Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Unilateral renal agenes... |
OMIM:618845 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abno... |
ORPHA:2345 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal thorax morphology, Cleft palate, Abnormal heart morphology, ... |
ORPHA:294975 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, He... |
OMIM:617661 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... |
OMIM:214300 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... |
OMIM:236110 |
Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s... |
ORPHA:3320 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In... |
OMIM:305620 |
Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narr... |
ORPHA:66637 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Thin upper lip vermilion, Renal agenesis, Ventric... |
OMIM:615583 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Accelerated skeletal maturatio... |
ORPHA:1354 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft ... |
OMIM:118100 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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High, narrow palate, Anteriorly placed anus, Prominent fingertip pads, Atrial septal defect, Pate... |
OMIM:618494 |
Even-Plus Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Epiphyseal dysplasia, Short neck, Verte... |
OMIM:616854 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Short neck, Pectus excavat... |
ORPHA:2522 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Respiratory insufficiency, Abnormal heart morph... |
OMIM:276950 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Abnormal rib morpholo... |
OMIM:601076 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S... |
OMIM:617877 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Renal agenesis, Broad hall... |
OMIM:212780 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Wormian bones, Ventricular septal defect, Tapered fing... |
OMIM:617159 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Joint st... |
ORPHA:1388 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma... |
ORPHA:3268 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi... |
OMIM:617926 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Ventricular septal defect, Missing ribs, Hemivertebrae, Double outlet ri... |
OMIM:220210 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventric... |
OMIM:619227 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ma... |
OMIM:611555 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Delayed skeletal maturation, Thick lower lip ... |
OMIM:612946 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn... |
ORPHA:363444 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopath... |
OMIM:616549 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret... |
OMIM:607323 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Pectus excavat... |
OMIM:179613 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... |
OMIM:615996 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, 2-3 toe ... |
OMIM:608572 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Absent thumb... |
OMIM:609053 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Unilateral renal... |
OMIM:618142 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, High palate, Cough, Atr... |
ORPHA:96170 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, K... |
ORPHA:1724 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Reduced forced vital capacity, Reduced forced expiratory... |
OMIM:613686 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Neph... |
OMIM:184260 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Joint contracture... |
OMIM:609029 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Right aortic a... |
OMIM:231060 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Abnormal optic d... |
ORPHA:508498 |
Braddock Syndrome |
|
Neonatal respiratory distress, Unilateral renal agenesis, Short neck, Pectus excavatum, Missing r... |
ORPHA:52047 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydact... |
ORPHA:85284 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Chopra-Amiel-Gordon Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Unilateral renal agenesis, Cleft lip, Delayed skeletal... |
OMIM:619504 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Joint stiffness, Cleft palate, Respiratory i... |
ORPHA:1166 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short phil... |
ORPHA:3306 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne... |
OMIM:265000 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... |
OMIM:601389 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Prominent superficial veins, Carotid artery stenos... |
OMIM:618000 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:615731 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Atrial... |
OMIM:274000 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag... |
OMIM:617190 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Dilation of Virchow-Robin space... |
OMIM:619951 |
Chromosome 9P Deletion Syndrome |
|
Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Lo... |
OMIM:158170 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Renal agenesis, Ventricular septal defect, Dextrocardia, Cleft upper lip, Compl... |
OMIM:264480 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Spina bifida occulta... |
ORPHA:1826 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Short neck, Muscular ventricular septal defect, Orof... |
OMIM:618804 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, ... |
OMIM:600987 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Facial p... |
OMIM:614399 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... |
OMIM:618316 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excava... |
OMIM:616817 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... |
ORPHA:370010 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Pos... |
OMIM:616362 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Renal cyst, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M... |
OMIM:614091 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Arachnodactyly, Short neck, Kyphosis, High, narrow palate, Pyloric ste... |
OMIM:248700 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Perching Syndrome |
|
Respiratory distress, High palate, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... |
ORPHA:2970 |
Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, High, narrow palate, Patent ductus arteriosus, Optic a... |
OMIM:616368 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Atrial septal defect, Submucous cleft hard palate, Renal hypoplasia, Aorti... |
OMIM:617660 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... |
OMIM:617137 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c... |
OMIM:308050 |
Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly |
OMIM:246560 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corne... |
ORPHA:1780 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
Femoral-Facial Syndrome |
|
Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Long ... |
ORPHA:1988 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Coxa... |
ORPHA:166272 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart |
ORPHA:2476 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Cleft palate, Upper airway obstruct... |
ORPHA:141152 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Renal agenesis, Hypospadias, Craniosynostosis, Patent d... |
ORPHA:171839 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmoni... |
OMIM:618205 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Sy... |
OMIM:146510 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious... |
OMIM:613680 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Narrow chest, At... |
OMIM:213980 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft upp... |
OMIM:244600 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border... |
ORPHA:530983 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... |
OMIM:611376 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widenin... |
OMIM:614376 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Widely-spaced maxillary central incisors, Micropenis, Hypospadias, Tapered finger,... |
OMIM:301040 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
Melnick-Needles Syndrome |
|
Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-s... |
ORPHA:2484 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Pectus excavatum, Cleft palate, Finger joint hypermob... |
OMIM:244200 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... |
ORPHA:2790 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndac... |
OMIM:236500 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil... |
OMIM:616737 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Sho... |
ORPHA:3015 |
Diaphanospondylodysostosis |
|
Respiratory distress, Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short n... |
OMIM:608022 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly, Triphalangeal thumb... |
OMIM:154400 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Unilateral renal agenesis, Postaxial polydactyly, Pa... |
OMIM:614576 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... |
ORPHA:1937 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... |
ORPHA:1143 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Hypospadias, Wide mouth, Widely spaced teeth, Scoliosis,... |
OMIM:300934 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect,... |
OMIM:608104 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... |
ORPHA:2311 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swel... |
OMIM:612852 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, Ab... |
ORPHA:371428 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the philtr... |
ORPHA:2759 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Joint laxity,... |
OMIM:157800 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Wide... |
OMIM:253000 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Joint stiffness, Non-midline cleft li... |
ORPHA:245 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Proximal place... |
ORPHA:93267 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis,... |
OMIM:614900 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Short neck, Secundum atrial septal defect, Protruding tongu... |
OMIM:608779 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Ectopic kidney, Short neck, High, narrow palate, Renal cyst, Downtur... |
OMIM:122470 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirator... |
ORPHA:1832 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... |
OMIM:312150 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... |
ORPHA:2319 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, In... |
ORPHA:210122 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Camptodactyly, Cervical C2... |
OMIM:617333 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:2578 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Atr... |
OMIM:617140 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... |
ORPHA:166016 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tr... |
ORPHA:7 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Postaxial hand polydactyly, Sh... |
ORPHA:474 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth |
ORPHA:3469 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck |
ORPHA:3456 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Hyperlor... |
OMIM:619698 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Downturned corners of mouth, Lumbar sco... |
OMIM:617796 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Increased overbite, Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal dental en... |
ORPHA:582 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... |
ORPHA:96169 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Abnormal rib morphology, C... |
ORPHA:1703 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Unilatera... |
OMIM:618188 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, ... |
ORPHA:1120 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Pectus excavatum, Short n... |
OMIM:151100 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Accelerated skeletal maturation, Finger joint hypermobility, Atrial septal def... |
OMIM:618870 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Facial palsy, U... |
OMIM:113650 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Distal Duplication 6P |
|
Sacral dimple, Short neck, Renal hypoplasia, Abnormality of the urinary system, Long thorax, Thin... |
ORPHA:1745 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Anteriorly ... |
OMIM:601390 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Ve... |
ORPHA:401935 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip... |
ORPHA:261120 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi... |
ORPHA:1909 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary artery hypoplasia, Cough, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi... |
ORPHA:1145 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Thick vermilion border, Narrow mouth |
OMIM:617564 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... |
OMIM:151210 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck,... |
ORPHA:508488 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular sept... |
ORPHA:477817 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na... |
OMIM:613848 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Short neck, Hemivertebrae, Abnormal optic disc morphology, High palate, S... |
ORPHA:96121 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Missing ribs, Joint st... |
ORPHA:3027 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card... |
OMIM:614922 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Abnormal t... |
ORPHA:1597 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Renal hypoplasi... |
ORPHA:75389 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Hypospadias, Postaxial foot polydact... |
OMIM:301056 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, High palate... |
ORPHA:93315 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Abnormal morphology of the radius, Ventricular... |
ORPHA:3138 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Deep philtrum, Abnormal rib morphology, Joint hyp... |
ORPHA:2475 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia, Narrow mouth |
OMIM:618681 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... |
OMIM:601492 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Kyphosis, Patent ductu... |
ORPHA:3378 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, High palate,... |
OMIM:249420 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Atrial septal defect, Microd... |
OMIM:613458 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... |
ORPHA:93316 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,... |
OMIM:601186 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Renal hypoplasia, Patellar hypoplasia, Gingival overgrowth, ... |
ORPHA:464288 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Short neck, Cardiomegaly, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
Kinsship Syndrome |
|
Osteopenia, Short neck, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Disloca... |
OMIM:619297 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect... |
OMIM:617666 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, V... |
ORPHA:95699 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hyp... |
ORPHA:79345 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral renal agenesis, Accelerate... |
OMIM:101800 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalangeal thumb, Atri... |
OMIM:105650 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti... |
OMIM:610443 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal ... |
ORPHA:83617 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... |
OMIM:260400 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphallus, Clinodactyly of the 5th f... |
OMIM:618454 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Pectus carinatum, Coxa vara, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Optic atrop... |
OMIM:602271 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Flexion contracture, Lacticaciduria, Renal hypoplasia, Wide mouth, Aminoacidu... |
OMIM:604273 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Joint... |
OMIM:606408 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Thin upper lip vermilion, Unilateral renal agenesis |
ORPHA:2512 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Diastema, Patent ductus arteriosus, Short philtrum, High palate, Hydro... |
OMIM:609757 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft palate, Mitral valve p... |
OMIM:612561 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, De... |
OMIM:617303 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormality of the upper urinar... |
ORPHA:2916 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... |
ORPHA:487796 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Vesicoureteral refl... |
ORPHA:444077 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Atrial septal defect,... |
OMIM:201000 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Tortuous cerebral arteries, Osteopenia, Joint laxity, Unilateral renal agenesis, ... |
OMIM:616603 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Hypospadias, Ventricular septal defect, Unilate... |
ORPHA:464311 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnormality of the dentit... |
ORPHA:276422 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short... |
ORPHA:2655 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Short neck, Abnormal thumb morphology, Patent ductus ar... |
ORPHA:1842 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Short neck, Pectus carinatum, Knee flexion contracture, High p... |
OMIM:121050 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Anteriorly ... |
OMIM:615546 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Ankle swelling, Crackles, Dyspnea, Right atrial enlargement, Pulmonary... |
ORPHA:99095 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short nec... |
ORPHA:915 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, High, narrow palate, Flexion contracture, Aortic isthmus h... |
OMIM:180849 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... |
OMIM:615042 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, High palate, Arachnodactyly, Minimal change glomerulonephritis, Clef... |
OMIM:618348 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Pentalogy Of Cantrell |
|
Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Abnormal... |
ORPHA:1335 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Thin lower lip vermilion, Scoli... |
OMIM:619194 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Abnormal heart morp... |
ORPHA:1445 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Cleft palate, Narrow mouth |
ORPHA:93946 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Short neck, Increased intervertebral space, Death in infancy, Lumbar hyperlord... |
OMIM:256050 |
Congenital Myopathy 17 |
|
Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excavatum, Clinodactyly, Dent... |
OMIM:618975 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, High palate, Prenatal death, Camptoda... |
OMIM:618393 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Short neck, Renal hypoplasia/aplasia, High, narrow pal... |
ORPHA:2516 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... |
ORPHA:87 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Dental crowding, Joint stiffness, Pierre-Rob... |
OMIM:619184 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polyd... |
OMIM:617895 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Pneumonia, Absent thumb, Short thumb, Patent ductus arterios... |
OMIM:603467 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cys... |
OMIM:210710 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Short neck, Cardiomegaly, Secundum atri... |
OMIM:300855 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneous finger syndactyly, Hi... |
OMIM:114300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne... |
ORPHA:464306 |
3M Syndrome |
|
Congenital hip dislocation, Abnormal cerebral vascular morphology, Short neck, Increased vertebra... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo... |
ORPHA:93351 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbin... |
ORPHA:3304 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... |
ORPHA:99646 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Neonatal respiratory distress, Ketonuria, Renal hypoplasia, High palate, Hypertrophic cardiomyopathy |
OMIM:619053 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of kidney, Uln... |
ORPHA:921 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... |
OMIM:270100 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, C... |
ORPHA:363705 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... |
OMIM:253010 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Abnormality of the dentition, Clinod... |
OMIM:157900 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... |
OMIM:108300 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydac... |
ORPHA:2519 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal ... |
OMIM:616652 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... |
ORPHA:37553 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Neurogenic bladder, Bicuspid aortic valve, Ventricular septal ... |
OMIM:130720 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, High palate, Transposition of the great arteries, Scolios... |
ORPHA:1913 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Nephrocalcinosis, Short p... |
OMIM:268310 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... |
ORPHA:3258 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Branchial fistula, Sacral dimple, Toe syndactyly, Ventricular septal defect, Cam... |
ORPHA:261337 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... |
OMIM:617925 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Pectus carinatum, D... |
ORPHA:1507 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic... |
OMIM:617641 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, Hypospa... |
OMIM:225500 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Renal hypoplasia, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint cont... |
OMIM:618914 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ... |
ORPHA:2461 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... |
OMIM:615582 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Double... |
ORPHA:3426 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Ventricular septal defect, Short neck, Pectus excavatum, Cl... |
OMIM:609654 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... |
ORPHA:1488 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Neph... |
OMIM:615633 |
Halperin-Birk Syndrome |
|
Flexion contracture, Optic atrophy, Hip dislocation, Perimembranous ventricular septal defect, Hi... |
OMIM:618651 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Respir... |
ORPHA:93941 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Abnormality of the dentition, Pectus ex... |
ORPHA:776 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Delayed skeletal maturation, F... |
OMIM:619383 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Short neck, Short thumb, Limited shoulder movement, Shor... |
OMIM:618821 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda... |
OMIM:173800 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal sacrum morpho... |
ORPHA:1926 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot, Long philtrum, Everted lower lip ver... |
ORPHA:228399 |
12Q14 Microdeletion Syndrome |
|
Intestinal malrotation, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Down... |
ORPHA:94063 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior... |
OMIM:114290 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... |
OMIM:224690 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Hypospadias, Proximal placement ... |
OMIM:217980 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Cranial nerve compression, Abnormality of the twelfth cranial n... |
ORPHA:268882 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Anal stenosis, Irregular dentition, Hypospadias, Narrow mouth, Renal hypo... |
ORPHA:314679 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial han... |
OMIM:216360 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo... |
ORPHA:959 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic... |
ORPHA:254913 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Atrial septal defect, Peripheral pulmonary artery stenosis, Hypopla... |
OMIM:118450 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Renpenning Syndrome 1 |
|
High palate, Short philtrum, Death in childhood, Clinodactyly of the 5th finger, Atrial septal de... |
OMIM:309500 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of the kidney, Kyphosis, Patent ductus arteriosus, Short thorax, Limitation of joint ... |
ORPHA:93274 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal ma... |
ORPHA:244 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten... |
OMIM:301043 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Joint laxity, Sacral dimple, Respiratory distress, Smooth philtrum, Postaxial po... |
OMIM:300968 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnorma... |
ORPHA:3404 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Cleft lip, Hemivertebrae, Double outlet right ven... |
OMIM:618223 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Atrial se... |
OMIM:270400 |
Vacterl/Vater Association |
|
Finger syndactyly, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal agenesis... |
ORPHA:887 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Tented upper lip vermilion, Patent ductus arteriosus after p... |
OMIM:618460 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Downturned corners of mouth, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, At... |
OMIM:220500 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, ... |
ORPHA:97360 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Glandular hypospadias, Thin ribs, High palat... |
OMIM:300219 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Downturned corners of mouth, Short philtrum, Atrial septal defect, Emphysema, Bifi... |
ORPHA:500150 |
Joubert Syndrome 18 |
|
Joint laxity, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyphoscoliosis... |
OMIM:614815 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Short thorax,... |
ORPHA:88630 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... |
ORPHA:261272 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Renal hypoplasia/aplasia, Missing ribs, Short neck, Gingival overgrowth,... |
ORPHA:1834 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, High palate, Widely spaced teeth, Prominent fingertip pads, At... |
OMIM:612474 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... |
ORPHA:261190 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidn... |
OMIM:614846 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... |
OMIM:263520 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Flexi... |
OMIM:613870 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Antecubital pterygium, Bilateral renal... |
OMIM:616258 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... |
OMIM:271640 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Accelerated skeletal maturation, Generalized osteosclerosis, Macroglossia, ... |
ORPHA:1423 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the ulna, Ventricular septal defect, Renal hy... |
ORPHA:52 |
Basal Cell Nevus Syndrome 1 |
|
Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Odontogenic kerato... |
OMIM:109400 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Cleft palate, Abn... |
ORPHA:79284 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... |
OMIM:620294 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Tubulointerstitial fi... |
OMIM:263000 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Camptodactyly of finger, Cleft upper lip, P... |
ORPHA:96167 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent urinary tract infections, Neonatal respiratory distress, Optic nerve hypopl... |
ORPHA:221139 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Narrow chest, Atrial septal defect,... |
ORPHA:289 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Atrial septal defect, Micropenis, Atrioventricular canal defect, B... |
ORPHA:672 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Short neck, Unilateral renal hypoplasia, Vesicoureteral reflux,... |
OMIM:619955 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Cardiomyopathy, Ethylmalonic aciduria, Increased level of me... |
ORPHA:26792 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Atrial... |
OMIM:617602 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Dental crowding, As... |
OMIM:619503 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Den... |
OMIM:608940 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Unilateral renal agenesis, Postaxi... |
ORPHA:457284 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... |
ORPHA:435638 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... |
ORPHA:195 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Recurrent fractures, Abnormal rib morphology, Joi... |
ORPHA:2772 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Camptocormia, Neonatal respiratory distress,... |
OMIM:617595 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Smooth philtrum, Chronic lung disease, Acute respiratory distress syndrome, Cra... |
OMIM:620005 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly |
OMIM:615665 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Long philtrum, Atrial s... |
OMIM:619189 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... |
OMIM:619142 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Cardiomyopathy, Scoliosis, ... |
ORPHA:86812 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus ... |
OMIM:612562 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Spina... |
OMIM:618624 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Kyphoscoliosis, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate... |
OMIM:617808 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental ma... |
OMIM:614669 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Pectus excavatum, Patent ductus... |
OMIM:618330 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Optic nerve hypoplasia, Submucous cleft hard palate, Flexion contractu... |
OMIM:222765 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... |
ORPHA:2209 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote... |
OMIM:235510 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte... |
ORPHA:51608 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Ca... |
ORPHA:904 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d... |
ORPHA:857 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft... |
ORPHA:261197 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology |
ORPHA:281090 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Abnormality of the kidney, Reduced bone mineral density, Scoliosis, Long philtru... |
ORPHA:466926 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Hyperlordosis, High, nar... |
ORPHA:2780 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Conical tooth, Prominent interphalangeal joints, High palate, Short philtrum, Atr... |
OMIM:135900 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Dental crowding, Osteopathia striata, Craniofacial osteosclerosis, High palate, Atrial sep... |
OMIM:300373 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Abn... |
OMIM:239800 |
Tarp Syndrome |
|
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of t... |
OMIM:311900 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, San... |
OMIM:174300 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Renal agenesis, Short lingual frenulum, Anomalous origin of left coronary artery from... |
ORPHA:2326 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal mal... |
OMIM:619657 |
Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... |
ORPHA:175 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Hypospadias, Sandal g... |
OMIM:607143 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Verte... |
OMIM:614701 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... |
OMIM:120330 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion borde... |
OMIM:615502 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureteral... |
ORPHA:567 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Kyphosis, Patent ductus arteriosus, ... |
ORPHA:314588 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... |
OMIM:617063 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Megalencephaly |
|
Short neck, Delayed skeletal maturation, Long penis, Genu valgum, Atrial septal defect |
ORPHA:2477 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Abnormality of the ureter, Genu valgum, Joint hyperflexibility, High ... |
ORPHA:1035 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Thin ribs, Femoral b... |
OMIM:620076 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dyspl... |
OMIM:614527 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft palate, Gingival o... |
OMIM:616331 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Myhre Syndrome |
|
Short neck, Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral f... |
OMIM:139210 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Hemivertebrae, Orofacial cleft, Pectus carinatum, High ... |
ORPHA:958 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal... |
OMIM:611209 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long... |
ORPHA:1318 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Central hypoventilation, Narrow mouth, Pierre-Robin sequence,... |
OMIM:611961 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Endocardial fib... |
ORPHA:99776 |
Hypophosphatasia, Infantile |
|
Apnea, Bowing of the legs, Nephrocalcinosis, Intracranial hemorrhage, Unossified vertebral bodies... |
OMIM:241500 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Nephroca... |
ORPHA:79500 |
Cleidocranial Dysplasia |
|
Sinusitis, High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:1452 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... |
ORPHA:3082 |
Tarp Syndrome |
|
Apnea, Glossoptosis, Atrial septal defect, Finger syndactyly, Scoliosis, Widely patent fontanelle... |
ORPHA:2886 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated sk... |
ORPHA:373 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Sprengel anomaly, Micropenis, Dys... |
OMIM:134780 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... |
OMIM:300580 |
Zechi-Ceide Syndrome |
|
Cleft lip, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, Oligodontia, Thi... |
ORPHA:217017 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Kyphosis, Recurrent pneumonia... |
OMIM:616449 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Sle... |
ORPHA:329224 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... |
OMIM:142900 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Ren... |
ORPHA:2167 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Abnormality of the kidney, Joint stiffness, Hypoplastic il... |
ORPHA:1860 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morpholog... |
ORPHA:1919 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Deep philtrum, Ventricular septal defect, Widely spaced teeth |
OMIM:619717 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition... |
ORPHA:1727 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Tapered finger, Supernumerary to... |
ORPHA:268261 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Hypospadias, Ventricular septal defect, Optic nerve hypopl... |
OMIM:206900 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Generali... |
OMIM:619472 |
Elsahy-Waters Syndrome |
|
Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid uvula, Penoscrotal hyposp... |
OMIM:211380 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atria... |
ORPHA:505248 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral density, Wide mouth... |
OMIM:615279 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Short neck, Cardiomegaly, Accelerated skeletal maturation, Mul... |
OMIM:245600 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Tapered finger, Pectus excavatum, Kyphosis, Complete atrio... |
ORPHA:476126 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion... |
OMIM:618950 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Pyloric stenosis, ... |
OMIM:618419 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Patent du... |
OMIM:617088 |
Cantú Syndrome |
|
Short neck, Cardiomegaly, Accelerated skeletal maturation, Narrow chest, Broad ribs, Finger synda... |
ORPHA:1517 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Short neck, Cleft upp... |
OMIM:244300 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Dental crowding, Calcaneovalgus deformity, Absent phalangeal ... |
ORPHA:230851 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Aort... |
OMIM:301039 |
Myhre Syndrome |
|
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab... |
ORPHA:2588 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Vertebral segmentation defect, Ol... |
ORPHA:453499 |
Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Renal agenesis, Long fingers, Patent ductus arteriosus, Wide mouth... |
OMIM:619648 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Arachnodactyly, Minimal chan... |
OMIM:616730 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Abnormal heart morphology, Congenital contracture, Short philtrum, Joint contracture of... |
ORPHA:352490 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ... |
OMIM:616733 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat... |
OMIM:265380 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Open bite, Abnormal rib morphology, Decreased skull ... |
ORPHA:2097 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Hypoplasia of penis, Atrial septal defect, Death in infancy, Finger syndactyly... |
ORPHA:2008 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Short neck... |
OMIM:610733 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Potocki-Lupski Syndrome |
|
Dental crowding, Abnormal renal morphology, Dental malocclusion, Wide mouth, High palate, Scolios... |
OMIM:610883 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypopla... |
OMIM:615879 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Ebstein anomaly of the tricusp... |
OMIM:608980 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Congenital h... |
ORPHA:1458 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... |
ORPHA:93473 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Pulmonary artery ... |
OMIM:280000 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Charge Syndrome |
|
Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Atrial septal defect, Pulmonary a... |
OMIM:214800 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Cach Syndrome |
|
Arthrogryposis multiplex congenita, Flexion contracture, Optic atrophy, Renal hypoplasia |
ORPHA:135 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Patent ductus arteriosus, Deep p... |
ORPHA:397709 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Joint laxity, Prominent metopic ridge, U-Shaped upper lip vermilion... |
OMIM:619087 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Esophagea... |
OMIM:614083 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Secundum atrial septal def... |
ORPHA:2257 |
Digeorge Syndrome |
|
High, narrow palate, High palate, Short philtrum, Bifid uvula, Patent ductus arteriosus, Chronic ... |
OMIM:188400 |
Esophageal Atresia |
|
Respiratory distress, Clinodactyly, Aspiration, Abnormal vertebral morphology, Barrett esophagus,... |
ORPHA:1199 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Overl... |
OMIM:617452 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... |
OMIM:308205 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Bronchiectasis, Lumbar kyphosis, High palate, Long phil... |
OMIM:620184 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, 2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Optic nerve h... |
ORPHA:468631 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Facial ... |
OMIM:211530 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Thoracolumbar scoliosis, Arachnodactyly, Overlapping toe, Metatarsus adductus, Short... |
ORPHA:436003 |
Renpenning Syndrome |
|
Hypospadias, Macrodontia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, High, nar... |
ORPHA:3242 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Delayed cranial suture closure, Unilateral renal agene... |
ORPHA:90348 |
Aspergillosis |
|
Chronic lung disease, Osteomyelitis, Sinusitis, Abnormality of the kidney, Pneumonia, Dyspnea, As... |
ORPHA:1163 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Male urethral meatus stenosis,... |
ORPHA:464738 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Prominent fingertip pads, Prominent metopic ridge, Bicuspid aortic valve, Arachnoda... |
OMIM:619721 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Thick vermilion border, Pulmonic stenosis |
OMIM:618499 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Abnormal heart valve morphology, Short neck, Joint stiffness, K... |
OMIM:230500 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Paten... |
OMIM:618652 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... |
OMIM:611816 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... |
ORPHA:536471 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Dilated cardiomyopathy, Tooth malpositio... |
OMIM:616541 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Prominent fingertip pads, Thin upper lip vermilion, Sandal gap, High, narro... |
OMIM:612863 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Epispadias, Patent duc... |
OMIM:615948 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Mosaic Trisomy 16 |
|
Syndactyly, Meckel diverticulum, Hypospadias, Ventricular septal defect, Short thumb, Abnormal th... |
ORPHA:1708 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Lambert Syndrome |
|
Wide mouth, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck... |
OMIM:620369 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Sandal gap, Dental crowdin... |
OMIM:617061 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Short hallux, Intestinal malr... |
OMIM:620305 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Pursed lips, Aglossia |
OMIM:241310 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sacral dimple, Sandal gap, Long fingers, Patent ductus arteriosus, Limitation of joint ... |
ORPHA:261279 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Patent urachus, Triphalangeal ... |
OMIM:192350 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... |
OMIM:600057 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Cleft ... |
OMIM:613309 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Long fingers, Patent ductu... |
OMIM:608149 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip |
OMIM:601357 |
Degcags Syndrome |
|
Osteopenia, Bilateral renal hypoplasia, High palate, Atrial septal defect, Patent foramen ovale, ... |
OMIM:619488 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Short neck, 2-3 toe cutaneous syndactyly, High palate, Atrial septal ... |
OMIM:609625 |
Rauch-Steindl Syndrome |
|
Sacral dimple, Miscarriage, Bilateral renal hypoplasia, Thin vermilion border, Short philtrum, Lo... |
OMIM:619695 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinat... |
OMIM:619910 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Flared metaphysis,... |
ORPHA:93346 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Renal hypoplasia, Scoliosis, Nephroblastoma, Venous malformation |
OMIM:612918 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Facial palsy, Hyperlordosis, Delayed skeletal maturation, Limitation of join... |
ORPHA:3068 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foo... |
OMIM:612582 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Thick vermilion border, Ventricular septal defect, Downturned corners of mouth |
OMIM:618974 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Mitral stenosis, Ventricular septal defect, Overlapping toe, Lower extremity joint d... |
ORPHA:163956 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Stiff neck,... |
OMIM:617022 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, P... |
ORPHA:3342 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se... |
OMIM:619980 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal defect, Intestinal ma... |
ORPHA:457193 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Abnormal aortic ar... |
ORPHA:1596 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Velopharyngeal insufficiency, Submuc... |
OMIM:619314 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Postaxial hand polydactyly, Chronic kidney dise... |
OMIM:615630 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Proximal placement of thumb, Short neck, Limited el... |
OMIM:261540 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:85321 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Frontoocular Syndrome |
|
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect |
OMIM:605321 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, High palat... |
ORPHA:96148 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short neck, Cl... |
OMIM:300990 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptoda... |
ORPHA:261344 |
Schwartz-Jampel Syndrome |
|
Apnea, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Death in ... |
ORPHA:800 |
Fg Syndrome Type 1 |
|
Dental crowding, Generalized joint laxity, Abnormal sternum morphology, Fused teeth, High palate,... |
ORPHA:93932 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Short neck, Long fingers, Patent ductus arter... |
OMIM:615668 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect, Broad alveolar ridges |
OMIM:314320 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow che... |
OMIM:615777 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Smooth philtrum, Ankle flexion contracture, High, narrow palate, Patent duc... |
OMIM:608799 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar dislocation, Conical toot... |
OMIM:619143 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Renal hypoplasia, Metopic synostosis, Narrow mouth, Vesicoureteral refl... |
OMIM:613735 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, ... |
OMIM:619149 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308750 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Proximal placement of thumb, Short neck, Renal ... |
OMIM:229850 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Abnormality of the upper urinary tract, Craniosynostosis, Abnormality of the u... |
ORPHA:2145 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Short neck, Epispadias, De... |
OMIM:148050 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Delayed skeletal maturation, Tachypnea, Methylmalonic aciduria, Coarcta... |
OMIM:614857 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Downturned corners of mouth, Short philtrum, Atrial sept... |
OMIM:601808 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral segm... |
ORPHA:251014 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hypospadias, Ventricular septal defect, Sandal gap, Short ne... |
ORPHA:254346 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Hamamy Syndrome |
|
Osteopenia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Long toe, Syndacty... |
OMIM:611174 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... |
ORPHA:2729 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi... |
OMIM:309800 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Orofac... |
ORPHA:2990 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Duodena... |
OMIM:617784 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... |
OMIM:602111 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip, Supernumer... |
OMIM:619122 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Joint stiffness, Ovoid thoracol... |
OMIM:252920 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Del... |
OMIM:612921 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Long philtrum, Atrial septal defect, Pulm... |
OMIM:300887 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropa... |
ORPHA:3033 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Short neck, Tapered finger, Paten... |
ORPHA:251071 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... |
ORPHA:96061 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Ventricular septal defect... |
ORPHA:505237 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Neonatal respiratory distress, Ventricular septal... |
ORPHA:1393 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Carious teeth, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Optic atrophy, Diap... |
OMIM:122860 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thorac... |
OMIM:252930 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Optic at... |
OMIM:606812 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Atrial... |
OMIM:194050 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Upper airway obstruction, High palate, Hypodontia, ... |
OMIM:612776 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... |
ORPHA:1486 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Patent ductus arteriosus, Renal tubular dysfunction, ... |
OMIM:614886 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteri... |
ORPHA:500159 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphology, Unilateral renal a... |
ORPHA:2673 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa... |
OMIM:619967 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Cat Eye Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total anomalous pulmonary ... |
OMIM:115470 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Delayed skeletal maturation, Flexion contracture, Hyperexte... |
ORPHA:544503 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Brachydactyly, Ventricular septal defect, Optic atrophy, Cleft palate, Vesi... |
OMIM:614261 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Renal cyst, Narrow chest, Absent or minimally ossified vertebral bodies, Sho... |
ORPHA:93271 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Eruption failure, High palate, Sh... |
OMIM:166250 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... |
OMIM:608978 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... |
OMIM:618067 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Macrodontia, High, narrow palate, Small hand, Hemiverteb... |
OMIM:617694 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Organic aciduria, Long philtrum |
OMIM:614741 |
Fryns Syndrome |
|
Tented upper lip vermilion, Short neck, Abnormal aortic arch morphology, High palate, Narrow ches... |
ORPHA:2059 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... |
OMIM:220110 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Proximal placement of thumb, Short neck, Limited elbow movement, Downturne... |
OMIM:610759 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Deep... |
OMIM:227330 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Craniosynostosis, Unilateral renal agenesis |
ORPHA:1064 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Urinary incontinence, Rocker bottom foot, Tapered finger, Pericardial effusion,... |
OMIM:620070 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra... |
OMIM:252900 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Bicuspid aortic valve, Sandal gap, Cleft soft palate, Abnormality of the dentition,... |
OMIM:618529 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Delayed eruption of permanent teeth, Narrow mouth, Atrial septal defect, Microdontia, Open mouth |
OMIM:619356 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Acrorenal-Mandibular Syndrome |
|
Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split h... |
OMIM:200980 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Dislocated r... |
OMIM:605039 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Thick lower lip vermilion, Nephrocalcinosis, Wide mouth, Atrial septal defect, Open... |
OMIM:611087 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Orofaciodigital Syndrome Type 10 |
|
Duplication of thumb phalanx, Tarsal synostosis, Short neck, Cleft soft palate, Accessory oral fr... |
ORPHA:2756 |
Noonan Syndrome 7 |
|
Joint hypermobility, Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Thick vermilio... |
OMIM:613706 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R... |
ORPHA:97362 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Coarse metaphyseal trabecularization, Increased bone mineral density, ... |
ORPHA:1782 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Atrial septal defect, Patent foramen ovale, Adducted thumb |
ORPHA:89844 |
Giant Cell Arteritis |
|
Glossitis, Renal insufficiency, Pericarditis, Epistaxis, Joint stiffness, Cough, Vasculitis, Opti... |
ORPHA:397 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... |
OMIM:202650 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
3Mc Syndrome 1 |
|
Sacral dimple, Ventricular septal defect, Single interphalangeal crease of fifth finger, Dental c... |
OMIM:257920 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Femora... |
OMIM:616482 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... |
OMIM:619121 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart morphology, Hydronep... |
ORPHA:2237 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Abnormal dental mo... |
ORPHA:191 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Cerebral hemorrhage, Knee contracture... |
OMIM:620278 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicou... |
OMIM:616894 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Secundum atrial septal defect, Abnormal fibular epiphysis morphology, Short lower... |
ORPHA:96190 |
German Syndrome |
|
Camptodactyly of finger, Short neck, Limitation of joint mobility, Orofacial cleft, Abnormal card... |
ORPHA:2077 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Abnormal tibia morphology, Flexion co... |
ORPHA:666 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Abnormality of the gingiva, Renal... |
ORPHA:798 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Prominent fingertip pads, Arachnodactyly, Hyperlordosis, Mitral valve prolapse, Pec... |
OMIM:300986 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Widely spaced teeth, Thick upper lip... |
OMIM:617616 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Exertional dyspnea, Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308700 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... |
OMIM:600920 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis, Ankle clonus, Apneic episodes in infancy |
OMIM:301058 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, V... |
OMIM:618265 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Ventricular septal defect, Sandal gap, Pectus excavatum, Narrow mouth, ... |
OMIM:270450 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth, Short philtr... |
OMIM:194190 |
Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... |
ORPHA:93298 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Downturned corners of mouth, Shor... |
ORPHA:280 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smoo... |
OMIM:601559 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Arachnodactyly, Ky... |
ORPHA:261222 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Optic atrophy, Renal hypoplasia, Ne... |
OMIM:617913 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Cough, Abn... |
ORPHA:464329 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Glandular hypospadias, Respiratory insufficiency, Thin ribs, High palate, Mi... |
ORPHA:456328 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Atrial septa... |
OMIM:608629 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s... |
OMIM:602535 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Epispadias, High, narrow palate, Clinodactyly of the 5... |
ORPHA:2554 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Nephrocalcinosis, Renal tubula... |
OMIM:208085 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy... |
OMIM:107480 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short neck, Downturned corners of mouth, High palate, Clinodactyly of the 5... |
ORPHA:177907 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Genu valgum, Abnormal palate morphology, Tetralogy of Fallot, A... |
ORPHA:1381 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Renal agenesis, Hypospadias, Ventricular septal defect, Short neck, Absent... |
ORPHA:124 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Short neck, Fetal pyelectasis, Long philtrum, Adducted thumb |
ORPHA:50810 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Joint laxity, Tented upper lip vermilion, Nephrocalcinosis, Wide mouth, Atrial septal defect, Ope... |
ORPHA:500533 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Joint stiffness, Non-midline cleft lip, Cleft palate, Vertebral segment... |
ORPHA:1915 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Death in in... |
OMIM:610682 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Atrial septal defect, Microgastria, Multicystic kidney dy... |
ORPHA:2538 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, High palate, Atrial septal defect, Vesicoureteral reflux, Patent f... |
ORPHA:2745 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Apnea, Hypoplastic ilia... |
ORPHA:85201 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart |
OMIM:616276 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em... |
ORPHA:436 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, High pal... |
OMIM:618005 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,... |
ORPHA:3301 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Renal agenesis, Ventricular septal defect, Short neck, Absent thumb, Esophageal... |
OMIM:300514 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo... |
ORPHA:2363 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Tachyp... |
ORPHA:2751 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Renal insufficiency, Optic atrophy, Cardiomyopathy, Stroke |
ORPHA:79312 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Abnormality of the dentition, Recurrent pneumonia, Spinal canal stenosis, Bronchie... |
OMIM:618282 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Thick lower lip vermilion, ... |
OMIM:620075 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia... |
ORPHA:77298 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, 3-4 finger cut... |
OMIM:181270 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Bilateral renal hypoplasia, Prea... |
OMIM:243605 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Short philtrum, Atrial septal de... |
OMIM:616938 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... |
ORPHA:352665 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... |
ORPHA:2438 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy |
ORPHA:91130 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Narrow mouth, Pectus carinatum, Long philtrum, Atrial septal defect, Broad ... |
ORPHA:261295 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Pleural effusion, Abnormal stern... |
OMIM:615355 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Pectus e... |
OMIM:605275 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog... |
OMIM:617914 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... |
ORPHA:2847 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great art... |
OMIM:616789 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... |
OMIM:616229 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... |
ORPHA:261330 |
Ververi-Brady Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Delayed skeletal maturation, Wide mouth, High palate, ... |
OMIM:617982 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Atrial s... |
OMIM:619769 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Exaggerated ... |
ORPHA:2215 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short neck, Postaxial polydactyly, Hamartoma of tongue, Accessory oral frenulu... |
OMIM:616546 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Patent ductus arter... |
ORPHA:84064 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Rocker bottom foot, Short neck, Abnormality of the dentition, Patent ductus arterios... |
ORPHA:363528 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Cubitus valgus, Microdont... |
OMIM:269300 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Vascular ring, Kn... |
OMIM:603387 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... |
ORPHA:818 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Atrial septal ... |
OMIM:600373 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, S... |
ORPHA:2044 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megaco... |
OMIM:614749 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Pectus carinat... |
OMIM:616564 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Short neck, Deep philtrum, Flexion contracture, Hemivertebrae, Abnorm... |
ORPHA:96334 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Emphysema, ... |
OMIM:614816 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:300707 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, High palate, Narrow c... |
ORPHA:280633 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Deep philtrum, Pectus carinatum,... |
OMIM:115150 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Wiedemann-Steiner Syndrome |
|
Accelerated skeletal maturation, High palate, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:605130 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
Al-Raqad Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Narrow mouth |
OMIM:616459 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomal... |
OMIM:617478 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Abnormal renal morphology, Humeroradial synosto... |
OMIM:207410 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Short neck, Pectus excavatum, Long fingers, High, narrow palate, Hip dislocation, A... |
ORPHA:96092 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Patent duc... |
OMIM:300712 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Cleft upper li... |
ORPHA:50 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
Alazami Syndrome |
|
Wide mouth, Slender long bone, Short philtrum, Widely spaced teeth, Scoliosis, Thick vermilion bo... |
ORPHA:319671 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abno... |
ORPHA:261311 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myofiber disarray, High palate, Hypertrophic cardiomyopat... |
OMIM:604377 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low... |
OMIM:613630 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial ... |
ORPHA:49041 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Pectus excava... |
OMIM:606851 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Duplicated colon, Hypospadias, Rectoperineal fistula, Di... |
ORPHA:227 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Accelerated skeletal maturation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Nar... |
OMIM:312870 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, High, narrow palate, Dyspnea, Optic atrophy, Wide mouth, Ab... |
ORPHA:2707 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Respiratory distress, Thin upper lip vermilion, Deep philtrum, Optic atrophy, Dental ... |
ORPHA:329178 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, High, narrow palate, Renal cyst, Nephrocalcinosis, Downtu... |
ORPHA:369837 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ureteral stenosis, Ventricular septal defect, Rocker bottom foot, Prominent palatine ... |
OMIM:272950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... |
OMIM:300967 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respira... |
OMIM:614299 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalange... |
ORPHA:2658 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Downturned corners of mouth, Wide mout... |
OMIM:615009 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Clef... |
OMIM:611134 |
Hardikar Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Thoracolumb... |
OMIM:301068 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Short neck, Abnormal heart morphology, Downturned corners ... |
ORPHA:369891 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Flexion contracture, Right atrial enlargement, Rib osteo... |
OMIM:614008 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mouth,... |
OMIM:615539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Ventricular sept... |
OMIM:309520 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Smooth philtrum, Thin upper lip vermilion, Kyphosco... |
ORPHA:263508 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Submucous cleft hard ... |
OMIM:619103 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies... |
ORPHA:79255 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Hypospadias, Ventricular septal defec... |
OMIM:300998 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Kabuki Syndrome 2 |
|
Joint laxity, Prominent fingertip pads, Natal tooth, Lower lip pit, Hip dislocation, Dental maloc... |
OMIM:300867 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Filippi Syndrome |
|
Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat... |
OMIM:272440 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segme... |
ORPHA:1394 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Ureteral stenosis, Cone-sh... |
OMIM:309350 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A... |
ORPHA:3474 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Atrial septal defect, Double ... |
ORPHA:1667 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:2255 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus... |
OMIM:619995 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Serkal Syndrome |
|
Orofacial cleft, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Tooth... |
OMIM:277600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Sagittal craniosynostosis, Small hand, Cleft palate, Tubulointerstitia... |
ORPHA:459061 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Rectal fistula, Fetal pyelectasis... |
ORPHA:49 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiph... |
ORPHA:2643 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal ... |
OMIM:244450 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Down... |
OMIM:136140 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Elbow contracture, Allergic rhinitis, Pectus excavatum, Patent duct... |
OMIM:618162 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Abnormal respiratory system physiology, Coarctation of aorta, Biventri... |
ORPHA:101028 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Abnormal fi... |
ORPHA:896 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, ... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Sudden episodic apnea, ... |
ORPHA:590 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H... |
ORPHA:480880 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d... |
OMIM:617397 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Short neck, Widely-spaced maxillary central incisors, High palate, Ve... |
OMIM:309580 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Transaldolase Deficiency |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Asthma, Deep philtrum, Coarctati... |
OMIM:606003 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... |
OMIM:258850 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... |
OMIM:617952 |
Sotos Syndrome |
|
Joint laxity, Ventricular septal defect, Abnormality of the kidney, Accelerated skeletal maturati... |
OMIM:117550 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra... |
ORPHA:85184 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Wide... |
OMIM:619950 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Secundum atrial septal defect, Abnormal 5th f... |
ORPHA:1439 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:2299 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosis, Cough, ... |
ORPHA:2414 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Proboscis Lateralis |
|
Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Patent ductus arter... |
ORPHA:141099 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Joint hypermobility, Cardiomegaly, Pectus excavatum, Narrow mouth, De... |
ORPHA:2463 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnorma... |
ORPHA:1666 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Finger syndacty... |
ORPHA:2052 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Optic atro... |
OMIM:618164 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Cleft palate |
OMIM:620210 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Abnormal ste... |
OMIM:609192 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Tapered finger, High, narrow palate, 2-3 toe syndactyly,... |
ORPHA:485405 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Nar... |
OMIM:617360 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Limitation of joint mobility, Optic atrophy, Osteoporosis, O... |
ORPHA:99742 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 fi... |
OMIM:164200 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis, Situs inversus totalis, Narrow mouth, Microglossia, Ab... |
ORPHA:990 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Ventricular septal defect, Dental crowding, Pectus excavatum, K... |
ORPHA:79329 |
Noonan Syndrome 5 |
|
Short neck, Wide mouth, Abnormal sternum morphology, Thick vermilion border, Pulmonic stenosis, A... |
OMIM:611553 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... |
ORPHA:77301 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Ventricular septal defect, Abnormality of the kidney, ... |
ORPHA:141127 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed... |
OMIM:241530 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, Atrial septal defe... |
OMIM:617506 |
Monosomy 18Q |
|
Secundum atrial septal defect, Downturned corners of mouth, High palate, Short philtrum, Micropen... |
ORPHA:1600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... |
OMIM:271665 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Delayed skeletal maturation, Patent ductus arteriosus after birth at te... |
ORPHA:251061 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Joint laxity, Toe syndactyly, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Tented upp... |
OMIM:619720 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Triangular mouth, Renal cy... |
OMIM:257300 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High ... |
OMIM:182212 |
White-Sutton Syndrome |
|
Duplicated collecting system, Joint laxity, Wormian bones, Optic nerve hypoplasia, Short neck, Pa... |
OMIM:616364 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Renal cyst, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Atrial septa... |
OMIM:613610 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynost... |
OMIM:618027 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ... |
ORPHA:3206 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con... |
OMIM:616867 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Delayed skeletal maturation, Elbow flexion contracture, Hypercalciuria, Lacunar s... |
OMIM:618440 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... |
ORPHA:235 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Reduced bone mineral density, Scoliosis, Atrial... |
OMIM:619115 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermi... |
OMIM:612938 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, A... |
ORPHA:3035 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelast... |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Micropenis, Optic atrophy, Death in childhood |
OMIM:615597 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Flexion contracture, Overtubulated long bones, Neonatal death, Atrial septa... |
OMIM:275210 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Microdontia, Patent ductus arteriosus, Delayed skeletal ma... |
ORPHA:2637 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal thumb, Atrial... |
ORPHA:84 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... |
OMIM:269150 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Carious teeth,... |
ORPHA:2769 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Downturned corners of mouth, Long thorax, Sh... |
OMIM:616268 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art... |
ORPHA:2041 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Hypospadias, Dental crowdin... |
OMIM:219000 |
Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, ... |
ORPHA:3309 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, High palate, Short philtrum |
OMIM:618354 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Cleft upper lip, Optic... |
OMIM:304050 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Heparan su... |
OMIM:252940 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Recurrent urinary tract infections, Short metacarpal, Brachydactyly, Dental crowdi... |
OMIM:617157 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br... |
OMIM:617180 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Deep philtrum, Cleft... |
ORPHA:404440 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Exaggerated cupid's bow, Pectus excavatum, Flexion contr... |
ORPHA:254528 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Hypoplasia of penis, Patent ductus arteriosus, Mitral valve prolapse, High palate,... |
ORPHA:251066 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arter... |
OMIM:601005 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Atrial septal defect, Neonatal respiratory distress, Hypospadias, Ventricul... |
ORPHA:209905 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Abnormal morphology of ulna, Short neck, Pectus excavatum, Submu... |
ORPHA:1340 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Joint stiffness, Non-midlin... |
ORPHA:1300 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Native American Myopathy |
|
Joint laxity, Cleft palate, Abnormal curvature of the vertebral column, Respiratory insufficiency... |
ORPHA:168572 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Shortening of all distal phalan... |
OMIM:614207 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Asthma, Cleft palate, Orofacial ... |
ORPHA:280200 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft... |
OMIM:277170 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Scoliosis, Long philtrum, Patent for... |
OMIM:619179 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Anteriorly plac... |
OMIM:151050 |
Limb Body Wall Complex |
|
Ventricular septal defect, Abnormality of the kidney, Broad hallux, Aplasia/hypoplasia involving ... |
ORPHA:2369 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Orofacial cleft, High palate, Short philtrum, Patchy reduction of bone mi... |
ORPHA:221120 |
Grange Syndrome |
|
Ventricular septal defect |
ORPHA:79094 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Cardiomegaly, Pericardi... |
OMIM:115197 |
Turnpenny-Fry Syndrome |
|
Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downturned corners of mouth,... |
OMIM:618371 |
Tetanus |
|
Respiratory distress, Stiff neck, Elevated urinary norepinephrine level, Tachypnea, Elevated urin... |
ORPHA:3299 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple ... |
ORPHA:2728 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Flexion contracture, Optic atr... |
OMIM:619321 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Joint laxity, Thin upper lip vermilion, Hypospadias, Ventricular septa... |
ORPHA:1465 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Hi... |
ORPHA:3472 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Downturned corners of mouth |
ORPHA:521308 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Flexion contracture, Knee flexion contracture, Downturned corners of mouth, High pala... |
OMIM:300868 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Arachnodactyly, Femur fracture, Overlapping toe, Duodenal ulcer, Abnormalit... |
OMIM:605822 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture |
ORPHA:2596 |
Craniofacial Microsomia 1 |
|
Ectopic kidney, Hemivertebrae, Vesicoureteral reflux, Vertebral hypoplasia, Multicystic kidney dy... |
OMIM:164210 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadias, Ventric... |
ORPHA:163979 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Optic atrophy, Respiratory distress |
ORPHA:289916 |
Distal Deletion 6P |
|
Abnormality of the dentition, Orofacial cleft, Short foot, Downturned corners of mouth, Vertebral... |
ORPHA:96125 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Thick vermilion ... |
ORPHA:46627 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Clinodactyly of th... |
ORPHA:138 |
Branchioskeletogenital Syndrome |
|
Short neck, Upper limb peromelia, Anteriorly placed anus, Downturned corners of mouth, Short phil... |
ORPHA:1299 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Atrial septal... |
ORPHA:353281 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Hypospadias, Secundum atrial septal defect, Contracture of the proximal ... |
OMIM:618109 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Atrial septal defect, Anal stenosis, Ureteral hypoplasia, Bladder trabecula... |
OMIM:614080 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Noonan Syndrome 1 |
|
Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial septal defect, ... |
OMIM:163950 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Ectopic kidney, Absent radius, Preaxial hand polydac... |
ORPHA:233 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo... |
OMIM:608328 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Toe syndactyly, Delayed skeletal maturation, Renal hypopl... |
ORPHA:264200 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow trac... |
ORPHA:79328 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contr... |
ORPHA:171430 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Rena... |
ORPHA:3186 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle apla... |
ORPHA:137888 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Hypospadias, Apnea, Patent ductus arteriosus, F... |
ORPHA:17 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, O... |
ORPHA:1790 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Abnormality of the upper urinary tract, Esoph... |
ORPHA:3380 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Patent ductus arteriosus, Short toe, Deep philtrum, Widely spaced toes, Aortic ro... |
ORPHA:404443 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hy... |
ORPHA:79404 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Secundum atrial septal defect, Long hallux, Pectus carinatum, High pal... |
OMIM:620194 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis |
ORPHA:2470 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus... |
ORPHA:2328 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Clinod... |
OMIM:607872 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal dental pulp mor... |
ORPHA:363700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, High palate, Short philtrum, Death in childhood, Patent foramen ... |
OMIM:619127 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Atrial septal defect, Decreased sk... |
ORPHA:1662 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Pulmonary embolism, Venous insufficiency, Patent ductus arterio... |
ORPHA:90308 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Abnormality... |
ORPHA:178303 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Tubulointerstitial nephritis, Death in childhood, Hypertrophic cardiomyopathy, Patent fo... |
OMIM:614582 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:264700 |
Phakomatosis Pigmentokeratotica |
|
Renal transitional cell carcinoma, Unilateral renal hypoplasia, Scoliosis, Hypophosphatemic ricke... |
ORPHA:2874 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cl... |
ORPHA:261236 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short neck, Cleft palate, Shield chest, Short philtrum, Cubitus valgus, Brachydac... |
ORPHA:247768 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... |
ORPHA:1329 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Dilated cardiomyopathy, Optic atrophy, 3-Methylglutari... |
OMIM:610198 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5... |
OMIM:616145 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Dental crowding, Pierre-Robin sequence, Cleft palate, Narrow mouth |
OMIM:617201 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Res... |
OMIM:619909 |
Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Cleft palate |
ORPHA:1770 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,... |
ORPHA:1051 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Prominent superficial veins, Overlapping toe, Dental crowding, Kyphoscoliosis, Pylo... |
OMIM:617402 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short neck, Pectus excavatum... |
OMIM:614294 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Short neck, Downturned corners of mouth, High palate, Short p... |
ORPHA:3310 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus,... |
ORPHA:3097 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ventricular septal defect, Episodic tachypnea, Pneumonia, Pericardial effus... |
ORPHA:26793 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Pate... |
OMIM:620327 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Hypospadias, Craniosynostosis, Optic atrophy,... |
OMIM:123790 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Pectus excavatum, Dyspnea, Patent ductus arteriosus, Thick lower lip vermi... |
ORPHA:555877 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Apnea, Hamartoma of tongue, Renal hypoplasia/a... |
ORPHA:2754 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... |
ORPHA:284169 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Stroke-like episode, High palate, Pulmonary arterial hypertension |
OMIM:619272 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Absent pulmona... |
OMIM:600460 |
3Mc Syndrome 2 |
|
Hypospadias, Limited elbow movement, Craniosynostosis, Cleft upper lip, Hip dislocation, Horsesho... |
OMIM:265050 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Accessory oral frenulum, Cleft palate |
ORPHA:79113 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th ... |
OMIM:620113 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Perineal hypospadias, Pectus... |
ORPHA:3134 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Overlapping toe, Tapered finger, Accelerated skeletal maturation, Arteria lusori... |
OMIM:618653 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Optic neuropathy, In... |
OMIM:619727 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Short neck, Patent ductus arteriosus, Hypoxemia, Submucous cleft ... |
ORPHA:2282 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Metatarsus adductus, Patent ductus arteriosus... |
ORPHA:293939 |
Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Rectal prolapse, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, High palate, Atrial septal defect, Long philtrum, Jo... |
OMIM:601776 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Arthrogryposis multiplex ... |
OMIM:614961 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Desmosterolosis |
|
Increased bone mineral density, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia,... |
ORPHA:35107 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Short neck, Patent ductus arteriosus, Cleft... |
ORPHA:3338 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventricular canal defect |
OMIM:619123 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Prominen... |
OMIM:615873 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Secundum atrial septal defect, Multiple prenatal fractures, Patent... |
OMIM:616866 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Cardiomegaly, Everted lower lip vermili... |
OMIM:608013 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sagittal crani... |
OMIM:145420 |
Sclerosteosis 1 |
|
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi... |
OMIM:269500 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Decreased nerve conduction velocity, Flexion contracture, Subdural hemorrhage, ... |
OMIM:615368 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... |
OMIM:276820 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Long fingers, Pa... |
OMIM:617746 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Abnormal form of the vertebral b... |
ORPHA:581 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Coccidioidomycosis |
|
Respiratory distress, Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney... |
ORPHA:228123 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217085 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic acidur... |
OMIM:251000 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Stt3B-Cdg |
|
Respiratory distress, Micropenis, Optic atrophy |
ORPHA:370924 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Missing ribs, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, Lum... |
OMIM:619859 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Ventricular septal defect, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... |
ORPHA:93324 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... |
OMIM:619762 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... |
OMIM:231680 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... |
ORPHA:264450 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, High palate, Prominent fingertip pads, Atrial sept... |
OMIM:147920 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of primary teeth, Protruding ... |
OMIM:610253 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus car... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus car... |
ORPHA:363958 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Long... |
OMIM:617557 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Ectopic kidney, Pectus excavatum, Patent ductus art... |
ORPHA:1519 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... |
ORPHA:2804 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:612530 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Kyphoscoliosis |
ORPHA:98805 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217093 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Prom... |
ORPHA:576 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Hyperlordosis, ... |
OMIM:234100 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Short neck, Limited knee fl... |
OMIM:258315 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Short neck, Pectus excavatum, Missing ribs, Pyloric steno... |
OMIM:147791 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Schilbach-Rott Syndrome |
|
Hypospadias, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous synd... |
OMIM:164220 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Multiple ren... |
OMIM:618733 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, High palate, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, High palate, ... |
ORPHA:353277 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Reduced bone ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Reduced bone ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Reduced bone ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Reduced bone ... |
ORPHA:881 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261537 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal metaphysis mo... |
ORPHA:290 |
15q26 overgrowth syndrome |
|
Short neck, Abnormal finger morphology, High palate, Vesicoureteral reflux, Long toe, Arachnodact... |
DECIPHER:81 |
Jansen-De Vries Syndrome |
|
Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Calcaneovalgus d... |
ORPHA:2152 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Sagittal craniosynostosis, Pectus excavatum, Left unilambdoid synostos... |
OMIM:609942 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormal preputium m... |
ORPHA:2907 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Prominent sternum, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Thin upper lip vermilion, High palate, Smooth philtrum |
OMIM:620242 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Esophageal varix, Flexion contracture, Respiratory ... |
ORPHA:367 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... |
OMIM:602782 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Flexion contracture,... |
OMIM:253800 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, CNS foam cells, Short toe, Flexion contracture, Os... |
ORPHA:333 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Secundum atrial... |
OMIM:612541 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, High palate, Widely s... |
OMIM:303600 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Hydrolethalus |
|
Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Clinod... |
OMIM:613805 |
King-Denborough Syndrome |
|
High palate, Deep philtrum, Ventricular septal defect |
OMIM:619542 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Pulmonar... |
OMIM:301030 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Pectus carinatum, Hi... |
OMIM:218040 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Decreased skull os... |
OMIM:602361 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Short philtrum |
ORPHA:261304 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo... |
OMIM:154500 |
Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Secundum atrial septal defect, Optic atrophy, ... |
OMIM:608688 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Apnea, Abnormal pulmonary valve morphology, ... |
ORPHA:667 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Abdominal aortic aneurysm, Bi... |
ORPHA:284984 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Patent ductus ... |
ORPHA:980 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:1923 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Ventricular septal defect, Widely-spaced incisors |
OMIM:617635 |
Distal Deletion 12Q |
|
Ectopic kidney, Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the ... |
ORPHA:96149 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompact... |
OMIM:619167 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Delaye... |
OMIM:244460 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Hypospadias, Ventricular septal defect, Cleft lip, Patent ductu... |
OMIM:616975 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Persistent open anterior fontanelle, Hypospadias, Ventricular septal defect, Me... |
OMIM:614866 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Urinary incontinence, Respiratory insufficiency due to muscle weakness, Pyloric sten... |
ORPHA:169189 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Tibial bowing, Short palm, Joint contracture, Delayed skeletal ma... |
OMIM:601812 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Cleft palate... |
OMIM:106260 |
Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Perineal hypospadias, Pec... |
OMIM:312830 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defect, Downturned cor... |
OMIM:616651 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... |
ORPHA:261323 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261552 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum |
OMIM:618665 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... |
ORPHA:289157 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... |
OMIM:612289 |
Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectus carinatum, Knee flexion ... |
OMIM:614976 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth... |
OMIM:612731 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt... |
ORPHA:79282 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Vasculitis, C... |
ORPHA:2331 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration |
OMIM:614688 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Dental crowding, Abnormality of the dentition, Delayed skeletal matura... |
ORPHA:769 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion |
ORPHA:3392 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Aymé-Gripp Syndrome |
|
Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered finger, Pericardial... |
ORPHA:1272 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Hypospadias, Facial palsy, Pectus excavatum, Short thumb, Hip subluxation, Slender ... |
OMIM:619325 |
Listeriosis |
|
Back pain, Respiratory distress, Pericarditis, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia,... |
ORPHA:533 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Microd... |
ORPHA:363611 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Short tibia |
OMIM:620306 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... |
ORPHA:3003 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Narrow mou... |
ORPHA:261112 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Atrial septal ... |
OMIM:301044 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Patent ductus ar... |
OMIM:267010 |
Neu-Laxova Syndrome 1 |
|
Short neck, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pterygium, Patent foramen oval... |
OMIM:256520 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Hand polydactyly, Scolio... |
OMIM:217100 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Pulmonary valv... |
ORPHA:96129 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Cleft soft palate, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial instability... |
OMIM:614557 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the anus, Hypospa... |
ORPHA:1606 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Renal hypoplasia/ap... |
ORPHA:991 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Short philtrum, Smooth p... |
ORPHA:293725 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectoureth... |
OMIM:300000 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Cleft palate, Thick vermilion border, Short philtrum, Narrow mouth |
ORPHA:447980 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Ectopic kidney, Flexion contracture, Hypoplastic iliac wing, Pterygium, Micropenis, S... |
OMIM:263650 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Cleft palate, Tetralogy... |
ORPHA:1908 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Glo... |
ORPHA:36234 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Optic atrophy, Cleft palate, Narrow palate, Anteriorly pl... |
ORPHA:1555 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Achilles tendon contra... |
OMIM:618076 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Clinodactyly ... |
OMIM:619522 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Thick... |
ORPHA:3071 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingi... |
ORPHA:2753 |
Alg12-Cdg |
|
Proximal placement of thumb, Short philtrum, Abnormal bone ossification, Clinodactyly of the 5th ... |
ORPHA:79324 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Protruding tongue, Conotruncal defect, Coarctation of a... |
ORPHA:96147 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Ventricular septal defect, Thoracic hypoplasia, Abnormal heart morphology |
ORPHA:254534 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low... |
OMIM:616920 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, St... |
OMIM:208540 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, D... |
ORPHA:340 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Prominent metopic ridge, Dilation of Virchow-Robin spaces, Congenital hip dislocation, Exaggerate... |
OMIM:619512 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Kyphosis, Flexion contracture, Small hand, Xerostomia, Oste... |
ORPHA:398069 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe... |
ORPHA:781 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Thin upper lip vermilion, Stomatitis, Dextrocardia, Cystathioninuria, Patent ductus ar... |
OMIM:277380 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Submucous cleft hard palate, Flexion contracture, Ankle clonus, Aortic root aneurysm... |
OMIM:618891 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Downturned corners of mouth, High p... |
ORPHA:199 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Joint laxity, Ventricular septal defect, Short neck, Abnormal stern... |
OMIM:607721 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Central apnea, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion ... |
ORPHA:522077 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Absent t... |
OMIM:227645 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Optic disc pallor, Syndactyly, Patent ductus arteriosus, Double inlet left ... |
OMIM:619869 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Ventricular septal defect, Cleft palate |
OMIM:611812 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Wide penis, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Delayed skeletal maturation, Symphalangism affecting the phalan... |
ORPHA:1292 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Apnea, Osteolysis, Cleft palate, Coarctation ... |
ORPHA:1052 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Cleft lip, Patent ductus arteriosus, High palate, Long philtrum, Patent fora... |
OMIM:251290 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinatum, Cortical thickening... |
ORPHA:309282 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Peripheral pulmonary artery stenosis, Death in infancy, Joint laxity, Sandal gap, Pyl... |
OMIM:613177 |
Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, No permanent dentition, Flexion contractur... |
ORPHA:821 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Atrial septal defe... |
ORPHA:438213 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Short fourth metatarsal, Fetal pyelectasis, Short philtrum, Widely spaced ... |
OMIM:619841 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent foramen ovale, Right ventri... |
OMIM:616028 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpositi... |
OMIM:313850 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Clinodactyly of the 5t... |
ORPHA:466791 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Secundum atrial septal defect, Abnormality of the dentition, Wide mouth, Pulmonic ste... |
OMIM:615802 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate |
OMIM:606164 |
Oeis Complex |
|
11 pairs of ribs, Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesi... |
OMIM:258040 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Patent ductus arteriosus, Delayed skeletal ma... |
OMIM:613457 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Renal insufficiency, Dysuria, Malabsorption, Abnormality of the urethra, In... |
ORPHA:537 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow palate, Wide m... |
OMIM:619312 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... |
OMIM:617300 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Enuresis nocturna, Downtur... |
OMIM:619680 |
Cocaine Intoxication |
|
Respiratory distress, Proteinuria, Glomerulonephritis, Cerebral hemorrhage, Subarachnoid hemorrha... |
ORPHA:90068 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... |
OMIM:613001 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Toe syndactyly, Hypospadias, Ventricular septal defect, ... |
ORPHA:459070 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Renal hypoplasia, Cleft palate, Short middl... |
OMIM:607932 |
Adnp Syndrome |
|
Joint laxity, Respiratory distress, Recurrent urinary tract infections, Thin upper lip vermilion,... |
ORPHA:404448 |
Congenital Heart Block |
|
Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff... |
ORPHA:60041 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Atrial septal defec... |
OMIM:606170 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect |
OMIM:615272 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption |
ORPHA:452 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury |
ORPHA:330021 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale, Recurrent aphthous stomatitis |
OMIM:614868 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Ch... |
ORPHA:137914 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Microdontia, Hypodontia |
OMIM:602482 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Kyphoscoliosis, Pneumothorax, Hip dislocation, Ascending tubular aorta a... |
OMIM:617403 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Organic aciduria, Tachypnea |
ORPHA:79242 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Adenomatous colonic polyposis, Ab... |
ORPHA:79076 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, High pala... |
OMIM:216340 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Craniosynostosis, Narrow mouth, Delayed skeletal maturation, Coarctati... |
OMIM:614114 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... |
ORPHA:348 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocome... |
OMIM:268300 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Submucous cleft hard palate, Flexion contr... |
ORPHA:2671 |
Spondylo-Ocular Syndrome |
|
Thin vermilion border, Ventricular septal defect, Long philtrum |
ORPHA:85194 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Kyphosis, Patent ductus arteriosus, Cleft palate, Var... |
OMIM:153400 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Ventricular septal defect |
OMIM:218350 |
Eisenmenger Syndrome |
|
Respiratory distress, Renal insufficiency, Ventricular septal defect, Increased pulmonary vascula... |
ORPHA:97214 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ec... |
ORPHA:140952 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Stroke |
ORPHA:927 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Elbow contracture, High... |
OMIM:208150 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Dilation of Virchow-Robin spaces, Heparan sulfate excretion in urine, Small... |
OMIM:615273 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Stiff neck, Crackles, Myocarditis, Nonproductive cough... |
ORPHA:319213 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Wide mouth, High palate, Thick vermilion borde... |
ORPHA:261250 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Short philtrum, Open mouth |
OMIM:614424 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
Short Stature-Micrognathia Syndrome |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:617164 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Optic atrophy, Cleft palate, Metatarsus valgus,... |
ORPHA:899 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Open mouth |
OMIM:617751 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplaki... |
ORPHA:2309 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Proteinuria, Transient ischemic attack, Hemolytic-uremic syndrome, Stroke, ... |
OMIM:274150 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:251028 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Swelling of proximal interphalangeal joints, Ank... |
ORPHA:3260 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Meckel Syndrome, Type 1 |
|
Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus, Postaxial fo... |
OMIM:249000 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe synd... |
OMIM:619471 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte... |
OMIM:100300 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... |
ORPHA:438216 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Apnea, Optic nerve hypoplasia, Joint stiffness, Secundum atrial septal defect, ... |
OMIM:609069 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Pursed lips, Kyphoscoliosis, Short neck, Coxa... |
ORPHA:254519 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventricular septal defect, Alveolar ridge overgrowth, Cleft palate, Hig... |
OMIM:235255 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, A... |
ORPHA:100050 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... |
OMIM:309801 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Carious teeth, Thin vermilion border, Narrow mouth, Long... |
ORPHA:96097 |
Lymphatic Malformation 6 |
|
Pectus excavatum, Varicose veins, Pleural effusion, Chylothorax, Scoliosis, Atrial septal defect,... |
OMIM:616843 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition... |
ORPHA:2785 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Sacral dimple, Hypospadias, Abnormal dental enam... |
ORPHA:2556 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, Genu valgum, Hip dysplas... |
OMIM:301066 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mo... |
OMIM:212066 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Lacticaciduria |
OMIM:615595 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Thoracic scoliosis, Thin upper lip vermilion, Broad hallux, Facial p... |
OMIM:620186 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Dilated cardiomyopathy, Cleft pal... |
OMIM:242840 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Hypospadias, Carious teeth, Velopharyngeal ... |
OMIM:223370 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasi... |
OMIM:616777 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion |
ORPHA:292 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... |
OMIM:620072 |
Ogden Syndrome |
|
High, narrow palate, Everted upper lip vermilion, Ventricular septal defect |
ORPHA:276432 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal... |
OMIM:243150 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Ventri... |
OMIM:235730 |
Lymphatic Malformation 13 |
|
Smooth philtrum, Patent ductus arteriosus, Neonatal death, Long philtrum, Atrial septal defect, P... |
OMIM:620244 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular s... |
OMIM:619268 |
Filippi Syndrome |
|
Thin vermilion border, Ventricular septal defect, Short philtrum |
ORPHA:3255 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... |
OMIM:614921 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Short neck, Flexion contracture, Renal cy... |
OMIM:601803 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Apnea, Hyperventilation, Dyspnea, Dilated cardiomyopathy, Optic atroph... |
ORPHA:255210 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Submucous cleft har... |
ORPHA:3047 |
Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Postaxial hand polydactyly, Postaxial foot polydactyly, Pulmonic st... |
ORPHA:96168 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel... |
OMIM:604292 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... |
ORPHA:193 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Cardiomyopathy... |
ORPHA:2131 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta... |
ORPHA:805 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Smooth philtrum |
ORPHA:2789 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Tubulointerstiti... |
ORPHA:37042 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, 3-Methylglutaconic aciduria, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia |
OMIM:160900 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Celiac disease, Ast... |
ORPHA:544488 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Secundum atrial septal defect... |
OMIM:601321 |
Bdv Syndrome |
|
Atrial septal defect, Micropenis |
OMIM:619326 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Myocarditis, Oliguria, Cardiorespiratory arrest |
ORPHA:31824 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
Gitelman Syndrome |
|
Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial... |
ORPHA:358 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Stiff neck, Genu recurvatum, Fac... |
ORPHA:79139 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Op... |
OMIM:610505 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodi... |
ORPHA:31826 |
C Syndrome |
|
Ventricular septal defect, Accessory oral frenulum, Wide mouth, High palate, Thick anterior alveo... |
OMIM:211750 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Deep philtrum, Hip dislocat... |
OMIM:613884 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Narrow mou... |
OMIM:614748 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Scapular winging, Genu recurvatum, Tapere... |
OMIM:619539 |
19Q13.11 Microdeletion Syndrome |
|
Wide mouth, Solitary median maxillary central incisor, Thin vermilion border, Ventricular septal ... |
ORPHA:217346 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Ventricular septal defect |
OMIM:615673 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Organic aciduria, Hyperventilation |
ORPHA:79241 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Narr... |
OMIM:264090 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Zellweger Syndrome |
|
Ventricular septal defect, Malabsorption, Pyloric stenosis, Abnormality of the tongue, High palate |
ORPHA:912 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... |
OMIM:619534 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Keutel Syndrome |
|
Ventricular septal defect |
ORPHA:85202 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr... |
ORPHA:31204 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Enterocolitis, Oliguria, Abnormal respira... |
ORPHA:90051 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Asthma, Nasal flaring, Downturned corners of mouth, Wide mouth, Pelvic ... |
ORPHA:466943 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Scoliosis |
ORPHA:457351 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Alveolar ridge overgrowth, High palate, Prot... |
ORPHA:1655 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Gingival overgrowth, Abnormal heart morphology, Macroglossia, Cardiomy... |
ORPHA:354 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormal lip morphology |
ORPHA:93958 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Thick lower lip vermilion, Orofacial cleft, Cleft palate, Short upper ... |
ORPHA:1692 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Medial calcification of large arteries, Delayed skeletal maturation,... |
ORPHA:391487 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Long philtrum, Smoo... |
OMIM:619306 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Craniosynostosis, Abnormality of ... |
ORPHA:506358 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid... |
OMIM:251100 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Widely ... |
OMIM:619229 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hypospadias, Tapered finger, Abnormality of canine, Short thumb, Chorde... |
ORPHA:477993 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Oculodentodigital Dysplasia |
|
Median cleft lip, Ventricular septal defect, Abnormal dental enamel morphology, Premature loss of... |
ORPHA:2710 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Abn... |
ORPHA:1546 |
Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Cardiac rhabdomyoma, Narrow mouth |
OMIM:618971 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick vermilion border, Atrial... |
OMIM:300896 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Dental malocclusion, High palate, Widely spaced teeth, Long philtrum |
OMIM:606232 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Oligodontia, Short philtrum, Thick vermilion bo... |
OMIM:609460 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Gingival overgrowth, Macroglossia, High palate |
ORPHA:96191 |
Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Intracranial hemorrhage, High pala... |
ORPHA:79318 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Mitral valve prolapse, Taurodontia, Macrodontia o... |
OMIM:616202 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Dental crowding, Downturned corners of mouth, Macroglossia, Wide mouth... |
OMIM:618268 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Ventricular septal defect |
OMIM:614653 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Optic atrophy, Ost... |
OMIM:612301 |
X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Long philtrum, Mitral... |
ORPHA:96201 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Tracheoesopha... |
OMIM:164280 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Narrow mouth, Tetralog... |
OMIM:222470 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ductus arter... |
OMIM:613355 |
Rodrigues Blindness |
|
Nasal flaring, Tooth malposition |
OMIM:268320 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Dilated cardiomyopathy, Cleft pal... |
OMIM:619573 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Single ventricle, Solitary median ma... |
OMIM:157170 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Protruding tongue, High, narrow palate, Macroglossia, High palate |
OMIM:214100 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
OMIM:222448 |
Tbck-Related Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High, narrow palate, Macroglossia, Pulmoni... |
ORPHA:488632 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheoesophageal fistula, Orofacial cleft |
ORPHA:268249 |
Liver Disease, Severe Congenital |
|
Joint laxity, Chronic gastritis, Recurrent urinary tract infections, Status asthmaticus, Hypospad... |
OMIM:619991 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Narrow mouth, High palate, Small, conical t... |
ORPHA:2962 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Alveolar ridge overgrowth, Mitral valve prolapse,... |
ORPHA:444072 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Clinodactyly of the 5th ... |
OMIM:243800 |
Holoprosencephaly |
|
Median cleft lip, Ventricular septal defect, Abnormal pulmonary valve morphology, Bilateral cleft... |
ORPHA:2162 |
Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
Focal Dermal Hypoplasia |
|
Abnormal dental morphology, Ventricular septal defect, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2092 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Abnormality of the dentition,... |
ORPHA:955 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic ac... |
OMIM:617156 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Ventricular septal defect |
OMIM:250410 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect |
ORPHA:166035 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Acce... |
ORPHA:64 |
Plague |
|
Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Acute i... |
ORPHA:707 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cle... |
ORPHA:434179 |
Leptospirosis |
|
Respiratory distress, Papilledema, Pericarditis, Cellular urinary casts, Cough, Pleural effusion,... |
ORPHA:509 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Ventricular septal defect, Short philtrum |
OMIM:619575 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Dental malocclusion, High palate, Narrow mouth... |
OMIM:102500 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... |
OMIM:256810 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Abn... |
ORPHA:2308 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Long philtrum |
OMIM:123700 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Trichothiodystrophy |
|
Ventricular septal defect, Carious teeth, High, narrow palate, Cardiomyopathy, Enamel hypoplasia |
ORPHA:33364 |
Diets-Jongmans Syndrome |
|
Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Duodenal atresia |
OMIM:618846 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cleft palate, Cardiomegaly |
ORPHA:137675 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Thick vermilion border, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intest... |
ORPHA:436252 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Thick vermilion border, Chylothorax, Long philtrum, Atrial septal defect, Pleural ... |
ORPHA:2526 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... |
ORPHA:513456 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Ventricular septal defect |
OMIM:619418 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Volvulus |
OMIM:616682 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, ... |
OMIM:619475 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, High palate, Long philtrum, Bifid uvula |
OMIM:620330 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Tetralogy of Fallot, Ventricular septal defect, Ankyloglossia |
OMIM:619525 |
Keutel Syndrome |
|
Deep philtrum, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Ventricular septal defect, Pyloric stenosis, Hypodontia, Anal atresia |
OMIM:181450 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary window |
OMIM:620025 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |