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Gene: Dync2h1 MGI:107736

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Gene Summary

Name:
dynein cytoplasmic 2 heavy chain 1
Synonyms:
Dnchc2,  4432416O06Rik,  m407Asp,  DHC2,  DHC1b,  m152Asp,  D030010H02Rik,  b2b414Clo,  D330044F14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dync2h1em1(IMPC)Rbrc HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Dync2h1 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 Dync2h1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Toe syndactyly, Abnormal pelvic girdle bone morphology, Postaxia... ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Enlarged kidney, Polycystic kidney d... OMIM:613091
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Preaxial hand polydactyly, Bifid tongue, Short foot, Ectopic anus, Esophageal atresia, Short ribs... ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2h1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... OMIM:217085
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Abnormal lung morphology,... ORPHA:294975
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Hypertelor... OMIM:217095
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Left superior vena cava draini... OMIM:619143
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, An... OMIM:264480
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Enlarged kidney, Hydrocephal... OMIM:314390
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... OMIM:619343
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Czeizel-Losonci Syndrome
Ureteral agenesis, High palate, Congenital megaureter, Myelomeningocele, 2-3 finger syndactyly, M... ORPHA:2437
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Bilate... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spinal dysraphism, Ventricul... ORPHA:1908
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Hypoplasia of the maxilla, Limb undergrowth, Complete... OMIM:619142
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
17Q12 Microduplication Syndrome
Deeply set eye, Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoesophageal fistul... ORPHA:261272
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Atrial ... OMIM:208530
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, High palate, Micrognathia, Hypertelorism, Coronary-pulmonary artery fistula OMIM:619699
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
White Forelock With Malformations
Atrial septal defect, Bronchomalacia, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges o... OMIM:277740
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Ventricular septal defect, Anal atresia, Atrial septal defe... OMIM:612946
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atrial septal defect,... ORPHA:3469
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis, Deeply set eye, Finger syndactyly, Clinodactyly, Hydroc... ORPHA:251046
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Genu valgum, Natal tooth, Delayed eruption of teeth, Short ribs, Capitate... OMIM:225500
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... ORPHA:2538
Acalvaria
Spina bifida, Abnormal lung lobation, Hydrocephalus, Hypertelorism, Holoprosencephaly, Postaxial ... ORPHA:945
Down Syndrome
Atrioventricular canal defect, Pulmonary artery stenosis, Short palm, Hypoplastic iliac wing, Dou... OMIM:190685
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Encephalocele, Abnormal cardiac septum morphology, Anencephaly, ... ORPHA:1590
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atrial s... ORPHA:93274
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... OMIM:300514
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Microretrognathia, Hypospadias, Tetralogy of Fallot, Hypotelorism ORPHA:276422
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Atrial septal defec... OMIM:618330
Acces Syndrome
Retrognathia, Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Tracheoesophageal f... OMIM:619959
Vacterl/Vater Association
Anorectal anomaly, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly, Ab... ORPHA:887
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pleural effusion, Pulmo... OMIM:265380
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Natal tooth, Short ribs, Short long bone, Micrognathia, Narr... OMIM:617925
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Ventricular septal defect, Abnormal cardiac septum morphology, Coron... OMIM:614294
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa... OMIM:618974
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Dislocated r... OMIM:617063
Meacham Syndrome
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... OMIM:608978
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Tonne-Kalscheuer Syndrome
Micrognathia, Velopharyngeal insufficiency, Pulmonary hypoplasia, Brachydactyly, Hypospadias, Bro... OMIM:300978
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ... ORPHA:1923
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Foot polydactyly, Micrognathia, Hydrocephalus, Coarctation of aorta, T... ORPHA:268249
Hamamy Syndrome
Dental malocclusion, Enamel hypoplasia, High palate, Tapered finger, Micrognathia, Hip dysplasia,... OMIM:611174
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... OMIM:193530
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydroc... ORPHA:77298
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Aplasia of the 1st metacarpal, Eruption failure, High palate, Unilateral ra... ORPHA:476126
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormal pleura morphology, Deeply set eye, Aplasia/Hypoplasia of the lu... ORPHA:2570
Catel-Manzke Syndrome
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Micrognathia, Clinodactyly... ORPHA:1388
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia OMIM:619083
Triploidy
Meningocele, Finger syndactyly, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, ... ORPHA:3376
Rhombencephalosynapsis
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... ORPHA:59315
Holoprosencephaly 5
High palate, Syntelencephaly, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Meckel Syndrome 14
Retrognathia, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmonary hypoplasia, Micr... OMIM:619879
Monosomy 13Q34
Micrognathia, Postaxial foot polydactyly, Hypertelorism, Postaxial hand polydactyly, Common atriu... ORPHA:96168
Trisomy 1Q
Patent ductus arteriosus, Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megau... ORPHA:261344
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... ORPHA:1120
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Syndactyly, Narrow palm, Holoprosencephaly, Abnormal heart morphology ORPHA:1445
Trisomy 13
Patent ductus arteriosus, Deeply set eye, Ventricular septal defect, Hypotelorism, Abnormal lung ... ORPHA:3378
Congenital Contractural Arachnodactyly
Camptodactyly of finger, High palate, Mitral valve prolapse, Aortic aneurysm, Tracheoesophageal f... ORPHA:115
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnor... ORPHA:2511
Short Stature-Micrognathia Syndrome
Retrognathia, Gastroesophageal reflux, 2-3 toe syndactyly, Broad femoral neck, High palate, Ventr... OMIM:617164
Congenital Tracheomalacia
Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Pneumonia, Ventricular septal defect, Esophag... ORPHA:95430
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus, Genu varum, Epiphyseal stippling, Coarse metaphyseal trabecularization,... ORPHA:1952
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Preaxial foot polydactyly, Semilobar holoprosencephaly, ... OMIM:245552
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Absent thumb... ORPHA:392
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Hypotelorism OMIM:314320
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Hypoplasia of the radius, Micrognathia, Hypotelorism, Hand oligodactyl... OMIM:602418
Alkuraya-Kucinskas Syndrome
Hand clenching, High palate, Pericardial effusion, Micrognathia, Clinodactyly, Camptodactyly, Hyd... OMIM:617822
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, 2-3 toe syndactyly, Short femoral neck, Coxa vara, Velopharyngeal insuff... OMIM:614701
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Retrognathia, Crossed fused renal ectopia, High palate, Ventricular sep... OMIM:618142
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, High palate, Ventricular septal defect, Hypotelorism ORPHA:3369
Fanconi Anemia
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Micrognat... ORPHA:84
Frontoocular Syndrome
High palate, Micrognathia, Atrial septal defect, Proptosis, Pulmonic stenosis, Hypotelorism OMIM:605321
Mosaic Trisomy 9
Camptodactyly of finger, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Deep pal... ORPHA:99776
Maternal Phenylketonuria
Double outlet right ventricle, Bifid distal phalanx of the thumb, High palate, Ventricular septal... ORPHA:2209
Agnathia-Otocephaly Complex
Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia, Tracheomal... OMIM:202650
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Holoprosencephaly, Limb undergrowth, Short palm, Patent foramen ovale, Shor... OMIM:269860
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Distal shortening of limbs, Hip dislocation, Holoprosenceph... OMIM:146510
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Mandibular prognathia, Toe syndactyly, Aplasia/Hypoplasia of fingers, Microgna... ORPHA:3082
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... OMIM:227646
Townes-Brocks Syndrome 1
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ho... OMIM:107480
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormal cerebral vascular morphology, Abnormal morphology of the radius, Hyper... ORPHA:2165
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Ventricular septal defect, Anterior encephalocele, Short femur, Holoprosenceph... OMIM:601357
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly ORPHA:2935
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, High palate, Deeply set eye, Micrognathia, Clinodactyly, Camptodactyly, ... OMIM:613604
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, Clinodacty... OMIM:619123
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Intestinal malrotation, Ecto... ORPHA:401935
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Abnormal cardiac septum morphology, Hypoplasia of the premaxilla, Micrognathia, Ab... ORPHA:2166
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, Deeply set eye, 3-4 finger cutaneous syndactyly, Pulmonar... OMIM:612530
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... ORPHA:958
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... ORPHA:52056
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Ectopic anus, Micrognathia, Dysphagia, Cleft palate, Aortic root ... ORPHA:2745
Baller-Gerold Syndrome
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, High palate, Abnormal carpal morphology, ... ORPHA:1225
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Thakker-Donnai Syndrome
Ventricular septal defect, Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, ... ORPHA:1780
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Intestinal atresia, Tracheal stenosis, Abnormal cardiac septum morphology ORPHA:93941
Cranioectodermal Dysplasia
Rhizomelia, Abnormal metaphysis morphology, Finger syndactyly, Hypotelorism, Taurodontia, Clinoda... ORPHA:1515
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
3C Syndrome
Atrioventricular canal defect, Ectopic anus, Micrognathia, Cleft palate, Ventricular septal defec... ORPHA:7
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... OMIM:220210
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... ORPHA:1354
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Esophageal atresia, Bifid uvula... OMIM:301030
Endocrine-Cerebroosteodysplasia
Micrognathia, Holoprosencephaly, Fibular bowing, Talipes equinovarus, Enlarged kidney, Hydrocepha... OMIM:612651
Distal Monosomy 7Q36
Symphalangism affecting the phalanges of the hand, Micrognathia, Hypoplasia of penis, Clinodactyl... ORPHA:1636
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Micrognathia, Ulnar deviation of finger, Abnormal distal phalanx morphology of finge... ORPHA:1387
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Deeply set eye, Ventricular septal defect, Rhizomelia, Micrognathia,... OMIM:614114
Distal Monosomy 10Q
Tapered finger, Micrognathia, Hip dislocation, Spina bifida occulta, 2-3 toe cutaneous syndactyly... ORPHA:96148
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Ventricular septal defect, Micrognathia, Arrhi... OMIM:236680
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Short femur, Spina bifida oc... ORPHA:508488
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Unilateral renal ag... OMIM:620024
Feingold Syndrome 1
Patent ductus arteriosus, Short toe, 2-3 toe syndactyly, High palate, Jejunal atresia, Gastrointe... OMIM:164280
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Tapered finger, Small hand, Deeply set eye, Hip dysplasia, Clinodactyly of... OMIM:618672
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia, ... OMIM:601016
Esophageal Atresia
Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Ventricular septal defect, Tracheoesop... ORPHA:1199
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Broad hallux, Abnormal dental enamel morphology, Short toe... ORPHA:439822
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... OMIM:615297
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Hypotelorism, Microretrognathia, Intesti... ORPHA:276413
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... OMIM:619534
Leopard Syndrome 1
Subvalvular aortic stenosis, Mandibular prognathia, Limited elbow movement, Pulmonic stenosis, Mi... OMIM:151100
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... OMIM:249670
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Clinodactyly of the 5th finger, Tracheoesophageal... ORPHA:3068
Acrootoocular Syndrome
Decreased palmar creases, Short toe, Dental malocclusion, Short metacarpal, Delayed eruption of t... ORPHA:2980
Orofaciodigital Syndrome Xvii
Retrognathia, Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fing... OMIM:617926
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, High palate, Cystathioninuria, Glossitis, Atrial septal defect, Tracheo... OMIM:277380
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Esophageal atresia, Submucous cleft hard palate, Unilateral renal agenesis, Tracheo... OMIM:619227
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly, Hydrocephalus OMIM:615938
49,Xxxxy Syndrome
Gastroesophageal reflux, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Arrhinence... ORPHA:96264
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, 2-3 toe syndactyly, Bifid tongue, Micrognathia, Hip dislocation, P... ORPHA:818
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... ORPHA:1209
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Deeply set eye, Toe syndactyly,... ORPHA:261120
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Toe synd... ORPHA:65759
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Micrognathia, Single transverse palmar crease, Hypertelorism, Talipes equinovarus, H... OMIM:613544
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pulmonary fibro... ORPHA:52047
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Deeply set eye, Clinodactyly, Hypertelorism, Malar flattening, P... OMIM:615984
Microcephaly, Autosomal Dominant
Broad hallux, Broad thumb, Hypotelorism OMIM:156580
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger, Limited elbow extension OMIM:300706
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Retrognathia, Triphalangeal thumb, Ventricular... OMIM:612561
Trisomy 18
Camptodactyly of finger, Deviation of finger, Abnormality of the upper limb, Narrow palate, Ventr... ORPHA:3380
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gastroesophageal reflux, High palate, Micrognathia, Mitral valve prolapse, Atrial septal defect, ... OMIM:300986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Hypotelorism OMIM:619091
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Short 2nd finger, 2-3 toe syndactyly, Congenital lobar overinflation, Ac... OMIM:600987
Chromosome 15Q11.2 Deletion Syndrome
Micrognathia, Swan neck-like deformities of the fingers, Short finger, Clinodactyly, Single trans... OMIM:615656
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Hype... OMIM:619859
Phocomelia, Schinzel Type
Meningocele, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, ... ORPHA:2879
Vater/Vacterl Association
Patent urachus, Vesicoureteral reflux, Ventricular septal defect, Esophageal atresia, Spina bifid... OMIM:192350
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Oculodentodigital Dysplasia
Camptodactyly of finger, Toe syndactyly, Micrognathia, Taurodontia, Short hallux, Madelung deform... ORPHA:2710
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Rhizomelia, Deeply set eye, Micrognathia, Hypotelorism, Short humerus, Hip dislocati... OMIM:602471
Pentasomy X
Patent ductus arteriosus, Camptodactyly of finger, Small hand, Abnormal cardiac septum morphology... ORPHA:11
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Tapered finger, Short foot, Small hand, Hip dysplasia, Hypotelorism, Bi... OMIM:300968
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Hypertelorism, Aplasia/Hypoplasia of the radius, Split ha... ORPHA:2117
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal ... OMIM:614815
Faciocardiomelic Syndrome
Polydactyly, Dental malocclusion, Micrognathia, Slender long bone, Hyperplasia of the maxilla, Hy... OMIM:612731
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Hematuria, Tracheoesophageal fistula, Pulmonary fibrosis, Furrowed tongue, Rec... ORPHA:1839
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Dysphagia, Cleft palate, Bilatera... OMIM:214800
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
2Q23.1 Microduplication Syndrome
Gastroesophageal reflux, Clinodactyly of the 5th finger, Broad hallux, Abnormality of the hand, S... ORPHA:313947
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal d... OMIM:300963
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... ORPHA:251071
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A... OMIM:619189
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... OMIM:610140
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Micromelia, Cl... ORPHA:63862
Congenital Hypothyroidism
Abnormal pericardium morphology, Macroglossia, Tracheoesophageal fistula, Sinusitis, Intestinal o... ORPHA:442
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Submucous cleft hard palate, Pulmonary hypoplasia, Holoprosencephaly, Cleft palat... ORPHA:250999
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Joint contracture of the hand, Short long bone, Cu... OMIM:113000
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Micrognathia... OMIM:614083
Infantile Myofibromatosis
Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal obstruction, Abnormal metaph... ORPHA:2591
Meckel Syndrome, Type 1
Camptodactyly of finger, Abnormal cardiac septum morphology, Micrognathia, Pulmonary hypoplasia, ... OMIM:249000
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Mullegama-Klein-Martinez Syndrome
Polydactyly, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly of the 5th finger, Co... OMIM:301022
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involvi... ORPHA:88630
Schilbach-Rott Syndrome
Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Clinodac... OMIM:164220
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Temple-Baraitser Syndrome
Gastroesophageal reflux, Long hallux, Atrial septal defect, Pseudoepiphysis of the thumb, Broad h... OMIM:611816
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Bifid uvula, Hip dislocation, Pulmonary hypopl... OMIM:270400
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Non-Distal Trisomy 13Q
High palate, Micrognathia, Arachnodactyly, Postaxial hand polydactyly, Hypotelorism ORPHA:1702
16P13.11 Microduplication Syndrome
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Arachnod... ORPHA:261243
Jacobsen Syndrome
Ventricular septal defect, Micrognathia, Pyloric stenosis, Missing ribs, Clinodactyly of the 5th ... OMIM:147791
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Stomach cancer, Abnormal aortic morphology, Multicystic kidney dyspl... ORPHA:1052
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Deeply set eye, Ventricula... OMIM:618454
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Vacterl With Hydrocephalus
Retrognathia, Aqueductal stenosis, Esophageal atresia, Absence of the sacrum, Micrognathia, Hypop... ORPHA:3412
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
8P23.1 Duplication Syndrome
Deeply set eye, Ventricular septal defect, Toe syndactyly, Hypertelorism, Tetralogy of Fallot, Pu... ORPHA:251076
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Displacement of the papillary muscles, Complete atrioventricular canal defec... ORPHA:1329
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Microglossia,... ORPHA:990
Timothy Syndrome
Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Syndactyly... OMIM:601005
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormality of the humerus, Foot polyd... ORPHA:3186
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Down-sloping shoulders, Prominent superficial veins, Renal hypoplasia, Hypotelorism OMIM:616817
Charge Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof... ORPHA:138
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm ORPHA:79094
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Gastroesophageal reflux, Double outlet right ventricle, Patent foramen ... OMIM:618316
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Holoprosencephaly, Brac... ORPHA:2163
Holoprosencephaly 11
Cleft palate, Holoprosencephaly, Proptosis, Hypotelorism OMIM:614226
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, High palate, Microgn... ORPHA:3304
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly, Hypertelorism OMIM:602501
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Polydactyly, High palate, Ventricular septal defect, Clinodactyly, Atrial s... OMIM:618950
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Single transverse palmar crease, High palate, Hypotelorism OMIM:618916
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Palmoplantar cutis laxa, Deeply set eye, Spina bifida occulta, Abnormal di... OMIM:268850
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Vesicoureteral reflux, Atrioventricular canal defect, Aplasia/Hypoplasia of ... ORPHA:2549
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl... OMIM:175700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Slender finger, Hypotelorism OMIM:613192
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, High palate, Deeply set eye, Hydrocephalus, Prominent superficial veins,... OMIM:612940
Acrocraniofacial Dysostosis
Short first metatarsal, Natal tooth, Short 1st metacarpal, Micrognathia, Metatarsus adductus, Pro... OMIM:201050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, Short long bone, ... ORPHA:2256
Penile Agenesis
Anorectal anomaly, Absent penis, Bilateral lung agenesis, Ventricular septal defect, Urethral fis... ORPHA:49
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Syndactyly, Renovascula... OMIM:602531
16P13.11 Microdeletion Syndrome
Metatarsus valgus, Gastroesophageal reflux, Camptodactyly of finger, Ventricular septal defect, A... ORPHA:261236
Holoprosencephaly
Spinal dysraphism, Holoprosencephaly, Cyclopia, Intestinal atresia, Ventricular septal defect, Ap... ORPHA:2162
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Pulmonary hemorrhage, Deeply set eye, Clinodactyly, Proteinuria, Hypotelorism OMIM:603585
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Renal hypop... OMIM:619053
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Stage 5 chronic kidney disease, Renal cyst, Renal ... OMIM:615993
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Vesicoureteral reflux, High palate, Narrow palate... OMIM:610443
Prader-Willi Syndrome Due To Translocation
Micrognathia, Bifid uvula, Overlapping toe, Bilateral talipes equinovarus, Cleft palate, Patent f... ORPHA:177907
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Short 5th finger, Rhizomelia, Hyperextensibility of the finger joints, Stag... OMIM:618821
Orofaciodigital Syndrome Xviii
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... OMIM:617927
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Hy... OMIM:619719
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Ritscher-Schinzel Syndrome 4
High palate, Tapered finger, Narrow palate, Deeply set eye, Hip dysplasia, Hip dislocation, Narro... OMIM:619435
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Gastroesophageal reflux, Tapered finger, Ventricular septal defect, Small hand, Dee... OMIM:301044
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Galloway-Mowat Syndrome
Camptodactyly of finger, Aqueductal stenosis, Nephrotic syndrome, Micrognathia, Adducted thumb, N... ORPHA:2065
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Hypertelorism, Sandal gap, Tetralogy of Fallot OMIM:300887
Microform Holoprosencephaly
Hypoplasia of penis, Holoprosencephaly, Tetralogy of Fallot, Cyclopia, Cleft palate, Duodenal atr... ORPHA:280200
Orofaciodigital Syndrome Xiv
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... OMIM:615948
Pallister-Hall Syndrome
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation... ORPHA:672
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, High palate, Ventricular septal defect, Micrognathia, Hip dislocation, Clin... OMIM:613884
Adams-Oliver Syndrome 6
Truncus arteriosus, Foot oligodactyly, Ventricular septal defect, Syndactyly, Renal hypoplasia, B... OMIM:616589
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Abnor... ORPHA:1166
Monosomy 18P
Micrognathia, Holoprosencephaly, Brachydactyly, Carious teeth, Cleft palate ORPHA:1598
Lowry-Maclean Syndrome
Midgut malrotation, Atrioventricular canal defect, Talon cusp, Retrognathia, Delayed eruption of ... ORPHA:2409
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux, High palate, Large hands, Single transverse palmar crease, Hypertelorism, ... OMIM:613174
Trisomy 18P
Abnormal finger morphology, Micrognathia, Pyloric stenosis, High, narrow palate, Hypotelorism ORPHA:1715
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Gastroesophageal reflux, Atrioventricular canal defect, High palate, Tapered finger... OMIM:613792
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Mandibular prognathia, Tapered finger, Ventricular septal defect, 2-3 f... ORPHA:435638
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Long toe, Slender finger, ... OMIM:613355
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Hallux valgus, Mitral ste... ORPHA:2008
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Syndactyly, Hypertelorism,... OMIM:300484
Intellectual Developmental Disorder, Autosomal Dominant 7
Micrognathia, Deeply set eye, Hallux valgus, Hypotelorism OMIM:614104
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... OMIM:263630
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Hypoplasia of t... OMIM:212780
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Gastroesophageal reflux, Patent foramen ovale, Deeply set eye, Ventricular septal defect, Hip dys... OMIM:618494
Carpenter Syndrome 1
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Abruzzo-Erickson Syndrome
Short toe, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial septal defect... ORPHA:921
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Slender toe, Clinodactyly, Down-sloping shoulders, Slender finger, Deviation of the... ORPHA:391408
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypertelorism, Hypotelorism, 4-5 toe syndactyly OMIM:611091
Vici Syndrome
High palate, Renal tubular acidosis, Hypotelorism, Hypertelorism, Ureteral atresia, Recurrent res... ORPHA:1493
Tarp Syndrome
Short sternum, High palate, Postaxial polydactyly, Tongue nodules, Hypoplasia of the radius, Micr... OMIM:311900
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micrognathia, Acromelia of t... ORPHA:1027
Lymphedema, Primary, With Myelodysplasia
Long fingers, Tapered finger, Hypotelorism OMIM:614038
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Abnormality of the gastr... ORPHA:1708
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect OMIM:253300
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Temporomandibular joint ankylosis, Micrognathia, Bifid uvula, Small... ORPHA:2872
Anaplastic Thyroid Carcinoma
Dysphagia, Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplasm of the lung ORPHA:142
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, High palate, Hypotelorism OMIM:615042
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Vesicouret... OMIM:607323
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly ORPHA:64754
Holt-Oram Syndrome
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo... OMIM:142900
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand... OMIM:614120
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ... ORPHA:2215
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... OMIM:274000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Mi... ORPHA:3320
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of... ORPHA:2001
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,... OMIM:610168
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... OMIM:607361
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly, Hypertelorism, High, narrow palate, Micropenis OMIM:615433
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis, Finger syndactyly ORPHA:3268
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn... ORPHA:90652
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Von Willebrand Disease
Deviation of finger, Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Premature Aging Syndrome, Penttinen Type
Retrognathia, Short foot, Delayed eruption of teeth, Micrognathia, Slender long bone, Hypoteloris... OMIM:601812
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal pleura morphology, Malabsorption, Dysuria, Tracheoesophageal fis... ORPHA:537
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Unilateral renal agenesis, Cleft palate, Micropenis, Hypotelorism OMIM:244200
Williams Syndrome
Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Hallux valgus, Abnormal cardiac septum m... ORPHA:904
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Syndactyly, Hyperteloris... OMIM:616006
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, High palate, Abnormality of the calcaneus, Mic... ORPHA:40366
Seckel Syndrome 7
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... OMIM:614851
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... ORPHA:488618
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, H... OMIM:616975
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... OMIM:614262
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Incisor macrodontia, Atrial septal defect, Coarctation of aorta, Single... OMIM:615502
Harrod Syndrome
Dental malocclusion, Multicystic kidney dysplasia, High palate, Abnormal pelvic girdle bone morph... ORPHA:2115
Primary Pulmonary Hypoplasia
Pneumothorax, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypopla... ORPHA:2257
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Ventricular septal defect, Hypotelorism, Short femur, Intestinal malrotation, Gastro... OMIM:617798
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, High palate, Unbalanced atrioventricular... OMIM:619657
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Metaphyseal dysplasia, Rhizomelia, Abnormality of the elbow, Short ribs... ORPHA:1842
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Type E brachydactyly, Atrial septal defect OMIM:113301
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Trigonocephaly 1
Meckel diverticulum, High, narrow palate, Long penis, Hypotelorism OMIM:190440
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Hand oligodactyly, Syndactyly... OMIM:183600
Apert Syndrome
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Postaxial hand pol... OMIM:101200
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:603194
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... OMIM:231060
Degcags Syndrome
Polydactyly, Toe syndactyly, Micrognathia, Pneumonia, Intestinal atresia, Talipes equinovarus, Pa... OMIM:619488
Giacheti Syndrome
Hypotelorism OMIM:612917
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Pulmonary hypo... OMIM:617895
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, High palate, Aqueductal stenosis, Dilation of Virchow-Robin spaces, Microg... OMIM:619512
Contractures-Developmental Delay-Pierre Robin Syndrome
Wrist flexion contracture, Abnormal finger morphology, Micrognathia, Hip dysplasia, Radioulnar sy... ORPHA:436003
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Bifid uvula, Adducted thumb, Single transverse palmar crease, Rocker botto... OMIM:618622
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Gastroesophageal reflux, Double outlet right ventricle, Patent foramen ... OMIM:301043
Bardet-Biedl Syndrome 17
Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R... OMIM:615994
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Decreased palmar creases, Joint contracture of the hand, Micrognathia, Atrial septa... ORPHA:352490
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... ORPHA:185
Periventricular Nodular Heterotopia 7
2-3 toe syndactyly, 1-4 toe syndactyly, Deeply set eye, Ventricular septal defect, 4-5 finger syn... OMIM:617201
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Mosaic Trisomy 1
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... ORPHA:1692
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia ... ORPHA:2476
Thanatophoric Dysplasia
Patent ductus arteriosus, Hip dysplasia, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defec... ORPHA:2655
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Radiou... ORPHA:2876
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... ORPHA:896
Glutathionuria
Urinary incontinence, Glutathionuria, Hypotelorism OMIM:231950
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Cerebral hemorrhage, Bicuspid aortic valve, Short finger, Clinodactyly,... OMIM:300049
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial sept... OMIM:614261
Cat Eye Syndrome
Micrognathia, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atr... OMIM:115470
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Treacher-Collins Syndrome
Patent ductus arteriosus, Retrognathia, High palate, Encephalocele, Micrognathia, Hypoplasia of p... ORPHA:861
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, 2-3 toe cutaneous syndactyly, Broad thumb OMIM:617364
Burn-Mckeown Syndrome
2-3 toe syndactyly, Mandibular prognathia, Ventricular septal defect, Micrognathia, Bifid uvula, ... OMIM:608572
Loeys-Dietz Syndrome 1
Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, ... OMIM:609192
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, C... OMIM:613885
Chromosome 17Q12 Duplication Syndrome
Deeply set eye, Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad ... OMIM:614526
Ivic Syndrome
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... OMIM:147750
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Dental malocclusion, Retrognathia, Deeply set eye, Perimembranous ventr... ORPHA:363444
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Bicuspid aortic valve, ... OMIM:618845
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Short ribs, Micrognathia, Polycystic kidney dysplasia, Missing ribs, Radial b... OMIM:617866
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly, Trachea... OMIM:217980
Monosomy 5P
High palate, Finger syndactyly, Small hand, Microretrognathia, Hypertelorism ORPHA:281
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Deeply set eye, Toe syndactyly, Microretrognath... ORPHA:261211
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Hypospadias, Bilatera... ORPHA:1913
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Gastroesophageal reflux, Genu valgum, Mandibular prognathia, Tapered finger, Bicuspid aortic valv... OMIM:619721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... OMIM:253800
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Mckusick-Kaufman Syndrome
Ectopic anus, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dy... ORPHA:2473
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... ORPHA:521308
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial effusion, Camptodactyly, Pericar... OMIM:235510
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Delayed eruption of teeth, Abnormality of the ureter, Conical inci... ORPHA:289
Kabuki Syndrome 2
Atrioventricular canal defect, Dental malocclusion, High palate, Short 5th finger, Natal tooth, M... OMIM:300867
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Camptodactyly of finger, Camptodactyly of toe, Clinodactyly,... OMIM:300244
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Missing ribs, Median clef... OMIM:184705
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal mal... ORPHA:2973
20P12.3 Microdeletion Syndrome
Atrial septal defect, Hypoplasia of the maxilla, Hypertelorism, Broad thumb, Broad hallux phalanx... ORPHA:261295
Sirenomelia
Absence of the sacrum, Spina bifida, Anal atresia, Tracheoesophageal fistula, Aplasia/Hypoplasia ... ORPHA:3169
Distal Tetrasomy 15Q
Patent ductus arteriosus, Retrognathia, High palate, Micrognathia, Polycystic kidney dysplasia, H... ORPHA:314588
Tarp Syndrome
Micrognathia, Pulmonary hypoplasia, Hypoplasia of proximal radius, Cleft palate, Glossoptosis, Ro... ORPHA:2886
Non-Syndromic Metopic Craniosynostosis
Hypotelorism ORPHA:3366
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Postaxial foot polydactyly, ... OMIM:615981
Mohr Syndrome
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand po... OMIM:252100
Feingold Syndrome Type 1
2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Micrognathia, Toe syndactyly, Multipl... ORPHA:391641
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Adducted thumb, Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Weaver Syndrome
Retrognathia, Camptodactyly of finger, Finger syndactyly, Micrognathia, Hypoplasia of penis, Hype... ORPHA:3447
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, Proptosis, 2-4 toe syndactyly, Finger... OMIM:272440
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Bifid uvula, Camptodactyly, B... OMIM:612474
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Abnormal... ORPHA:2516
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Gastroesophageal reflux, High palate, Tapered finger, Deeply set eye, Peric... OMIM:620070
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, Dental malocclusion, Dee... OMIM:619149
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Microretrognathia, Atrial septal defect, Adducted thumb, Hypertelorism, Dys... ORPHA:89844
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Retrognathia, Ventricular sept... OMIM:614576
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Ventricular septal defect, Atrial septal defect OMIM:608227
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Spindle-shaped finger, Hypertelorism, Cutaneous syndactyly, Delayed ep... ORPHA:166024
Joubert Syndrome 16
Polydactyly, Encephalocele OMIM:614465
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Nephronophthisis, ... ORPHA:1505
Truncus Arteriosus
Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:3384
Cranioectodermal Dysplasia 1
Stage 1 chronic kidney disease, Radial deviation of finger, Flattened epiphysis, Renal magnesium ... OMIM:218330
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Arachnodactyly, High palate, Atrial septal defect, Abnormality of the ureter, Sandal... ORPHA:1035
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Micrognathia, Brachydactyly, Hypertelorism, S... ORPHA:2145
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Shoulder dislocation, High palate, Cerebral hemorrhage, Bicus... ORPHA:536545
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Atrial septal defect, Arachnodactyly, Cleft palate, Malar flattening ORPHA:93946
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Micrognathia, Clinodactyly, Brachydactyly, Syndactyly... OMIM:600325
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Micrognathia, Shorte... OMIM:619135
Dyskeratosis Congenita
Anorectal anomaly, Malabsorption, Taurodontia, Esophageal stenosis, Coarse metaphyseal trabecular... ORPHA:1775
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Clinodactyly, Dilated cardiomyopathy, Unilateral renal agenesis, Ectopic kidney, ... OMIM:616541
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
Moebius Syndrome
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... OMIM:157900
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Abnormal cardiac septum morphology, De... ORPHA:2712
Halperin-Birk Syndrome
Gastroesophageal reflux, High palate, Perimembranous ventricular septal defect, Pseudobulbar para... OMIM:618651
Pfeiffer Syndrome
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... OMIM:101600
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hypoplastic ilia, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atria... ORPHA:1860
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Hypertelori... ORPHA:1406
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, High palate, Narrow palate, Short f... OMIM:613684
20Q13.33 Microdeletion Syndrome
Tapered finger, Hallux valgus, Dilation of Virchow-Robin spaces, Short lower limbs, Hip dislocati... ORPHA:261311
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Vesicoureteral reflux, 2-3 toe syndactyly, Hallux valgus, Dilation of Vi... OMIM:619951
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Coffin-Siris Syndrome 1
Coxa valga, Delayed eruption of teeth, Dislocated radial head, Spina bifida occulta, Cleft palate... OMIM:135900
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Anencephaly, Camptodactyly, Postaxial foot polydactyly, Postaxial ha... OMIM:614175
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Repeated pneumothor... OMIM:617602
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Genu valgum, High palate, Ventricular septal defect, Abnormality of the sph... ORPHA:363700
Cutis Laxa, Autosomal Recessive, Type Iiia
Hip dislocation, Adducted thumb, Congenital hip dislocation, Hypertelorism, Talipes equinovarus, ... OMIM:219150
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, 2-3 toe syndactyly, Genu valgum, Clinodactyly of ... OMIM:618870
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa... OMIM:605275
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Ventricular septal defect, Aganglionic megacolon, An... OMIM:174300
Ring Chromosome 7 Syndrome
Genu valgum, Mandibular prognathia, Short 5th finger, Small hand, Hypotelorism, Bifid uvula, Clin... ORPHA:1449
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bilateral trilobed lung, Double ... OMIM:270100
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Coxa valga, Abnormal card... ORPHA:2484
Buratti-Harel Syndrome
Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Velopharyngeal insufficie... OMIM:619314
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Saethre-Chotzen Syndrome
Triphalangeal thumb, Narrow palate, Hallux valgus, Finger syndactyly, Hypotelorism, Clinodactyly ... ORPHA:794
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Holoprosencephaly 14
Aortic valve atresia, Double outlet right ventricle, Ventricular septal defect, Aqueductal stenos... OMIM:619895
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th m... OMIM:169400
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Chromosome 13Q33-Q34 Deletion Syndrome
Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Ove... OMIM:619148
Orofaciodigital Syndrome Type 2
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T... ORPHA:2751
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect, Renal corticomedullary cysts, Hydrocephalus, Rena... OMIM:219730
Hartsfield Syndrome
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holo... OMIM:615465
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Retrognathia, Absent thumb, 2-3 toe syndactyly, Truncus arteriosus, Ven... OMIM:617516
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... ORPHA:3400
Emanuel Syndrome
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw, Ventricular septa... OMIM:609029
Adams-Oliver Syndrome
Abnormality of the upper limb, Encephalocele, Absent toe, Finger syndactyly, Arteriovenous malfor... ORPHA:974
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... ORPHA:376
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... OMIM:613870