Gastroesophageal reflux, A... |
ORPHA:96170 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... |
ORPHA:329224 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd... |
ORPHA:91387 |
Isolated Sedoheptulokinase Deficiency |
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Renal insufficiency, Steatorrhea, Hypotelorism, Hip dysplasia, Shallow orbits, Abnormality of glo... |
ORPHA:440713 |
Craniofacioskeletal Syndrome |
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Atrial septal defect, Ventricular septal defect, Hypospadias, Tracheal stenosis, Micrognathia, Pa... |
OMIM:300712 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Dextrocardia, Hypertelorism, Micrognathia, Pyloric stenosis, Cleft ... |
ORPHA:261197 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Syndactyly, Congenital hip dislocation, Hypertelorism, Patent ductus arteriosus, Hydrocephalus, M... |
OMIM:104350 |
Zechi-Ceide Syndrome |
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Mandibular prognathia, Sandal gap, Short metatarsal, Cleft palate, Abnormal heart morphology, Atr... |
ORPHA:217017 |
Hypomelanosis Of Ito |
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Syndactyly, Hypertelorism, Hand polydactyly, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Isolated Osteopoikilosis |
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Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Single transverse palmar crease, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Multiple... |
OMIM:613177 |
Brachytelephalangic Chondrodysplasia Punctata |
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Recurrent respiratory infections, Calcaneal epiphyseal stippling, Ventricular septal defect, Trac... |
ORPHA:79345 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Recurrent respiratory infections, Postaxial polydactyly, Nephrocalcinosis, Short long bone, Brach... |
OMIM:615633 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Hydrocephalus, Preaxia... |
OMIM:616546 |
Pfeiffer Syndrome Type 1 |
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Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Congenital Rubella Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormal metaphysis mo... |
ORPHA:290 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Intestinal m... |
OMIM:244300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
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Mandibular prognathia, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Di... |
OMIM:619720 |
Congenital Myopathy 11 |
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Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Focal Dermal Hypoplasia |
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Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d... |
ORPHA:2092 |
Kleefstra Syndrome |
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Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal r... |
ORPHA:261494 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Abnormal carpal morphology, Madelung deformity, Hypotelorism, Hip dysplasia, Limb undergrowth, Cl... |
ORPHA:319675 |
Temtamy Preaxial Brachydactyly Syndrome |
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Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Talon cusp, Sho... |
OMIM:605282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Atrial septal defect, Microretrognathia, Contracture of the proximal inter... |
OMIM:300998 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubula... |
OMIM:253010 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Microgna... |
ORPHA:96167 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Orofaciodigital Syndrome Type 6 |
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Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Hypertelorism, Micrognathia, Central Y-sh... |
ORPHA:2754 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coxa valga, Micrognathia, Long fingers, Patent d... |
OMIM:608149 |
Larsen Syndrome |
|
Short metatarsal, Shallow orbits, Atrial septal defect, Spina bifida occulta, Hypoplastic cervica... |
OMIM:150250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Patent ductu... |
OMIM:602782 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft... |
OMIM:157170 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal ref... |
OMIM:300373 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, C... |
ORPHA:457193 |
Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, A... |
ORPHA:264450 |
Solitary Median Maxillary Central Incisor |
|
Cyclopia, Holoprosencephaly, Hypotelorism |
OMIM:147250 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Hypotelorism, Deeply set eye, Microphallus, Micropenis |
OMIM:300486 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Zaki Syndrome |
|
Toe syndactyly, Micrognathia, Long fingers, Patent ductus arteriosus, Ectrodactyly, High palate, ... |
OMIM:619648 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Hypertelorism, Clinodactyly of the... |
OMIM:618067 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Atrial septal defect, Micropenis, Bifid uvula... |
OMIM:601808 |
Coffin-Siris Syndrome 5 |
|
Sandal gap, Atrial septal defect, Arachnodactyly, Short distal phalanx of finger |
OMIM:616938 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial septal defect... |
OMIM:241310 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... |
ORPHA:1666 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... |
ORPHA:505237 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip and palate, Hypoplasia of the premaxilla, Alobar holopro... |
OMIM:610828 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, Ureterocele, Vesicoureteral reflu... |
OMIM:129900 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Schizophrenia 1 |
|
Syndactyly, Hypertelorism, Short proximal phalanx of the 4th toe, Ectopic kidney |
OMIM:181510 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Pleural... |
OMIM:615355 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ... |
OMIM:305450 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Hypospadias, Jejunal atresia, Ileal atresia, Hypertelorism, Micrognathia, Chordee, Ho... |
OMIM:618820 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Short palm, Atrial septal defect, Clinodactyly of the 5t... |
ORPHA:251014 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Stormorken Syndrome |
|
Subarachnoid hemorrhage, Hypotelorism, Hematuria, Deeply set eye, Stroke-like episode |
OMIM:185070 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered f... |
ORPHA:435938 |
Robinow Syndrome |
|
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dysp... |
ORPHA:97360 |
Fryns Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, High palate, Gastroesophageal reflux, Vesicoureter... |
ORPHA:2059 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Deeply set eye, Short palm, Atrial septal defect, Clinodactyly of the 5th fi... |
ORPHA:261330 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... |
OMIM:616898 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Supernumerary tooth,... |
OMIM:617088 |
Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Postaxial polydactyly, Hypotelorism |
OMIM:615849 |
Loeys-Dietz Syndrome 5 |
|
High palate, Atrial septal defect, Bilateral coxa valga, Patent foramen ovale, Bifid uvula, Scapu... |
OMIM:615582 |
Hyperlysinemia |
|
Argininuria, Recurrent pneumonia, Cystinuria, Hypotelorism, Pulmonary artery hypoplasia, Hyperlys... |
ORPHA:2203 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Tapered finger, Hypertelorism, Contracture of the distal interphalangeal jo... |
OMIM:605130 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Hypertelorism, Pat... |
OMIM:617190 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Hypertelorism, Clinodactyly, Retrognathia |
OMIM:619092 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... |
OMIM:619758 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Hypertelorism, Macroglossia, Transposition of the great arteries, Talipes equinovarus, Clinodacty... |
OMIM:616789 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Sandal gap, Postaxial polydactyly, Micrognathia, Broad distal phalanx of finger |
OMIM:615761 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Gast... |
ORPHA:453499 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Cleft palate, Abnormal ... |
OMIM:247200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hypertelorism, Recurrent... |
OMIM:616449 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Micrognathia, Recurrent pneumonia, Abnormal heart morphology, High palate, Polydactyly, Aspiratio... |
ORPHA:314655 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Proptosis, High palate, Clinodactyly... |
OMIM:619451 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Respiratory tract infection, Hydrocephalus, Abnormal heart morphology, Polydac... |
ORPHA:93400 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Hypertelorism, Deeply set eye, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Sandal gap, High, narrow palate, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Hypertelorism, Hypoplasia of the maxilla,... |
ORPHA:251061 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Gastroe... |
OMIM:249270 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hypertelorism, Hydrocephalus, Hip... |
OMIM:616362 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Hypertelorism, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ... |
OMIM:610536 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Hypos... |
ORPHA:254346 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Short distal ph... |
OMIM:180860 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Atrial septal defect |
OMIM:620184 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Hypertelorism, Short toe, Patent ductus arteriosus, Widely spaced toes, Ao... |
ORPHA:404443 |
X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, Hypertelorism, ... |
ORPHA:96201 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Congenital Myopathy 12 |
|
Arachnodactyly, Hypertelorism, High, narrow palate, Pulmonary artery stenosis, Jaw contracture, H... |
OMIM:612540 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Retrognathia, Abnormal pulmonary interstitial morphology, Hypot... |
OMIM:617050 |
Ogden Syndrome |
|
Microretrognathia, Ventricular septal defect, Broad hallux, High, narrow palate, Pulmonary artery... |
ORPHA:276432 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop... |
OMIM:616777 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Cleft palate, Apla... |
ORPHA:3429 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Hypospadias, Tapered finger, Hypertelorism, Micrognathia, Small hand, Micropenis... |
OMIM:309590 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly,... |
ORPHA:397590 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Hypertelorism, Micrognathia, Long fingers... |
OMIM:617746 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Gastroesophageal reflux, Left superior vena cava draining to coronary sinus, Campt... |
OMIM:611961 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Aortic root aneurysm, Talipes equinovarus, Camptodacty... |
OMIM:301039 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Deeply set eye, Hand polydactyly, Arteriovenous... |
ORPHA:60040 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Noonan Syndrome 13 |
|
Overlapping toe, Tapered finger, Metatarsus adductus, Hypertelorism, Micrognathia, Mitral valve p... |
OMIM:619087 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger, High palate, ... |
OMIM:617452 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Pa... |
OMIM:616028 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... |
OMIM:612562 |
Kbg Syndrome |
|
Single transverse palmar crease, Hypertelorism, Congenital malformation of the left heart, Cleft ... |
ORPHA:2332 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Rocker bottom foot, Hypertelorism, Micrognathia, Patent ductus arteriosus, High pala... |
ORPHA:363528 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Cleft palate, Atrial septal d... |
ORPHA:79113 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Paten... |
OMIM:619909 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... |
OMIM:603467 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
Distal Deletion 3P |
|
Hypertelorism, Micrognathia, Postaxial hand polydactyly, Cleft palate, High palate, Clinodactyly ... |
ORPHA:1620 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Pro... |
OMIM:610759 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Hypoplasia of the maxilla, Patent ductus arteriosus, Recurrent upper respira... |
ORPHA:293939 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Abnormality of t... |
ORPHA:565612 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Hypertelorism, Hiatus hernia,... |
OMIM:208050 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Deeply set eye, High palate, Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus,... |
OMIM:619769 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Patent duc... |
ORPHA:1790 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Hypotelorism, Neural tub... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Hypotelorism, Neural tub... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Hypotelorism, Neural tub... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Hypotelorism, Neural tub... |
ORPHA:220386 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Hypertelorism, Symphalangism affecting t... |
ORPHA:710 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... |
OMIM:619562 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Hypertelorism, High, narrow palate, Patent ductus arteriosus, Rectal... |
ORPHA:79076 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Femoral b... |
OMIM:617022 |
Sotos Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Hypertelorism, High, narrow palate, Muscular ve... |
OMIM:117550 |
Holoprosencephaly 1 |
|
Median cleft lip and palate, Cyclopia, Alobar holoprosencephaly, Hypotelorism, Micropenis, Ethmoc... |
OMIM:236100 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly... |
OMIM:263520 |
Frank-Ter Haar Syndrome |
|
Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Paten... |
OMIM:249420 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Hypospadias, Hypertelorism, Hand polydactyly, Proptosis, High palate, B... |
OMIM:239710 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Patent ductus arteriosus, Hypotelorism, Aortic rupture, Bladder diverticulum, ... |
OMIM:614557 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... |
OMIM:210710 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Micrognathia, Long fingers, Varicose veins, Deeply set eye, Bilateral talipes ... |
OMIM:618343 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Hypertelorism, Mi... |
OMIM:614080 |
Arachnoid Cyst |
|
Encephalocele, Urinary incontinence, Subarachnoid hemorrhage, Hydrocephalus, Holoprosencephaly, U... |
ORPHA:2356 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... |
OMIM:207410 |
Acrocallosal Syndrome |
|
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Micr... |
OMIM:200990 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... |
OMIM:620072 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, High palate, Gastroesophageal reflux, Atrial septal defect, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, High palate, Gastroesophageal reflux, Atrial septal defect, ... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, Micrognathia,... |
OMIM:309520 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Down-sloping shoulders, Spina bifida, Hypertelorism, Palmar pits, Hydrocep... |
OMIM:109400 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Retrognathia, Double inlet left vent... |
OMIM:619869 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Oral-pharyngeal dysphagia, Cleft palate, Short long bone, Short pa... |
OMIM:619184 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Hypotelorism, Lobar holoprosencephaly, High palate, Hypoplasia of the zygomatic bone, Hitchhiker ... |
OMIM:618500 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cerebral vein ... |
ORPHA:60015 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Hypospadias, Unilateral... |
ORPHA:464306 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Hypertelorism, Secundum atrial septal defect, Patent ductus arteriosus, Cardio... |
OMIM:616866 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... |
ORPHA:2369 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thumb, Atrial septal de... |
OMIM:105650 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Micrognathia, Recurrent pneumonia, Bronchiectasis, High palate,... |
OMIM:618282 |
Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, Hypertelorism, High, narrow palate, Patent ductus arte... |
OMIM:616368 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Thoracic aortic aneurysm, Var... |
OMIM:619656 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Patent ductus arteriosus, Small hand, Clinodactyly of the 5th finger, Retrognathia, P... |
OMIM:616489 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, High palate, L... |
OMIM:618005 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Narrow great... |
ORPHA:79328 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Oral leukopl... |
OMIM:620133 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Hypertelorism, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Atrial... |
OMIM:304120 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Noonan Syndrome 7 |
|
Hypertelorism, Deep palmar crease, Impaired oropharyngeal swallow response, Pulmonic stenosis, Dy... |
OMIM:613706 |
Retinal Dystrophy With Leukodystrophy |
|
Cleft palate, Hypotelorism |
OMIM:618863 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... |
OMIM:228520 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Multicystic kidney... |
ORPHA:2308 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... |
OMIM:192430 |
Al Kaissi Syndrome |
|
Hypertelorism, High, narrow palate, Small hand, Deep palmar crease, Atrial septal defect, Clinoda... |
OMIM:617694 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Hypertelorism, Micrognathia, Postaxial hand polydact... |
OMIM:613610 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:3047 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Hypotelorism, Anteriorly placed anus, Hip dysplasia, Gastroesophag... |
OMIM:619426 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Short ribs, Atri... |
ORPHA:2519 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Hypertel... |
ORPHA:1553 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Hypotelorism, ... |
ORPHA:2177 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Deeply set eye, Smo... |
OMIM:601559 |
Mend Syndrome |
|
Microretrognathia, Crossed fused renal ectopia, Overlapping toe, Broad hallux, Micrognathia, Long... |
OMIM:300960 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micr... |
OMIM:618460 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, High palate, Hypotelorism |
ORPHA:502423 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short pa... |
OMIM:312870 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Abnormal heart valve morphology, Long ... |
ORPHA:230851 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
High palate, Gastroesophageal reflux, Atrial septal defect, Patent foramen ovale, Recurrent aspir... |
ORPHA:280633 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Holoprosencephaly 4 |
|
Hypotelorism, Median cleft lip and palate, Semilobar holoprosencephaly |
OMIM:142946 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Mitral ... |
OMIM:616564 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Overlapping toe, Hypert... |
OMIM:617402 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Hypertelorism, Micrognathia, Sym... |
ORPHA:2990 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale, Hypoplasia of the rad... |
OMIM:609053 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Hypertelorism, Pulmonic stenosis, Atrial septal defect, Cubitus valgus, Hy... |
OMIM:611553 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, H... |
ORPHA:140952 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac wing, Atrial ... |
OMIM:139210 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis |
ORPHA:1338 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equino... |
OMIM:217100 |
Houge-Janssens Syndrome 3 |
|
Single transverse palmar crease, Hypertelorism, Muscular ventricular septal defect, Proptosis, Hi... |
OMIM:618354 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Overlapping toe, Hypertelorism, High palate, Atrial septal defe... |
OMIM:619383 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Meningocele, Abnormality of the ureter, ... |
ORPHA:2311 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia,... |
OMIM:208085 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Hypertelorism, Deeply set eye, High palate, Micropenis, Hydronephrosis |
OMIM:619185 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... |
ORPHA:2911 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis, Hypertelorism |
OMIM:611087 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Hypertelorism, Deeply set eye, Clinodactyly |
OMIM:618087 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Metaphyseal... |
OMIM:617303 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Hy... |
OMIM:123450 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Hypertelori... |
OMIM:305400 |
Blepharocheilodontic Syndrome 1 |
|
Hypertelorism, Cutaneous syndactyly, Neural tube defect, Clinodactyly, Anal atresia |
OMIM:119580 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... |
OMIM:244450 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Aplasia... |
ORPHA:193 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Hypertelorism, Cone-sha... |
OMIM:309350 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Secundum atr... |
ORPHA:96190 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Deeply set eye, ... |
OMIM:136140 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypertelorism, Micrognathia, Patent ductus arteriosus, Mitral valve prolapse... |
ORPHA:251066 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypertelorism, Abnormal thumb morphology... |
ORPHA:500095 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Micrognathia, Long fingers, High p... |
OMIM:617557 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Patent ductus arterios... |
ORPHA:17 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Short metatarsal, Finger clinodactyly, High pa... |
OMIM:617137 |
Fryns Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, A... |
OMIM:229850 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Oligosacchariduria, Macroglossia, High palate, Talipes equinovarus, Cam... |
ORPHA:397709 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Proteus Syndrome |
|
Facial hyperostosis, Mandibular hyperostosis, Venous malformation |
OMIM:176920 |
Snijders Blok-Campeau Syndrome |
|
Hypertelorism, Perimembranous ventricular septal defect, High palate, Taurodontia, Pulmonic steno... |
OMIM:618205 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G... |
ORPHA:1439 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Single transverse palmar crease, Hypertelorism, Clinodactyly of the 5th fin... |
OMIM:620075 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Propto... |
OMIM:301022 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Hypertelorism, Dental malocclusion, Pulmonic ste... |
OMIM:610733 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Short hallux, Prematu... |
OMIM:245150 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Hypertelorism, Micrognathia, Hydrocephalus, Bilateral re... |
OMIM:243605 |
3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, H... |
OMIM:257920 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... |
ORPHA:1512 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder dislocation, High palate, Lon... |
ORPHA:536532 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spin... |
OMIM:617660 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Prominent scalp veins... |
OMIM:151050 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... |
OMIM:619472 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, Proptosis, High pala... |
OMIM:615102 |
Alazami Syndrome |
|
Atrial septal defect, Slender long bone, Malar flattening, Deeply set eye |
ORPHA:319671 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Pelv... |
OMIM:613001 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroe... |
ORPHA:567 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... |
ORPHA:3103 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Unilateral renal agenesis, Hypospadia... |
ORPHA:96121 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Hydrocephalus, Renal tubular dysfunction,... |
OMIM:614886 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... |
ORPHA:3255 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
Marshall-Smith Syndrome |
|
Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, High palate, Asp... |
OMIM:602535 |
White-Sutton Syndrome |
|
Mandibular prognathia, Hypertelorism, Micrognathia, Patent ductus arteriosus, Cleft palate, Hypop... |
OMIM:616364 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Micrognathia, High, narrow palate, Hor... |
ORPHA:96182 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Polydactyly, Nephronophthisis, Vascula... |
OMIM:616307 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Tapered finger, Hypertelorism, Patent ductus arteriosus, Coarctation of aorta, Gast... |
OMIM:619480 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Hypoplastic iliac wing, Micropenis, Pate... |
OMIM:263650 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Hypertelorism, Preaxial polydactyly,... |
OMIM:603671 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Overlapping toe, Ventricular septal defect, Hypospadias, Hypert... |
ORPHA:163956 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Urinary incontinence |
OMIM:615284 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseudarthrosis, ... |
ORPHA:2044 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Micrognathia |
ORPHA:1514 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Esophageal varix, Abnormal pulmonary interstitial morphology, Hypoteloris... |
OMIM:613658 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of ... |
ORPHA:1292 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Ventricular septal d... |
OMIM:613458 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Camptodactyly of ... |
ORPHA:2136 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal... |
OMIM:619471 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Hypertelor... |
ORPHA:783 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, M... |
ORPHA:2750 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spin... |
OMIM:256520 |
Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Hypertelorism, Mitral valve prolapse, Ascending tubular aorta ... |
OMIM:300989 |
Eem Syndrome |
|
Carious teeth, Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Hip dislocation, Elbow flexion contracture, Mitral valv... |
ORPHA:1900 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Ectopic kidney, Hypertelorism... |
ORPHA:1519 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture... |
OMIM:603543 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Hypertelorism, Pneumothorax, Hip dislocation, Micropenis, Ascending tubu... |
OMIM:617403 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic k... |
OMIM:267010 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Carious teeth, Small hand, Hypo... |
ORPHA:1786 |
Tangier Disease |
|
Left ventricular hypertrophy, Accelerated atherosclerosis, Coronary artery stenosis, Carotid arte... |
ORPHA:31150 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Proptosis, Abnormal hip ... |
ORPHA:1323 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Gastroesophageal reflux, Short 4th toe, Atrial septal def... |
OMIM:615873 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Iliac horns, Clinodact... |
ORPHA:2614 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Aplasia/Hypop... |
ORPHA:96149 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... |
ORPHA:158687 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Hypospadias, Cleft soft palate, Absent thumb, H... |
ORPHA:124 |
Distal Deletion 6P |
|
Atrial septal defect, Hypertelorism, Micrognathia, Short foot, Abnormal epiphysis morphology, Tal... |
ORPHA:96125 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Long penis, Furrowed tongue, Nephrocalcinosis, ... |
ORPHA:769 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Hypertelorism, Abnormal metacarpal ... |
ORPHA:3224 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Hypertelorism, Micrognathia, Hydrocephalus, Renal cyst... |
OMIM:257300 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hypertelorism,... |
OMIM:614800 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... |
ORPHA:2260 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... |
OMIM:612289 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Micrognathia, Short toe, Hydrocephalus, Abnormal lung lobation, Cutaneous sy... |
OMIM:617667 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Micrognathia, M... |
OMIM:258315 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, S... |
OMIM:620076 |
Isolated Exencephaly |
|
Proptosis, Hypoplasia of the frontal bone, Holoprosencephaly, Abnormal facial skeleton morphology |
ORPHA:563612 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Hypertelorism, Arteria lusoria, 2-3 toe syndactyly, Anteriorly p... |
OMIM:618653 |
Thrombocytopenia 6 |
|
Deeply set eye, Hypotelorism |
OMIM:616937 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Dilated cardiomyopathy, 3-Methylglutaric aciduria, 3-M... |
OMIM:610198 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos... |
ORPHA:66529 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ... |
ORPHA:2729 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
OMIM:600001 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hypotelorism, High palate, Uric ... |
OMIM:300661 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Micrognathia, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation, Upper limb u... |
ORPHA:369837 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, High palate, Shallow orbits, Atrial septal defect, Phocomelia, Wri... |
OMIM:268300 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Hypertelorism, 2-3 finger syndactyly, Dental malocclusion, Fac... |
OMIM:269500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hydroc... |
OMIM:309801 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Malar flat... |
ORPHA:1787 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Tracheal calcification, Epiphyseal stippling, Abnormal pelvic ... |
OMIM:302960 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Hypertelorism, Micrognathia,... |
OMIM:616038 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Deeply set eye, Gastroesophageal reflux, At... |
OMIM:616268 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Abnormal morphology o... |
ORPHA:1340 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of ... |
OMIM:618109 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Hypertelorism, Pulmonary artery sten... |
OMIM:280000 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Abnormal palmar dermatoglyphics, Cleft palate, Hypoplasia of teeth, Multiple bladder... |
ORPHA:2728 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental enamel morph... |
ORPHA:3253 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal defect, Broa... |
ORPHA:353281 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis |
ORPHA:500533 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Patent ductus arteriosus, Proptosis, Atrial septal defect, Malar flattening |
OMIM:602482 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Tetrasomy 9P |
|
Micrognathia, Deeply set eye, High palate, Clinodactyly of the 5th finger, Micropenis, Patent for... |
ORPHA:3310 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Lipomyelomeningocele,... |
OMIM:616580 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Deeply set eye, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft palate, Tapered fing... |
ORPHA:268261 |
Larsen Syndrome |
|
Finger syndactyly, Hypertelorism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morpho... |
ORPHA:503 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Atrial septal defect, Hypertelorism, Micrognathia, Hydro... |
OMIM:115150 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Hypertelorism, Gastroesophageal reflux, Camptodactyly, Atrial septal d... |
OMIM:617360 |
Neurooculorenal Syndrome |
|
Dextrocardia, Short hallux, Unilateral renal agenesis, Aqueductal stenosis, Intestinal malrotatio... |
OMIM:620305 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ... |
ORPHA:90307 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Micropeni... |
OMIM:134780 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Pylori... |
OMIM:263750 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Single transverse... |
OMIM:612541 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Bronchom... |
OMIM:218040 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Postaxial pol... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Postaxial pol... |
ORPHA:352665 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula |
OMIM:149000 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Hig... |
ORPHA:373 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d... |
ORPHA:857 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal interphalangeal j... |
OMIM:300166 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Proptosis, Talipes equin... |
OMIM:615789 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Cleft palate, Bilateral lung a... |
OMIM:611812 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Kinsship Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Coxa valga, Hypertelorism, Micrognathia, ... |
OMIM:619297 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Lim... |
ORPHA:558 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Choanal Atresia |
|
Tracheomalacia, Recurrent respiratory infections, Chronic sinusitis, Polydactyly |
ORPHA:137914 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Hypertelorism, Multiple small medullary renal ... |
OMIM:118450 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Hypospadias, Hyperteloris... |
OMIM:265000 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Deeply set eye, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Hypertelorism |
OMIM:615879 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Hypertelorism, Micrognathia, High, narrow palate, Patent ... |
OMIM:163950 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Unilateral renal agenesis, Hyperteloris... |
OMIM:213980 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Hypertelorism, Cleft palate, Shortening of all distal phala... |
OMIM:614207 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Blepharocheilodontic Syndrome 2 |
|
Hypertelorism, Cutaneous syndactyly |
OMIM:617681 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Hypospadias, Hypertelorism, Cleft palate |
ORPHA:66629 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Atrial septal defect, Sandal gap, Single transverse palmar crease, Phimosis... |
ORPHA:363611 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Prominent inte... |
OMIM:614609 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Recurrent respiratory infections, Arachnodactyly, Abnormal heart valve m... |
ORPHA:280 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Hypertelorism, Renal cyst, Mitral valve prolapse, ... |
OMIM:617107 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Arterial tortuosity, Hypertelorism, Micrognathia, E... |
OMIM:614437 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Carious teeth, 4-5 finger syndactyly, Hip dislocation, ... |
OMIM:164200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, S... |
ORPHA:457279 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, High palate, Atrial septal defect, Prominent fingertip ... |
OMIM:147920 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:606003 |
Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hypertelorism, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... |
OMIM:617300 |
Syndromic Diarrhea |
|
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Hypertelorism,... |
ORPHA:84064 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease,... |
OMIM:150230 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Hepatoblastoma, Patent ductus ... |
ORPHA:1465 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Spina bifida, Hypertelorism, Micrognathi... |
ORPHA:261318 |
Bdv Syndrome |
|
Atrial septal defect, Micropenis, Micrognathia |
OMIM:619326 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hypertelorism, Hydrocephalus, Hyp... |
ORPHA:457284 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Ureteral duplication, Duplicated colon, Rectoperineal ... |
ORPHA:227 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Marfan Syndrome |
|
Bicuspid aortic valve, Equinus calcaneus, Micrognathia, Deeply set eye, High palate, Emphysema, A... |
OMIM:154700 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Atrial septal defect, Microretrognathia, Toe syndactyly, Ventricular septa... |
ORPHA:459070 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypertelorism, Micrognathia, Cleft palate, High palate, Camptodacty... |
OMIM:614230 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... |
OMIM:261540 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Hypertelorism, Abnormality of the elbow, Hi... |
ORPHA:1005 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Overlapping toe, Tapered finger, Long fi... |
OMIM:618371 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Atrial septal defect, Micropeni... |
OMIM:606170 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte... |
ORPHA:1556 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Patent ductus ... |
ORPHA:505248 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Hypertelorism, Muscular ventr... |
OMIM:157800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Hypertelorism, Dilated cardiomyop... |
OMIM:619573 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Mogs-Cdg |
|
Cardiomegaly, Retrognathia, High palate, Atrial septal defect, Overlapping fingers, Left ventricu... |
ORPHA:79330 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu... |
ORPHA:2753 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Epispadias, High, narrow palate, Abnormal finger morphology, Symphalangism... |
ORPHA:2658 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Short femur, Micrognathia, Cleft hard palate, Patent ductus arteriosus... |
OMIM:300990 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Deeply set eye, High palate, Gastr... |
OMIM:607872 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Anal stenosis, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Dysph... |
OMIM:620029 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Elbow flexion contracture, Hip dislocation, Distal upper ... |
ORPHA:70 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Lymphatic Malformation 6 |
|
Micrognathia, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylothorax, Atrial sept... |
OMIM:616843 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Occipital Horn Syndrome |
|
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho... |
ORPHA:198 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Hypertelorism, Micrognathia, Pulmonary artery stenosis, Radi... |
ORPHA:648 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hypertelorism, Metatarsu... |
OMIM:614866 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence, Abnormal toe mor... |
ORPHA:404448 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypertelorism, Micrognathia, Renal hypoplasia, Short foot, Pro... |
ORPHA:264200 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Abnormality of the upper limb, Intracranial hem... |
ORPHA:624 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Foot polydactyly, Abnorm... |
ORPHA:276280 |
3Mc Syndrome 3 |
|
Hypertelorism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Cleft palate, Radioulnar synos... |
OMIM:248340 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Hypospadias, Phimosis, Si... |
OMIM:309500 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Meningocele, P... |
ORPHA:991 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Atrial septal defect, Double ... |
ORPHA:1667 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Venous malformation |
OMIM:612918 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Patent ductus arteriosus, Coarctatio... |
OMIM:600268 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Syndactyly, Aspiration pneumonia, Hypertelorism |
OMIM:616430 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Arachnodactyly, Intestinal malrotation, Hypertelorism, Hiatus hernia, Pneumoth... |
OMIM:601776 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... |
ORPHA:75565 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Hypertelorism, Metatarsus adductus, Trismus, Dental malocclus... |
OMIM:227330 |
Glomuvenous Malformation |
|
Abnormal tracheal morphology, Gastrointestinal arteriovenous malformation, Abnormality of the upp... |
ORPHA:83454 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Gastroesophageal reflux, Atrial septal defect, Pse... |
OMIM:194190 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyphic ridges a... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyphic ridges a... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyphic ridges a... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyphic ridges a... |
ORPHA:881 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Me... |
ORPHA:209905 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Hypertelorism, Micrognathia, Hig... |
ORPHA:284160 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypertelorism, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal... |
OMIM:618223 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Restrictive Dermopathy |
|
Ureteral duplication, Natal tooth, Aplasia/Hypoplasia of the clavicles, Hypospadias, Dextrocardia... |
ORPHA:1662 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Nephrolithiasis, Desmoid tumors, Mitral valve prolapse, Diaphyseal... |
ORPHA:137605 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormal lung morphology, Abnormality of the gastrointestinal tract |
ORPHA:33276 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:2169 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Hypertelorism, Aminoaciduria, High palate |
OMIM:614520 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Micro... |
OMIM:619268 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Small bowel diverticula, Pyloric stenosis, Dilatation of th... |
ORPHA:90349 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Cleft palate, Micrognathia |
ORPHA:1915 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, High palate, Atrial se... |
OMIM:619522 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic arch, Coar... |
OMIM:617506 |
Eisenmenger Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonar... |
ORPHA:97214 |
Spondyloocular Syndrome |
|
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Long fingers, Mitral v... |
OMIM:605822 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation, Upper limb asymmetry |
ORPHA:137608 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, Ur... |
OMIM:208540 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Natal tooth, Hypospadias, Rocker bottom foot, Hypertelorism, Micrognathia, ... |
OMIM:275210 |
Zttk Syndrome |
|
Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Hypopla... |
OMIM:617140 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... |
OMIM:301068 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneova... |
ORPHA:261537 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Hypertelorism, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth... |
ORPHA:1051 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly |
ORPHA:77301 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Immunodeficiency 49 |
|
Natal tooth, Pulmonary artery stenosis, Micrognathia, Hypertelorism |
OMIM:617237 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig... |
ORPHA:2363 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, ... |
OMIM:129400 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Anteriorly pl... |
ORPHA:26793 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... |
OMIM:130050 |
Prader-Willi Syndrome |
|
Syndactyly, Recurrent respiratory infections, Carious teeth, Acromicria, Small hand, Narrow palm,... |
OMIM:176270 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Broad palm, Clinodactyly of the 5th finger, Bifid uvula |
OMIM:618505 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Tapered finger, Micrognathia, Patent ductus arteriosus, Small hand, Renal hypop... |
OMIM:620005 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Submucous cleft hard palate, Deeply set eye, Aortic root aneurysm, Chordee, Atrial s... |
OMIM:618891 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Venous insufficiency, Hydrocephalus, Bronchog... |
ORPHA:2969 |
Immunodeficiency 47 |
|
Hypotelorism |
OMIM:300972 |
Doors Syndrome |
|
Abnormal finger morphology, Nephrocalcinosis, High palate, Gastroesophageal reflux, Triphalangeal... |
ORPHA:79500 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Malabsorption, Venous i... |
ORPHA:565 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, High palate, Gastroes... |
ORPHA:199 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Mitral valve prolapse, High p... |
OMIM:609942 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, High, narrow palate, Coxa vara, Short ... |
ORPHA:3107 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the maxilla, Submucous clef... |
ORPHA:178303 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Recurrent respiratory... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Recurrent respiratory... |
ORPHA:363958 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... |
OMIM:300967 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Gastrointe... |
ORPHA:2152 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Holoprosencephaly, Median cleft lip and palate |
ORPHA:95494 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Small hand, Xerostomia, Short foot, Hip dysplasia, Gastroesopha... |
ORPHA:398069 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneova... |
ORPHA:261552 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postaxial polydactyly, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus, N... |
OMIM:605627 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ... |
ORPHA:568 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... |
ORPHA:99106 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Cleft palate |
ORPHA:1252 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Hypertelorism, Secundum atrial septal defect, Long fingers, Pate... |
OMIM:613355 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hypertelorism, Micrognathia, Patent ductus arteriosus, Elbow flexion contracture... |
OMIM:300868 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,... |
ORPHA:110 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Atrial septal defect, Ventricular septal defect, Hypertelorism, High, narrow palat... |
ORPHA:466791 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Natal tooth, Broad hallux, Single transverse palmar crease, Hyp... |
OMIM:620186 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Hypertelorism, Epispadias, Cutaneous syndactyly, Rad... |
OMIM:148050 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip dislocation, Bronchiectasis,... |
ORPHA:90348 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv... |
ORPHA:79093 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Hydrocephalus, Communicating hydrocephalus, Right atrial enlargement |
OMIM:615219 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p... |
ORPHA:667 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Macrodactyly, Venous malformation |
OMIM:613089 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ... |
ORPHA:1896 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Vertical orbital dystopia, Hypertelorism, Aplasia/Hypoplasia involving bones of the s... |
ORPHA:1521 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly |
ORPHA:2890 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Fibrous syngnathia, Cleft palate |
ORPHA:1300 |
Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplas... |
ORPHA:2052 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Clapo Syndrome |
|
Venous malformation, Varicose veins, Macrodactyly, Hemihypertrophy of upper limb |
ORPHA:168984 |
Bloom Syndrome |
|
Syndactyly, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesis of maxillary l... |
OMIM:210900 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Hypospadias, Hypert... |
OMIM:235730 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Deeply set eye... |
ORPHA:500150 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Norrie Disease |
|
Venous insufficiency, Deeply set eye, Malar flattening, Hypotelorism |
ORPHA:649 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Finger syndactyly, Short hard palate, Genu varum |
ORPHA:1969 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb |
ORPHA:139471 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Equinus calcaneus, 2-3 toe syndactyly, Gastroesophageal reflux, Bilateral talipes equinovarus, At... |
ORPHA:522077 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Micrognathia... |
OMIM:223370 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Hypertelorism, Deep palmar crease, High palate, Pulmonic stenosis, Atr... |
OMIM:607721 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Hypertelorism |
ORPHA:163681 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Hypertelorism, Micrognathia, Short foot, High palate, ... |
ORPHA:1974 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Abnormal p... |
ORPHA:2907 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Retrognathia |
ORPHA:457351 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Renal cyst, Anteriorly... |
OMIM:601803 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hypertelorism |
OMIM:620244 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Deeply set eye, Gastrointestinal infarctions, Pe... |
ORPHA:286 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Sandal gap, Long fingers, Recurrent pneumonia, ... |
OMIM:620330 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, High palate, Clinodactyly of the 5t... |
ORPHA:96123 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodactyly of the 5th finger, A... |
ORPHA:744 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Gastroesophageal reflux, Vesicoureteral reflux, Atr... |
ORPHA:821 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Hig... |
OMIM:309800 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ... |
ORPHA:69085 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, H... |
OMIM:619991 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor... |
ORPHA:464 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Cutaneous sy... |
OMIM:617666 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Micrognathia, Preaxial hand polydactyly,... |
ORPHA:93271 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Atrial septal defect, Ventricular septal defect, Single transverse palmar cr... |
OMIM:243800 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Vesicovaginal fistula, High palate, Gastroesophageal reflux, Atrial septal... |
OMIM:300896 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Post... |
OMIM:308205 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Elbow dislocation, Venous insufficiency, Gastrointestinal dysmotility, Cystocele, ... |
ORPHA:285 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |