Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 7
Synonyms:
N/A

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 Kif7 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 predicted to be associated to Kif7 by phenotypic similarity.

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