Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear receptor binding SET domain protein 2
Synonyms:
5830445G22Rik,  Whsc1l,  9430010A17Rik,  D030027O06Rik,  C130020C13Rik,  D930023B08Rik,  Whsc1

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 Nsd2 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.

The table below shows human diseases associated to Nsd2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Downturned corners of mouth, Split hand, Short thumb, Osteoporosis, ... ORPHA:280

The table below shows human diseases predicted to be associated to Nsd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of the dentition, Short... ORPHA:1858
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Abnormal mitral va... ORPHA:1354
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Abnormal heart morphology, Polydactyly, Syndactyly, Abnormal h... ORPHA:294975
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality of epiphysi... ORPHA:1388
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Growth delay, Atrial septal defect, Short stature, Abnormal heart morphology OMIM:617744
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... OMIM:614669
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Micrognathia, Syndactyly, Retrognathia, Increased over... OMIM:613684
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... OMIM:617877
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Short stature, Intrauterine growth retardatio... ORPHA:1937
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short finger, Metaphyseal cuppin... OMIM:608940
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Radial de... OMIM:248950
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Dislocated radial head, Camptodactyly of finger, Delayed eruption of te... OMIM:612350
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate OMIM:261800
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Dental crowding, Growth delay, Hypoplastic frontal sinuse... OMIM:253250
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Sonoda Syndrome
Narrow mouth, Short stature, Ventricular septal defect OMIM:270460
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Disproportionate short stature, Metaphyseal chondrodysplasia, Abnor... ORPHA:2501
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Ventricular septal defect OMIM:253300
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short distal phalanx of finger OMIM:155050
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Dental crowding, Abnormality of the dentition, Short distal phalanx o... OMIM:616331
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Microdontia, Widely spaced teeth, Postnatal growth retardation OMIM:233810
Auriculocondylar Syndrome 1
Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open... OMIM:602483
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Mandibular prognathia, Natal tooth, Thick verm... OMIM:601957
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Clinodac... OMIM:618804
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Ventricular septal defect OMIM:615297
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, Short stature... OMIM:616202
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Overlapping toe, Abnormal heart morphology, Camptodactyly, S... ORPHA:363444
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Death in infancy, Short stature, Cleft palate, Arachnodactyly ORPHA:93946
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Growth delay, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Sho... ORPHA:52056
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Atrial septal defect, Short metatarsal, Short stature OMIM:113301
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Short stature, Dent... ORPHA:2471
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High palate, Broad ... OMIM:305620
Alpha-Mannosidosis
Hip dysplasia, Open bite, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperos... ORPHA:61
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Overlapping toe, Ventricular septal def... OMIM:614262
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Cutaneous syndactyly, Ventricular septal defect, 2-3 toe synda... OMIM:600987
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Intrauterine growth retardation, Sandal gap, Short stature, Dilated ca... ORPHA:2515
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect OMIM:277740
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Abnormal heart morphology, Cleft palate, Intrauterin... OMIM:600252
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Muenke Syndrome
Broad thumb, Short middle phalanx of finger, High palate, Capitate-hamate fusion, Thimble-shaped ... OMIM:602849
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short metac... OMIM:264475
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Toe syndactyly, Narrow mouth, Downturned corners of mouth, Ma... ORPHA:1327
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Mandibular prognathia, Wide mouth, Thin upper lip vermilion,... OMIM:249630
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Ivory epiphyses of the distal phalanges of the ha... OMIM:190350
Oculodentodigital Dysplasia, Autosomal Recessive
4-5 finger syndactyly, Thin vermilion border, Abnormal dental enamel morphology, Long philtrum, N... OMIM:257850
Seckel Syndrome 1
Enamel hypoplasia, Proportionate short stature, Dental crowding, Postnatal growth retardation, Sa... OMIM:210600
Three M Syndrome 2
Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Thick vermilion border, Severe sho... OMIM:612921
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Thick lower lip vermilion, Widel... OMIM:608227
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Mandibular prognathia, Abnormal cardiac septum morph... ORPHA:3079
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Malar flattening, Short stature, Dental malocclusion, Micrognathia, Brachydactyly ORPHA:436245
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Coronal craniosynostosis OMIM:241310
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Potocki-Lupski Syndrome
Atrial septal defect, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Short ... OMIM:610883
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Mmep Syndrome
Ventricular septal defect, Oral cleft, Split foot, Triphalangeal thumb, Median cleft lip ORPHA:3434
Kabuki Syndrome 2
Atrial septal defect, Joint laxity, Atrioventricular canal defect, Micrognathia, Natal tooth, Den... OMIM:300867
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... ORPHA:1209
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Pulmonic stenosis, Perimembranous ventricular septal... OMIM:611376
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Lessel-Kreienkamp Syndrome
Atrial septal defect, Open mouth, Thin upper lip vermilion, Pulmonic stenosis, Bicuspid aortic va... OMIM:619149
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Short to... OMIM:613458
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Gr... OMIM:612561
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Postnatal growth retardation, Thick... OMIM:309545
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
16P13.11 Microduplication Syndrome
Craniosynostosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Joint hyperf... ORPHA:261243
Hamamy Syndrome
Hip dysplasia, Long philtrum, Craniosynostosis, Atrial septal defect, Down-sloping shoulders, Hig... OMIM:611174
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Filippi Syndrome
Thin vermilion border, Short philtrum, Cutaneous syndactyly, Abnormality of dental morphology, Ve... OMIM:272440
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Joint laxity, Ve... ORPHA:401935
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Short finger, Dental malocclusion, Abn... ORPHA:2980
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Short stature, Dental... OMIM:603463
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increased susceptibilit... ORPHA:251028
Mucolipidosis Type Iii
Large iliac wing, Abnormal heart valve morphology, Hypoplastic inferior ilia, Craniofacial hypero... ORPHA:577
Coffin-Siris Syndrome 5
Short philtrum, Atrial septal defect, Wide mouth, Sandal gap, Thin upper lip vermilion, Short dis... OMIM:616938
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Ventricular septal defect, Growth delay, Postnatal growth retardation, Radial devia... OMIM:301040
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short stature, Short metacarpal, Brachy... OMIM:613382
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Abnormal heart morphology, Acromicria, Postnatal growth retardation,... ORPHA:254525
Abruzzo-Erickson Syndrome
Short toe, Atrial septal defect, Toe syndactyly, Radioulnar synostosis, Abnormal palate morpholog... ORPHA:921
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Joint hypermobility, Oligodontia, Atrial septal defect, Dental crowding, Pierr... OMIM:619184
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Dextrocardia, Intrauterine growth retardation, T... OMIM:270100
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Thick vermilion border, Perimembranous ventricular septal defect, Death in c... OMIM:618651
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Anal atresia, U-Shaped ... OMIM:612946
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Atrial septal defect, Stillbirth, Ventricular septal defect, Duplicati... OMIM:263630
Larsen-Like Syndrome
Joint laxity, Radial deviation of the 4th finger, Short stature, Cleft palate, Dental malocclusio... OMIM:608545
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodontia, Short sternum,... ORPHA:2563
Tyshchenko Syndrome
Atrial septal defect, Narrow palate, Ventricular septal defect, Pulmonic stenosis, Short stature,... OMIM:615102
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... OMIM:619110
Craniofaciofrontodigital Syndrome
Joint hypermobility, Long philtrum, Broad ribs, Hypoplastic pelvis, Abnormal heart morphology, Ab... OMIM:114620
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Postnatal growth retardation, Slender finger, Long toe, Bicuspid aortic val... OMIM:613355
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Fanconi Anemia, Complementation Group S
Narrow palate, Macrodontia, Thick upper lip vermilion, Clinodactyly, Short stature, Dental malocc... OMIM:617883
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Growth delay, Campt... OMIM:179613
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Proportionate short stature, Ventricular septal defect OMIM:617044
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Sandal gap, Short stature, Tetralog... OMIM:300887
Oliver Syndrome
Camptodactyly of finger, Short philtrum, Postaxial hand polydactyly, Mandibular prognathia, Denta... ORPHA:2920
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Reduced bone mine... OMIM:615279
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Smooth philtrum, Thin upper lip vermilion, Short stature, Cleft palate, Intra... OMIM:611867
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Delayed eruption of teeth, Epiphyseal stippling, Short metatarsal, Short ... OMIM:101800
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Enlarged epiphyses, Radial ... OMIM:269880
Frank-Ter Haar Syndrome
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Corti... OMIM:249420
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Atrial septal defect, Joint hyperflexibility, Sandal gap, Short stature, High palate... ORPHA:1035
Ritscher-Schinzel Syndrome 2
Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal defect, Growth delay, C... OMIM:300963
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Smooth philtrum, ... ORPHA:261190
Li-Campeau Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Patellar hypoplasia, Short statur... OMIM:619189
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Ventricular septal def... OMIM:608572
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Joint hypermobility, Atrial septal defect, Congenital hip dislocation, Mild short stature, Joint ... OMIM:601450
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Ectopic anus,... ORPHA:2476
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Joint hyperflexibility, Abnormal palate morphology, Deep... ORPHA:2475
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Persistence of primary teeth, Sandal gap, Mal... OMIM:618727
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Downturned corners of mouth, Thin upper lip vermilion, Clinod... ORPHA:521308
Harrod Syndrome
Narrow mouth, Joint hyperflexibility, High palate, Intrauterine growth retardation, Abnormal shou... ORPHA:2115
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Pulmonic stenosis, Gen... OMIM:613312
Blepharophimosis-Impaired Intellectual Development Syndrome
Hip dysplasia, Enamel hypoplasia, Short philtrum, Joint laxity, Drooling, Flexion contracture, Wi... OMIM:619293
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Postnatal growth retardation, Multiple suture craniosynostosis, Short ... ORPHA:3369
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Oligodontia, Short philtrum, Downturned corners of m... ORPHA:217017
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Genu valgum, Atrial septal defect, Disproportionate short-limb short s... OMIM:225500
Noonan Syndrome 11
Atrial septal defect, Thick vermilion border, Pulmonic stenosis, Short stature, Hypertrophic card... OMIM:618499
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Wide mouth, Slender l... OMIM:612731
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Growth delay, Wide mouth, Hypodontia, A... ORPHA:3473
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Non-midline cleft lip... ORPHA:2725
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
3C Syndrome
Intestinal malrotation, Death in infancy, Postnatal growth retardation, Oral cleft, High, narrow ... ORPHA:7
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Narrow mouth, Incisor macrodontia, Sh... OMIM:615502
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Mandibular prognathia, Malar flattening, Cortically dense long... OMIM:269500
Holt-Oram Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Ra... ORPHA:392
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Craniosynostosis, Dental crowding, Ventricular septal defect... OMIM:145420
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Posta... OMIM:618142
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Short sternum, Smooth philtrum, High palat... OMIM:157980
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Short distal phalanx of finger, Clinodactyly, Ri... OMIM:614261
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, High palate, Te... ORPHA:1913
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Delayed puberty, Hypoplasia of the zygomatic bone, Short stature, Supernumerary to... ORPHA:3145
Chromosome 4Q21 Deletion Syndrome
Short philtrum, Downturned corners of mouth, Postnatal growth retardation OMIM:613509
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Overlapping toe, Th... OMIM:618974
20P12.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Broad thumb, Narrow mouth, Broad hallux phalanx, Short stature ORPHA:261295
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Ventricular septal defect OMIM:613680
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... ORPHA:85321
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Robinow Syndrome
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Micrognathia, Long... ORPHA:97360
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93324
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Absent thumb, Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate OMIM:619239
Bardet-Biedl Syndrome 2
Postaxial hand polydactyly, Atrial septal defect, Bicuspid aortic valve, Postaxial foot polydacty... OMIM:615981
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Catel-Manzke Syndrome
Joint laxity, Ventricular septal defect, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperp... OMIM:616145
Myopathy, Myofibrillar, 8
Distal joint laxity, Joint hypermobility, Joint contracture of the 5th finger, Achilles tendon co... OMIM:617258
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Cleft palate, Tracheoesophageal fistula ORPHA:261272
Lujan-Fryns Syndrome
Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Joint hyperflexib... ORPHA:776
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hypermobility of interphalangeal joints, Long philtrum, Preaxial hand polydactyly, T... ORPHA:508498
Schneckenbecken Dysplasia
Anterior rib cupping, Advanced tarsal ossification, Metaphyseal irregularity, Stillbirth, Hypopla... OMIM:269250
Shashi-Pena Syndrome
Osteoporosis, Atrial septal defect OMIM:617190
Joubert Syndrome 18
Joint laxity, Ventricular septal defect, Polydactyly, Camptodactyly, Intrauterine growth retardation OMIM:614815
Cornelia De Lange Syndrome 2
Downturned corners of mouth, Smooth philtrum, Postnatal growth retardation, Thin upper lip vermil... OMIM:300590
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Abnorm... ORPHA:137888
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Camptodactyly, Natal tooth, High palate, Micrognathia, Sclerosis of skull base, ... OMIM:300373
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Posterior rib fusion, Preaxial hand polydactyly, Ventricular septal defect,... OMIM:608406
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Aplasia/Hypoplasia of the... ORPHA:94066
Van Maldergem Syndrome 2
Short 4th metacarpal, Joint laxity, Short fourth metatarsal, Downturned corners of mouth, Growth ... OMIM:615546
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Short stature, ... OMIM:608571
Insulin-Like Growth Factor I, Resistance To
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Smooth philtrum, In... OMIM:270450
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Agenesis of per... OMIM:616894
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Ventricular septal defect, Short stature, Sagittal craniosynostosis,... OMIM:314320
Al Kaissi Syndrome
Long philtrum, Atrial septal defect, Smooth philtrum, Postnatal growth retardation, Thin upper li... OMIM:617694
Van Maldergem Syndrome 1
Short 4th metacarpal, Joint laxity, Short fourth metatarsal, Downturned corners of mouth, Growth ... OMIM:601390
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ova... OMIM:228520
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Atrial septal defect, Arthrogryposis multiplex congenita, Narrow mouth, Abnormal ... ORPHA:352490
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Fetal Alcohol Syndrome
Atrial septal defect, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Joint sti... ORPHA:1915
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Thin ribs, Hyperostosis, Increased susceptibility to frac... OMIM:604922
Hallermann-Streiff Syndrome
Joint hypermobility, Thin vermilion border, Narrow palate, Narrow mouth, Proportionate short stat... OMIM:234100
Short Stature And Facioauriculothoracic Malformations
Proportionate short stature, Ventricular septal defect, Cervical ribs, Cleft upper lip, Cleft pal... OMIM:609654
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Ventricular sep... OMIM:618316
Progeria-Short Stature-Pigmented Nevi Syndrome
Fragile teeth, Short distal phalanx of finger, Hypodontia, Delayed puberty, Multiple joint contra... ORPHA:2959
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Hypoplasia of the ulna, Neonatal death, Syndactyly OMIM:228940
Turnpenny-Fry Syndrome
Narrow mouth, Dental crowding, Mandibular prognathia, Mitral valve prolapse, High palate, Thin up... OMIM:618371
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Flexion contracture, Death in infancy, Slender finger, Cle... OMIM:147800
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Joint hypermobility, Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defec... OMIM:617360
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Microretrognathia, Down-sloping shoulders, Clinodactyly, Dental malocclusion, Tape... OMIM:615560
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Absent vertebr... OMIM:200610
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Cleft palate ORPHA:1681
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Short stature, Dental malocclusion, Diaphyseal sclerosis OMIM:259730
Frontoocular Syndrome
Atrial septal defect, Narrow mouth, Pulmonic stenosis, Narrow philtrum, Coronal craniosynostosis,... OMIM:605321
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Thick vermilion border, Wide mouth, Pulmonic ste... OMIM:610733
Even-Plus Syndrome
Atrial septal defect, Severe short stature, Hypodontia, Anal atresia, Patent foramen ovale, High ... OMIM:616854
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, Deep philtrum, Dental malocclusion, Thin upper lip vermilion, High palate, Contract... ORPHA:329178
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Transpos... OMIM:231060
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Coffin-Siris Syndrome 6
Short philtrum, Atrial septal defect, Deep philtrum, Clinodactyly, Short stature, Cleft palate, H... OMIM:617808
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Rhizomelia, Smooth philtrum, Limited shoulder movement, Short thumb, Clinodactyly ... OMIM:618821
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Hypoplasia of teeth, Postnatal growth retardation, Cleft palate, Intrauteri... ORPHA:2728
Roifman Syndrome
Long philtrum, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular septal defe... OMIM:616651
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Atrial septal defect, Severe short-limb dwarfism, Mesomelic/rhizomelic limb... ORPHA:2347
Cardioacrofacial Dysplasia 2
Genu valgum, Short philtrum, Accessory oral frenulum, Postaxial hand polydactyly, Deep philtrum, ... OMIM:619143
Seizures-Scoliosis-Macrocephaly Syndrome
Long philtrum, Atrial septal defect, Reduced bone mineral density, Overlapping toe ORPHA:466926
Thanatophoric Dysplasia, Type Ii
Lethal short-limbed short stature, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costoc... OMIM:187601
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Evert... ORPHA:75389
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Preaxial hand polydactyly, Postaxial hand pol... OMIM:101200
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Short philtrum, Atrial septal defect, Broad thumb, Downturned corners of m... ORPHA:435638
Timothy Syndrome
Cutaneous syndactyly, Ventricular septal defect, Thin upper lip vermilion, Syndactyly, Cardiomega... OMIM:601005
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Bowing of the long b... OMIM:611134
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Abnormal thumb morphology, Severe short-limb dwarfism, Abnormality of epiph... ORPHA:1842
Cri-Du-Chat Syndrome
Short philtrum, Short metatarsal, Downturned corners of mouth, Microretrognathia, Growth delay, O... OMIM:123450
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Genu valgum, Dislocated radial head, Long philtrum, Joint laxi... OMIM:102500
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... OMIM:609029
Alazami Syndrome
Short philtrum, Atrial septal defect, Wide mouth, Thick vermilion border, Postnatal growth retard... ORPHA:319671
Meier-Gorlin Syndrome 7
Atrial septal defect, Craniosynostosis, Narrow mouth, Joint laxity, Ventricular septal defect, An... OMIM:617063
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Broad ribs, Dental crowding, Broad long bones, Mandibular prognathia,... OMIM:269300
Hypophosphatasia, Adult
Carious teeth, Rickets, Premature loss of permanent teeth, Recurrent fractures, Premature loss of... OMIM:146300
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint hypermobility, Genu valgum, Craniosynostosis, Dislocated radial head, Joint laxity, Narrow ... OMIM:182212
Suleiman-El-Hattab Syndrome
Long philtrum, Atrial septal defect, Drooling, Downturned corners of mouth, Ventricular septal de... OMIM:618950
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Broad thumb, Esophageal atresia, Smooth philtrum, Cleft soft palate, Brachy... OMIM:614526
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand p... ORPHA:1120
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Atrial septal defect, Joint hyperflexibility, Joint sti... ORPHA:2655
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Fused ... OMIM:214300
Cherubism
Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impacted teeth, Den... OMIM:118400
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Cariou... ORPHA:666
Takenouchi-Kosaki Syndrome
Long philtrum, Short philtrum, Overlapping toe, Downturned corners of mouth, Camptodactyly, Denta... OMIM:616737
Trisomy 13
Long philtrum, Abnormality of the ribs, Atrial septal defect, Postaxial hand polydactyly, Ventric... ORPHA:3378
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Truncus arteriosus, Ventricular septal defect OMIM:601355
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Ventricular septal defect, Severe short stature, Macrodontia of perma... ORPHA:444072
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Proportionate short stature, Camptodactyly, Down-slop... OMIM:227330
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, High palate, ... OMIM:201000
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Smooth philtrum, Ca... OMIM:618652
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Chromosome 15Q25 Deletion Syndrome
Growth delay, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Short stat... OMIM:614294
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Po... ORPHA:83617
Mckusick-Kaufman Syndrome
Atrial septal defect, Tarsal synostosis, Postaxial hand polydactyly, Ventricular septal defect, F... ORPHA:2473
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology OMIM:614954
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Atrial septal defect, Dental crowding, Ventricular septal defect, Finger clinodact... OMIM:617602
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Atrial situs ambiguous, Dextrocardia, Gerbode ventricular septal defect, Abnorm... ORPHA:216694
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, In... OMIM:244300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Ventricular septal defect ORPHA:49827
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Narrow mouth, Dental crowding, High palate, Camptodactyly, Patent foramen ovale, M... OMIM:615539
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Joint laxity, Open mouth, Thick upper lip vermilion, Wide mouth, Thick lowe... OMIM:611087
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Abnormality of the metaphysis, Short stature, In... ORPHA:290
Schwartz-Jampel Syndrome
Pursed lips, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplasm, Increased bo... ORPHA:800
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Triphalangeal thumb, Long philtrum, Atrial septal defect, Downturned corners of mouth, Open mouth... OMIM:220500
Cerebrocostomandibular Syndrome
Long philtrum, Atrial septal defect, Congenital hip dislocation, Anal stenosis, Ventricular septa... OMIM:117650
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Long philtrum, Overlapping toe, Mandibular prognathia, Smooth philtrum, Tent... OMIM:618975
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Long philtrum, Limited elbow extension, Atrial septal defect, Genu valgum, Joint laxity, Finger j... OMIM:618870
16P12.1P12.3 Triplication Syndrome
Long philtrum, Thin vermilion border, Atrial septal defect, Short 5th finger, Abnormal heart morp... ORPHA:485405
Contractural Arachnodactyly, Congenital
Limited elbow extension, Atrial septal defect, Mitral valve prolapse, Ventricular septal defect, ... OMIM:121050
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Harrod Syndrome
Narrow mouth, Dental malocclusion, High palate, High, narrow palate, Arachnodactyly OMIM:601095
17Q23.1Q23.2 Microdeletion Syndrome
Coxa magna, Atrial septal defect, Narrow mouth, Abnormality of epiphysis morphology, Congenital c... ORPHA:261279
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Long philtrum, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal defect, Dow... OMIM:617452
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Mitral stenosis, Short statu... OMIM:617660
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Metatarsus adductus, Patholog... OMIM:271640
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, Clinodactyly, Intrauterine growth reta... OMIM:613398
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Craniosynostosis, Joint laxity, Lambdoidal craniosynostosis, Open mouth, Downturned co... ORPHA:453504
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Atrial septal defect, Broad thumb, Joint laxity, Open mouth, Dental crowding, Ven... OMIM:309520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Craniosynostosis, Joint laxity, Lambdoidal craniosynostosis, Open mouth, Downturned co... ORPHA:352665
Diamond-Blackfan Anemia 7
Osteoporosis, Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Growth delay... OMIM:612562
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of carpal bones,... ORPHA:896
Cardiofaciocutaneous Syndrome 1
Open bite, Atrial septal defect, Open mouth, Micrognathia, Deep philtrum, High palate, Abnormalit... OMIM:115150
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Growth delay, Intrauter... OMIM:301030
Diamond-Blackfan Anemia 4
Growth delay, Atrial septal defect, Short stature OMIM:612527
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Short stature, Cardiomyo... OMIM:249270
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Tooth malposi... ORPHA:96170
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Long philtrum, Atrial septal defect, Broad thumb, Toe syndactyly, Overlapping toe, Ventricular se... ORPHA:505237
Holt-Oram Syndrome
Limited elbow extension, Hypoplasia of the radius, Ventricular septal defect, Finger clinodactyly... OMIM:142900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Craniosynostosis, Downturned corners of mouth, Ventricular septal defect, G... ORPHA:457193
Kniest-Like Dysplasia, Lethal
Lethal short-limbed short stature, Atrial septal defect, Narrow mouth, Metaphyseal irregularity, ... OMIM:245190
7Q11.23 Microduplication Syndrome
Joint hypermobility, Thin vermilion border, Craniosynostosis, Short philtrum, Drooling, Atrial se... ORPHA:96121
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costoc... OMIM:187600
Ellis Van Creveld Syndrome
Thin vermilion border, Short distal phalanx of finger, Dextrocardia, Genu valgum, Situs inversus ... ORPHA:289
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Atrial septal defect, Recurrent fractures, Reduced bone mineral density, Sho... OMIM:619115
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, ... ORPHA:89844
19P13.12 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Atrial septal defect, Craniosynostosis, Arthrogryposis mult... ORPHA:254346
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Buratti-Harel Syndrome
Atrial septal defect, Broad thumb, Broad hallux, Bifid uvula, High palate, Clinodactyly of the 5t... OMIM:619314
Camptodactyly Syndrome, Guadalajara, Type I
Short metatarsal, Narrow mouth, Downturned corners of mouth, Tubular metacarpal bones, High palat... OMIM:211910
Pentalogy Of Cantrell
Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Split hand, Abn... ORPHA:1335
Brachydactyly, Type B1
Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia of the... OMIM:113000
3Mc Syndrome 1
Atrial septal defect, Lambdoidal craniosynostosis, Radioulnar synostosis, Dental crowding, Ventri... OMIM:257920
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Wide mouth, Smooth phil... ORPHA:261236
Transaldolase Deficiency
Thin vermilion border, Atrial septal defect, Short philtrum, Ventricular septal defect, Deep phil... OMIM:606003
Phelan-Mcdermid Syndrome
Joint hypermobility, Long philtrum, Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, ... OMIM:606232
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Mental Retardation, Autosomal Recessive 65
Thin vermilion border, Atrial septal defect OMIM:618109
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Drooling, Open mouth, Joint laxity, Wide mouth, Tented upper lip vermilion ORPHA:500533
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Broad thumb, Downturned corners of mouth, Ventricular septal defect, Diaste... ORPHA:329224
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esopha... OMIM:610536
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Rectal prolapse, C... OMIM:235510
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Narrow palate, Broad ribs, Ventricular septal defect, Adducte... OMIM:617022
Megalencephaly
Genu valgum, Atrial septal defect ORPHA:2477
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Joint hypermobility, Craniosynostosis, Narrow mouth, Sandal gap, Shoulder dislocation, Metatarsus... OMIM:245600
Spondyloenchondrodysplasia
Delayed eruption of teeth, Hypoplastic ilia, Short distal phalanx of finger, Metaphyseal dysplasi... ORPHA:1855
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Atrial septal defect, Wide mouth OMIM:608688
Stevenson-Carey Syndrome
Hip dysplasia, Atrial septal defect, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequ... OMIM:611961
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Toe clinodactyly, Small epiphys... ORPHA:457395
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Long philtrum, Short philtrum, Overlapping toe, Downturned corners of mouth, Abnormal heart morph... ORPHA:487796
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... ORPHA:261183
Bohring-Opitz Syndrome
Dislocated radial head, Short toe, Atrial septal defect, Narrow palate, Overlapping toe, Ventricu... OMIM:605039
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Atrial septal defect, Osteolysis, Ventricular septal defect, Osteolysis involving b... ORPHA:371428
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Thin upper lip vermilion, Pulmonic... ORPHA:3304
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hip dysplasia, Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defec... OMIM:208085
Sotos Syndrome 1
Genu valgum, Atrial septal defect, Narrow palate, Joint laxity, Ventricular septal defect, High p... OMIM:117550
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Atrial septal defect, Abnormal mitral valve morphology, Short distal phalanx of to... ORPHA:1292
Localized Scleroderma
Sclerosis of finger phalanx, Abnormality of facial skeleton, Abnormal bone structure, Flexion con... ORPHA:90289
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Atrial septal defect, Joint laxity, Open mouth, Ventricular septal defect, Campto... OMIM:301039
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Atrial septal defect, Short stature, Cleft palate, Accessory oral fren... ORPHA:79113
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Growth delay, Foo... OMIM:206920
Microphthalmia, Syndromic 2
Oligodontia, Sandal gap, Dextrocardia, Contracture of the proximal interphalangeal joint of the 3... OMIM:300166
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Ventricular septal defect, Short 1st metacarpal, ... OMIM:609053
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Drooling, Downturned corners of mouth, Secundum atrial septal defe... OMIM:619121
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Joint laxity, Ventricular septal defect, A... ORPHA:477817
Hyperphosphatasia With Mental Retardation Syndrome 2
Shortening of all distal phalanges of the fingers, Atrial septal defect, Anal stenosis, Growth de... OMIM:614749
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndacty... OMIM:618162
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Long philtrum, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmona... OMIM:239711
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Poorly ossified vertebra... OMIM:619135
Nephrotic Syndrome, Type 11
Ventricular septal defect, Smooth philtrum, Partial duplication of thumb phalanx, Clinodactyly, C... OMIM:616730
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation, Short thumb OMIM:609054
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Downturned corners of mouth, Ventricular septal defect, Open mouth, Abnormal heart ... ORPHA:369891
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Camptodactyly, Sagittal craniosynostosis, Aortic valve stenosis, Small hand... ORPHA:459061
Contractures-Developmental Delay-Pierre Robin Syndrome
Hip dysplasia, Atrial septal defect, Abnormality of finger, Radioulnar synostosis, Overlapping to... ORPHA:436003
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Sandal gap, Short distal phalanx of finger, High, narrow palate, Truncus arteriosus... ORPHA:261330
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin vermilion border, Downturned corners of mouth, High palate, Long philtrum, Thin upper lip ve... OMIM:610759
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, Growth delay, Patent foramen ovale, High ... OMIM:613457
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Hip dysplasia, Atrial septal defect, Vent... OMIM:614576
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Downturned corners of mouth, Ventricular septal de... ORPHA:96167
Prune Belly Syndrome
Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Intestinal malrotati... ORPHA:2970
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Short philtrum, Atrial septal defect, Toe syndactyly, Joint laxity, Downturne... OMIM:601808
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Short thumb, Short stature, ... ORPHA:3449
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Flat acetabular roof, Short stature, Short clavi... OMIM:617159
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... OMIM:250220
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Narrow mouth, Abnormality of dental morp... OMIM:612582
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Split hand, Broad hallux phalanx, Death in i... ORPHA:1507
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... ORPHA:1505
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Everted lower lip vermilion, Wide mouth, Clinodactyly, Patent foramen o... OMIM:616789
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Intestinal malrotation,... ORPHA:210122
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Microretrognathia, High palate, Narrow iliac wing, Dentinogenesis im... OMIM:616294
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricular hypertrophy,... OMIM:615355
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal de... ORPHA:457279
Fg Syndrome Type 1
Craniosynostosis, Open mouth, Dental crowding, High palate, Mitral valve prolapse, Fused teeth, C... ORPHA:93932
Cockayne Syndrome B
Osteoporosis, Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Square pelvi... OMIM:133540
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Loeys-Dietz Syndrome 5
Hiatus hernia, Joint hypermobility, Atrial septal defect, Congenital finger flexion contractures,... OMIM:615582
Schuurs-Hoeijmakers Syndrome
Downturned corners of mouth, Diastema, Wide mouth, Smooth philtrum, Thin upper lip vermilion, Vol... OMIM:615009
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Mandibular prognathia, Postnatal growth ... OMIM:223800
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricular septal defect, Craniofa... ORPHA:1782
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum, Long philtrum, Hypoplasia of the radius, Ventricular hypertrophy, Hypoplasti... OMIM:602613
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Abnormality of fibular epiphyses, Rhizomelic arm shortening, Short... ORPHA:96190
Noonan Syndrome 13
Long philtrum, Limited elbow extension, Atrial septal defect, Joint laxity, Overlapping toe, High... OMIM:619087
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Dental crowding, Postnatal growth retardation... OMIM:615777
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Postaxial hand polydactyly, Agenesis of incisor, Bi... OMIM:610829
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Thick lower lip vermilion, Wide mouth, Short stature, Dental malocclusion, Micrognathia, Malar fl... OMIM:300519
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Long philtrum, Macroglossia, Atrial septal defect, Dental crowding, Deep philtrum, Camptodactyly,... ORPHA:397709
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Craniosynostosis, Narrow mouth, Ventricular septal defect, Rhizomelia, Grow... OMIM:614114
Thanatophoric Dysplasia Type 2
Atrial septal defect, Joint hyperflexibility, Short stature, Abnormality of the metaphysis, Brach... ORPHA:93274
Chromosome 10Q26 Deletion Syndrome
Long philtrum, Limited elbow extension, Atrial septal defect, Craniosynostosis, Toe syndactyly, P... OMIM:609625
Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Narrow iliac wing, Short foot, T... OMIM:300712
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Atrial septal defect, Broad ribs, Ventricular septal defect, Short ri... ORPHA:2519
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... OMIM:210720
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, Delayed epiphyseal o... ORPHA:289157
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Mandibular prognathia, Dental ... OMIM:211380
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Long toe, Short stature, Osteopenia, Long fingers OMIM:605822
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Small epiphyses, D... OMIM:611717
Cockayne Syndrome A
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Hypoplastic pelvis, Square... OMIM:216400
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint hypermobility, Genu valgum, Atrial septal defect, Recurrent shoulder dislocation, Absent ph... ORPHA:230851
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... OMIM:264480
Mccune-Albright Syndrome
Abnormality of facial skeleton, Recurrent fractures, Aneurysmal bone cyst, Fibrous dysplasia of t... ORPHA:562
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Genu valgum, Atrial septal defect, Squared iliac bo... OMIM:600373
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Broad thumb, Abnormal proximal phalanx morphology of the hand, Joint laxity, Narro... ORPHA:353281
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Coxa valga, Aplasia/Hypoplasia o... ORPHA:3320
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Long philtrum, Atrial septal defect, Joint laxity, Smooth philtrum, Abnormality of... OMIM:300968
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hip dysplasia, Oligodontia, Atrial septal defect, Macroglossia, Craniosynostosis, Open mouth, Ven... ORPHA:453499
Noonan Syndrome 7
Joint hypermobility, Atrial septal defect, Growth delay, Abnormal esophagus morphology, Thick ver... OMIM:613706
Distal Monosomy 10Q
Hip dysplasia, Atrial septal defect, Craniosynostosis, Short metatarsal, Smooth philtrum, Postnat... ORPHA:96148
Distal Xq28 Microduplication Syndrome
Open mouth, Dental crowding, Short lingual frenulum, Metatarsus adductus, Clinodactyly, Short sta... ORPHA:293939
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Abnormal proximal phalanx morphology of the hand, Broad thumb, Joint laxity, Narro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Abnormal proximal phalanx morphology of the hand, Broad thumb, Joint laxity, Narro... ORPHA:353277
Noonan Syndrome 1
Atrial septal defect, Ventricular septal defect, Dental malocclusion, Synovitis, Postnatal growth... OMIM:163950
Koolen-De Vries Syndrome
Hip dysplasia, Joint hypermobility, Atrial septal defect, Narrow palate, Open mouth, Ventricular ... OMIM:610443
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Horizontal ribs, Bowing of the legs, Lo... OMIM:269860
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Mosaic Trisomy 9
Rocker bottom foot, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abn... ORPHA:99776
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Genu ... OMIM:274000
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Noonan Syndrome 5
Atrial septal defect, Wide mouth, Thick vermilion border, Pulmonic stenosis, Short stature, Hyper... OMIM:611553
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Atrial septal defect, Short proximal phalanx of the 2nd... ORPHA:261323
Myhre Syndrome
Narrow mouth, Pericardial effusion, Camptodactyly, Birth length less than 3rd percentile, Joint s... OMIM:139210
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Atrial septal defect, Short femur, Split hand, Hypoplastic ili... ORPHA:1860
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Craniosynostosis, Hand polydactyly, Abnormal heart morphology, Abnormal aor... ORPHA:261197
Coffin-Lowry Syndrome
Bifid sternum, Narrow palate, Open mouth, Widely spaced teeth, Drumstick terminal phalanges, Mand... OMIM:303600
Kagami-Ogata Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Flexion contracture, Thin ribs, P... OMIM:608149
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Arthrogryposis multiplex congenita, Atrial septal defec... ORPHA:85201
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly, Preaxial hand... OMIM:263520
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Retrognathia OMIM:601552
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Craniosynostosis, Narrow mouth, Aplasia/Hypoplasia of the tongue, Death in ... ORPHA:1790
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Rocker bottom foot, Atrial septal defect, Humeroradial synostosis, Lambdoidal cran... OMIM:207410
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Broad thumb, Joint laxity, Narrow mouth, Flared iliac win... OMIM:180849
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Thin vermilion border, Atrial septal defect, Growth delay, S... ORPHA:261311
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal... ORPHA:2847
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Broad thumb, Growth delay, Cor triatriatum, Pulmonic stenosis, Clinodactyly... OMIM:612541
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Rabson-Mendenhall Syndrome
Macroglossia, Atrial septal defect, Dental crowding, Ventricular septal defect, Polydactyly, Abno... ORPHA:769
Hypoplastic Left Heart Syndrome
Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral atresia ORPHA:2248
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Joint laxity, Conica... ORPHA:73223
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Atrial septal defect, 4-5 finger syndactyly... OMIM:164200
Larsen Syndrome
Multiple carpal ossification centers, Atrial septal defect, Short metatarsal, Joint laxity, Ventr... OMIM:150250
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Disproportionate short stature, Abnormality of epiphysis morphology, Joint ... ORPHA:2637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Postaxial polydactyly, Knee flexion contracture, Ventricular septal defect OMIM:603387
Alagille Syndrome
Abnormality of the ribs, Short philtrum, Atrial septal defect, Ventricular septal defect, Hypopla... ORPHA:52
2Q31.1 Microdeletion Syndrome
Thin vermilion border, Abnormality of tibia morphology, Downturned corners of mouth, Broad hallux... ORPHA:251014
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Ventricular septal defect, Postnatal growth retardation, Abnormal heart... ORPHA:254534
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Ogden Syndrome
Atrial septal defect, Ventricular septal defect, Deep philtrum, Thick upper lip vermilion, Abnorm... OMIM:300855
Trisomy 18
Abnormality of the ribs, Camptodactyly of finger, Atrial septal defect, Narrow palate, Narrow mou... ORPHA:3380
Mandibuloacral Dysplasia Progeroid Syndrome
Narrow mouth, Postnatal growth retardation, Sandal gap, Decreased fibular diameter, Joint stiffne... OMIM:619127
Chromosome 9P Deletion Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Thin upper lip verm... OMIM:158170
Myhre Syndrome
Abnormality of the ribs, Thin vermilion border, Large iliac wing, Narrow mouth, Abnormality of ep... ORPHA:2588
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion co... OMIM:616867
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect OMIM:601927
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal de... ORPHA:464738
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Aphalangy of hands and feet, Aphalangy of the hands, Ventri... OMIM:207620
Tarp Syndrome
Rocker bottom foot, Abnormal duodenum morphology, Atrial septal defect, Hand polydactyly, Tongue ... ORPHA:2886
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Short philtrum, Atrial septal defect, Narrow mouth, Open mouth, Ventricular septal defect, Dental... OMIM:300967
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Proportionate short stature, Abnormal heart morp... ORPHA:488618
Omodysplasia 1
Limited knee flexion, Long philtrum, Hypoplastic distal humeri, Atrial septal defect, Limited elb... OMIM:258315
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, ... OMIM:609945
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Postnatal growth retardation, Rectovagina... OMIM:200990
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Open mouth, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic v... ORPHA:500159
Noonan Syndrome 3
Left unilambdoid synostosis, Atrial septal defect, Ventricular septal defect, High palate, Sagitt... OMIM:609942
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Growth delay, Abnormal cortical bone morphology, Double outlet right ventri... OMIM:614886
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Thi... OMIM:607143
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral cleft lip, Glossoptosis, Ventricular septal defect OMIM:618021