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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

2 Images

Immunophenotyping

Panel A FCS file(s)

2 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
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Congenital malformation of the gre... ORPHA:294975
Robinow Syndrome
Scoliosis, Dental crowding, Short distal phalanx of finger, Oral cleft, Hemivertebrae, Triangular... ORPHA:97360
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Posterior rib fusion, Hydroureter, Pulmonary... OMIM:265380
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Abno... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Renal agenesis, Short neck, Ventricular septal defect, Underdeveloped nasal a... ORPHA:2516
Cardioacrofacial Dysplasia 2
Genu valgum, Short philtrum, Postaxial hand polydactyly, Narrow chest, Atrioventricular canal def... OMIM:619143
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Hemivertebrae, Intrauterine growth retardation, ... OMIM:220210
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw, High... OMIM:609029
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Decreased fibular diameter, Cardiomegaly, Multiple rib fractures... OMIM:616897
Ellis-Van Creveld Syndrome
Narrow chest, Natal tooth, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Epispadias... OMIM:225500
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper l... OMIM:231060
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteri... ORPHA:96170
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow gr... OMIM:617925
Meier-Gorlin Syndrome 7
Scoliosis, Narrow mouth, Choanal atresia, Bowing of the legs, Vesicoureteral reflux, High palate,... OMIM:617063
Trisomy 13
Scoliosis, Hydrops fetalis, Narrow chest, Patent ductus arteriosus, Bilateral single transverse p... ORPHA:3378
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Patent ductus arteriosus, Recurrent urinary tract infections, Thin ... ORPHA:363444
Recombinant Chromosome 8 Syndrome
Scoliosis, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Postnatal growth... OMIM:179613
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... ORPHA:210122
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis morphology, Ve... ORPHA:1388
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Atrioventricular canal defect, Complete atrioventricular canal defec... OMIM:619142
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Postaxial hand polydactyly, Atrial septal defect,... OMIM:264480
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Short ribs, Renal dysplasia, M... OMIM:241800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Hydrops fetalis, Narrow chest, Hamartoma of tongue, Intestinal ... OMIM:263520
Chime Syndrome
Short palm, Aplastic clavicle, Abnormality of the kidney, Abnormality of dental morphology, Cleft... ORPHA:3474
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Talipes equinovarus, Hydrops fetalis, Narrow palate, Short ne... OMIM:617022
19P13.12 Microdeletion Syndrome
Scoliosis, Thin vermilion border, Sandal gap, Toe clinodactyly, Aplasia/Hypoplasia of the cerebel... ORPHA:254346
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Hypoplasia of the ulna, Mesomeli... OMIM:228940
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Narrow mouth, Patent ductus arteriosus, Increased nuchal translu... ORPHA:261344
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Cardiomegaly, T... OMIM:253250
Mosaic Trisomy 9
Scoliosis, Polyhydramnios, Hydrops fetalis, Bulbous nose, Elbow dislocation, Intestinal malrotati... ORPHA:99776
Mosaic Trisomy 1
Polyhydramnios, Oral cleft, Increased nuchal translucency, Long toe, Complete duplication of thum... ORPHA:1692
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped na... OMIM:134780
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Recurrent urinary tract infections, Choanal atresia, San... ORPHA:261330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Scoliosis, Atrial septal defect, Patent foramen ovale, Overlapping toe, Vent... OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Pelvic kidney, Mic... ORPHA:508498
3C Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Postnatal growth retarda... ORPHA:7
Sandestig-Stefanova Syndrome
Rocker bottom foot, Convex nasal ridge, Camptodactyly, Bilateral single transverse palmar creases... OMIM:618804
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, P... OMIM:228520
Turnpenny-Fry Syndrome
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, Patent ductus... OMIM:618371
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... ORPHA:90652
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Hadziselimovic Syndrome
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... OMIM:612946
Acrocardiofacial Syndrome
Split hand, Abnormality of the metacarpal bones, Hallux valgus, Truncus arteriosus, Anal atresia,... ORPHA:2008
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Scoliosis, Atrial septal defect, Ventricular septal defect, Growth delay... OMIM:301030
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Long philtrum, Aplasia of the 1st metacarpal, Short nose, Dental crowding, Micrognathi... ORPHA:476126
Down Syndrome
Atlantoaxial instability, Thickened nuchal skin fold, Macroglossia, Broad palm, Complete atrioven... OMIM:190685
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Achondrogenesis Type 1B
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Disproportionate short stature, Short ... ORPHA:93298
Catel-Manzke Syndrome
Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd finger, Postnatal grow... OMIM:616145
Fryns Syndrome
Polyhydramnios, Narrow chest, Intestinal malrotation, Short distal phalanx of finger, Vesicourete... ORPHA:2059
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Tooth ... ORPHA:1166
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Short s... OMIM:611867
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger... OMIM:614091
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Malar fla... ORPHA:1919
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Atrial septal defect, Narrow mouth, Aortic regurgitation, Ventricular sep... OMIM:614114
Greenberg Dysplasia
Polyhydramnios, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow che... OMIM:215140
Kagami-Ogata Syndrome
Polyhydramnios, Patent ductus arteriosus, Premature birth, Pulmonary arterial hypertension, Micro... OMIM:608149
Arterial Tortuosity Syndrome
Long philtrum, Hiatus hernia, Ventricular hypertrophy, Ischemic stroke, Aortic tortuosity, Aortic... OMIM:208050
Periventricular Nodular Heterotopia
Scoliosis, Aortic regurgitation, Abnormal heart valve morphology, Gastroesophageal reflux, Patent... ORPHA:98892
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat aceta... OMIM:184260
Achondrogenesis Type 1A
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Short neck, Short nos... ORPHA:93299
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Fetal akinesia sequence, Short finger, Vertebral fusion, Abnormal cervical curvat... OMIM:312150
Cardiac-Valvular Ehlers-Danlos Syndrome
Bulbous nose, Dental crowding, Pulmonary insufficiency, Tricuspid regurgitation, Sandal gap, Aort... ORPHA:230851
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the cerebellum, Increased nuchal translucency, Micrognathia... ORPHA:1052
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Platyspondyly, Atrial septal defect, Polyhydramnios, Sh... ORPHA:2655
Marden-Walker Syndrome
Scoliosis, Narrow mouth, Abnormal sternum morphology, Camptodactyly, Postnatal growth retardation... OMIM:248700
Mosaic Trisomy 16
Short forearm, Patent ductus arteriosus, Abnormal thorax morphology, Premature birth, Short thumb... ORPHA:1708
Zttk Syndrome
Scoliosis, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Patent ductus arteri... OMIM:617140
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Tricuspid reg... OMIM:616589
Distal Monosomy 19P13.3
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Umbilical hernia, Long toe, T... ORPHA:96129
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Growth de... OMIM:612561
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Shield chest, Elbow dislocation, Tri... OMIM:143095
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Scoliosis, Prenatal maternal abnormality, Abnormal sternum morphology, Abnormal left ventricular ... ORPHA:91387
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Atrial septal defect, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Bilateral renal... OMIM:618845
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Seckel Syndrome 9
Polyhydramnios, Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Recurrent ur... OMIM:616777
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Narrow chest, Abno... ORPHA:1354
9Q31.1Q31.3 Microdeletion Syndrome
Broad nasal tip, Aortic regurgitation, Renovascular hypertension, Mandibular prognathia, Small ha... ORPHA:401923
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hypoplastic right h... OMIM:616894
Hurler Syndrome
Flared iliac wing, Short clavicles, Short neck, Cardiomyopathy, Depressed nasal bridge, Recurrent... OMIM:607014
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Choanal stenosis, Short neck, Renal cyst, Clinodactyly of the 5th finger, Anteverte... OMIM:236500
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin... OMIM:617866
2P15P16.1 Microdeletion Syndrome
Scoliosis, Polyhydramnios, Narrow mouth, Enlarged thorax, Bilateral single transverse palmar crea... ORPHA:261349
Scheie Syndrome
Genu valgum, Aortic regurgitation, Mandibular prognathia, Spondylolisthesis, Aortic valve stenosi... OMIM:607016
Tarp Syndrome
Scoliosis, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Micrognathia, Hypopl... ORPHA:2886
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Broad nasal tip, Elbow dislocation, Rhizomelia, Cleft palate, Flattened e... ORPHA:166016
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... ORPHA:79094
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, Abnormal thorax morphology, Congestive heart failure, ... OMIM:269920
Monosomy 13Q34
Postaxial hand polydactyly, Broad nasal tip, Hematochezia, Growth delay, Epistaxis, Pulmonic sten... ORPHA:96168
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia OMIM:261800
Feingold Syndrome Type 1
Gastrointestinal atresia, Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple ... ORPHA:391641
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Horizontal ribs, S... OMIM:613091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Narrow chest, Hypoplastic ischia, Bowing of t... ORPHA:1865
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Pelvic kidney, Micrognathia, Agenesis of pulmonary ve... OMIM:601186
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Convex nasal ridge, Thickened nuchal skin fold, Short neck, Underdeveloped nasal ... OMIM:263210
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Mucolipidosis Iii Gamma
Scoliosis, Genu valgum, Hyperlordosis, Short neck, Aortic regurgitation, Flared iliac wing, Pectu... OMIM:252605
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Mandibular prognathia, High palate, Abnormality of the nasa... OMIM:303600
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Narrow chest, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Patent du... OMIM:269860
Tonne-Kalscheuer Syndrome
Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology, Micropenis, Dy... OMIM:300978
Diaphanospondylodysostosis
Increased nuchal translucency, Unossified sacrum, Short neck, Micrognathia, Vertebral segmentatio... OMIM:608022
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventric... ORPHA:1909
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, Coarctation of aorta, 2-3 toe synda... OMIM:600987
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Narrow chest, Short distal phalanx of finger, Abnormality of the... ORPHA:85166
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Aortic regurgitation, Pectus carinatum, Mandibular prognathia,... OMIM:609008
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Abnormal left ventricular function, Duplicated collecting system, Double outlet r... OMIM:301056
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Natal tooth, Patent ductus arteriosus, Postaxial polydactyly, Horizontal ribs, Flat... OMIM:616300
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Intellectual Disability, Wolff Type
Scoliosis, Camptodactyly of finger, Broad thumb, Bulbous nose, Microretrognathia, Large hands, No... ORPHA:3080
Keutel Syndrome
Epiphyseal stippling, Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Short... OMIM:245150
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... ORPHA:3426
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Oligohydramnios, Enlarged kidney, Cystic renal dyspla... OMIM:615415
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Triphalangeal thumb, Me... ORPHA:3434
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Fetal akinesia sequence, Short finger, Vertebral fusion, Abnormal cervical curvat... OMIM:253290
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Mucopolysaccharidosis, Type Vii
Scoliosis, Hydrops fetalis, Postnatal growth retardation, Anterior beaking of lumbar vertebrae, M... OMIM:253220
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... OMIM:236110
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, C... OMIM:612474
Autosomal Recessive Amelia
Polyhydramnios, Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft... ORPHA:1027
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Renal hypopla... ORPHA:958
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Unilateral renal agenesis, Esophageal atresia, Choanal atresi... OMIM:619227
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Micrognathia, Short di... OMIM:311895
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, Sh... OMIM:224410
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Natal tooth, Patent ductus arteriosus, Choanal atresia, Hemive... OMIM:146510
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue no... OMIM:277170
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Narrow chest, Branchial cyst, Patent ductus arteriosus, Bilateral ren... ORPHA:508488
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Narrow chest, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Short thumb, ... OMIM:619148
Osteogenesis Imperfecta
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Abnormality of long bone morphology,... ORPHA:666
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Patent ductus arterio... ORPHA:2970
Marfanoid Hypermobility Syndrome
Scoliosis, Aortic regurgitation, Pectus carinatum, Pectus excavatum, High, narrow palate, High pa... OMIM:154750
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... OMIM:217085
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Broad long bone diaphyses, Flared iliac wing, Beaking of vertebral bodies T12-L3... ORPHA:79255
Distal Tetrasomy 15Q
Scoliosis, Abnormal sternum morphology, Camptodactyly, Patent ductus arteriosus, High palate, Mic... ORPHA:314588
Hydrolethalus Syndrome 1
Polyhydramnios, Micrognathia, Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:236680
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Mandibular pro... OMIM:248950
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... ORPHA:2538
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Camptodactyly, Hypoplastic fronta... OMIM:136760
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Renal hypoplasia, Growth delay, Hemivertebrae, Thin upper l... OMIM:615583
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Wide nas... ORPHA:3304
Gm1 Gangliosidosis
Scoliosis, Hydrops fetalis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Premat... ORPHA:354
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Finger syndactyly, Ventricular sept... ORPHA:1908
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Narrow chest, Preaxial polydactyly, Cerebe... OMIM:616546
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Patent ductus arteriosus, Absent radius, Premature birth, Triphalangeal thumb, Microgn... OMIM:154400
Chromosome 18Q Deletion Syndrome
Scoliosis, Downturned corners of mouth, Choanal stenosis, Mandibular prognathia, Patent ductus ar... OMIM:601808
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... ORPHA:392
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal ... OMIM:617895
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Preaxial hand polydactyly, Maternal diabetes, Wide mouth, Non-midline cleft ... ORPHA:2549
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Abnormality of the vertebral column, Abnormal heart morpholo... OMIM:239800
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis OMIM:274210
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Broad palm, Abnormal heart morphology, Short columella, Oral cleft, Acromelia, Cleft upper lip, S... OMIM:233430
Achondrogenesis
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Short neck, Short nos... ORPHA:932
Atelosteogenesis Type I
Scoliosis, Polyhydramnios, Narrow chest, Neonatal short-trunk short stature, Abnormality of fibul... ORPHA:1190
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-li... ORPHA:1263
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Short nose, Ventricular septal defect, High palate, ... ORPHA:261120
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Polydactyly, Patent ductus arteriosus, Pelvic kidney, Micropenis, Hallux valgus, Pectu... ORPHA:464306
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Deep palmar crease, Hypoplasia ... OMIM:311900
Duane-Radial Ray Syndrome
Scoliosis, Crossed fused renal ectopia, Choanal stenosis, Choanal atresia, Sandal gap, Absent rad... OMIM:607323
Distal Monosomy 15Q
Low 1-minute APGAR score, Patent ductus arteriosus, Postnatal growth retardation, Short distal ph... ORPHA:1596
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Preaxial hand polydactyly, Short neck, Abnormality of epiphysis morpho... ORPHA:3098
Femoral-Facial Syndrome
Scoliosis, Oral cleft, Aplasia/Hypoplasia of the tibia, Abnormality of pelvic girdle bone morphol... ORPHA:1988
8P23.1 Microdeletion Syndrome
Thin vermilion border, Broad thumb, Enlarged thorax, Broad hallux phalanx, Patent ductus arterios... ORPHA:251071
Phaver Syndrome
Camptodactyly of finger, Abnormality of the ribs, Broad thumb, Radioulnar synostosis, Myelomening... ORPHA:2876
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... ORPHA:2437
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Downturned corners of mouth, Aortic regurgitation, Everted lower lip ve... ORPHA:96147
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Yunis-Varon Syndrome
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Tapered toe, Aplasia/Hypoplasia of the di... OMIM:216340
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Preaxial hand polydactyly, Abnormal t... ORPHA:1120
Recombinant 8 Syndrome
Scoliosis, Downturned corners of mouth, Abnormal sternum morphology, Patent ductus arteriosus, Bi... ORPHA:96167
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Narrow chest, Natal tooth, Premature birth, Aplastic clavicle, M... ORPHA:50945
Smith-Lemli-Opitz Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Polyhydramnio... ORPHA:818
Mullegama-Klein-Martinez Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Micrognathia, Coarctation of... OMIM:301022
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Sacr... OMIM:617516
Vacterl/Vater Association
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Premature birth, Abn... ORPHA:887
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Proportionate short stature, Short distal phalanx o... ORPHA:79345
Maternal Phenylketonuria
Long philtrum, Abnormal renal morphology, Deviated nasal septum, Anteverted nares, Abnormal heart... ORPHA:2209
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, ... OMIM:617877
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Polyhydramnios, Patent ductus arteriosus, Birth length less than 3rd percentile, Pelvi... ORPHA:464311
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, S... OMIM:215045
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Polyhydramnios, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, P... OMIM:300373
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Growth delay, Anosmia, Patent ductus ... OMIM:147770
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Scoliosis, Atrial septal defect, Bulbous nose, Vent... OMIM:244300
Atelosteogenesis Type Ii
Polyhydramnios, Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Campt... ORPHA:56304
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Disorganization, Mouse, Homolog Of
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... OMIM:223200
Yunis-Varon Syndrome
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Slender long bones with narrow diaphyses,... ORPHA:3472
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Hydrops fetalis, Abnormal heart valve morphology, Beaking of vertebral... OMIM:230500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Single ventricle, Short clavicles, R... OMIM:308050
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Narrow chest, Hypoplastic pelvis, Polydactyly, Wide mo... OMIM:612731
Temtamy Syndrome
Long philtrum, Convex nasal ridge, Hypoplasia of teeth, Aortic regurgitation, Dental crowding, Sh... OMIM:218340
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Patent ductus arteriosus, Tricuspid regurgitation, Increased nuchal translucency, Flat... OMIM:618870
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pulmonary art... OMIM:601559
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Polyhydramnios, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest... ORPHA:96334
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Toe syndactyly, Horseshoe kidney, Aortic regurgitation, Mitral atresia,... ORPHA:140952
Chromosome 3Pter-P25 Deletion Syndrome
Prominent nasal bridge, Long philtrum, Thin vermilion border, Abnormal renal morphology, Downturn... OMIM:613792
Cerebrocostomandibular Syndrome
Scoliosis, Polyhydramnios, Anomalous tracheal cartilage, Congenital hip dislocation, Patent ductu... OMIM:117650
Galloway-Mowat Syndrome 7
Partial duplication of thumb phalanx, IgA deposition in the glomerulus, High palate, Diffuse mesa... OMIM:618348
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Intrauterine... OMIM:608540
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abno... ORPHA:2919
22Q11.2 Deletion Syndrome
Scoliosis, Polyhydramnios, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Bulbou... ORPHA:567
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Pectus excavatum, Abnormal vert... ORPHA:915
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Downturne... ORPHA:1600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Lateral clavicle hook, Narrow chest, Ventricular septal defect, Preaxial polydact... OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Pulmonary artery stenosis, Patent foramen ovale, Periorbital edema, Micrognathia, Bro... OMIM:613177
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Polyhydramnios, Thin vermilion border, Open mouth, Patent ductus arter... OMIM:614080
Bohring-Opitz Syndrome
Polyhydramnios, Narrow palate, Camptodactyly, Intestinal malrotation, Vesicoureteral reflux, Micr... OMIM:605039
Pentalogy Of Cantrell
Scoliosis, Abnormality of tibia morphology, Atrial septal defect, Renal agenesis, Ventricular sep... ORPHA:1335
Hunter-Macdonald Syndrome
Scoliosis, Camptodactyly, Patent ductus arteriosus, Pseudoepiphyses, Metatarsus adductus, Mitral ... OMIM:611962
Fryns Syndrome
Polyhydramnios, Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Short thum... OMIM:229850
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Narrow chest, Polydactyly, Patent ductus arteriosus, Horizontal ... OMIM:613610
X-Linked Intellectual Disability, Siderius Type
Scoliosis, Preaxial hand polydactyly, Large hands, Oral cleft, Cleft upper lip, Broad nasal tip ORPHA:85287
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent ver... OMIM:200610
Pagod Syndrome
Abnormal clavicle morphology, Spina bifida, Arrhythmia, Situs inversus totalis, Abnormal aortic m... ORPHA:991
Serkal Syndrome
Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect,... ORPHA:139466
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Morphological abnormality of the gastrointestinal tract, Abnormal sternum morphology, ... ORPHA:2990
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Patent ductus... ORPHA:2712
Orofaciodigital Syndrome Type 6
Central Y-shaped metacarpal, Tongue nodules, Hamartoma of tongue, Lobulated tongue, High palate, ... ORPHA:2754
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... ORPHA:251076
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, Umbilical hernia, Shoulder dislocation, High, narrow p... ORPHA:2181
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Talipes equinovarus, Scapular winging, Dental crowding, Micrognathia, Fetal akinesia sequence, Ca... OMIM:617468
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Lobulat... OMIM:249000
Endocrine-Cerebroosteodysplasia
Shield chest, Narrow chest, Polydactyly, Natal tooth, Postaxial polydactyly, Sandal gap, Ulnar de... OMIM:612651
Filippi Syndrome
Short philtrum, Thin vermilion border, Abnormality of dental morphology, Finger clinodactyly, Ven... OMIM:272440
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Micropenis, Wide nose, Recurrent ... OMIM:300209
Autosomal Recessive Robinow Syndrome
Open bite, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Br... ORPHA:1507
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Hydrops fetalis, Gastrointestinal hemorrhage, Internal hemorrhag... ORPHA:90308
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Pyloric stenosis, Pat... ORPHA:435638
Trichohepatoenteric Syndrome 1
Polyhydramnios, Long philtrum, Narrow mouth, Aortic regurgitation, Ventricular septal defect, Vil... OMIM:222470
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Short philtrum, Abnormality of the ribs, Short neck,... ORPHA:93267
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia... OMIM:618164
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Maternal diabetes, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Premature birth... ORPHA:1208
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Underdeveloped nasal alae, Chordee, Polydactyly, Recurrent urinary tract infections, S... ORPHA:268261
Koolen-De Vries Syndrome
Scoliosis, Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Patent ductus arteriosus, R... OMIM:610443
Carpenter Syndrome 1
Scoliosis, Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arteriosus, Metatarsus ad... OMIM:201000
Smith-Lemli-Opitz Syndrome
Hip subluxation, Epiphyseal stippling, Dental crowding, Pyloric stenosis, Intestinal malrotation,... OMIM:270400
Microcephaly-Micromelia Syndrome
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Short neck, Narrow mouth, Oligohydramn... OMIM:251230
Caudal Regression Sequence
Scoliosis, Talipes equinovarus, Maternal diabetes, Renal agenesis, Arnold-Chiari malformation, Ab... ORPHA:3027
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Short stature, I... ORPHA:1937
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... ORPHA:85438
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Narrow palate, Short phalanx of finger, Bro... OMIM:255980
Diamond-Blackfan Anemia 1
Narrow chest, Partial duplication of thumb phalanx, Premature birth, Short thumb, High palate, Sh... OMIM:105650
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Intrauterine growth retardat... ORPHA:2257
Vater/Vacterl Association
Scoliosis, Abnormal sternum morphology, Patent ductus arteriosus, Choanal atresia, Postnatal grow... OMIM:192350
Genitopalatocardiac Syndrome
Scoliosis, Postaxial hand polydactyly, Downturned corners of mouth, Kyphosis, Non-midline cleft l... ORPHA:2075
Thomas Syndrome
Oligohydramnios, Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft pal... ORPHA:3316
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Disproportionate short stature, Abnormal heart valve morphology, Abnormality of the dentition, Ra... OMIM:126190
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, High palate, Advanced ossification... OMIM:618363
Campomelia, Cumming Type
Multiple renal cysts, Hydrops fetalis, Oligohydramnios, Lymphedema, Bowing of the long bones, Abn... ORPHA:1318
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Hypoplastic right heart, Ventricular septal defect, Split foot, Tetralogy of Fallot, Micrognathia OMIM:601348
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Thoracic hypoplasia, Pulmonary hypoplasi... OMIM:613124
Marfan Syndrome
Scoliosis, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgitation, Metatarsus add... OMIM:154700
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... ORPHA:93296
Esophageal Atresia
Scoliosis, Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotrache... ORPHA:1199
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Radioulnar synostosis, Hypoplasti... ORPHA:85201
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Ivic Syndrome
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus ... OMIM:147750
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Patent ductus arteriosus, High palate, Abdominal aortic aneurysm, Protrusio acetabuli,... ORPHA:284984
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Non-midline cleft lip... ORPHA:2725
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral reflux, ... OMIM:618454
Baraitser-Winter Syndrome 1
Long philtrum, Short nose, Anteverted nares, Duplication of phalanx of hallux, Patent ductus arte... OMIM:243310
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Toot... ORPHA:1277
Trisomy 17P
Scoliosis, Narrow mouth, Patent ductus arteriosus, Oral cleft, High palate, Micrognathia, Short n... ORPHA:261290
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Hypoplastic ilia, Short ribs, Umbilica... OMIM:600972
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Postnatal growth retardation, Rectovagina... OMIM:200990
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Deep philtrum, Kyphosis, Intestinal... ORPHA:77300
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Atrial septal defect, Posterior rib fusion, Ventricular septal defect,... OMIM:608406
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Microcolon, Pulmonary artery stenosis, Patent f... OMIM:600001
Mohr Syndrome
Scoliosis, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, M... OMIM:252100
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Overlapping toe, Ventricular septal ... OMIM:617478
Cornelia De Lange Syndrome 1
Downturned corners of mouth, Choanal atresia, Pneumonia, Vesicoureteral reflux, Phocomelia, High ... OMIM:122470
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Morphological abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the lun... ORPHA:1834
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Mucolipidosis Type Ii
Limited wrist movement, Abnormality of long bone morphology, Narrow chest, Pulmonary insufficienc... ORPHA:576
Acromelic Frontonasal Dysostosis
Broad nasal tip, Polydactyly, Preaxial polydactyly, Midline defect of the nose, Retrocerebellar c... OMIM:603671
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Tracheomalacia, Oral cleft, Bifid thoracic vertebrae,... ORPHA:268249
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Renal... ORPHA:75389
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Open mouth, Ventricular septal defec... OMIM:192430
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Thick vermilion border, Tricuspid regurgitation, Short chordae tendineae of... OMIM:314400
Ritscher-Schinzel Syndrome 2
Scoliosis, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camp... OMIM:300963
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Carious teeth, Phalangeal dislocation, Slender long bones with narrow diaphyses, Ovoid... ORPHA:536467
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, Premature birth, ... OMIM:300998
Frank-Ter Haar Syndrome
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Mitra... OMIM:249420
Triploidy
Polyhydramnios, Macroglossia, Short neck, Narrow mouth, Narrow chest, Finger syndactyly, Intestin... ORPHA:3376
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Cutis Laxa, Autosomal Recessive, Type Iic
Hip dysplasia, Long philtrum, Talipes equinovarus, Atrial septal defect, Narrow naris, Broad nasa... OMIM:617402
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Peripheral pulmonary artery stenosis, Metatarsus adductus, Wrist flexi... ORPHA:436003
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, Missing ribs, High palate, Micrognathia, ... OMIM:200980
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallo... OMIM:618624
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Abnormal renal morphology, Abnormal heart ... ORPHA:477817
Microcephaly 13, Primary, Autosomal Recessive
Metaphyseal sclerosis, Cerebellar hypoplasia, Small hand, Short stature, Short foot, Intrauterine... OMIM:616051
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Abnormality of the elbow, Abnormality of the metaphysis, High palate, Micrognathia, El... ORPHA:93359
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Mitral r... OMIM:225320
Alagille Syndrome
Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Delayed puberty, Spina bifi... ORPHA:52
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Dental crowding, Patent ductus arteriosus, Patent foramen ovale, High palate, Short... OMIM:612582
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, Pectus carinatum, Pectus excavatum, Cervi... OMIM:609654
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, Kyphosis, 2-3 toe syndactyl... OMIM:300960
Renal Dysplasia-Limb Defects Syndrome
Thin vermilion border, Narrow mouth, Phocomelia, High palate, Short neck, Micrognathia, Depressed... OMIM:266910
Larsen Syndrome
Scoliosis, Short metatarsal, Elbow dislocation, Spina bifida occulta, Bronchomalacia, Depressed n... OMIM:150250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Patent ductus arteri... ORPHA:457395
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... OMIM:300280
Roifman Syndrome
Downturned corners of mouth, Underdeveloped nasal alae, Postnatal growth retardation, Premature b... OMIM:616651
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Palpitations, Partial diaphragmatic absence of pericardium, Atrial septal de... ORPHA:2847
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epiphyseal stippling, Patent ductus arteriosus, Ulnar deviation of the hand, Metatarsus adductus,... OMIM:214100
Distal Monosomy 10P
Convex nasal ridge, Short neck, Micrognathia, Abnormality of the elbow, Non-midline cleft lip, Bi... ORPHA:1580
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Wolf-Hirschhorn Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the philtrum, Downturned corners ... ORPHA:280
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Broad ribs, Aortic regurgitation, Split hand, Carpal bone hypo... OMIM:252600
20P12.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Broad thumb, Narrow mouth, Wolff-Parkinson-White syndrome, P... ORPHA:261295
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch, Supraumbilical raphe, Bifid sternum OMIM:140850
Neu-Laxova Syndrome 1
Polyhydramnios, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ova... OMIM:256520
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormality of the urinary ... ORPHA:2204
Ellis Van Creveld Syndrome
Thin vermilion border, Narrow chest, Hydroureter, Short distal phalanx of finger, Dextrocardia, A... ORPHA:289
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Subm... OMIM:312870
Tetrasomy 9P
Abnormal dental enamel morphology, Pericarditis, Downturned corners of mouth, Dental crowding, Bu... ORPHA:3310
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect... OMIM:156810
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... ORPHA:2345
Carey-Fineman-Ziter Syndrome
Scoliosis, Broad nasal tip, Anteverted nares, Pierre-Robin sequence, Dysphagia, Growth delay, Gas... OMIM:254940
Opitz-Kaveggia Syndrome
Narrow palate, Broad thumb, Dental crowding, Split hand, Camptodactyly, Abnormal sternum morpholo... OMIM:305450
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Micrognathia, Split hand,... ORPHA:1406
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Intrauterine growth retardation, Neonatal... OMIM:619003
Hennekam Syndrome
Hydrops fetalis, Narrow mouth, Narrow chest, Pericardial effusion, Depressed nasal bridge, Abnorm... ORPHA:2136
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Gas... OMIM:600123
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Long philtrum, Short nose, Downturned corners of mouth, Open mouth, Restrictive cardio... OMIM:615398
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormality of the vertebral column, Cerebellar cyst, Sprengel anomaly, Unilateral r... OMIM:601076
Oculodentodigital Dysplasia
Neurogenic bladder, Aplasia/Hypoplasia of the cerebellum, Carious teeth, Abnormal dental enamel m... ORPHA:2710
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Abnormal aortic morphology, Uret... ORPHA:1926
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Patent ductus arteriosus, Aplasia of the... OMIM:615948
Hurler-Scheie Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, Thick vermilion border, Umbilical hernia, Short statur... OMIM:607015
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Microg... ORPHA:776
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Bulbous nose, Downturned corners of mouth, Open mouth, Patent ductus arteriosus, Short distal pha... OMIM:220500
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, Ventricular septal defect,... ORPHA:84064
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Opitz Gbbb Syndrome, Type Ii
Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary arterial hyperte... OMIM:145410
Hemifacial Microsomia
Branchial anomaly, Patent ductus arteriosus, Hemivertebrae, Vesicoureteral reflux, Arnold-Chiari ... OMIM:164210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Bilater... OMIM:235510
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Man... ORPHA:2511
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Bulbous nose, Ventricular septal defect, Short nos... OMIM:613458
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Narrow mouth, Ventricular septal defect, Mitral regurgitation, Abnorm... ORPHA:83473
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Slen... ORPHA:1486
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Kyphosis, Postaxial polydactyly, Mitral regurgit... OMIM:603387
Even-Plus Syndrome
Atrial septal defect, Short nose, Coronal cleft vertebrae, Depressed nasal ridge, Renal hypoplasi... OMIM:616854
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Polyhydramnios, Narrow chest, Patent ductus arteriosus, Postnatal growth retardation, ... OMIM:213980
Simpson-Golabi-Behmel Syndrome
Scoliosis, Polyhydramnios, Broad thumb, Congenital hip dislocation, Hydroureter, Mandibular progn... ORPHA:373
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Postnatal growth retardation, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, Renal insufficie... OMIM:611209
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Sandal gap, High palate, Depressed nasal bridge, Postaxial hand pol... OMIM:206920
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Edema, Coarctat... ORPHA:101028
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, IgA deposition in the glomerulus, Ventricular septal defect, Focal s... OMIM:616730
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... OMIM:601165
Chromosome 15Q25 Deletion Syndrome
Growth delay, Pectus excavatum, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft ... OMIM:614294
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Short philtrum, Atrial septal defect, Narrow mouth, Aortic regurgitation, Bifid ureter, Bronchiec... OMIM:601347
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Bulbous nose, Open mouth, High, narrow palate, Hip dysplasia, Long philtrum, Gastroeso... OMIM:618494
Sonoda Syndrome
Narrow mouth, Ventricular septal defect, Short stature, High axial triradius, Depressed nasal bridge OMIM:270460
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Depressed nasal tip, Ab... ORPHA:2863
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Ventricular hypertrophy, Narrow mouth, Dental crow... ORPHA:740
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Glutaric aciduria, D-2-hydroxyglutaric aciduria, Micrognathia, Cardiomyopathy OMIM:600721
Neuraminidase Deficiency
Epiphyseal stippling, Hydrops fetalis, Facial edema, Urinary excretion of sialylated oligosacchar... OMIM:256550
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Oligohydramnios, Finger syndactyly, Split hand, Malar flattening,... ORPHA:2145
Acitretin/Etretinate Embryopathy
Anteverted nares, Atrioventricular canal defect, Maternal teratogenic exposure, Abnormality of th... ORPHA:40366
Kniest-Like Dysplasia, Lethal
Polyhydramnios, Narrow mouth, Metaphyseal irregularity, Narrow chest, Patent ductus arteriosus, P... OMIM:245190
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Abnormality of the ribs, Postaxial hand polydacty... ORPHA:474
Kleefstra Syndrome
Scoliosis, Downturned corners of mouth, Mandibular prognathia, Vesicoureteral reflux, Pulmonary a... ORPHA:261494
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Carious teeth, Dental crowding, Camptodactyly, Intestinal malrotation, High palate, Na... OMIM:617602
Suleiman-El-Hattab Syndrome
Long philtrum, Atrial septal defect, Drooling, Downturned corners of mouth, Ventricular septal de... OMIM:618950
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Oligohydramnios, Ventricular septal defect, Lymphedema, At... OMIM:601927
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Cuboid-shaped thoracolumbar vertebral bodies, Pectus carinat... OMIM:249630
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Coffin-Siris Syndrome 5
Short philtrum, Atrial septal defect, Cerebellar hypoplasia, Wide mouth, Thick nasal alae, Sandal... OMIM:616938
Fetal Trimethadione Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Bilateral single transver... ORPHA:1913
Achondrogenesis, Type Ia
Polyhydramnios, Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossific... OMIM:200600
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Polyhydramnios, Narrow chest, Mandibular prognathia, High palate, Long philtrum, Pectus excavatum... OMIM:618975
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Short nose, Pericardial effusion, Kyphosis, Wide mouth, Decreased fetal movement, ... OMIM:608776
Distal Monosomy 7Q36
Short neck, Bulbous nose, Micrognathia, Pectus excavatum, Wide mouth, Symphalangism affecting the... ORPHA:1636
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, Umbilical he... OMIM:612938
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Short toe, Abnormal renal morphology, Broad nasal tip, Downturned corners of mout... OMIM:239300
22Q11.2 Duplication Syndrome
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Micrognathia, Depressed nasal ridg... ORPHA:1727
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Scoliosis, Oligodontia, Dental crowding, Postnatal growth retardation, Patent ... OMIM:619184
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Intestinal malrotation, Multicystic kidney dysplasia, Renal dysp... ORPHA:3032
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Growth delay, Short stature, Recurrent respirato... OMIM:617744
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Recurrent urinary tract infections, Pneumonia, Arnold-Chiari malformation,... ORPHA:309282
Myhre Syndrome
Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gingival cleft, Abn... ORPHA:2588
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Cerebellar vermis hypoplasia, Abnormality of the dentition, Short stat... OMIM:616901
Fontaine Progeroid Syndrome
Scoliosis, Oligodontia, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Tricuspid ... OMIM:612289
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Finger syndactyly, Ventricular sep... ORPHA:2256
Trisomy 18
Narrow palate, Narrow mouth, Choanal atresia, Bilateral single transverse palmar creases, Arnold-... ORPHA:3380
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Clin... OMIM:614261
Tetralogy Of Fallot
Thin vermilion border, Intrauterine growth retardation, Tetralogy of Fallot, Clinodactyly of the ... ORPHA:3303
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Hydroureter, Mandibular prognathia, Natal toot... OMIM:259775
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Broad nasal tip, Polydactyly, Syndactyly, Hypoplasia of the epigl... OMIM:300484
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... ORPHA:1738
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Downturned corners of mouth, Underdeveloped nasal alae, Patent ductus arte... ORPHA:163956
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Short philtrum, Aortic regurgitation, Aminoaciduria, Clinodactyly, Proteinuria OMIM:603585
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Mandibular prognathia, Left superior vena cava draining to coronary sinus, Pulmonary a... ORPHA:464738
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Short columella, Large hands... ORPHA:1770
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Narrow mouth, Natal tooth, Patent ductus arteriosus, Choana... OMIM:275210
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, B... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, B... ORPHA:353277
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Narrow mouth, Slender long bones with narrow diaphyses, Abnormality of the elbow, Prom... ORPHA:536471
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Intrauterine growth retardation, Short stature, Dilated ca... ORPHA:2515
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Scoliosis, Broad thumb, Bulbous nose, Downturned corners of mouth, Patent ductus arteriosus, Pate... ORPHA:329224
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Non-midline cleft lip,... ORPHA:2476
Zechi-Ceide Syndrome
Oligodontia, Short metatarsal, Underdeveloped nasal alae, Cerebellar vermis hypoplasia, Sandal ga... OMIM:612916
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Talipes equinovarus, Thin vermilion border, Atrial septal de... ORPHA:261311
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Dental crowding, Camptodactyly, Patent ductus arteriosus, H... ORPHA:397709
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteri... ORPHA:1972
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Abnormal thumb morphology, Short neck, Severe short-limb dwarfism, Abnormal... ORPHA:1842
Whistling Face Syndrome, Recessive Form
Long philtrum, Talipes equinovarus, Short neck, Narrow mouth, Underdeveloped nasal alae, Microgna... OMIM:277720
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Bulbous nose, Ventricular septal defect, Mandibular prognathia, Recurrent urina... OMIM:619103
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Bell-shaped thorax,... OMIM:611702
Craniofacioskeletal Syndrome
Shield chest, Hypoplastic frontal sinuses, Patent ductus arteriosus, Choanal atresia, Micrognathi... OMIM:300712
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Narrow chest, Abnormal pelvis bone ossification, Abnormality of the metaphysis, ... ORPHA:93271
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retardation, Intrauterine growt... OMIM:616603
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Oral cleft, Aplasia/Hypoplasia of the tibia, Rectovaginal fistula, R... ORPHA:2753
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Micrognathia, Abnormality of the kidney, Genu ... ORPHA:3320
C Syndrome
Scoliosis, Patent ductus arteriosus, High palate, Micrognathia, Dislocated radial head, Postaxial... OMIM:211750
Martsolf Syndrome 1
Short phalanx of finger, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad fingertip, High... OMIM:212720
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short philtrum, Short metatarsal, Downturned corners of mouth... ORPHA:217017
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Intrauterine growth retardation, Hypertr... ORPHA:295
Fetal Akinesia Deformation Sequence
Scoliosis, Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Intestinal hypoplasi... ORPHA:994
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Sacral ... OMIM:608227
Mental Retardation, Autosomal Dominant 23
Scoliosis, Long philtrum, Broad distal phalanx of finger, Hyperlordosis, Drooling, Downturned cor... OMIM:615761
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
Marden-Walker Syndrome
Scoliosis, Narrow mouth, Hydroureter, Dextrocardia, Metatarsus adductus, Epispadias, Renal hypopl... ORPHA:2461
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia, Clinodactyly of the 5th finger, Micrognathia, Depres... ORPHA:1918
Schinzel-Giedion Syndrome
Scoliosis, Choanal stenosis, Camptodactyly, Abnormal thorax morphology, Short distal phalanx of f... ORPHA:798
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Short nose, Anteverted nares, Deep philtrum, Abnormal palat... ORPHA:2701
Loeys-Dietz Syndrome 2
Scoliosis, Generalized arterial tortuosity, Camptodactyly, Abnormal sternum morphology, Patent du... OMIM:610168
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Choanal stenosis, Patent ductus arteriosus, Choanal atre... OMIM:602535
Smith-Magenis Syndrome
Scoliosis, Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Delayed puber... ORPHA:819
Keratoconus Posticus Circumscriptus
Short neck, Growth delay, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbo... OMIM:244600
Kabuki Syndrome 2
Natal tooth, Postnatal growth retardation, High palate, Prominent fingertip pads, Micrognathia, B... OMIM:300867
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Hyperechogenic kidneys, Short nose, Polydactyly, Cleft upper lip, Cle... OMIM:613885
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... ORPHA:353281
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant