Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
PDS5 cohesin associated factor A
Synonyms:
E230024D05Rik,  9030416H16Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pds5a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pds5a by phenotypic similarity.

<
Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Renal agenesis, Stillbirth, Abnormal heart morphology, Abnor... ORPHA:294975
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart, Narr... OMIM:617661
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel... OMIM:214300
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Clef... OMIM:236110
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... ORPHA:3320
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Long philtrum, Renal agenesis, Branchial cyst, ... OMIM:615583
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma... ORPHA:1354
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... OMIM:118100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Fusion of midcervical facet joints, Widening of cervical spinal canal, Dyspnea, C... OMIM:606842
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Overlapping fingers, Open mouth, Ventricular septal defect, Atrial septal defect... OMIM:618494
Even-Plus Syndrome
Epiphyseal dysplasia, Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femo... OMIM:616854
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal hip bone morphology, Abnormali... ORPHA:2522
Syngnathia
Cleft palate OMIM:119550
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Pa... OMIM:620662
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Everted lower lip vermilion, High palate, Anterior open-bite malocclusion, Pierre-Robin sequence,... OMIM:617877
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Renal agenesis, Radioulnar synostosis, Hypodontia, Pulmonic steno... OMIM:212780
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Abnormality of the vertebral column, Cleft upper lip, Renal agenesis, ... OMIM:601076
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral ref... OMIM:617159
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, R... ORPHA:3268
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Mi... OMIM:220210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Butterfly vertebra... OMIM:619227
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Everted lower lip vermilion, At... OMIM:616898
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Delayed... OMIM:611555
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Hypoplastic aortic arch, ... OMIM:620511
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Delayed skeletal maturation, Thick lower lip vermilion... OMIM:612946
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Cardiomyopathy, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Thin upper ... OMIM:616549
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Absent radius, Anal... OMIM:607323
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Overlapping toe, Atrial s... ORPHA:363444
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Horses... OMIM:609053
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Crossed fu... OMIM:618142
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Burn-Mckeown Syndrome
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Cleft upper lip, Narrow mouth, Ventricu... OMIM:608572
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Truncus arteriosus, Ventricular septal... OMIM:601355
Mosaic Trisomy 20
Craniofacial asymmetry, Narrow chest, Cleft lip, Clinodactyly, Spinal canal stenosis, Horseshoe k... ORPHA:1724
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... ORPHA:1436
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Bicuspid aortic ... ORPHA:508498
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the g... OMIM:231060
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a... ORPHA:96170
Emanuel Syndrome
Aortic valve stenosis, Delayed eruption of primary teeth, Ventricular septal defect, Atrial septa... OMIM:609029
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Aganglionic m... ORPHA:85284
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Cleft lip, Delayed skeletal maturation, Joint hypermobility, Thin uppe... OMIM:619504
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Sh... ORPHA:3306
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Aortic root aneurysm, Shoulder dislocation, Knee dislocation, Mitral valve prolapse, ... OMIM:618000
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Cervical ribs, Urinary bladder... OMIM:601389
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Bell-shaped thorax, Short neck, Dextrocardia, Vertebra... OMIM:613686
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, 11 pairs of ribs, ... OMIM:264480
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Sandal gap, Everted upper lip vermilion... OMIM:619951
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Shashi-Pena Syndrome
Unilateral renal agenesis, Kyphosis, Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral f... OMIM:617190
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Neonatal death, Short neck... OMIM:108720
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Short middle phalanx of... OMIM:309620
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Narrow mouth, Patellar aplasia, Dysplastic patella, Arachnodactyly, Short ... OMIM:265000
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Chromosome 9P Deletion Syndrome
Narrow mouth, Ventricular septal defect, Short neck, Atrial septal defect, High palate, Hypospadi... OMIM:158170
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Downturned corners of mouth, Delayed skeletal ma... OMIM:616817
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Hypospadia... OMIM:618316
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper li... OMIM:616362
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Missing ribs, Short neck, Hemivertebrae, Pe... ORPHA:52047
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly, High palate, Scoliosis OMIM:617055
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Renal hypoplasia, Absence of the sacrum, Hypoplastic left hea... OMIM:617660
Marden-Walker Syndrome
High, narrow palate, Hypospadias, Renal hypoplasia, Joint contracture of the hand, Congenital con... OMIM:248700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Joint stiffness, Abnormal lowe... ORPHA:1166
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Atrial septal... ORPHA:2970
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... ORPHA:2919
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Kbg Syndrome
Widely-spaced maxillary central incisors, Finger clinodactyly, Cervical ribs, Long philtrum, Macr... ORPHA:2332
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Split-Hand/Foot Malformation 3
Renal hypoplasia, Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Renal hypoplasia/aplasia, Radioulnar synostosis, Sprengel anomal... ORPHA:1988
Poland Syndrome
Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/a... ORPHA:2911
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... ORPHA:166272
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Cervic... ORPHA:1780
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Non-midline cleft of the upper l... ORPHA:2476
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Single ventricle, 2-5 finger syndactyly, Absent toe, Syn... OMIM:308050
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Short neck, Orofacial cleft, Perimembranous ven... OMIM:618804
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Joint hypermobility, Taurodontia, Perimembranous ventricular septal defect, ... OMIM:618205
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short neck, Short p... OMIM:269860
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Pectus carinatum, Renal hypoplasia, Toe syndactyly, Renal agenesis, Long philtrum, Bowing of the ... ORPHA:171839
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Hand polydactyly, Unilateral renal agenesis OMIM:235740
Keratoconus Posticus Circumscriptus
Cleft upper lip, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extensi... OMIM:244600
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... OMIM:619751
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Ventricular septal defect, Neonatal deat... OMIM:146510
Lamb-Shaffer Syndrome
Optic atrophy, Thick vermilion border, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thorac... ORPHA:530983
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu... OMIM:613680
Frontometaphyseal Dysplasia 2
Broad thumb, Hip contracture, Bicuspid aortic valve, High palate, Dislocated radial head, Short m... OMIM:617137
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, E... OMIM:135100
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Chops Syndrome
High, narrow palate, Optic atrophy, Downturned corners of mouth, Long philtrum, Tracheomalacia, H... OMIM:616368
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Protruding tongue, Ventricular septal defect, Hypospadias, Widely-spaced maxillary ... OMIM:301040
Takenouchi-Kosaki Syndrome
Clinodactyly, Overlapping toe, Hypospadias, Patent ductus arteriosus, Downturned corners of mouth... OMIM:616737
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Torus palatinus, Generalized ost... ORPHA:2790
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Short neck, Beaking of vertebral bodies, Sprengel anomaly, Atrial septal defect,... OMIM:213980
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, 2-3 toe syndactyly, Renal cyst, Short neck, ... OMIM:236500
Cerebrocostomandibular Syndrome
Carious teeth, Cleft soft palate, Bell-shaped thorax, Ventricular septal defect, Short hard palat... OMIM:117650
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cleft upper lip, Micropenis, Finger joint hypermobility, Pectus excava... OMIM:244200
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Arthritis, Abnormal cardiac se... ORPHA:1937
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Ventricular septal d... OMIM:154400
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory distress, Abnormal motor nerve conduction velocity, Pectus e... OMIM:614399
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Scoliosi... OMIM:300934
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Optic atrop... OMIM:614576
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Death in infancy, Neonatal death, Short neck, Perimemb... OMIM:608104
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage,... OMIM:612852
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Ventricular septal defect, Barre... OMIM:178110
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular s... ORPHA:2256
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Brachydactyly... OMIM:616589
Diaphanospondylodysostosis
Nephrogenic rest, Bell-shaped thorax, Decreased skull ossification, Short neck, Lumbosacral menin... OMIM:608022
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Dyspnea, Cleft palate ORPHA:141152
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Os... ORPHA:371428
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microglossia, Abnormality of the ankle, Oligo... ORPHA:1307
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Narrow chest, Short iliac bones, Thoracic dysplasia, Acetabular spurs, Stage 5 ... OMIM:614376
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Ventricular septal defect ORPHA:3434
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Atrial septal defect, Tarsal synostosis, Short foot... OMIM:157800
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal... ORPHA:93267
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Abnormal heart morpho... ORPHA:1143
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Hypoplastic heart, Increased suscept... OMIM:312150
White Forelock With Malformations
Atrial septal defect OMIM:277740
Melnick-Needles Syndrome
Tooth malposition, Delayed cranial suture closure, Bowing of the long bones, Hip dislocation, Con... ORPHA:2484
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Polyda... OMIM:615993
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Patent ductus a... OMIM:616300
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, Anteriorly placed anus, ... ORPHA:2319
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret... OMIM:143400
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal sternum morphology, Small epiphys... ORPHA:166016
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Downturned corners of mouth, Long philtrum, Narrow mouth, Joint hypermobility, Cervical C2/C3 ver... OMIM:617333
Diamond-Blackfan Anemia 11
Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Bilateral cle... OMIM:614900
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... ORPHA:582
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ventricul... OMIM:610832
Zttk Syndrome
Small hand, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Short foo... OMIM:617140
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Respiratory distress, Gingival overgrowth, Median cleft palate, S... ORPHA:1832
Cornelia De Lange Syndrome 1
Ventricular septal defect, Short neck, High palate, Dislocated radial head, Hypospadias, Ectopic ... OMIM:122470
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,... ORPHA:2759
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Intestinal malrotation, Abnormal heart morphology, Limited elbow exte... ORPHA:401935
Mosaic Trisomy 14
Hypospadias, Narrow chest, Camptodactyly of finger, Short neck, Ectopic anus, Abnormal rib morpho... ORPHA:1703
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... ORPHA:7
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Mucopolysaccharidosis, Type X
Platyspondyly, Aortic valve stenosis, Broad clavicles, Long philtrum, Irregular acetabular roof, ... OMIM:619698
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... ORPHA:2578
Koolen-De Vries Syndrome
Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, Hip dislocation,... ORPHA:96169
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal ... ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Downturned corners of mouth, Lumbar hyperlordosis, Open mouth, Lumbar scoliosis... OMIM:617796
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Optic atrophy, Pectus carinatum, Exaggerated median tongue furrow, Dental crowding... ORPHA:313892
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Ventricular septal defect ORPHA:3469
Leopard Syndrome 1
Unilateral renal agenesis, Pectus carinatum, Hypertrophic cardiomyopathy, Complete atrioventricul... OMIM:151100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Ventricular septal defect, Increased overbite OMIM:618504
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Downtur... ORPHA:3015
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Osteopenia, Narrow chest, Metaphyseal spurs,... OMIM:618188
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, L... ORPHA:2311
Wildervanck Syndrome
Short neck, Pseudopapilledema, Facial palsy, Fused cervical vertebrae ORPHA:3456
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Narrow mouth, Long thorax, Hydronephrosis, S... ORPHA:1745
Spondyloepiphyseal Dysplasia Congenita
Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel... OMIM:183900
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Branchiootorenal Syndrome 1
Bifid uvula, Congenital hip dislocation, Unilateral renal agenesis, Renal malrotation, Abnormal r... OMIM:113650
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Narrow mouth, Thick vermilion border OMIM:617564
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o... ORPHA:93316
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, E... ORPHA:261120
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnorma... ORPHA:3027
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Duplicated collecting... OMIM:301056
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, Hyperlordosi... ORPHA:1797
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Decreased nerve conduction velocity, Patent... ORPHA:477817
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Open mouth, Ventricular septal defect, Bicuspid ao... OMIM:620654
Uvula, Bifid
Bifid uvula OMIM:192100
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Irregular dentition, Radial head subluxation, Anal atr... OMIM:601390
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc... ORPHA:90650
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Short hallux, Abnormality of the kidney, D... ORPHA:508488
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis OMIM:614262
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Long philtrum, Ventricular septal defect, Pulmonary artery stenosis, Everted lo... ORPHA:75389
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Nager Syndrome
Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, ... ORPHA:245
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Pulmonic stenosis, Atrial septal defect, Submucous cleft hard palate OMIM:619239
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Ankle pain, Wrist hypermobility, Periart... OMIM:601492
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Increased susceptibility to fractu... OMIM:253290
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Renal hypoplasia, Pectus carinatum, Abnormal clavicle morphology,... ORPHA:3138
Lessel-Kubisch Syndrome
Renal hypoplasia, Narrow mouth, Renal insufficiency OMIM:618681
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopenia,... OMIM:613848
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Atrial septal defect, Fin... OMIM:618870
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Abnormal palate m... ORPHA:2475
Koolen-De Vries Syndrome
Aortic root aneurysm, Open mouth, Ventricular septal defect, Bicuspid aortic valve, Everted lower... OMIM:610443
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Optic ... ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Overlapping fingers, Narrow mouth, Protruding tongue, Death in inf... OMIM:608779
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Vesicoureteral reflux,... ORPHA:464288
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Short philtrum, Cleft palate ORPHA:94066
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Anterior concavity of thoracic vertebrae, Mitral valve prolapse, ... OMIM:249420
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Short lingual frenulum, Ventricular septal defect, Abnormal optic disc mor... ORPHA:96121
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Ventricular septal defect, Atrial s... OMIM:620663
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... ORPHA:628
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... ORPHA:95699
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Optic atrophy, Dental malocclusion, Delayed eruption of teeth, Spinal ... OMIM:101800
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria,... OMIM:604273
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Pyloric stenosis, Coronal craniosynostosis, Respiratory distress, Overlapping toe, Con... ORPHA:83617
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short neck, Atrial septal defect, Hip dislocation, Short toe, Cervical... OMIM:613458
Diamond-Blackfan Anemia 1
Delayed cranial suture closure, Ventricular septal defect, Short neck, Atrial septal defect, High... OMIM:105650
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Joint subluxation, Vesicoureteral reflux, Quadricuspid aortic valve, M... OMIM:606408
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Hand polydac... ORPHA:261243
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Jeune Syndrome
Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ... ORPHA:474
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental e... ORPHA:2916
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Cleft upper lip, Tetralogy of Fallot, Mitral valve prolapse... OMIM:612561
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Narrow chest, Proximal femoral epiphysiolysis, Delayed ske... OMIM:260400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Clinodactyly, Overlapping toe, Hypospadias, Patent ductus arteriosus, Downturned corners of mouth... ORPHA:487796
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Cleft Soft Palate
Cleft soft palate OMIM:119570
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Dilated cardiomyopathy, Nocturnal hypoventilation, Exercise-induced myoglobinuria, ... OMIM:607155
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Hip contracture, Mitral valve prolapse, Arachnodactyly, Bowing of the long ... OMIM:121050
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Diastema, Hydronephrosis, High palate, Short philtrum, Patent ductus a... OMIM:609757
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Small hand, Finger syndactyly, Delayed eruption of... ORPHA:915
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Osteopenia, Delayed cranial suture closure, Os odontoideum, Tortuous c... OMIM:616603
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture, Short t... ORPHA:464311
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Hip contracture, Short neck, Hydroureter, Submucous cleft hard palate, Knee flexion ... OMIM:619194
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Short neck, Atrial septal defect, Nephrotic syndrome, Renal tubular atrophy, ... OMIM:617303
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Kinsship Syndrome
Ankyloglossia, Short neck, Dislocated radial head, Hip dislocation, Osteopenia, Downturned corner... OMIM:619297
Pentalogy Of Cantrell
Hypospadias, Aplasia/Hypoplasia of the radius, Renal agenesis, Renal dysplasia, Abnormal sternum ... ORPHA:1335
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality ... ORPHA:2616
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the dentition, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormality of t... ORPHA:276422
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short foot, Patent ductus arteriosus, Cleft lip, Microphallus, Optic d... OMIM:618454
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Patent ductus arter... ORPHA:2712
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, High palate, Rocker ... OMIM:618393
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Short neck, Thoracolumbar scoliosis, High palate, S... OMIM:114300
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Atrial septal defect, Cleft palate ORPHA:93946
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Narrow chest, Knee flexion contracture, Ventricular septal defect, Hyd... OMIM:620454
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Ventricular septal defect, Decreased skull ossification, Short neck, ... OMIM:616897
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Right aortic arch with mirror image branching, Horsesh... OMIM:601186
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Irregular dentition, High palate, Hypospadias, Osteope... OMIM:615546
Stickler Syndrome, Type I
Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, J... OMIM:108300
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp... ORPHA:1445
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Thin upper lip vermilion, Smooth philtrum, Short neck, Micropenis OMIM:620439
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia, Atrial septal defect OMIM:614526
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Renal agenesis, Joint stiffness, Abnormal ao... ORPHA:2516
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Clinodactyly, IgA deposition in the glomerulus, Ventricular se... OMIM:618348
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Limit... ORPHA:93351
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Narrow mouth, Mitral valve p... OMIM:180849
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Optic disc pall... ORPHA:464306
Andersen-Tawil Syndrome
Abnormality of the dentition, Small hand, Renal hypoplasia, Dental crowding, Dilated cardiomyopat... ORPHA:37553
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Beaking of vertebra... OMIM:150250
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Interrupted aortic arch, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, 2-3 toe syndactyly, Thin upper lip vermilion, Overriding a... ORPHA:3304
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Short toe, Abnormal palate morphology, Radioulnar syno... ORPHA:921
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Microphthalmia, Syndromic 12
Intestinal malrotation, Ventricular septal defect, Cleft palate, Hypoplastic left atrium OMIM:615524
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Long philtrum, Lateral clavicle hook, Respir... OMIM:617895
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Sclerosis of skull base, Biconcave vertebral bodies, Ventricular ... OMIM:130720
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the femoral head, Mit... ORPHA:536467
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Long philtrum, Camptodactyly of fin... ORPHA:261337
Moebius Syndrome
Bifid uvula, Abnormal pelvic girdle bone morphology, Abnormality of the dentition, Clinodactyly, ... OMIM:157900
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Cleft soft palate, Ventricular septal defect, Arachnodactyly, Eosinophilic ... OMIM:615582
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone oss... ORPHA:99646
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... ORPHA:2876
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Death in childhood... OMIM:614922
Marden-Walker Syndrome
Multicystic kidney dysplasia, Narrow mouth, Renal hypoplasia/aplasia, Arachnodactyly, Radioulnar ... ORPHA:2461
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fi... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Respiratory distress, Death in infancy, Thin upper lip ver... OMIM:615042
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, J... OMIM:619184
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Talipes valgus, Decreased nerve conduction veloc... OMIM:616652
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Death in childhood, Hip ... OMIM:210710
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... ORPHA:2347
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Congenital Gerbode Defect
Bacterial endocarditis, Ankle swelling, Ventricular septal defect, Constrictive pericarditis, Per... ORPHA:99095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Secundum atrial septal defect, Oligodactyly, Median pseudocleft lip, Absence of... OMIM:619758
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... ORPHA:1507
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, Ventricul... OMIM:609654
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoureteral reflux, 2-3 finger synd... OMIM:603467
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Narrow chest, Short thorax, Joint stiffness, Joint hype... ORPHA:2655
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... OMIM:184250
Renpenning Syndrome 1
Joint contracture of the hand, Narrow mouth, Death in childhood, Ventricular septal defect, Atria... OMIM:309500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Pectus carinatum, Long philtrum, Delayed cranial suture closure, Respiratory distr... OMIM:619383
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ... OMIM:259440
Ogden Syndrome
Everted upper lip vermilion, Delayed cranial suture closure, Thick upper lip vermilion, Ventricul... OMIM:300855
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Atrial septal defec... OMIM:225500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Neonatal death, Short neck, Anal atresia, Cleft lip, Hamartoma of tongu... OMIM:617925
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Short thumb, Prominent fingertip pads, Long philtrum, Stage 1 chronic kidney di... OMIM:618821
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth,... OMIM:253010
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Narrow mouth, Submucous clef... ORPHA:3426
12Q14 Microdeletion Syndrome
Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Horseshoe kidney, Hypodont... ORPHA:94063
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Vesicoureteral reflux, Abnormal cranial nerve morphology, Ventricula... ORPHA:228399
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ... OMIM:609616
Apert Syndrome
Bifid uvula, Optic atrophy, Toe syndactyly, Broad thumb, Finger syndactyly, Delayed eruption of t... ORPHA:87
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Ventricular septal def... ORPHA:2519
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardi... ORPHA:254913
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Renal hypoplasia/aplasia, Vertebral segmentation... ORPHA:1926
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp... ORPHA:959
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Arnold-Chiari Malformation Type I
Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Cervical C2/C3... ORPHA:268882
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Dextrocardia, U... OMIM:173800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Ventricular septal defect, High ... ORPHA:444077
Lujan-Fryns Syndrome
Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Joint hypermobility, Arac... ORPHA:776
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Peripheral ... OMIM:118450
Congenital Myopathy 17
Renal hypoplasia, Narrow chest, Dental malocclusion, Clinodactyly, Long philtrum, Overlapping toe... OMIM:618975
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irr... OMIM:602271
Robinow Syndrome
Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in eruption of perma... ORPHA:97360
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormal epiphysis morphology, Joint dislocation, Abnormal diaphysis morphology, Hy... ORPHA:1842
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Thoracic hemivertebrae, Butterfly vertebrae, Median cleft palate, Submuco... OMIM:301043
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Renal dysplasia, Respirator... OMIM:300968
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Tented upper lip vermilion, Vesicoureteral reflux, Patent foramen... OMIM:618460
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Respiratory distress, Glandular hypospadias, Penile hypospadias, Death in infancy, Joi... OMIM:300219
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hypoplasia of penis,... ORPHA:887
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Postaxial polydactyly... OMIM:614815
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Flexion contracture, Accessory oral frenulum, Patent fo... ORPHA:88630
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion border, Pulmonic s... ORPHA:251076
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, Long thumb, Ventricular septal defect, Everted lower lip vermilion, Atrial septal def... OMIM:220500
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Dup... OMIM:270400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Pulmo... OMIM:618223
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ventricular septal defect, Joint hypermob... ORPHA:3375
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Axial Mesodermal Dysplasia Spectrum
Abnormal localization of kidney, Abnormal pelvic girdle bone morphology, Abnormality of the urina... ORPHA:1834
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Short 5th finger, Tessier cleft, Abnormality of the vertebral colu... OMIM:239800
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atri... ORPHA:261272
Cerebrofacioarticular Syndrome
Osteopenia, Anal stenosis, Renal hypoplasia, Caudal appendage, Tracheomalacia, Anteriorly placed ... ORPHA:314679
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tars... OMIM:269250
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Optic nerve hypoplasia, Stippled calcificatio... OMIM:222765
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca... OMIM:619142
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Vertebral wedging, Poly... OMIM:109400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... OMIM:271640
Tetrasomy 15Q26
Horseshoe kidney, Hypoplastic aortic arch, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Atrial... OMIM:614846
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Narrow chest, Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Res... OMIM:217980
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Intraventricular he... ORPHA:79284
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Optic disc coloboma, Vesicoureteral reflux, Renal... ORPHA:1475
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnorma... ORPHA:52
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Ante... OMIM:616258
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Unilateral renal hypoplasia, Vesicoureteral reflux, Microdontia... OMIM:619955
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Oligodontia, Thin upper lip vermilion, Brachydactyl... OMIM:616331
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Delayed eruption o... OMIM:119600
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Accelera... ORPHA:1423
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Alkaptonuria
Aortic valve calcification, Elevated urinary homogentisic acid, Limited hip movement, Decreased g... OMIM:203500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth philtrum, Atrial s... ORPHA:261190
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, High palate, Ketonuria OMIM:619053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Th... OMIM:613091
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... OMIM:263520
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Cardiomyopathy, Respiratory distress, Increased level of methylsuccinic acid in ur... ORPHA:26792
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal ... ORPHA:261197
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Cat-Eye Syndrome
Abnormal rib morphology, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Hip dysplasia, A... ORPHA:195
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Joubert Syndrome 22
2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Atrial septal defect, Bilateral renal dysplasia, Absent thumb, Downturned corners... ORPHA:500150
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Short neck, Ovoid thoracolumba... ORPHA:3404
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Short neck, Atrial septal defect, High palat... OMIM:612474
Diamond-Blackfan Anemia 7
Osteopenia, Secundum atrial septal defect, Short thumb, Horseshoe kidney, Tetralogy of Fallot, Es... OMIM:612562
Tyshchenko Syndrome
High, narrow palate, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, High pal... OMIM:615102
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect, Decreased calvarial ossification, Joint hyperm... ORPHA:2772
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Optic nerve hypoplasia, Broad hallux, Open mouth, Joint hypermobility,... ORPHA:457284
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect OMIM:614954
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, 11 pairs of ribs, Ventricular septal defect, Pectus ... OMIM:618624
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence OMIM:620183
Li-Campeau Syndrome
Long philtrum, Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:619189
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Death in early adulthood, Mitral val... ORPHA:904
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Aortic valve stenosis, High iliac wing, Coarse metaphyseal trab... ORPHA:2780
Halperin-Birk Syndrome
Optic atrophy, Death in childhood, Perimembranous ventricular septal defect, Thick vermilion bord... OMIM:618651
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Ventricular septal d... ORPHA:99776
Seizures-Scoliosis-Macrocephaly Syndrome
Long philtrum, Overlapping toe, Reduced bone mineral density, Atrial septal defect, Abnormality o... ORPHA:466926
Coffin-Siris Syndrome 6
High, narrow palate, Clinodactyly, Kyphoscoliosis, Wormian bones, Deep philtrum, Brachydactyly, A... OMIM:617808
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Pectus carinatum, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Tetralogy ... OMIM:614701
Coffin-Siris Syndrome 1
Aplasia/Hypoplasia of the patella, Ventricular septal defect, Atrial septal defect, High palate, ... OMIM:135900
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Dysosteosclerosis
Natal tooth, Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, ... OMIM:224300
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Abnormal heart morphology, Tetralogy of Fall... ORPHA:2209
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone miner... ORPHA:1488
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Narrow mouth, Short neck, High palate, Short foot, Hypospa... OMIM:611209
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Thin upper lip vermilion, Oligodontia, Atrial septal defect, Pectus ex... OMIM:618330
Campomelia, Cumming Type
Clubbing of toes, Multicystic kidney dysplasia, Abnormal thorax morphology, Death in infancy, Bow... ORPHA:1318
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Optic ... OMIM:120330
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Atrial septal defect, Rectoperineal f... ORPHA:857
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, At... OMIM:620024
Tarp Syndrome
Optic atrophy, Meckel diverticulum, Clinodactyly, Subdural hemorrhage, Horseshoe kidney, Tetralog... OMIM:311900
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Delayed skeletal... ORPHA:2326
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Optic disc coloboma, Hamartoma of tongue, An... OMIM:174300
Thanatophoric Dysplasia Type 2
Platyspondyly, Narrow chest, Limitation of joint mobility, Short thorax, Joint hypermobility, Pat... ORPHA:93274
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Meier-Gorlin Syndrome 7
Narrow mouth, Aplasia/Hypoplasia of the patella, Urethral stricture, Ventricular septal defect, A... OMIM:617063
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal sternum morphology, Horseshoe kidney, Abnormal heart mor... ORPHA:314588
Generalized Arterial Calcification Of Infancy