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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
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Nephronophthisis, Abnorma... ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Talipes equinovarus, Hamartoma of tongue, Short ribs, Micropenis, Fem... OMIM:613091
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Short ribs, Micrognathia, Long philtrum, Renal cyst, Esophageal atresia, ... 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
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Cardioacrofacial Dysplasia 2
Hypodontia, Left superior vena cava draining to coronary sinus, Short philtrum, Atrioventricular ... OMIM:619143
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Polydactyly, Abnormal heart morphology, Syndactyly, Upper limb phocomelia, Abnormal... ORPHA:294975
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Hypertelorism,... OMIM:217085
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... OMIM:264480
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Diastema, Short philtrum, Postaxial polydactyly, Atrioven... OMIM:619142
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Proximal placement of thumb, Abs... OMIM:314390
Czeizel-Losonci Syndrome
Dextrocardia, Micrognathia, Hydronephrosis, High palate, Radial deviation of the thumb, Myelomeni... ORPHA:2437
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Hypospadias, Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, High pala... OMIM:617164
17Q12 Microduplication Syndrome
Toe syndactyly, Cleft palate, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula,... ORPHA:261272
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Aplasia/Hypoplasi... OMIM:617063
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Micrognathia, Cleft palate, Anencephaly, Aplasia/Hypoplas... ORPHA:1908
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Hadziselimovic Syndrome
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... OMIM:612946
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Ellis-Van Creveld Syndrome
Hypospadias, Hypodontia, Capitate-hamate fusion, Talipes equinovarus, Hypoplastic iliac wing, Cle... OMIM:225500
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Abnormality of the philtrum, Hypotelorism, Tetralogy of Fallot, Abnormality of the d... ORPHA:276422
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
White Forelock With Malformations
Bronchomalacia, Hypertelorism, Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia... OMIM:277740
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hydronephrosis, Hypotelorism, Patent ductus arteriosus, Finger syndac... ORPHA:251046
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal morphology of the radius, Hypotelorism, Anal atresia, Atrial ... ORPHA:3469
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Tonne-Kalscheuer Syndrome
Hypospadias, Micrognathia, Dysphagia, Abnormal heart morphology, Hypotelorism, Malar flattening, ... OMIM:300978
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Hypotelorism, Patent ductus arteriosus, Downturned corners of mouth, A... OMIM:618974
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Acalvaria
Cleft palate, Abnormal lung lobation, Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephal... ORPHA:945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Micrognathia, Cleft palate, Hamartoma of tongue, Postaxia... OMIM:617925
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Hypotelorism, Conical tooth, Postaxial foot polydactyl... OMIM:193530
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Micrognathia, 2-3 toe syndactyly, High palate, Eruption f... ORPHA:476126
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Abnormality of epiphysis morphology, Hyper... ORPHA:1388
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Down Syndrome
Complete atrioventricular canal defect, Broad palm, Aganglionic megacolon, Duodenal stenosis, Hyp... OMIM:190685
Vacterl/Vater Association
Hypospadias, Tracheal stenosis, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Cleft palate, An... ORPHA:887
Holoprosencephaly 5
High palate, Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Hypertelorism, Deep philtr... OMIM:609637
Triploidy
Meningocele, Hypospadias, Micrognathia, Cleft palate, Wide mouth, Holoprosencephaly, Macroglossia... ORPHA:3376
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Hydronephrosis, Hand oligodactyly, Proximal radial head dislocation, Cleft palate, ... OMIM:602418
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... ORPHA:2538
Trisomy 13
High, narrow palate, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Cleft ... ORPHA:3378
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Coarctation of aorta, Hypertelorism, Foot polydactyly, H... ORPHA:268249
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Bilateral radial aplasia, Co... OMIM:300514
Distal Monosomy 13Q
Anencephaly, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Hypertelorism, Anal atresia, Abn... ORPHA:1590
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... OMIM:265380
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Syndactyly, Thin upper lip vermilion, Radiouln... OMIM:614701
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Abnormality of the metaphysis, Patent ductus ... ORPHA:93274
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Aplasia/Hypoplasia of the lungs, Hydranencephaly, Adducted thumb, Holoprosencephaly... ORPHA:2570
Rhombencephalosynapsis
Aganglionic megacolon, Polydactyly, Hypertelorism, Short phalanx of finger, Esophageal atresia, C... ORPHA:59315
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Hypotelorism, Broad alveolar ridges, Clinodactyly of the ... OMIM:314320
Lambotte Syndrome
Ventricular septal defect, Hypertelorism, Narrow mouth, Retrognathia, Semilobar holoprosencephaly... OMIM:245552
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Hydronephrosis, Abnorma... ORPHA:1834
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Frontoocular Syndrome
Micrognathia, High palate, Hypotelorism, Pulmonic stenosis, Narrow philtrum, Atrial septal defect... OMIM:605321
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aort... OMIM:600987
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Esophag... ORPHA:1923
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate, Hypotelorism, Fifth finger distal phalanx clinodactyly, B... ORPHA:3369
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Aganglionic megacolon, Duodenal... ORPHA:210122
Delpire-Mcneill Syndrome
Hip dislocation, Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Rhizomelia, Hypotelorism, Abnormal dental enamel morphology, Abnormality... ORPHA:1515
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, High palate, Long philtrum, Double outlet right ventricl... ORPHA:2209
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Mandibular prognathia, Hypotelorism, Malar flattening, Abnormality of fing... ORPHA:2511
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft palate, Smooth philtrum, Patent ductus arteriosus, Cleft lip, Thin upper lip vermilion, Dee... OMIM:618454
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Holoprosencephaly, Esophageal atresia, Patent ductus arte... ORPHA:77298
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, High palate, Long philtrum, Hyperteloris... ORPHA:261120
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, High palate, Short philtrum, Ulnar deviation of finger, Hypotelorism, Malar flatten... ORPHA:1387
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Atrial septal defect, Postax... ORPHA:52056
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... OMIM:608978
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p... ORPHA:2935
Congenital Contractural Arachnodactyly
High palate, Mitral valve prolapse, Duodenal atresia, Arachnodactyly, Intestinal malrotation, Aor... ORPHA:115
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Hypotelorism, Patent ductus arteriosu... ORPHA:1952
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Mitral atresia, Double outlet right ve... OMIM:306955
Ring Chromosome 21 Syndrome
Narrow palm, Holoprosencephaly, Abnormal heart morphology, Small hand, Syndactyly, Clinodactyly ORPHA:1445
Monosomy 13Q34
Micrognathia, Hypertelorism, Pulmonic stenosis, Postaxial foot polydactyly, Postaxial hand polyda... ORPHA:96168
Alkuraya-Kucinskas Syndrome
High palate, Pericardial effusion, Talipes equinovarus, Adducted thumb, Hand clenching, Hypotelor... OMIM:617822
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Atrioventricular canal defect, Hypoteloris... OMIM:619123
Mosaic Trisomy 9
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... ORPHA:99776
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobati... ORPHA:1120
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Hypotelorism, Malar flattening, Congenital hip dislocation, Hypertelori... OMIM:612940
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Hydronephrosis, Rectovaginal fistula, Hyp... ORPHA:1780
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft palate, Cleft upper lip, Limb undergrowth, Hypotelorism, Joint contracture of the hand, Ove... OMIM:601016
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Micrognathia, High palate, Postaxial polydactyly, Hypertelorism, Paten... OMIM:618142
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Hydronephrosis, Cleft palate, Congenital megaureter, H... ORPHA:261344
Fanconi Anemia
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Cleft palate, Triphalangeal ... ORPHA:84
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Micrognathia, Broad hallux phalanx, Toe syndactyly, Abnormal palat... ORPHA:3082
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Bilateral cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Cleft upper... OMIM:601357
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Upper limb underg... OMIM:236680
Agnathia-Otocephaly Complex
Micrognathia, Cleft palate, Aglossia, Holoprosencephaly, Situs inversus totalis, Mandibular aplas... OMIM:202650
Distal Monosomy 7Q36
Micrognathia, Cleft palate, Wide mouth, Holoprosencephaly, Symphalangism affecting the phalanges ... ORPHA:1636
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Acro-Renal-Mandibular Syndrome
Micrognathia, High palate, Short philtrum, Hypoplastic scapulae, Abnormal lung lobation, Hypoplas... ORPHA:958
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Triphalangeal thumb, Phocomelia, Atriovent... ORPHA:392
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Micrognathia, Ap... ORPHA:1225
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the ureter, Abnormal tracheal morphology, Duodenal atre... ORPHA:141127
Pallister-Hall Syndrome
Cleft palate, Microglossia, Distal shortening of limbs, Patent ductus arteriosus, Micropenis, Syn... OMIM:146510
3C Syndrome
Hypospadias, Cleft palate, Finger syndactyly, Hydrocephalus, Hand polydactyly, Recurrent respirat... ORPHA:7
Distal Monosomy 10Q
Cleft palate, Smooth philtrum, Short metatarsal, Patent ductus arteriosus, Thin upper lip vermili... ORPHA:96148
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Micrognathia, Short middle phalanx of finger, Short 2nd toe, Talipe... OMIM:211920
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Hypoplastic right heart, Split foot OMIM:601348
Opitz Gbbb Syndrome
Hypospadias, Cleft palate, Aortic root aneurysm, Patent ductus arteriosus, Cleft lip, Ventricular... ORPHA:2745
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Long fing... OMIM:618316
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
Endocrine-Cerebroosteodysplasia
Hypospadias, Micrognathia, Cleft palate, Ulnar deviation of the hand, Ulnar deviation of the hand... OMIM:612651
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Micrognathia, Cleft palate, Abnormal lung lobation, Holoprosencephaly, Hypotelorism,... ORPHA:2166
Pde4D Haploinsufficiency Syndrome
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flat... ORPHA:439822
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Micrognathia, Hydronephrosis, Cleft palate, Double outlet... OMIM:220210
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Tapered finger, Mandibular prognathia, Hypotelorism, Small hand, Malar flattening... OMIM:618672
Congenital Tracheomalacia
Single ventricle, Patent ductus arteriosus, Double aortic arch, Emphysema, Ventricular septal def... ORPHA:95430
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Talipes equinovarus, Holoprosencephaly, Cleft upper lip, Hypotelorism, Deeply set eye OMIM:612530
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Short ribs, Patent ductus arteriosus, Hydrocephalus, Short toe, Short long b... OMIM:269860
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Abnormal mitral valve morphology, Mesomelia, Tooth agen... ORPHA:1277
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Eve... OMIM:249670
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Abnormal heart morphology, Ectopic kidney, Pelvic kidney, Hypotelorism, Hyperte... OMIM:227646
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Micrognathia, Duodenal atresia, Abnormal lung lobation, Rhizomelia, Co... OMIM:614114
Opitz Gbbb Syndrome, Type Ii
Hypospadias, Smooth philtrum, Cleft palate, Patent ductus arteriosus, Thin upper lip vermilion, V... OMIM:145410
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Cleft palate, Hypertelorism, Esophageal atresia, Anal atresia, Micropenis, Hydr... OMIM:614083
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
2Q23.1 Microduplication Syndrome
Wide mouth, Hypotelorism, Sandal gap, Broad hallux, Thin upper lip vermilion, Abnormality of the ... ORPHA:313947
Non-Distal Trisomy 13Q
Micrognathia, High palate, Long philtrum, Hypotelorism, Thin vermilion border, Arachnodactyly, Ev... ORPHA:1702
Mullegama-Klein-Martinez Syndrome
Micrognathia, Cleft palate, Smooth philtrum, Polydactyly, Short philtrum, Long philtrum, Coarctat... OMIM:301022
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Schisis Association
Cleft palate, Anencephaly, Anal atresia, Unilateral cleft lip, Spina bifida, Tracheoesophageal fi... ORPHA:63862
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Micrognathia, High palate, Mitral valve prolapse, Short philtrum, Wide mouth, Hypotelorism, Hyper... OMIM:300986
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Smith-Lemli-Opitz Syndrome
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microgloss... OMIM:270400
Esophageal Atresia
Pyloric stenosis, Cleft palate, Duodenal atresia, Morphological abnormality of the gastrointestin... ORPHA:1199
Harrod Syndrome
Hypospadias, High, narrow palate, Pyloric stenosis, High palate, Aganglionic megacolon, Hypotelor... OMIM:601095
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Intestinal atresia, Tracheoesophageal fistula, Abnormal cardiac septum morphology ORPHA:93941
Orofaciodigital Syndrome Xvii
Renal hypoplasia, High, narrow palate, Polydactyly, Median cleft lip, Micropenis, Tetralogy of Fa... OMIM:617926
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Microcephaly, Autosomal Dominant
Broad thumb, Hypotelorism, Broad hallux, Increased overbite OMIM:156580
Meckel Syndrome, Type 1
Cleft palate, Patent ductus arteriosus, Foot polydactyly, Syndactyly, Vascular dilatation, Hydroc... OMIM:249000
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Decreased palmar creases, Short finger, Supernumerary tooth, S... ORPHA:2980
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Cleft palate, Smooth philtrum, Postaxial polydactyly, Tapered finger, Long philtr... OMIM:300968
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypertelorism, Malar flattening, Narrow m... OMIM:615984
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Abnormal hip bone morphology, Hypertelorism, Craniofacial hyperostosi... ORPHA:3068
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral ... OMIM:602471
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Hypotelorism, Delayed eruption of teeth, Finger s... OMIM:264475
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Diamond-Blackfan Anemia 6
Ventricular septal defect, Micrognathia, Mitral valve prolapse, Triphalangeal thumb, Cleft palate... OMIM:612561
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Smooth philtrum, Wide mouth, Talipes equinovarus, Holopr... ORPHA:261236
Developmental And Epileptic Encephalopathy 87
Widely spaced teeth, High palate, Wide mouth, U-Shaped upper lip vermilion, Hypertelorism, Hypote... OMIM:618916
Smith-Lemli-Opitz Syndrome
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the radius... ORPHA:818
Faciocardiomelic Syndrome
Micrognathia, Polydactyly, Wide mouth, Long philtrum, Hyperplasia of the maxilla, Slender long bo... OMIM:612731
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe OMIM:615297
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Patent ductus arteriosus, Medullary nephrocalcinosis, Syndactyly, Hydrocephalus... OMIM:619534
Trisomy 18
Cleft palate, Deviation of finger, Camptodactyly of finger, Cyclopia, Microretrognathia, Ventricu... ORPHA:3380
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Curved middle phalanx of the 4th toe, Hypotelorism, Hypertelorism,... ORPHA:276413
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Palmoplantar keratoderma, Abnormal dental enamel morphology, Finger ... ORPHA:2710
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Radial club hand, Holoprosencephaly, Hypertelorism, Abnormality of the radius, Prop... ORPHA:2165
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Ventricular septal defect, Hydronephrosis, Smooth philtrum, Polydactyl... OMIM:618950
Phocomelia, Schinzel Type
Fibular aplasia, Meningocele, Micrognathia, Radial bowing, Hand oligodactyly, Hypoplasia of penis... ORPHA:2879
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Hydronephrosis, Long philtrum, Hypertelorism, Pulmonic... ORPHA:251076
Hereditary Mucoepithelial Dysplasia
Hematuria, Gingival overgrowth, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pu... ORPHA:1839
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistu... OMIM:619227
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Cleft palate, Wide mouth, Ectopic anus, Atr... ORPHA:2549
Filippi Syndrome
Ventricular septal defect, Hypodontia, Microdontia, Short philtrum, Thin vermilion border, 2-4 to... OMIM:272440
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Short philtrum, Hypertelorism, Patent ductus arteriosus, Protruding to... OMIM:300963
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Broad hallux phalanx, Micrognathia, Abnormal aortic morphology, Hypo... ORPHA:251071
Schilbach-Rott Syndrome
Hypospadias, Micrognathia, Hypotelorism, Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth,... OMIM:164220
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Micrognathia, Anteriorly placed anus, Atrioventricular canal defect, A... OMIM:600123
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Hypertelorism, Hypotelorism, Thin upper lip vermilion, Single transve... OMIM:613544
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Micrognathia, Oligodontia, Hypotelorism, Down-sloping shoulders, Downturned cor... OMIM:616817
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Hydronephrosis, Double outlet... OMIM:179613
Li-Campeau Syndrome
Ventricular septal defect, Long philtrum, Gastrointestinal dysmotility, Hypertelorism, Patent duc... OMIM:619189
1Q41Q42 Microdeletion Syndrome
Cleft palate, Talipes equinovarus, Holoprosencephaly, Hypotelorism, Thick vermilion border, Pulmo... ORPHA:250999
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Holoprosencephaly, Recurrent Infections, And Monocytosis
Tapered finger, Holoprosencephaly, Short finger, Micropenis, Short toe, Brachydactyly OMIM:610680
Prader-Willi Syndrome Due To Translocation
Carious teeth, Cleft palate, Microdontia of primary teeth, Patent ductus arteriosus, Thin upper l... ORPHA:177907
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis, Mandibular aplasia, Microglossia, Narrow mouth, Cyclop... ORPHA:990
Braddock Syndrome
Micrognathia, Hypotelorism, Missing ribs, Pulmonary fibrosis, Unilateral renal agenesis, Preaxial... ORPHA:52047
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Median cleft lip, Hypotelorism, M... ORPHA:3186
Hartsfield Syndrome
Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Hypertelorism, Split han... ORPHA:2117
Infantile Myofibromatosis
Abnormal intestine morphology, Neoplasm of the lung, Abnormality of the metaphysis, Intestinal ob... ORPHA:2591
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Syndac... OMIM:228940
Microform Holoprosencephaly
Cleft palate, Short philtrum, Duodenal atresia, Holoprosencephaly, Solitary median maxillary cent... ORPHA:280200
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Monosomy 18P
Carious teeth, Micrognathia, Cleft palate, Hypodontia, Short philtrum, Holoprosencephaly, Tooth m... ORPHA:1598
Congenital Hypothyroidism
Sinusitis, Macroglossia, Abnormality of epiphysis morphology, Nephrolithiasis, Intestinal obstruc... ORPHA:442
Timothy Syndrome
Ventricular septal defect, Microdontia, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndac... OMIM:601005
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, Shor... OMIM:608572
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, High palate, Tapered finger, Atrioventricular canal defect, Postaxial polydactyly, ... OMIM:613792
Charge Syndrome
Arrhinencephaly, Absent tibia, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Malar ... OMIM:214800
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Tapered finger, Long fingers, Malar flattening, Proximal placement of ... OMIM:613458
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Abnormal heart morphology, Micropenis, Abnormal tracheobronchial morphology, Microp... OMIM:218450
8Q24.3 Microdeletion Syndrome
Smooth philtrum, Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Thin ... ORPHA:508488
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... ORPHA:435638
Vater/Vacterl Association
Hypospadias, Patent urachus, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arterio... OMIM:192350
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Hypotelorism OMIM:619091
Holoprosencephaly 11
Cleft palate, Holoprosencephaly, Hypotelorism, Cleft lip, Proptosis OMIM:614226
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Deviation of the 5th toe, Oligodontia, Long philtrum, Short philtrum, Hypotelorism,... ORPHA:391408
Richieri-Costa/Guion-Almeida Syndrome
Cleft palate, Palmoplantar cutis laxa, Mandibular prognathia, Cleft upper lip, Hypotelorism, Mala... OMIM:268850
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Short philtrum, Hypertelorism, Thin vermilion border, Finger s... ORPHA:1406
Feingold Syndrome 1
Micrognathia, 2-3 toe syndactyly, High palate, 4-5 toe syndactyly, Duodenal atresia, Aplasia/Hypo... OMIM:164280
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, 2-3 toe syndactyly, High palate, Persistent left superior vena cava, Double outlet ... ORPHA:3304
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Cleft palate, Smooth philtrum, Broad hallux, Thin upper lip vermilion, Campto... OMIM:301044
Holoprosencephaly
Hydrocephalus, Hand polydactyly, Cyclopia, Intestinal atresia, Tooth agenesis, Deeply set eye, Sp... ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Adducted thumb, Rocker bottom foot, Short philtrum, Mandibular prognathia, Hypot... OMIM:618622
Trisomy 18P
Pyloric stenosis, High, narrow palate, Micrognathia, Hypotelorism, Thin vermilion border, Abnorma... ORPHA:1715
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... ORPHA:65759
49,Xxxxy Syndrome
Carious teeth, Arrhinencephaly, Cleft palate, Talipes equinovarus, Abnormal dental enamel morphol... ORPHA:96264
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Incisor macrodontia, Coarctation of aorta, Hypertelorism, Thin vermi... OMIM:615502
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Delayed e... OMIM:113000
Mend Syndrome
2-3 toe syndactyly, High palate, Microretrognathia, Polydactyly, Long fingers, Overlapping finger... OMIM:300960
Acrocraniofacial Dysostosis
Metatarsus adductus, Micrognathia, Cleft palate, Short philtrum, Hypotelorism, Short 1st metacarp... OMIM:201050
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Tongue fasciculations, Recurrent respiratory inf... OMIM:253300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Cleft palate, Abnormality of... ORPHA:1166
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Koolen-De Vries Syndrome
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Aortic root aneurysm, Patent ductus arteri... OMIM:610443
Charge Syndrome
Cleft palate, Delayed eruption of teeth, Patent ductus arteriosus, Micropenis, Abnormality of tib... ORPHA:138
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Smooth philtrum, Polydactyly, Hypertelorism, Syndactyly, Hydrocephalus OMIM:602501
Jacobsen Syndrome
Hypospadias, Pyloric stenosis, Ventricular septal defect, Micrognathia, U-Shaped upper lip vermil... OMIM:147791
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Abnormality of the philtrum, Finger syndactyly, Abnormality of the dent... ORPHA:3268
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Mcdonough Syndrome
Ventricular septal defect, Micrognathia, Short philtrum, Mandibular prognathia, Hypertelorism, Fu... OMIM:248950
Rhizomelic Limb Shortening With Dysmorphic Features
Micrognathia, Smooth philtrum, Hyperextensibility of the finger joints, Long philtrum, Rhizomelia... OMIM:618821
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Cleft palate, High palate, Postaxial polydactyly, Cleft upper lip, ... OMIM:277170
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Polydactyly, Cleft palate, Hypertelorism, Syndactyly... OMIM:300484
Mental Retardation, Autosomal Recessive 13
Smooth philtrum, Short philtrum, Cleft upper lip, Hypertelorism, Hypotelorism, Downturned corners... OMIM:613192
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Peripheral pulmonary artery stenosis, Oligodontia, Cubitus valg... ORPHA:2712
Abruzzo-Erickson Syndrome
Hypospadias, Toe syndactyly, Abnormal palate morphology, Cleft palate, Ulnar deviation of finger,... ORPHA:921
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Hypertelorism, Sandal gap, Atrial septal defect, Tetralog... OMIM:300887
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Abnormal heart morphology, Microglossia, Short ribs, Hip dislocation,... OMIM:241800
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Irregular dentition, Hypertelorism, Intestinal lymphangiectasia, Synd... OMIM:616006
Galloway-Mowat Syndrome
Micrognathia, Adducted thumb, Nephrotic syndrome, Hypotelorism, Hypertelorism, Hiatus hernia, Nep... ORPHA:2065
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... OMIM:610140
Pentasomy X
Micrognathia, Hypertelorism, Small hand, Patent ductus arteriosus, Short foot, Hip dysplasia, Abn... ORPHA:11
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Hypospadias, Smooth philtrum, Patent ductus arteriosus, Micropenis, Unilateral ren... ORPHA:363444
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Arachnodactyly, Transposition of the great arter... ORPHA:261243
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Abnormal aortic morphology, Cleft palate, Duodenal atresia, Stomach cancer, Abnorma... ORPHA:1052
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Kennerknecht Syndrome
Toe syndactyly, Hypodontia, High palate, Hypotelorism, Toe clinodactyly, Acetabular dysplasia, De... OMIM:600908
Congenital Disorder Of Glycosylation, Type Iif
Short philtrum, Hypotelorism, Pulmonary hemorrhage, Aminoaciduria, Proteinuria, Clinodactyly, Dee... OMIM:603585
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Intestinal malrotation, Narrow palate, Increased overbi... OMIM:613684
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Single transverse palmar crease, High palate, Hypo... OMIM:619053
Lowry-Maclean Syndrome
Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Pyloric stenosis, Midgut malrotatio... ORPHA:2409
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Talipes equinovarus, Long philtrum, Hypertelorism, Patent ductus arteriosus, Tetralo... OMIM:239711
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Ellis Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Cubitus valgus, Delayed eruption of teeth, Foot polydactyly,... ORPHA:289
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Acrocardiofacial Syndrome
Hypospadias, Hallux valgus, Cleft palate, Truncus arteriosus, Mitral stenosis, Finger syndactyly,... ORPHA:2008
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Malar flattening, Hydrocephalus, C... ORPHA:90652
Shashi-Pena Syndrome
Hypertelorism, Atrial septal defect, Proptosis, Retrognathia, Deep palmar crease OMIM:617190
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding, Abnormality of the mouth OMIM:600195
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Treacher-Collins Syndrome
Cleft palate, Malar flattening, Abnormal dental enamel morphology, Patent ductus arteriosus, Hypo... ORPHA:861
Mental Retardation, Autosomal Dominant 7
Thick lower lip vermilion, Hallux valgus, Micrognathia, Smooth philtrum, Hypotelorism, Thin upper... OMIM:614104
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... ORPHA:1329
Mental Retardation, Buenos Aires Type
Carious teeth, Hypospadias, High palate, Wide mouth, Mandibular prognathia, Hypertelorism, Atrial... OMIM:249630
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal... OMIM:608227
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Micrognathia, Cleft palate, Hamartoma of tongue, Postaxial polydactyly... OMIM:615948
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Delay... ORPHA:2863
Vacterl With Hydrocephalus
Micrognathia, Arrhinencephaly, Absence of the sacrum, Hypoplasia of the radius, Esophageal atresi... ORPHA:3412
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Micrognathia, Abnormal tracheal morphology, Deep palmar crease,... ORPHA:2872
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Micrognathia, Cleft palate, Cleft upper lip, Double outle... OMIM:231060
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Cleft palate, Duodenal atresia, Submucous cleft hard pal... OMIM:301043
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, Micrognathia, Smooth philtrum, High palate, Duodenal atre... OMIM:616975
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Endocardial Fibroelastosis
Abnormal palate morphology, Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Tarp Syndrome
Horseshoe kidney, Micrognathia, Hydronephrosis, Cleft palate, High palate, Talipes equinovarus, P... OMIM:311900
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Hypertelorism, Malar flattening, Congenital hip dislocation, Patent ductus arteriosus, Atrial sep... OMIM:601450
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Hypotelorism, Thin upper lip vermilion OMIM:615042
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Large hands, Long fingers, Hypertelorism, Hypotelorism, Proptosis OMIM:613174
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Hypotelorism, Short distal phalanx of finger, Hypoplastic vertebral bodies, Co... ORPHA:2163
Mosaic Trisomy 1
Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Micrope... ORPHA:1692
Autosomal Recessive Amelia
Amelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Non-midl... ORPHA:1027
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, Hypoplasia of penis, Hypertelorism, Fi... ORPHA:2256
Pallister-Hall Syndrome
Hypospadias, Arrhinencephaly, Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Recu... ORPHA:672
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Pu... ORPHA:49
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia, Deeply set eye, Atrial sept... OMIM:614526
Hydrolethalus Syndrome 2
Preaxial polydactyly, Hydrocephalus, Anencephaly, Postaxial polydactyly OMIM:614120
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Harrod Syndrome
Hypospadias, High palate, Hypotelorism, Arachnodactyly, Multicystic kidney dysplasia, Narrow mout... ORPHA:2115
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Decreased palmar creases, Narrow palm, Short philtrum, Abnormal heart morphology, H... ORPHA:352490
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Smooth philtrum, Rectal prolapse, Talipes equinovarus, Oligodontia, ... OMIM:235510
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Hypospadias, Ventricular septal defect, High palate, Pneumothorax, Coarctation of ... OMIM:617602
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Hypospadias, Broad thumb, Abnormal heart morphology, 3-... OMIM:175700
Vici Syndrome
High palate, Renal tubular acidosis, Hypotelorism, Hypertelorism, Cardiomyopathy, Recurrent respi... ORPHA:1493
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Cleft palate, High palate, Talipes equinovarus, Abnormality of the elbow, Ulnar dev... ORPHA:93359
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Long philtrum, Hypertelorism, Malar flattening, Atrial septal defect, Narro... ORPHA:261295
Wahab Syndrome
Adducted thumb, Short foot, Short thumb, Short metacarpal, Syndactyly, Short palm, Camptodactyly,... OMIM:615170
Mosaic Trisomy 16
Hypospadias, Short forearm, Patent ductus arteriosus, Syndactyly, Abnormal lung morphology, Ventr... ORPHA:1708
Carpenter Syndrome 1
Genu varum, Hydroureter, Malar flattening, Joint contracture of the hand, Patent ductus arteriosu... OMIM:201000
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm ORPHA:79094
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Micrognathia, Abnormal aortic morphology, Hypertelorism, Patent d... ORPHA:2001
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Polydactyly OMIM:615987
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Micrognathia, Hydronephrosis, Rectal prolapse, Pulmonary hypoplasia, Bronchomal... OMIM:613177
Mohr Syndrome
Cleft palate, Metaphyseal irregularity, Malar flattening, Accessory oral frenulum, Syndactyly, Hy... OMIM:252100
Lymphedema, Primary, With Myelodysplasia
Long fingers, Hypotelorism, Tapered finger OMIM:614038
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertensi... OMIM:602531
Chromosome 3Q13.31 Deletion Syndrome
High, narrow palate, High palate, Short philtrum, Hypertelorism, Micropenis, Alobar holoprosencep... OMIM:615433
Ritscher-Schinzel Syndrome 4
Dysphagia, High palate, Ulnar deviation of the hand, Narrow palm, Tapered finger, Wide mouth, Sho... OMIM:619435
Williams Syndrome
Carious teeth, Bicuspid aortic valve, Hallux valgus, Rectal prolapse, Peripheral pulmonary artery... ORPHA:904
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Abnormality of ... ORPHA:40366
Char Syndrome
Toe syndactyly, Ventricular septal defect, Symphalangism of the 5th finger, Triangular mouth, Mes... ORPHA:46627
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Syndactyly, Fo... OMIM:616589
Robinow Syndrome, Autosomal Dominant 3
Cleft palate, Patent ductus arteriosus, Cleft lip, Micropenis, Syndactyly, Camptodactyly, Short p... OMIM:616894
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Hypotelorism, Proximal placement of thumb, Bilateral single transverse palmar cre... ORPHA:261211
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
8Q12 Microduplication Syndrome
Ventricular septal defect, Long philtrum, Short foot, Atrial septal defect, Narrow mouth, Everted... ORPHA:228399
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Malar flattening, Arachnodactyly, Atrial septal defect, Narrow mouth ORPHA:93946
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Aplasia/Hypoplasia of the patel... ORPHA:3320
Degcags Syndrome
Hypospadias, Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Patent ductus arteriosus, Sy... OMIM:619488
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Triphalangeal hallux, Tubulointerstitial nephritis, Broad toe, Short ribs,... OMIM:218330
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Tracheal stenosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Hypertelorism,... OMIM:217980
Multiple Pterygium-Malignant Hyperthermia Syndrome
Metatarsus adductus, Cleft palate, Long palm, Talipes equinovarus, Tapered finger, Ulnar deviatio... ORPHA:2215
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Hypertelorism, Downturned corners of mouth, Clinodactyly of the 3r... ORPHA:521308
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Pyloric stenosis, Talipes equinovarus, Delayed eruption of teeth, Patent ductus arte... OMIM:619148
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... OMIM:300244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Postaxial polydactyly, Long philtrum, Short ribs, Hypoplasia of the ra... OMIM:617895
Orofaciodigital Syndrome I
Carious teeth, Cleft palate, Syndactyly, Vascular dilatation, Hydrocephalus, Microretrognathia, A... OMIM:311200
Trigonocephaly 1
Hypotelorism, Long penis, Meckel diverticulum OMIM:190440
Lujan-Fryns Syndrome
Micrognathia, High palate, Short philtrum, Arachnodactyly, Abnormality of the dentition, Atrial s... ORPHA:776
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Talipes equinovarus, Aor... OMIM:610168
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Metatarsus adductus, Micrognathia, Cleft palate, High, narrow palate, Abnormality of... ORPHA:436003
Coffin-Siris Syndrome 1
Hypospadias, Duodenal ulcer, Cleft palate, Hydroureter, Patent ductus arteriosus, Delayed eruptio... OMIM:135900
Holzgreve Syndrome
Renal hypoplasia, Cleft palate, Cleft upper lip, Hypoplastic left heart, Hand polydactyly OMIM:236110
Split-Hand/Foot Malformation 1
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... OMIM:183600
Craniosynostosis 2
Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Hypotelorism, Brachydactyly OMIM:604757
Toxic Epidermal Necrolysis
Dysphagia, Excessive salivation, Dysuria, Intestinal perforation, Malabsorption, Abnormality of t... ORPHA:537
White Forelock With Malformations
Abnormal palate morphology, Hypertelorism, Deep philtrum, Finger syndactyly, Atrial septal defect... ORPHA:2475
Kabuki Syndrome 2
Horseshoe kidney, Micrognathia, Cleft palate, High palate, Hypodontia, Atrioventricular canal def... OMIM:300867
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus arteriosus, Atria... ORPHA:488618
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
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Cleft palate, Short ribs, Short uvula, Syndactyly, Short long bone, Flat acetabular ... OMIM:614091
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Cleft palate, High... OMIM:609029
Renal Agenesis, Bilateral
Abnormal intestine morphology, Cleft palate, Sirenomelia, Hypertelorism, Non-midline cleft lip, T... ORPHA:1848
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Talipes equinovarus, Long fingers, Patent ductus arteriosus, Slender finge... OMIM:613355
Zechi-Ceide Syndrome
Cleft palate, Short philtrum, Oligodontia, Mandibular prognathia, Abnormal heart morphology, Shor... ORPHA:217017
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Hypertelorism, Renal cyst, Duplication of phalanx of hallux, Atrial se... OMIM:263630
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Gastroe... OMIM:619149
Prune Belly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Talipes eq... ORPHA:2970
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Hypertelorism, Clinodacty... OMIM:614261
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, High palate, Short philtrum, Long philtrum, Mandibular prognathia, Long fingers, Hy... OMIM:619512
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Talipes equinovarus, Aor... OMIM:609192
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Hypotelorism, Long philtrum OMIM:618500
Weaver Syndrome
Micrognathia, Talipes equinovarus, Long philtrum, Large hands, Hypertelorism, Abnormality of the ... ORPHA:3447
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... ORPHA:1842
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, High palate, Arachnodactyly, Genu valgum, Sandal gap, Atrial septal de... ORPHA:1035
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Micrognathia, High palate, Transposition of the great art... ORPHA:1913
Lethal Faciocardiomelic Dysplasia
Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... ORPHA:1972
Tarp Syndrome
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Finger syndactyly, Hand polydactyly, Ab... ORPHA:2886
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Mental Retardation, Autosomal Recessive 5
Smooth philtrum, Short philtrum, Hypertelorism, Hypotelorism, Thick upper lip vermilion OMIM:611091
Primary Pulmonary Hypoplasia
Dextrocardia, Micrognathia, Cleft palate, Abnormal tracheal morphology, Pneumothorax, Recurrent r... ORPHA:2257
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Cleft palate, High palate, Oligodontia, Hypertelorism, Joint contracture of the han... OMIM:600325
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Syndactyly, Abnormality of the dentition, Brachydactyly OMIM:615982
Von Willebrand Disease
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Oral cleft OMIM:611638
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Micrognathia, Smooth philtrum, Short philtrum, Talipes equinovarus, Abnormal h... OMIM:618343
Mckusick-Kaufman Syndrome
Cleft palate, Patent ductus arteriosus, Finger syndactyly, Urogenital sinus anomaly, Ventricular ... ORPHA:2473
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Abnor... OMIM:612626
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... OMIM:142900
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Hypertelorism, Finger syndactyly, Hydrocephalu... ORPHA:380
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Hypertelorism, Delayed epiphyseal ossification, Genu valgum, Cutaneous syn... ORPHA:166024
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Camptodacty... OMIM:614262
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Hypertelorism, Missing ri... OMIM:617866
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Malar flattening, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyl... OMIM:608571
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Ventricular septal defect, Micrognathia, Truncus arteriosus, Abnormal aortic... ORPHA:2516
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Long philtrum, Hypertelorism, Patent ductus arteriosus, Radial devi... OMIM:609625
Recombinant 8 Syndrome
Ventricular septal defect, Micrognathia, Patellar aplasia, Cleft palate, Cleft upper lip, Abnorma... ORPHA:96167
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Thanatophoric Dysplasia
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Abnormality of the metaphysis, P... ORPHA:2655
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Recurrent respiratory infection... ORPHA:1507
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Talipes equinov... OMIM:616145
Steinfeld Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal heart morphology, Holoprosencephaly, Median... OMIM:184705
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Tracheoesophageal fistula, Laryngotracheal stenosis ORPHA:142
Fg Syndrome Type 1
Hypospadias, Pyloric stenosis, Broad toe, Malar flattening, Finger syndactyly, Hydrocephalus, Mic... ORPHA:93932
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Cleft palate, High palate, Hamartoma of tongue, Short finger, Posta... OMIM:258860
Amyotrophy, Hereditary Neuralgic
Cleft palate, Hypotelorism, Narrow mouth, Deeply set eye OMIM:162100
Ritscher-Schinzel Syndrome 3
Micrognathia, Epiphyseal stippling, Atrioventricular canal defect, Shortening of all distal phala... OMIM:619135
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Short 5th metacarpal, Short 3rd metacarpal, Po... OMIM:169400
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Thick lower lip vermilion, Ventricular septal defect, Cleft palate, Triph... OMIM:220500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Enamel hypoplasia, Syndactyly, Thin upper lip vermilion OMIM:613576
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Short distal phalanx of toe, Bila... OMIM:619356
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Anal atresia, Spina bifida,... ORPHA:3169
Monosomy 5P
High palate, Hypertelorism, Small hand, Finger syndactyly, Microretrognathia ORPHA:281
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Micrognathia, Smooth philtrum, High palate, Long philtrum, Small hand,... OMIM:270450
Progeroid Facial Appearance With Hand Anomalies
Cutaneous finger syndactyly, Short philtrum, Long fingers, Thin vermilion border, Arachnodactyly,... OMIM:602249
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... ORPHA:1505
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Renal hypoplasia, Limb undergrowth, Hypotelorism, Tooth malposition, Micr... OMIM:616541
20Q13.33 Microdeletion Syndrome
Hypospadias, Abnormal cardiac ventricle morphology, Hallux valgus, Short lower limbs, Smooth phil... ORPHA:261311
Pfeiffer Syndrome
High palate, Elbow ankylosis, Bronchomalacia, Mandibular prognathia, Broad thumb, Hypertelorism, ... OMIM:101600
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Open bite, Broad thumb, Hypotelorism, Hypertelo... ORPHA:794
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, 2-3 toe syndactyly, Cleft palate, Cleft upper lip, Abnormal heart morphology, Hyper... OMIM:239800
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Vascular dilatation, Short humerus, Up... OMIM:607323
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Smooth philtrum, Diastema, Wide mouth, Large hands, Hypertelorism, Volvulu... OMIM:615009
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... ORPHA:363417
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Aplasia/Hypoplasia of the lungs, Cleft palate, Hypertelorism, Malar flattening, Fin... ORPHA:2145
Moebius Syndrome
Micrognathia, High palate, Dysphagia, Talipes equinovarus, Hand clenching, Lower limb undergrowth... OMIM:157900
Distal Tetrasomy 15Q
Horseshoe kidney, Micrognathia, Hydronephrosis, High palate, Abnormal heart morphology, Hypertelo... ORPHA:314588
Gordon Syndrome
Cleft palate, High palate, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi... ORPHA:376
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Hydrocephalus, Abnormality of the sphenoid sinus, Abnormality of tibia morphology, Hyp... ORPHA:363700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Cleft palate, Smooth philtrum, Posta... ORPHA:404440
Halperin-Birk Syndrome
Micrognathia, High palate, Talipes equinovarus, Pseudobulbar paralysis, Perimembranous ventricula... OMIM:618651
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, 2-3 toe syndactyly, Cleft palate, Finger syndactyly, Ventricular septal defect, Left... ORPHA:464738
Coffin-Siris Syndrome 5
Thick lower lip vermilion, Wide mouth, Short philtrum, Arachnodactyly, Sandal gap, Atrial septal ... OMIM:616938
Pentalogy Of Cantrell
Abnormality of tibia morphology, Hypospadias, Ventricular septal defect, Cleft palate, Anencephal... ORPHA:1335
Acrocallosal Syndrome
Hypospadias, Cleft palate, Smooth philtrum, Finger syndactyly, Micropenis, Microretrognathia, Tri... OMIM:200990
Bohring-Opitz Syndrome
Cleft palate, Syndactyly, Short toe, Camptodactyly, Broad alveolar ridges, Broad palm, Ventricula... OMIM:605039
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Me... OMIM:615994
Giacheti Syndrome
Hypotelorism OMIM:612917
Orofaciodigital Syndrome Type 5
Absent cupid's bow, Accessory oral frenulum, Hypodontia, Aganglionic megacolon, Cleft soft palate... ORPHA:2919
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Hypotelorism, Drooling OMIM:618718
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Hypertelorism, Pulmonic stenosis, Atrial se... OMIM:618499
Tetraamelia Syndrome 2
Ventricular septal defect, Micrognathia, Bilateral cleft lip, Hypoplastic pulmonary veins, Glosso... OMIM:618021
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Seizures-Scoliosis-Macrocephaly Syndrome
Long philtrum, Hypertelorism, Atrial septal defect, Gastroesophageal reflux, Overlapping toe ORPHA:466926
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Hypospadias, Cleft palate, Smooth philtrum, Multiple small bowel atresias, Malar flattening, Join... OMIM:218649
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, Flat acetabular roof, Ventricular septal defect, 2-3 toe syndactyly, ... OMIM:618870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Hypotelorism, Deep philtrum, Thin upper lip vermilion, Dental malocclu... ORPHA:329178
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Smooth philtrum, Hypertelorism, Cardiomegaly, Patent ductus arteriosus... OMIM:618652
Hamamy Syndrome
Micrognathia, Smooth philtrum, High palate, Hypodontia, Wide mouth, Tapered finger, Long philtrum... OMIM:611174
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental crowding, Long philtrum, Cleft soft palate, Hypertelorism, Gingival overgrow... OMIM:616331
Proboscis Lateralis
Ventricular septal defect, Abnormality of ethmoid bone, High palate, Aplasia/Hypoplasia of the ma... ORPHA:141099
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Cleft upper lip, Hypotelorism, Micropenis, Unilateral renal agenesis OMIM:244200
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Focal segmental glomeruloscleros... OMIM:616730
Silver-Russell Syndrome 3
Hypospadias, Patent ductus arteriosus, Syndactyly, Retrognathia, Finger clinodactyly OMIM:616489
Seckel Syndrome 7
Hypotelorism, Clinodactyly, Hip dysplasia, Abnormality of the carpal bones, Madelung deformity OMIM:614851
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Hydronephrosis, Bowing of the long bones, Hypertelorism, Tooth mal... ORPHA:2484
Holoprosencephaly 3
Hydronephrosis, Cleft palate, Holoprosencephaly, Solitary median maxillary central incisor, Hypot... OMIM:142945
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Dyskeratosis Congenita
Carious teeth, Hypodontia, Urethral stenosis, Palmoplantar keratoderma, Malabsorption, Coarse met... ORPHA:1775
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Smooth philtrum, High palate, Short philtrum, Long philtrum, Atrioventricular canal... OMIM:618929
Chronic Granulomatous Disease
Sinusitis, Pyloric stenosis, Malabsorption, Gingivitis, Tracheoesophageal fistula, Recurrent resp... ORPHA:379
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Micrognathia, Long philtrum, Hypertelorism, Absent uvula, Gingival overgro... OMIM:618529
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Micrognathia, High palate, Palmoplantar c... OMIM:605275
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Mitral valve prolapse, Adducted thumb, Talipes equinovarus, Long philtrum, Hypertelo... OMIM:615539
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... OMIM:147750
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Hypoplastic aortic arch, My... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, 2-3 toe syndactyly, High palate, Rhizomelia, Metaphyseal irregularity, Hyper... OMIM:618162
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Hydranencephaly, Microretrognathia, Talipes equinovarus, Re... OMIM:236500
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Aplasia/Hypoplasia of the radius, Intestinal malrotation, Urogenital sinus anomal... ORPHA:2973
Atrial Septal Defect 4