Gene Summary

Name:
ciliogenesis and planar polarity effector 1
Synonyms:
b2b012Clo,  Jbts17,  Hug,  2410089E03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Cplane1em1(IMPC)Tcp HOM E12.5 0.00
preweaning lethality, complete penetrance Cplane1em1(IMPC)Tcp HOM   Early adult 0.00

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Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

2 Images

Gross Morphology Embryo E14.5-E15.5

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Cplane1 mutations

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

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

The table below shows human diseases predicted to be associated to Cplane1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart, Ventricular sep... OMIM:265380
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Abnormality of the vertebral column, Stillbirth, Sy... ORPHA:294975
Robinow Syndrome
Acromesomelia, Broad nasal tip, Missing ribs, Long philtrum, Tricuspid atresia, Hydronephrosis, M... ORPHA:97360
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ectopic kidney, Long philtrum, Atrial septal defect, Intestinal malrotation, Dislo... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Abnormal lung lobation, Short neck, Intrauterine growth retardation, Renal hypopl... ORPHA:2516
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Accessory oral frenulum, Short philtrum, Postaxial foot polydactyly, Con... OMIM:619143
Emanuel Syndrome
Long philtrum, Micrognathia, Scoliosis, Ventricular septal defect, Cleft palate, Renal agenesis, ... OMIM:609029
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cerebellar hypoplasia, Decreased fibular diameter, Hydronephrosis, Micrognathia, Ventricular sept... OMIM:616897
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Intrauterine growth retardation, Atrial septal defect, Hydrone... OMIM:220210
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Micrognathia, Dandy-Walker malformation, S... ORPHA:96170
Ellis-Van Creveld Syndrome
Horizontal ribs, Dandy-Walker malformation, Hypoplastic iliac wing, Narrow chest, Genu valgum, Co... OMIM:225500
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Hypospadias, Double outlet right ventricle, Micrognathia, Right aort... OMIM:231060
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Fibular hypoplasia, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, ... OMIM:617925
Trisomy 13
Long philtrum, Hydronephrosis, High, narrow palate, Abnormal rib morphology, Scoliosis, Ventricul... ORPHA:3378
Meier-Gorlin Syndrome 7
Scoliosis, Duodenal stenosis, Ventricular septal defect, Chiari type I malformation, Aplasia/Hypo... OMIM:617063
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Long nose, Left-to-right shunt, Recurrent urinary tract infections, Re... ORPHA:363444
Pallister-Hall-Like Syndrome
Median cleft lip, Short ribs, Micropenis, Occipital encephalocele, Micrognathia, Microglossia, Ab... OMIM:241800
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Double outlet right ventricle, Micrognathia, Scol... OMIM:179613
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmon... ORPHA:2326
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestinal malrotation, Hydr... ORPHA:210122
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Cleft upper lip, 2-3 toe syndactyly, Tric... OMIM:264480
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Accessory oral frenulum, Short philtrum, Conical tooth, A... OMIM:619142
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Unilateral renal agenesis, Intrauterine growth retard... OMIM:618142
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Long philtrum, Intrauterine growth... OMIM:617022
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Block vertebrae, Total anomalous pulmonary venous return, Cerebellar hy... OMIM:306955
Chime Syndrome
Hydronephrosis, Microdontia, Ventricular septal defect, Aplasia/Hypoplasia of the phalanges of th... ORPHA:3474
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Hamartoma of tongue, Polycystic kidney dysplasia, Ventricular septal defect, Pol... OMIM:263520
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Mucopolysaccharidosis, Type X
Long philtrum, Open bite, Widely spaced teeth, Disproportionate short-trunk short stature, Scolio... OMIM:619698
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... OMIM:228940
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Single transverse palmar crease, Intrauterine gr... OMIM:253250
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Recur... ORPHA:261330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Mosaic Trisomy 9
Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Micrognathia, Micromelia, Dandy-Walker ... ORPHA:99776
Trisomy 1Q
Cerebellar hypoplasia, Hydronephrosis, Abnormal rib morphology, Multicystic kidney dysplasia, Ven... ORPHA:261344
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Cerebellar hypoplasia, Hand clenchin... ORPHA:1692
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, High palate, Clinodactyly, Patent... OMIM:619343
19P13.12 Microdeletion Syndrome
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Ventricular septal defect, ... ORPHA:254346
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Short distal phalanx of fi... OMIM:601355
Down Syndrome
Complete atrioventricular canal defect, Atlantoaxial instability, Shallow acetabular fossae, Shor... OMIM:190685
Femoral-Facial Syndrome
Missing ribs, Long philtrum, Underdeveloped nasal alae, Micrognathia, Polycystic kidney dysplasia... OMIM:134780
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Micrognathia, Spin... ORPHA:508498
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... OMIM:617927
3C Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, Hig... ORPHA:7
Otopalatodigital Syndrome Type 2
Carpal synostosis, Cerebellar hypoplasia, Hydronephrosis, Short thumb, Abnormal rib morphology, M... ORPHA:90652
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Turnpenny-Fry Syndrome
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Small hand, Mandibular prognathia... OMIM:618371
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Scimitar Syndrome
Abnormality of the vertebral column, Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-righ... ORPHA:185
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Cerebellar hypoplasia, ... OMIM:612946
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Acrocardiofacial Syndrome
Foot polydactyly, Mitral stenosis, Ventricular septal defect, Hallux valgus, Cleft palate, Cleft ... ORPHA:2008
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Short neck, Intrauterine growth retardation, Rocker bottom foot, Muscu... OMIM:618804
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Dextrocardia, Micrognathia, Ventricular septal defect, Cleft pala... OMIM:616145
Van Esch-O'Driscoll Syndrome
Bifid uvula, Intrauterine growth retardation, Atrial septal defect, Cerebellar hypoplasia, Growth... OMIM:301030
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Abnormality of lower lip, Tooth agenesis, Micr... ORPHA:1166
Fryns Syndrome
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, Tented upper lip vermilion, Microg... ORPHA:2059
Achondrogenesis Type 1B
Short neck, Aplasia/Hypoplasia of the lungs, Short thorax, Long philtrum, Severe short stature, H... ORPHA:93298
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, High palate, Kyphosis, 2-3 toe syndactyly, Short palm, Lo... ORPHA:476126
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Cerebellar dysplasia, Cerebellar hypoplasia, Overlapping fingers, Cerebellar v... OMIM:616531
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Clinodactyly, Single transverse palmar crease, Aortic regurgitation, Bulbous nose, ... OMIM:614114
Adams-Oliver Syndrome 6
Brachydactyly, Portal hypertension, Renal hypoplasia, Esophageal varix, Foot oligodactyly, Ventri... OMIM:616589
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Abnormal rib cage morphology, Metaphyseal widening, Cardiomegaly, Hi... OMIM:252500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Ascites, Narrow chest, Cleft p... OMIM:614091
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Pectus carinatum, Aortic regurgitation, Long philtrum, Generalized ar... OMIM:208050
Phenobarbital Embryopathy
Brachydactyly, Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Aplas... ORPHA:1919
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Underdeveloped nasal alae, Short stature, Malar flattening, Smoo... OMIM:611867
Kagami-Ogata Syndrome
Long philtrum, Micrognathia, Ventricular septal defect, Retrognathia, Patent ductus arteriosus, L... OMIM:608149
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Polycys... OMIM:184260
Achondrogenesis Type 1A
Short neck, Short palm, Aplasia/Hypoplasia of the lungs, Short thorax, Long philtrum, Hydrops fet... ORPHA:93299
Periventricular Nodular Heterotopia
Shoulder dislocation, Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteri... ORPHA:98892
Distal Monosomy 19P13.3
Short philtrum, Long toe, Tricuspid valve prolapse, Arachnodactyly, Hypoplasia of the maxilla, Pu... ORPHA:96129
Cardiac-Valvular Ehlers-Danlos Syndrome
Sandal gap, Recurrent shoulder dislocation, Hallux valgus, Mitral regurgitation, Genu valgum, Lef... ORPHA:230851
Mosaic Trisomy 16
Clinodactyly, Single coronary artery origin, Short thumb, Abnormal thorax morphology, Short forea... ORPHA:1708
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Vertebral segmentation defect, Sacral dimple, Short thorax, Patent duc... OMIM:618845
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Intrauterine growth retardation, Depressed nasal ridge, Thin ribs, Micrognathia,... OMIM:312150
Mosaic Variegated Aneuploidy Syndrome
Colon cancer, Clinodactyly of the 5th finger, Micrognathia, Multicystic kidney dysplasia, Dandy-W... ORPHA:1052
Zttk Syndrome
Unilateral renal agenesis, Bifid uvula, Cerebellar hypoplasia, Polyuria, Scoliosis, Intestinal at... OMIM:617140
Seckel Syndrome 9
Intrauterine growth retardation, Pulmonary artery hypoplasia, Atrial septal defect, Convex nasal ... OMIM:616777
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Widely spaced teeth, Narrow vertebr... OMIM:143095
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Broad hallux, ... OMIM:217095
Marden-Walker Syndrome
Long philtrum, Cerebellar hypoplasia, Dextrocardia, High, narrow palate, Micrognathia, Dandy-Walk... OMIM:248700
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Short neck, Micropenis, Renal hyp... OMIM:617926
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... OMIM:612561
Tarp Syndrome
Clinodactyly, Abnormal duodenum morphology, Cerebellar hypoplasia, Hydronephrosis, Micrognathia, ... ORPHA:2886
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Short thorax, Patent ductus arteriosus, Intra... ORPHA:2655
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Cystic renal dysplasia, Broad palm, Hamartoma of tongue, Ventricular septal defe... OMIM:269860
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Underdeveloped na... OMIM:608572
Grange Syndrome
Short palm, Patent ductus arteriosus, Aortic regurgitation, Hypertension, Ventricular septal defe... ORPHA:79094
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Coronary artery atherosclerosis, Prenatal maternal abnormality, Scoliosis, H... ORPHA:91387
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Short neck, Aortic regurgitation, Kyphosis, Flared iliac wing, Hy... OMIM:252605
Robinow Syndrome, Autosomal Dominant 3
Clinodactyly, Long philtrum, Hypoplastic right heart, Micrognathia, Scoliosis, Ventricular septal... OMIM:616894
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Cerebellar hypoplasia, Squared iliac bones, Dandy-Walker malformation, Narrow ch... OMIM:616300
Marfanoid Habitus With Situs Inversus
Kyphosis, Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, ... OMIM:609008
Microphthalmia, Syndromic 9
Renal malrotation, Hydronephrosis, Micrognathia, Single ventricle, Ventricular septal defect, Rig... OMIM:601186
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Nephrotic syndrome, Congestive heart failure, Hydrops feta... OMIM:269920
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, Hydronephrosis, Short thumb, Micrognathia, Sho... ORPHA:391641
Marfanoid Hypermobility Syndrome
High palate, Aortic regurgitation, High, narrow palate, Pectus excavatum, Arachnodactyly, Aortic ... OMIM:154750
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Pulmonary artery hypoplasia, Tricuspid atresia, Premature vent... ORPHA:1686
Monosomy 13Q34
Fetal pyelectasis, Hematochezia, Epistaxis, Broad nasal tip, Postaxial foot polydactyly, Growth d... ORPHA:96168
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Multicystic kidney dyspl... ORPHA:1909
Tonne-Kalscheuer Syndrome
Brachydactyly, Narrow mouth, Velopharyngeal insufficiency, Micropenis, Wide nasal bridge, Growth ... OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Short neck, Underdeveloped nasal alae, Convex nasal ridge, Micrognathia, ... OMIM:263210
Mmep Syndrome
Triphalangeal thumb, Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Me... ORPHA:3434
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cerebellar hypoplasia, Clinodactyly of the 5th finger, Renal dysplasia, Oligohydramnios, Brachyda... OMIM:236500
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Clinodactyly o... ORPHA:3104
Hurler Syndrome
Broad nasal tip, Hypoplasia of the femoral head, Endocardial fibroelastosis, Urinary glycosaminog... OMIM:607014
Scheie Syndrome
Short neck, Aortic regurgitation, Spondylolisthesis, Depressed nasal bridge, Mandibular prognathi... OMIM:607016
2P15P16.1 Microdeletion Syndrome
Long philtrum, Cerebellar hypoplasia, Sandal gap, Hydronephrosis, Tapered finger, Everted lower l... ORPHA:261349
Alg12-Cdg
Cerebellar hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Thin ... ORPHA:79324
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cerebellar hypoplasia, Hydronephrosis, Double outlet right ventricle, Ventricular septal defect, ... OMIM:301056
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Cervical kyphosis, Broad nasal tip, Short neck, Aortic regurgitation, Tap... ORPHA:401923
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Non-midline cleft lip, Amelia involving the upper limbs, Hypopla... ORPHA:1027
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Intellectual Disability, Wolff Type
Bulbous nose, Non-midline cleft lip, Clinodactyly of the 5th finger, Thick lower lip vermilion, W... ORPHA:3080
Coffin-Lowry Syndrome
Narrow iliac wing, Broad palm, Tapered finger, Everted lower lip vermilion, Widely spaced teeth, ... OMIM:303600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Coarctation of... OMIM:217085
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Hand polydactyly, Hypoplastic left heart, Clef... OMIM:236110
Platyspondylic Dysplasia, Torrance Type
Genu varum, Micromelia, Narrow chest, Cleft palate, Bowing of the long bones, Short thorax, Hypop... ORPHA:85166
Diaphanospondylodysostosis
Missing ribs, Cystic renal dysplasia, Hammertoe, Disproportionate short-trunk short stature, Micr... OMIM:608022
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Oligohydramnios, Hypertrophic cardiomyopathy, Situs inve... OMIM:615415
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bulbous nose, Broad hallux, Coarctation of aorta, B... OMIM:612474
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Finger syndactyly, Intrauterine growth retardation, Non-midline cleft lip, A... ORPHA:1908
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... OMIM:311895
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Narrow mouth, Neonatal death, Wide nasal bridge, Micrognathia, Anisospo... OMIM:224410
Alg9-Cdg
Bifid uvula, Ureteral hypoplasia, Long philtrum, Underdeveloped nasal alae, Hydronephrosis, Micro... ORPHA:79328
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... ORPHA:3426
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Bicusp... OMIM:608978
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Micrognathia, Dan... OMIM:619148
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Keutel Syndrome
Emphysema, Sinusitis, Pulmonary artery hypoplasia, Epiphyseal stippling, Short hallux, Short thum... OMIM:245150
Noonan Syndrome 14
Clinodactyly, Long philtrum, High, narrow palate, Scapular winging, Short neck, Aortic regurgitat... OMIM:619745
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Depressed nasal ridge, Thin ribs, Micrognathia, Abnormal cervica... OMIM:253290
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Gm1 Gangliosidosis
Cherry red spot of the macula, Broad nasal tip, Long philtrum, Macroglossia, Scoliosis, Ventricul... ORPHA:354
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palat... OMIM:136760
Distal Tetrasomy 15Q
Hydronephrosis, Micrognathia, Polycystic kidney dysplasia, Dandy-Walker malformation, Scoliosis, ... ORPHA:314588
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Abno... ORPHA:958
Orofaciodigital Syndrome Vi
Tongue nodules, High palate, Clinodactyly, Brachydactyly, Central Y-shaped metacarpal, Toe syndac... OMIM:277170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Micrognathia, Micromelia, Broad long bones, Narrow chest, Cleft palate, Enc... ORPHA:1865
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Esophagitis, Abnormal lung lobation, ... ORPHA:2538
Prune Belly Syndrome
Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, Recurrent urinary tract infecti... ORPHA:2970
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Atrial septal defect, Short ribs, Preaxial polydactyly, Aplastic clavicle, Micropenis... OMIM:616546
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Broad nasal tip, Long philtrum, Hypoplastic vertebral bodies, Urin... ORPHA:79255
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Proximal tapering of metacarpals, Urinary glycosaminoglycan... OMIM:253220
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... ORPHA:392
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Oligohydramnios, Polyhydramnios, Nephropathy, Renotubu... ORPHA:3033
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Abnormal rib morpho... ORPHA:666
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydronephrosis, Renal dysplasia, Ventricular septal defect, D... OMIM:146510
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Acromelia, Cleft upper lip, Short columella, Broad palm, Abnormal heart morphology, Short stature... OMIM:233430
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Broad nasal tip, Gastrointestinal hemorrhage, Cleft maxillary alveolus... ORPHA:508488
Greenberg Dysplasia
Hypoplastic vertebral bodies, Toxemia of pregnancy, 11 pairs of ribs, Broad palm, Micrognathia, A... OMIM:215140
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Wide nose, Muscular ventricular septal defect, Tracheo... OMIM:619227
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe synd... ORPHA:3304
Mcdonough Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, Atrial septal defect, Pulmonic ste... OMIM:248950
Hydrolethalus Syndrome 1
Hydronephrosis, Micrognathia, Dandy-Walker malformation, Ventricular septal defect, Midline defec... OMIM:236680
Chromosome 18Q Deletion Syndrome
Bifid uvula, Cerebellar hypoplasia, Scoliosis, Ventricular septal defect, Mandibular prognathia, ... OMIM:601808
Temtamy Syndrome
Brachydactyly, Aortic regurgitation, Long philtrum, Convex nasal ridge, Micrognathia, Hypoplasia ... OMIM:218340
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Patent... ORPHA:1120
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Micrognathia, Spina bifida, 2-3 finger syndactyly, High palate, Sin... ORPHA:2437
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Non-midline cleft lip, A... ORPHA:2549
Distal Monosomy 15Q
Broad nasal tip, Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart, Mitral steno... ORPHA:1596
Recombinant 8 Syndrome
Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Ventricular septal defect, Cleft palate,... ORPHA:96167
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Long philtrum, Short ribs, Lateral clavicle hook, Hypoplasia of t... OMIM:617895
Achondrogenesis
Short neck, Short thorax, Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, H... ORPHA:932
Phaver Syndrome
Butterfly vertebrae, Myelomeningocele, Abnormal form of the vertebral bodies, Intrauterine growth... ORPHA:2876
Verheij Syndrome
Renal agenesis, Clinodactyly, Renal cyst, Short neck, Long philtrum, Renal hypoplasia, Short 5th ... OMIM:615583
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Clinodactyly, Trismus, Micrognathia, Scoliosis, Ventricular septal def... OMIM:154400
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus, Stillbirth, Pulmonary hypoplasia OMIM:274210
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Acromesomelia, Clinodactyly of the 5th finger, Hydronephrosis, Scolios... ORPHA:464306
Tarp Syndrome
Clinodactyly, Cerebellar hypoplasia, Hydronephrosis, Micrognathia, Cleft palate, Cerebellar vermi... OMIM:311900
Duane-Radial Ray Syndrome
Small thenar eminence, Renal malrotation, Sandal gap, Hydronephrosis, Short thumb, Scoliosis, Ven... OMIM:607323
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... ORPHA:3098
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Bulbous nose, Clinodactyly of the 5th finger, Wide nasal bridge, C... OMIM:301022
Vacterl/Vater Association
Hydronephrosis, Anorectal anomaly, Abnormal rib morphology, Multicystic kidney dysplasia, Abnorma... ORPHA:887
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Small thenar eminence, Ectopic kidney, Abnormality of the vertebral column, Cleft u... OMIM:239800
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Patent ductus arterio... ORPHA:261120
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Broad first metatarsal, Hydronephrosis, Left-to-right shunt, Everted lower lip ve... OMIM:619534
Smith-Lemli-Opitz Syndrome
Long philtrum, Hydronephrosis, Abnormal rib morphology, Micrognathia, Multicystic kidney dysplasi... ORPHA:818
Maternal Phenylketonuria
Brachydactyly, High palate, Tetralogy of Fallot, Clinodactyly, Deviated nasal septum, Long philtr... ORPHA:2209
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sacral meningocele, Hand polydactyly, Limb duplication, Cleft palate, Hip disloc... OMIM:223200
Gm1-Gangliosidosis, Type I
Cherry red spot of the macula, Dilated cardiomyopathy, Abnormal heart valve morphology, Short nec... OMIM:230500
Chromosome 6Q24-Q25 Deletion Syndrome
Long philtrum, Dysplastic tricuspid valve, Sandal gap, High, narrow palate, Small hand, Dysplasti... OMIM:612863
Femoral-Facial Syndrome
Long philtrum, Abnormal rib morphology, Polycystic kidney dysplasia, Micrognathia, Scoliosis, Thi... ORPHA:1988
Atelosteogenesis Type I
Coronal cleft vertebrae, Micrognathia, Scoliosis, Narrow chest, Cleft palate, Brachydactyly, Abno... ORPHA:1190
Johnson Neuroectodermal Syndrome
Anosmia, Patent ductus arteriosus, Micropenis, Choanal stenosis, Carious teeth, Growth delay, Rig... OMIM:147770
Stankiewicz-Isidor Syndrome
Absent thumb, Sacral dimple, 2-3 toe syndactyly, Patent ductus arteriosus, Ureteral duplication, ... OMIM:617516
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... OMIM:129540
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hydronephrosis, Tapered finger, Scoliosis, Ventricular septal defect, ... ORPHA:464311
Orofaciodigital Syndrome Type 5
Bifid uvula, High, narrow palate, Ectopic accessory finger-like appendage, Scoliosis, Accessory o... ORPHA:2919
8P23.1 Microdeletion Syndrome
Tapered finger, Micrognathia, Hypoplastic left heart, Enlarged thorax, Atrioventricular canal def... ORPHA:251071
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Everted lower lip vermilion, Hypop... ORPHA:96147
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Hydronephrosis, Mild intrauterine growth retardation, Micrognathia, Scolios... OMIM:308050
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone morphology, Abno... ORPHA:79321
Blomstrand Lethal Chondrodysplasia
Long philtrum, Micrognathia, Distal shortening of limbs, Broad clavicles, Narrow chest, Short nos... ORPHA:50945
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Non-midline ... ORPHA:1335
Stuve-Wiedemann Syndrome 1
Smooth tongue, Micrognathia, Scoliosis, Dysphagia, Short tibia, Wide nasal base, Short nose, Bowi... OMIM:601559
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Micromelia, Scoliosis, Ventricular septal defect, Scapula... OMIM:618870
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, ... OMIM:617478
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, 11 pairs of ribs, Sandal gap, Clinodactyly of the 5th finger, Everted lower lip ve... OMIM:617877
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Nonimmune hydrops fetalis, Micrognathia, Cardiomyopathy, Abnorma... OMIM:608540
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Kapur-Toriello Syndrome
Single transverse palmar crease, Short neck, Patent ductus arteriosus, Cleft upper lip, Atrial se... OMIM:244300
Monosomy 18Q
Cerebellar hypoplasia, Left-to-right shunt, Tapered finger, Atlantoaxial abnormality, Mandibular ... ORPHA:1600
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Broad palm, Tapered finger, Multicystic kidney dysplasia, Abnormal rib cage morphol... OMIM:300209
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Lateral clavicle hook, Preaxial polydactyly, Th... OMIM:615503
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Long philtrum, Open bite, Sandal gap, Clinodactyly of the 5th finge... ORPHA:1507
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarcta... OMIM:618164
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Toe syndactyly, Ectopic kidney, Horseshoe kidney, Aortic regurgitation, Bulbous n... ORPHA:140952
Orofaciodigital Syndrome Type 6
Broad nasal tip, Foot polydactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Midl... ORPHA:2754
22Q11.2 Deletion Syndrome
Foot polydactyly, Gastrointestinal hemorrhage, Tricuspid atresia, Long philtrum, Abnormal aortic ... ORPHA:567
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Cranioectodermal Dysplasia 2
Horizontal ribs, Clinodactyly, Everted lower lip vermilion, Widely spaced teeth, Microdontia, Mic... OMIM:613610
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, Mic... OMIM:300373
Galloway-Mowat Syndrome 7
Clinodactyly, Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Ventricular septal defect, ... OMIM:618348
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Internally rotated shoulders, Elbow flexion contracture, Decreased fetal movement, M... OMIM:617468
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia,... OMIM:249000
Hurler-Scheie Syndrome
Kyphosis, Aortic regurgitation, Contracture of the distal interphalangeal joint of the fingers, T... OMIM:607015
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Long philtrum, Metaphyseal spurs, T... ORPHA:96334
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Hydrops fetalis, Disproportion... OMIM:200610
Fryns Syndrome
Long philtrum, Hydronephrosis, Short thumb, Tented upper lip vermilion, Dandy-Walker malformation... OMIM:229850
Pagod Syndrome
Encephalocele, Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Situs inversus tota... ORPHA:991
Bohring-Opitz Syndrome
Broad palm, Tapered finger, Micrognathia, Dandy-Walker malformation, Ventricular septal defect, S... OMIM:605039
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Aortic regurgitation, High, narrow palate, Arachnodactyly, Adduct... ORPHA:2181
Aarskog-Scott Syndrome
Long philtrum, Clinodactyly of the 5th finger, Broad palm, Everted lower lip vermilion, Small han... ORPHA:915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Ureteral hypoplasia, Long philtrum, Hydronephrosis, Micrognathia, Rena... OMIM:614080
Hunter-Macdonald Syndrome
Clinodactyly of the 5th finger, Scoliosis, Hypertension, Mitral regurgitation, Thin upper lip ver... OMIM:611962
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Faciocardiomelic Syndrome
Long philtrum, Micrognathia, Polydactyly, Depressed nasal bridge, Cuboid-shaped vertebral bodies,... OMIM:612731
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... OMIM:201000
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Hydrops fetalis,... OMIM:215045
Achondrogenesis Type 2
Pierre-Robin sequence, Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ... ORPHA:93296
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointest... ORPHA:90308
Diamond-Blackfan Anemia 1
Colon cancer, 11 pairs of ribs, Short thumb, Micrognathia, Ventricular septal defect, Retrognathi... OMIM:105650
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, High, narrow palate, Coronary artery atherosclerosis, Micrognathia... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Patent ductus arteriosus, Clinodactyly of the 5th fing... OMIM:619717
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Broad nasal tip, Anteverted nares, Sacral dimple, Long philtrum, Atrioventricular ca... OMIM:613792
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Long philtrum, Hammertoe, Gastrointestinal dysmotility, Hydronephrosis... OMIM:270400
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Long philtrum, 11 pairs of ribs, Clinodactyly of the 5th finger, ... OMIM:117650
Autosomal Recessive Multiple Pterygium Syndrome
Long philtrum, Abnormal aortic valve morphology, Micrognathia, Abnormality of the tongue, Scolios... ORPHA:2990
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Pancreatic cysts, Hydrops fetalis, Abnormal thorax morph... ORPHA:1318
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ventricula... ORPHA:251076
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Short 1st metacarpal, Hypoplasi... OMIM:147750
Thomas Syndrome
Cleft upper lip, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia, ... ORPHA:3316
X-Linked Intellectual Disability, Siderius Type
Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Scoliosis, Oral cleft, Large hands ORPHA:85287
Endocrine-Cerebroosteodysplasia
Sandal gap, Micrognathia, Micromelia, Ulnar deviation of the hand or of fingers of the hand, Hype... OMIM:612651
Caudal Regression Syndrome
Missing ribs, Hypoplastic vertebral bodies, Scoliosis, Hypertension, Renal agenesis, Anal atresia... ORPHA:3027
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Growth delay, Pulmonic ste... ORPHA:139466
Teebi Hypertelorism Syndrome 1
Long philtrum, Aortic root aneurysm, Atrial septal defect, Broad palm, Wide nasal bridge, Microgn... OMIM:145420
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Disproportionate short stature, S... OMIM:618363
Eng-Strom Syndrome
Brachydactyly, Intrauterine growth retardation, Pectus excavatum, Scoliosis, Short stature, Ventr... ORPHA:1937
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the vertebral column, Sacroiliac arthritis, Abnormal metatarsal morphology, Abnorm... ORPHA:85438
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Protrusio acetabuli, Scoliosis, Atrial fibrillation, Retrognathia, Mitral regurgitat... ORPHA:284984
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
High palate, Clinodactyly, Abnormal heart valve morphology, Short palm, Abnormality of the dentit... OMIM:126190
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Thoracic hypo... OMIM:613124
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... OMIM:249670
Koolen-De Vries Syndrome
Hydronephrosis, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Pear-shaped nose, Re... OMIM:610443
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Bladder diverticulum, Patent foramen ovale, Long philtrum, Sandal gap, Gastroesophagea... OMIM:613177
Filippi Syndrome
Short philtrum, Cerebellar atrophy, Single transverse palmar crease, Intrauterine growth retardat... OMIM:272440
Chromosome 6Pter-P24 Deletion Syndrome
Clinodactyly of the 5th finger, Tented upper lip vermilion, Dandy-Walker malformation, Ventricula... OMIM:612582
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Orofaciodigital Syndrome V
High palate, Tetralogy of Fallot, Bifid uvula, Horseshoe kidney, Postaxial foot polydactyly, Lobu... OMIM:174300
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia, Maternal... ORPHA:1208
Vater/Vacterl Association
Hydronephrosis, Short thumb, Abnormal rib morphology, Patent urachus, Renal dysplasia, Scoliosis,... OMIM:192350
Genitopatellar Syndrome
Hypoplastic ischia, Wide nose, Short palm, Delayed eruption of teeth, Long philtrum, Atrial septa... ORPHA:85201
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Unilateral renal agenesis, Broad nasal tip, Chordee, Underdeveloped nasal ala... ORPHA:268261
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Primary Pulmonary Hypoplasia
Ureteral stenosis, Patellar hypoplasia, Intrauterine growth retardation, Dextrocardia, Micrognath... ORPHA:2257
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Micrognathia, Ventricular septal defect, Split foot OMIM:601348
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... ORPHA:229
Microcephaly-Micromelia Syndrome
Narrow mouth, Wide nose, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly... OMIM:251230
Baraitser-Winter Syndrome 1
Short neck, Long philtrum, Patent ductus arteriosus, Cleft upper lip, Micropenis, Wide nasal brid... OMIM:243310
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Abnormal mitral valve morphology, Convex nasal ridge, ... ORPHA:1277
Trichohepatoenteric Syndrome 1
Narrow mouth, Tetralogy of Fallot, Bifid uvula, Renal cortical microcysts, Aortic regurgitation, ... OMIM:222470
Acrocallosal Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Cleft palate, Short nose, Triangul... OMIM:200990
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... OMIM:314400
Marfan Syndrome
Hammertoe, Equinus calcaneus, Micrognathia, Protrusio acetabuli, Scoliosis, Retrognathia, Mitral ... OMIM:154700
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Thoracic aortic aneurysm, Patent ductus... OMIM:132900
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Ventricular septal defect, Interrupted aortic arch, Cervical ribs, Patent foramen ova... OMIM:600001
Cornelia De Lange Syndrome 1
Long philtrum, Proteinuria, Clinodactyly of the 5th finger, Widely spaced teeth, High, narrow pal... OMIM:122470
Trisomy 17P
Clinodactyly of the 5th finger, Hydronephrosis, Tapered finger, Micrognathia, Macroglossia, Polyc... ORPHA:261290
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Right aortic arch, Coarctation of aorta, Supraumbilical raphe OMIM:140850
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Supravalvular aortic stenosis, Chiari malformation, Pectus... OMIM:618624
Velocardiofacial Syndrome
Pierre-Robin sequence, Tetralogy of Fallot, Underdeveloped nasal alae, Velopharyngeal insufficien... OMIM:192430
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Short ribs, Hyd... OMIM:600972
Acromelic Frontonasal Dysostosis
Broad nasal tip, Cleft upper lip, Retrocerebellar cyst, Preaxial polydactyly, U-Shaped upper lip ... OMIM:603671
Triploidy
Narrow mouth, Finger syndactyly, Short neck, Intrauterine growth retardation, Non-midline cleft l... ORPHA:3376
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Cervical ribs, Kyphosis, Underdeveloped nasal alae, Depressed nasal ridge, Intestinal malrotation... ORPHA:77300
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Hydronephrosis, Anorectal anomaly, Abnormal rib morphology, Micrognathia, Scoliosis... ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Long philtrum, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Tapered finger, Scoliosis, ... OMIM:300998
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... ORPHA:401942
Mohr Syndrome
Broad nasal tip, Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Microgn... OMIM:252100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Intrauterine growth retardation, Atrial septal defect, Renal hypoplasia, Cerebella... ORPHA:75389
Frank-Ter Haar Syndrome
Broad nasal tip, Double outlet right ventricle, Micrognathia, Ventricular septal defect, Broad cl... OMIM:249420
Nasodigitoacoustic syndrome
High palate, Enlarged epiphyses, Short phalanx of finger, Thick upper lip vermilion, Broad hallux... OMIM:255980
Charge Syndrome
Dysplastic tricuspid valve, Hydronephrosis, Short thumb, Double outlet right ventricle, Abnormal ... OMIM:214800
Genitopalatocardiac Syndrome
Brachydactyly, Kyphosis, Intrauterine growth retardation, Non-midline cleft lip, Hypospadias, Wid... ORPHA:2075
Short Stature And Facioauriculothoracic Malformations
High palate, Cervical ribs, Short neck, Cleft upper lip, Pectus excavatum, Ventricular septal def... OMIM:609654
Developmental Delay With Or Without Dysmorphic Facies And Autism
Clinodactyly of the 5th finger, Hydronephrosis, Narrow nose, Micrognathia, Scoliosis, Thin upper ... OMIM:618454
Microphthalmia, Syndromic 12
Broad nasal tip, Wide nasal bridge, Micrognathia, Ventricular septal defect, Retrognathia, Pulmon... OMIM:615524
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Patent ductus arteriosus, Atrial septal defect, Cerebellar hypoplas... OMIM:300963
Orofaciodigital Syndrome I
Clinodactyly, Underdeveloped nasal alae, Proteinuria, Hamartoma of tongue, Ovarian cyst, Polycyst... OMIM:311200
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Long philtrum, Prominent scalp veins, Micrognathia, Scoliosis, Hallux va... ORPHA:536471
Esophageal Atresia
Clinodactyly, Gastrointestinal dysmotility, Excessive salivation, Anorectal anomaly, Scoliosis, V... ORPHA:1199
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Broad nasal tip, Atrial flutter, Patent ductus arteriosus, Atrial septal defect... OMIM:601927
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Mitral regurgitation, Narrow ... ORPHA:576
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Short thumb, High, narrow palate, Micrognathia, Chiari type I malforma... ORPHA:436003
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Hip dislocation, Long upper lip, High palat... ORPHA:93359
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Short thumb, Abnormal thorax morphology, Micrognathia, Scoli... ORPHA:280
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, 2-3 toe syndactyly, Long philtrum, Atrial septal defect, ... ORPHA:477817
Renal Dysplasia-Limb Defects Syndrome
Micrognathia, Aplasia of the ulna, Renal dysplasia, Oligohydramnios, Narrow mouth, High palate, S... OMIM:266910
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Calcaneovalgus deformity, Aortic regurgitation, Pectus excavatum, Mitral regurgitation, Mitral va... OMIM:225320
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Short ... OMIM:312870
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Aortic regurgitation, Short ribs, Scoliosis, Short st... OMIM:252600
Alagille Syndrome
Long nose, Clinodactyly of the 5th finger, Abnormal rib morphology, Micrognathia, Telangiectasia ... ORPHA:52
Microgastria-Limb Reduction Defects Association
Absent thumb, Unilateral renal agenesis, Hypoplasia of the ulna, Cystic renal dysplasia, Hand oli... OMIM:156810
Primary Ciliary Dyskinesia
Double outlet right ventricle, Recurrent sinopulmonary infections, Anomalous pulmonary venous ret... ORPHA:244
Distal Monosomy 10P
Ectopic anus, Short neck, Intrauterine growth retardation, Polycystic ovaries, Non-midline cleft ... ORPHA:1580
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Morphological abnormality of the gastrointestinal tract, Patent ductus arter... ORPHA:2847
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Polycystic kidney dysplasia, Narrow chest, Oligohyd... OMIM:200980
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilio... OMIM:220500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Long philtrum, Microdontia, Micrognathia, Scoliosis, Hall... ORPHA:536467
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Toe syndactyly, Solitary median maxillary central incisor, Patent ductus arteriosus,... OMIM:619657
Roifman Syndrome
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Narrow nose, Irregular ... OMIM:616651
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Abnormality of the vertebral column, C... OMIM:601076
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Diabetic Embryopathy
Abnormal sacrum morphology, Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, ... ORPHA:1926
Suleiman-El-Hattab Syndrome
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Patent foramen ovale, ... OMIM:618950
Neu-Laxova Syndrome 1
Clinodactyly, Cerebellar hypoplasia, Micrognathia, Micromelia, Dandy-Walker malformation, Spina b... OMIM:256520
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Foot polydactyly, Short palm, Hydrops fetalis, Tracheoesophageal fistula, Coarcta... ORPHA:268249
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Intrauterine growth retardation, Elevated urinary 4-hydroxybutyric acid, Nonimmun... OMIM:619003
Mend Syndrome
High palate, Kyphosis, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Dandy-Walker malform... OMIM:300960
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short stature, Short middle phalanx ... ORPHA:391646
Tetrasomy 9P
Amelogenesis imperfecta, Bifid uvula, Missing ribs, Aplasia/Hypoplasia of the clavicles, Abnormal... ORPHA:3310
Cutis Laxa, Autosomal Recessive, Type Iic
High palate, Broad nasal tip, Broad columella, Aortic regurgitation, Long philtrum, Atrial septal... OMIM:617402
Chromosome 15Q25 Deletion Syndrome
Short neck, Cleft upper lip, Tented upper lip vermilion, Dextrocardia, Growth delay, Pectus excav... OMIM:614294
Neuraminidase Deficiency
Cherry red spot of the macula, Urinary excretion of sialylated oligosaccharides, Proteinuria, Epi... OMIM:256550
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Broad nasal tip, Trismus, Gastroesophageal reflux, Tapered finger, Decreas... OMIM:254940
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydram... ORPHA:2204
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Atrial septal defect, Wide nasal bri... ORPHA:261295
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Atrial sept... OMIM:608406
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Vascular ring, Ventricular septal defect, Pos... OMIM:603387
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Severe short stature, Cone-shaped epiphysis... ORPHA:2511
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Oculodentodigital Dysplasia
Clinodactyly, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Micrognathia, Ventricula... ORPHA:2710
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Hamartoma of tongue, Micrognathia, Dandy-Walker malformation, Ventricular ... OMIM:615948
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Viss Syndrome
Bifid uvula, Carotid artery tortuosity, Hydronephrosis, Double outlet right ventricle, High, narr... OMIM:619472
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Short palm, Intestinal malrotation, Partial duplication of thumb phalanx, Broad ... OMIM:601165
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ureteral stenosis, Nephrocalcinosis, Hypoplasia of the ulna, Renal cyst, Patent duct... OMIM:615398
Opitz-Kaveggia Syndrome
Clinodactyly, Long philtrum, Syndactyly, Micrognathia, Cleft palate, Single transverse palmar cre... OMIM:305450
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Charlie M Syndrome
Brachydactyly, Narrow mouth, Short philtrum, Thin vermilion border, Finger syndactyly, Non-midlin... ORPHA:1406
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognathia, Microglossia, Asp... ORPHA:141152
Larsen Syndrome
Cervical kyphosis, Scoliosis, Ventricular septal defect, Cleft palate, Hip dislocation, Bipartite... OMIM:150250
Ellis Van Creveld Syndrome
Foot polydactyly, Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricu... ORPHA:289
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Aortic regurgitation, Patent ductus arteriosus, Intrauterine... ORPHA:84064
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, D-2-hydroxyglutaric aciduria, Micrognathia, Cardiomyopathy, Glutaric aciduria OMIM:600721
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Bifid ribs, Scoliosis, Narrow chest, Hemivertebrae, Rib fusion, Cleft palate, Short... OMIM:213980
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Kyphosis, Mitral regurgitation, Joint contracture of the hand, Broad palm, Congenital ... OMIM:300280
Hennekam Syndrome
Retrognathia, Ascites, Narrow chest, Narrow mouth, Mild postnatal growth retardation, Pulmonary l... ORPHA:2136
Isolated Klippel-Feil Syndrome
Ectopic anus, Abnormality of the vertebral column, Abnormal sacrum morphology, Short neck, Cervic... ORPHA:2345
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Abnormal rib mor... ORPHA:1486
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Abnormality of the kidney, Coar... ORPHA:101028
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Clinodactyly of the 5th finger, Hydronephrosis, Bundle branch block, High, narrow... ORPHA:373
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Polycystic ovaries, Non-midli... ORPHA:1770
Opitz gbbb syndrome, type II
Bifid uvula, Micrognathia, Ventricular septal defect, Dysphagia, Thin upper lip vermilion, Cleft ... OMIM:145410
Orofaciodigital Syndrome Viii
High palate, Broad nasal tip, Polydactyly, Short stature, Short tibia, Bifid nasal tip, Recurrent... OMIM:300484
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Clinodactyly, High palate, Diffuse mesangial sclerosis, Nephrotic syndrom... OMIM:616730
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricul... ORPHA:2476
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Hypoplastic vertebral bodies, Narrow chest, Short diaphyses, Cleft palat... OMIM:245190
Even-Plus Syndrome
High palate, Coronal cleft vertebrae, Vertebral clefting, Short neck, Patent foramen ovale, Depre... OMIM:616854
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Abnormal rib morphology, Micrognathia, Scoliosis, Small hand, Thin upper lip verm... OMIM:611209
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Hypoplasia of the ulna, Intrauterine growth retardation, Absent radius, Atri... OMIM:600123
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Long philtrum, Gastrointestinal dysmotility, Macroglossia, Scoliosis... ORPHA:363705
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Narrow nose, Narrow maxilla, Scoliosis, Ventricular septal defect, Short nose, High pa... OMIM:617602
Myhre Syndrome
Bifid uvula, Abnormal penis morphology, Severe short stature, Abnormal rib morphology, Hypertensi... ORPHA:2588
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Double outlet right ventricle, Mitral stenosis, Ventricular septal def... ORPHA:163956
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardatio... ORPHA:2145
Raine Syndrome
Hydronephrosis, Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Cleft palate, Short... OMIM:259775
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Abnormal renal corticomedullary differentiation, Oligohydramnios... OMIM:616733
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Hydronephrosis, Rectal prolapse, Thyroid lymphangiectasia, Hypoplast... OMIM:235510
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... OMIM:206920
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Clinodactyly, Long philtrum, Hydronephrosis, Tapered finger, Tented upper lip vermilion, Hand cle... OMIM:618975
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent fora... ORPHA:980
Lujan-Fryns Syndrome
Brachydactyly, High palate, Short philtrum, Abnormality of the dentition, Atrial septal defect, M... ORPHA:776
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Narrow mouth, Short philtrum, Bifid ureter, Aortic regurgitation, Ureteral duplication, Atrial se... OMIM:601347
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hydronephrosis, High, narrow palate, Macroglossia, Micrognathia, Ulnar deviation of the hand or o... OMIM:214100
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar hypoplasia, Clinodactyly of the 5th finger, Scoliosis, Partial absence of cerebellar v... ORPHA:329224
Trisomy 18
Abnormal hip bone morphology, Hydronephrosis, Abnormal rib morphology, Spina bifida, Ventricular ... ORPHA:3380
Kabuki Syndrome 2
Broad nasal tip, Micrognathia, Atrioventricular canal defect, Cleft palate, Hip dislocation, Brac... OMIM:300867
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the lungs, Severe short st... ORPHA:2635
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal t... ORPHA:295
Basel-Vanagaite-Smirin-Yosef Syndrome
Clinodactyly, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerate... ORPHA:464738
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, High palate, Broad alveolar ridges, Delayed eruption of teeth, Patent ductus arter... ORPHA:2863
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Short neck, Intrauterine growth retardation, Patent ductus arteriosus... OMIM:612938
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... ORPHA:93316
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, In... ORPHA:3405
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Intrauterine growth retardation, Patent ductus arteriosus, ... ORPHA:1972
Kleefstra Syndrome
Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow,... ORPHA:261494
Fontaine Progeroid Syndrome
Long philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, Microdontia, High, narrow pala... OMIM:612289
Restrictive Dermopathy 1
Premature rupture of membranes, Micrognathia, Narrow mouth, Intrauterine growth retardation, Pate... OMIM:275210
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Microgna... ORPHA:1913
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Broad nasal tip, Delayed ossification of carpal bones, Cleft upper lip, Tapered f... OMIM:239300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, Overhanging nasal tip, Hydronephrosis, High, narrow palate, Scoliosis, Dysphagia, ... OMIM:618494
Alpha-Mannosidosis, Infantile Form
Widely spaced teeth, Macroglossia, Recurrent urinary tract infections, Mandibular prognathia, Mit... ORPHA:309282
Distal Monosomy 7Q36
Symphalangism affecting the phalanges of the hand, Short neck, Bulbous nose, Non-midline cleft li... ORPHA:1636
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Sandal gap, Clinodactyly of the 5th fing... ORPHA:2515
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Acitretin/Etretinate Embryopathy
High palate, Hypoplastic nasal septum, Anteverted nares, Median cleft palate, Conotruncal defect,... ORPHA:40366
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Micrognathia, Scoliosis, Ventricular septal defect, Thin upper lip ve... ORPHA:404440
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia,... ORPHA:3032
Craniofacial Microsomia
Block vertebrae, Vertebral hypoplasia, Maxillozygomatic hypoplasia, Micrognathia, Multicystic kid... OMIM:164210
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Short philtrum, Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Aminoaciduria OMIM:603585
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Growth delay, Abnormal heart morphology, Short stature, Recurrent respirato... OMIM:617744
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Depressed nasal bridge, Postaxial hand polydactyly... ORPHA:83473
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hydrops fetalis, Hypoplastic scapulae, Hypoplasia of ... OMIM:200600
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Atrial septal defect, Tapered finger, Short phalanx of finger, Pectus excavatum, Lo... OMIM:613458
Trisomy 4P
Abnormal palate morphology, Short neck, Abnormality of the dentition, Radial club hand, Carious t... ORPHA:1738
Tetralogy Of Fallot
Brachydactyly, Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th fing... ORPHA:3303
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Aortic regurgitation, Intrauterine growth retardation, Adducted thumb,... OMIM:616603
Yunis-Varon Syndrome
Clinodactyly, Absent sternal ossification, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasi... OMIM:216340
Tetrasomy 5P
High palate, Short neck, Long philtrum, Congestive heart failure, Cerebellar hypoplasia, Clinodac... ORPHA:3309
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Horseshoe kidney, Bulbous nose, Unilateral cleft palate, Unilateral cleft lip... OMIM:619103
Mgat2-Cdg
Brachydactyly, Kyphosis, Patent ductus arteriosus, Arrhythmia, Hydrops fetalis, Gastroesophageal ... ORPHA:79329
Zechi-Ceide Syndrome
Cleft upper lip, Underdeveloped nasal alae, Sandal gap, Oligodontia, Wide nasal bridge, Short dis... OMIM:612916
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Short neck, Abnormality of epiphysis morphology, Patent ductus arterio... ORPHA:1842
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
20Q13.33 Microdeletion Syndrome
Hematochezia, Thin vermilion border, Sacral dimple, Abnormality of limb bone morphology, Bulbous ... ORPHA:261311
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Bifid uvula, Abnormal penis morphology, Severe short sta... ORPHA:2461
Fetal Akinesia Deformation Sequence
Absent palmar crease, Intrauterine growth retardation, Intestinal hypoplasia, Micrognathia, Dandy... ORPHA:994
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Hydronephrosis, Telangiectasia of the skin, Multicystic kidney d... ORPHA:2092
Mental Retardation, Buenos Aires Type
High palate, Atrial septal defect, Clinodactyly of the 5th finger, Carious teeth, Wide nasal brid... OMIM:249630
Coffin-Siris Syndrome 5
Short philtrum, Intrauterine growth retardation, Atrial septal defect, Sandal gap, Cerebellar hyp... OMIM:616938
Martsolf Syndrome 1