Gene Summary

Name:
intraflagellar transport 140
Synonyms:
Tce5,  Wdtc2

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.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

7 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 71 images

Human diseases caused by Ift140 mutations

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

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

The table below shows human diseases associated to Ift140 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ift140 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Polydactyly, Abnormal hip bone morphology, Syndact... ORPHA:294975
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Cleft palate, Double outlet right ventr... OMIM:231060
Conotruncal Heart Malformations
Coarctation of aorta, Postaxial polydactyly, Complete atrioventricular canal defect, Double outle... OMIM:217095
Heterotaxy, Visceral, 4, Autosomal
Midline liver, Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defe... OMIM:613751
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Asplenia, Cholestasis, Pulmonary hypo... OMIM:615415
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Right Atrial Isomerism
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Tetralogy of F... OMIM:208530
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Abnormality of the upper lim... ORPHA:1106
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate... ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Short thumb, Atrial septal defect, Ventricular septal defect, Ectopic k... ORPHA:401935
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Ventricular septal defect, Unilateral renal agenesis, Cleft palat... OMIM:601355
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... OMIM:606217
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Hepatic fibrosis, Syndactyly, Esophageal varix, Por... OMIM:616589
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short digit, Pseudocoarctation of the aorta, Bicuspid aortic valve, Sho... ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Brachydactyly, Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Sh... OMIM:604381
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Right aortic arch,... OMIM:613854
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Thoracic aortic aneurysm... OMIM:619657
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Ventricula... ORPHA:93267
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, In... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Anal atresia, Short neck, Abnormality of the vertebral col... ORPHA:2345
Frontonasal Dysplasia 1
Median cleft palate, Camptodactyly, Low-set ears, Conductive hearing impairment, Pericallosal lip... OMIM:136760
Hypoglossia With Situs Inversus
Situs inversus totalis, High palate, Asplenia, Polysplenia, Narrow mouth, Microglossia, Hypodontia OMIM:612776
Carpenter Syndrome 1
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot po... OMIM:201000
Basal Cell Nevus Syndrome 1
Scoliosis, Polydactyly, Vertebral wedging, Cleft palate, Sprengel anomaly, Supernumerary ribs, Ir... OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Anal atresia, Intestinal malrotation, Low-set, posteriorly rotated ears, Hydroceph... ORPHA:2166
Ehlers-Danlos Syndrome, Classic-Like, 2
Inguinal hernia, Hip dislocation, Generalized joint laxity, Osteoarthritis, Shoulder dislocation,... OMIM:618000
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Severe short stature, Short thorax, Short neck, Hydrops fetalis,... ORPHA:93298
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Smooth philtrum, Thin upper lip vermilion, Cleft palate OMIM:611867
Isolated Osteopoikilosis
Abnormal long bone morphology, Abnormality of limb bone, Abnormal heart morphology, Cleft palate,... ORPHA:166119
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Severe short stature, Short thorax, Short neck, Hydrops fetalis,... ORPHA:93299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Multiple prenatal fractures, Cleft palate, Decreased skull ossificatio... OMIM:616897
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Mesocardia, Dextrocardia, Asplenia, Atrioventricular canal defect, Polysp... OMIM:605376
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Aarskog-Scott Syndrome
Camptodactyly of finger, Inguinal hernia, Cleft palate, Single transverse palmar crease, Low-set,... ORPHA:915
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Camptodactyly of finger, Short distal phalanx of finger, Toe synd... ORPHA:1327
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Scoliosis, Inguinal hernia, Atrial septal defect, Cleft palate, Long fingers, Sprengel anomaly, S... OMIM:213980
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Rhizomelia, M... OMIM:215140
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... OMIM:617205
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Cleft palate, Hearing impair... OMIM:305620
Kagami-Ogata Syndrome
Inguinal hernia, Long clavicles, Ventricular septal defect, Atrial septal defect, Thin ribs, Long... OMIM:608149
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Intestinal malrotation, Atrial situs ... ORPHA:244
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Pulmonic stenosis, Absence of t... OMIM:618780
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Inguinal hernia, Thin ribs, Narrow palate, Supernumerary ribs, Mitral valve prolapse, ... OMIM:182212
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Rhizomelia, Thin ribs, Broad long bones, Cleft pa... OMIM:228520
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Hypoplastic aortic arch, Left... OMIM:306955
Atelosteogenesis, Type I
Clubbing, Long clavicles, Short metatarsal, Rhizomelia, Cleft palate, Knee dislocation, Fibular a... OMIM:108720
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Hypoplas... OMIM:619702
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Left Isomerism, Congenitally corrected transposition of the great arterie... OMIM:618300
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Abnormal heart morphology, Toe syndactyly,... ORPHA:93323
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Long thorax, Generalized lipodystrophy, Congenital gene... OMIM:608154
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... OMIM:208540
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Triploidy
Macroglossia, Intestinal malrotation, Low-set, posteriorly rotated ears, Short neck, Meningocele,... ORPHA:3376
Melnick-Needles Syndrome
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal cortical bone morphology, An... ORPHA:2484
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Decreased skull ossification, Short neck, Metaphyseal widening, Ulnar ... OMIM:263210
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Inguinal hernia, Long clavicles, Rocker bottom foot, Intercrural pter... OMIM:265000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the lungs, Short thumb, Proximal placement ... ORPHA:1120
Trisomy 13
Scoliosis, Ventricular septal defect, Atrial septal defect, Cleft palate, Abnormality of the midd... ORPHA:3378
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Optic disc hypoplasia, Ventricular septal defect, Atrial septal d... ORPHA:79345
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Anisospondyly, Abnormal heart morphology, Cleft palate, Bowing of the legs, Sev... ORPHA:1865
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Pulmonary artery atresia, Coarctation of aorta, Hypoplastic lef... ORPHA:3426
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricul... OMIM:217085
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Abnormality of the humerus, Severe short-limb dwarfism, Aplasia/... ORPHA:1263
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip, Renal agenesis, Renal hy... OMIM:236110
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Cleft palate, ... ORPHA:2839
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Scoliosis, Short thumb, Cleft palate, Hearing impairment, Carpal synosto... ORPHA:90652
Acrocardiofacial Syndrome
Split foot, Anal atresia, Camptodactyly of finger, Coarctation of aorta, Hallux valgus, Ventricul... ORPHA:2008
Frontometaphyseal Dysplasia
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Bifid uvula, Short metatarsal... ORPHA:1826
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Renal cy... OMIM:617478
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Atelectasis, Ventricular septal defect, Median cleft lip and palate, Short toe, ... OMIM:269860
Achondrogenesis, Type Ib
Hypoplastic ilia, Breech presentation, Inguinal hernia, Absent or minimally ossified vertebral bo... OMIM:600972
Czeizel-Losonci Syndrome
Single transverse palmar crease, Prominent antitragus, Low-set, posteriorly rotated ears, Spina b... ORPHA:2437
Trisomy 1Q
Increased nuchal translucency, Camptodactyly of finger, Anal atresia, Low-set ears, Short thorax,... ORPHA:261344
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Scoliosis, Inguinal hernia, Protruding ear, Mitral valve prolapse, Aplas... ORPHA:2462
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Severe short stature, Abnormality of bone miner... ORPHA:932
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Heterotaxy, Visceral, 5, Autosomal
Double inlet left ventricle, Asplenia, Ventricular septal defect, Atrial septal defect, Atriovent... OMIM:270100
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Low-set ears, Absent radius, Short neck, Mis... OMIM:251230
Mosaic Trisomy 9
Camptodactyly of finger, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal def... ORPHA:99776
Verheij Syndrome
Hip dislocation, Renal cyst, Ventricular septal defect, Cleft palate, Long philtrum, Short 5th fi... OMIM:615583
Martsolf Syndrome 1
Cardiac arrest, Inguinal hernia, Cardiomyopathy, Short toe, Thoracic scoliosis, Short phalanx of ... OMIM:212720
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Ventricular septal defect, Narrow palate, Thoracic scoliosis, Stiff neck... OMIM:617022
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Right aortic arch with mirror image branching, Ventricular septal defect, At... OMIM:601186
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Tetralogy of Fallot, Patellar dislocation, Cleft palate, Broad thumb,... ORPHA:3320
Lujan-Fryns Syndrome
Camptodactyly of finger, Scoliosis, Pectus excavatum, High palate, Protruding ear, Atrial septal ... ORPHA:776
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Asplenia, Pulmonic stenosis, Ventricular septal defect, Atrioventricular canal def... OMIM:619123
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Low-set ears, Spinal cord compression, Short neck, Abnormal hip bone morphology... ORPHA:2522
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Hydrops fetalis, Malar flattening, Short ribs, Polyhydramnios, Advanc... OMIM:215045
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Ventricular septal defect, Tetralogy of Fallot, Multiple renal cysts, Renal hypop... ORPHA:1166
Microphthalmia, Syndromic 12
Retrognathia, Ventricular septal defect, Pulmonary hypoplasia, Microphthalmia, Neonatal death, Cl... OMIM:615524
20P12.3 Microdeletion Syndrome
Thickened helices, Wolff-Parkinson-White syndrome, Atrial septal defect, Malar flattening, Short ... ORPHA:261295
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Anal atresia, Intestinal malrotation, Hypoplastic left heart, Asplenia, Ventricul... ORPHA:210122
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, High palate, Low-set ears, Overlapping toe, 11 pairs of ribs, Wide anterior fontane... OMIM:201170
Oculodentodigital Dysplasia
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal diaphysis morphology, Ventri... ORPHA:2710
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fr... OMIM:156510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Generalized joint laxity, Ventricular septal defect, Tetralogy of Fallot, Atriov... ORPHA:508498
Scimitar Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Left superior vena cava draini... ORPHA:185
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... OMIM:274000
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Scoliosis, Preaxial foot polydactyly, Cleft p... OMIM:252100
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Pectus excavatum, Low-set ears, External ear malfor... ORPHA:2673
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Inguinal hernia, Spina bifi... OMIM:211960
Truncus Arteriosus
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... ORPHA:3384
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defect, Mesomelic/rhizom... ORPHA:1354
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Low-set ears, Short neck, Thoracolumbar scoliosis, Cardiomyopathy, Short stature, Ac... OMIM:616549
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Prominence of the premaxilla, Proximal placement of thumb, Spina ... OMIM:304050
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Mosaic Trisomy 20
Clinodactyly, Down-sloping shoulders, Dysplastic tricuspid valve, Scoliosis, Vertebral fusion, Li... ORPHA:1724
Stickler Syndrome Type 1
Osteoarthritis, Abnormal epiphysis morphology, Cleft palate, Platyspondyly, Abnormality of verteb... ORPHA:90653
Multicentric Carpotarsal Osteolysis Syndrome
Ankle pain, Metatarsal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Ulnar dev... OMIM:166300
Meckel Syndrome, Type 8
Encephalocele, Low-set ears, Polydactyly, Short neck, Occipital encephalocele, Microphthalmia, Cl... OMIM:613885
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Long clavicles, Ventricular septal defect, Atrial septal defect, Short tibia, Abnormal... ORPHA:96334
Cohen Syndrome
Delayed puberty, Scoliosis, Narrow palm, Ventricular septal defect, Slender toe, Mitral valve pro... ORPHA:193
Kniest Dysplasia
Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Cleft palate, Aplasi... ORPHA:485
Focal Dermal Hypoplasia
Camptodactyly of finger, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Ventricular... ORPHA:2092
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, C1-C2 subluxation, Thin bony cortex, Wide cranial su... OMIM:259600
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Cleft palate, Metaphyseal irregularity, Brachydactyly, Non... OMIM:269250
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Horsesh... ORPHA:2538
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... OMIM:144750
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Atrial septal ... ORPHA:79113
Mulibrey Nanism
Single transverse palmar crease, Hypoplastic frontal sinuses, Hydrops fetalis, Intrauterine growt... OMIM:253250
Renal Tubular Dysgenesis
Renotubular dysgenesis, Tetralogy of Fallot, Pulmonary hypoplasia, Multiple renal cysts, Nephropa... ORPHA:3033
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, High palate, Low-set ears, Dysplastic pulmonary valve, Anteriorly pla... OMIM:612863
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Short neck, Ventricular septal defect, Abnormal pinna m... OMIM:214300
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Complete duplication of the middle phalanx of the 3rd finger, Short hallu... ORPHA:363417
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Scoliosis, Mandibular prognathia, Amelogenesis imperfecta, S... OMIM:601216
Atelosteogenesis, Type Iii
Scoliosis, Tombstone-shaped proximal phalanges, Short neck, Widened distal phalanges, Flat acetab... OMIM:108721
Mucopolysaccharidosis, Type Vii
Scoliosis, Cardiomyopathy, Chronic bronchitis, Hearing impairment, Short neck, Hydrocephalus, Rec... OMIM:253220
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... OMIM:311895
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Ventricular septal defect, Mesoaxial foot po... OMIM:146510
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Widely spaced teeth, Cleft palate, Thick upper lip ... OMIM:617616
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Pectus excavatum, Abnormality of t... ORPHA:1101
Meacham Syndrome
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch, Tetralogy of Fallo... OMIM:608978
Cohen Syndrome
Delayed puberty, Lumbar hyperlordosis, Narrow palm, Short metatarsal, Short metacarpal, Short sta... OMIM:216550
Distal Duplication 14Q
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus, Abnormality of the ... ORPHA:1705
Nephronophthisis 16
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Pulmonic ste... OMIM:615382
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Unicoronal synostosis, Cleft palate, Bifid tongue, Hypoplastic pelvis, L... OMIM:616300
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Pycnodysostosis
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... ORPHA:763
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Bronchiectasis, Right aortic arch OMIM:617577
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Recurre... ORPHA:99050
Achondrogenesis, Type Ii
Horizontal ribs, Abnormally large globe, Edema, Hydrops fetalis, Short ribs, Polyhydramnios, Disp... OMIM:200610
Cenani-Lenz Syndrome
Oligodactyly, Scoliosis, Hip dislocation, Short thumb, Protruding ear, Hearing impairment, Toe sy... ORPHA:3258
Thomas Syndrome
Hypoplastic left heart, Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Cle... ORPHA:3316
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Cleft palate, Cone-shaped epiphyses of the phala... OMIM:309350
Coffin-Lowry Syndrome
Short distal phalanx of finger, Scoliosis, Protruding ear, Abnormal diaphysis morphology, Abnorma... ORPHA:192
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Rocker bottom foot, Cleft palate, Toe syndact... ORPHA:1692
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... OMIM:206920
Infantile Sialic Acid Storage Disease
High palate, Hydrocephalus, Hydrops fetalis, Osteopenia, Metaphyseal irregularity, Congestive hea... OMIM:269920
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormality of the fifth metatarsal b... OMIM:311300
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Stage 5 chronic kidney disease, Polydactyly, Renal cyst, Renal ... OMIM:615993
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Asplenia, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septa... OMIM:265380
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular ap... OMIM:300373
Campomelic Dysplasia
Scoliosis, Hip dislocation, Shortening of all phalanges of the toes, Thin ribs, Recurrent lower r... OMIM:114290
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, High palate, Low-set, posteriorly rotated ears, Conductive hearing impairment, Apla... ORPHA:1307
Bardet-Biedl Syndrome 19
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Postaxia... OMIM:615996
Lowry-Maclean Syndrome
Inguinal hernia, Atrioventricular canal defect, Cleft palate, Single transverse palmar crease, Hy... ORPHA:2409
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Oligodactyly, Secundum atrial septal defect, Low-set ears, Retrognathia, Decreased fetal movement... OMIM:619758
Apert Syndrome
Chronic otitis media, Bifid uvula, Ventricular septal defect, Cleft palate, Hearing impairment, B... OMIM:101200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... ORPHA:73230
Ulnar Hemimelia
Scoliosis, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar joint, Apla... ORPHA:93320
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Finger syndactyly, Abnormality of the elbow, Short stature, Abnormal rib morphology, P... ORPHA:3268
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Moderate hearing impairment, Short thumb, Osseous finger syndacty... ORPHA:370010
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Scoliosis, Abnormal intestine morphology, Aplasia/Hypoplasia of the lungs, Abnormal... ORPHA:1834
Weill-Marchesani Syndrome 2
Scoliosis, Ventricular septal defect, Short metatarsal, Microspherophakia, Narrow palate, Thin bo... OMIM:608328
Multiple Pterygium Syndrome, X-Linked
Short finger, Low-set ears, Vertebral fusion, Fetal akinesia sequence, Abnormal cervical curvatur... OMIM:312150
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... OMIM:113000
Van Maldergem Syndrome 2
Scoliosis, Inguinal hernia, Hearing impairment, Cutaneous finger syndactyly, Wide cranial sutures... OMIM:615546
Dislocation Of The Hip-Dysmorphism Syndrome
Deviation of finger, Inguinal hernia, Congenital hip dislocation, Abnormality of the knee, Malar ... ORPHA:2412
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Aqueductal stenosis, Pulmonary hypoplasia, Intrauterine growth ... ORPHA:3035
Trisomy 18
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Abnormality of the uppe... ORPHA:3380
Distal Duplication 15Q
Camptodactyly of finger, Pectus excavatum, Anal atresia, Joint stiffness, High palate, Short neck... ORPHA:1707
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Cleft pal... OMIM:304120
Sialidosis Type 2
Inguinal hernia, Hydrops fetalis, Umbilical hernia, Osteoporosis, Short stature, Kyphosis, Hearin... ORPHA:87876
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, Scoliosis, High palate, Mandibular prognathia, Kyphosis, Pectus carinatum, Narr... OMIM:300676
Sweeney-Cox Syndrome
Median cleft palate, Anal atresia, High palate, Short distal phalanx of finger, Asplenia, Bilater... OMIM:617746
Aarskog-Scott Syndrome
Delayed puberty, Prominent umbilicus, Scoliosis, Inguinal hernia, Cleft palate, Short 5th finger,... OMIM:305400
Holoprosencephaly 9
Prominent antihelix, Bilateral cleft lip and palate, Underdeveloped tragus, Hydrocephalus, Malar ... OMIM:610829
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Hearing impairment, Short toe, Accelerated skeletal maturation, Cone-shaped epi... ORPHA:439822
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Occipital encephalocele, Cleft palate, Preaxial hand polydactyly... ORPHA:887
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QTc interval, Scoliosis, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, ... OMIM:170390
Aicardi Syndrome
Delayed puberty, Scoliosis, Butterfly vertebrae, Hip dysplasia, Prominence of the premaxilla, Pro... ORPHA:50
Distal Deletion 19P
Low-set, posteriorly rotated ears, Conductive hearing impairment, Ventricular septal defect, Umbi... ORPHA:96129
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Protruding ear, Short stature, Tapered finger, Short palm, ... ORPHA:85279
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Pulmonary hypoplasia, Finger s... ORPHA:2141
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Bra... OMIM:615982
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Camptodactyly of finger, Asplenia, Cleft palate, Smooth philtrum, Lo... OMIM:249000
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... ORPHA:860
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Right aortic arch, Abnormal left ventricle morphology, Abnormal hand morphol... OMIM:300845
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Ventricular septal defect, Atrial septal defect, Protein-losing enteropathy, Narrow pa... OMIM:235510
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Retrognathia, Esophageal atresia, Duodenal atresia, Low-se... OMIM:619227
Turnpenny-Fry Syndrome
Atrial septal defect, Thoracic kyphoscoliosis, Long fingers, Short sternum, Mitral valve prolapse... OMIM:618371
3C Syndrome
Scoliosis, Inguinal hernia, Hypoplastic left heart, Ventricular septal defect, Atrial septal defe... ORPHA:7
Shashi-Pena Syndrome
Low-set ears, Scoliosis, Retrognathia, Atrial septal defect, Osteoporosis, Posteriorly rotated ea... OMIM:617190
Meier-Gorlin Syndrome 1
Thin ribs, Cleft palate, Hearing impairment, Aplasia/Hypoplasia of the patella, Cutaneous finger ... OMIM:224690
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Long fingers, Pa... OMIM:618316
Marshall-Smith Syndrome
Short distal phalanx of finger, Scoliosis, Large sternal ossification centers, Hip dysplasia, Ven... OMIM:602535
Multiple Pterygium Syndrome, Lethal Type
Short finger, Low-set ears, Vertebral fusion, Fetal akinesia sequence, Abnormal cervical curvatur... OMIM:253290
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi... OMIM:603546
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Multicystic kidney dysplasia, Postaxial hand polydactyly, Preaxial foot poly... ORPHA:2091
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Abnormal metaphysis morphology, Bo... ORPHA:1306
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Conductive hearing impairment, Abnormal form of the vertebral bodies,... ORPHA:93262
Feingold Syndrome 1
Asplenia, Ventricular septal defect, Short thumb, Interrupted aortic arch, Polysplenia, Short toe... OMIM:164280
Camurati-Engelmann Disease, Type 2
Delayed puberty, Lower limb pain, Mitral regurgitation, Thoracolumbar scoliosis, Knee flexion con... OMIM:606631
Van Maldergem Syndrome 1
Scoliosis, Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodact... OMIM:601390
Orofaciodigital Syndrome Xvii
Clinodactyly, Micropenis, Polydactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, High, na... OMIM:617926
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Intrauterine growth... OMIM:608540
Weill-Marchesani Syndrome 1
Scoliosis, Ventricular septal defect, Microspherophakia, Narrow palate, Thin bony cortex, Brachyd... OMIM:277600
Duane-Radial Ray Syndrome
Scoliosis, Short thumb, Ventricular septal defect, Atrial septal defect, Aplasia of metacarpal bo... OMIM:607323
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Flexion contracture of finger, Single transverse palmar crease, Diastasis recti,... ORPHA:254528
Cerebrocostomandibular Syndrome
Tracheomalacia, Conductive hearing impairment, Spina bifida, Hydranencephaly, Myelomeningocele, M... ORPHA:1393
Vacterl With Hydrocephalus
Inguinal hernia, Hip dislocation, Microtia, third degree, Single umbilical artery, Hypoplasia of ... ORPHA:3412
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate, Omphalocele, Postaxial hand polydac... ORPHA:945
Pseudodiastrophic Dysplasia
Scoliosis, Malar flattening, Rhizomelia, Omphalocele, Platyspondyly, Phalangeal dislocation, Tali... ORPHA:85174
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... OMIM:620056
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Frontal encephalocele, Atrial septal defect, Intrauterine growth retardation, Abnor... ORPHA:521308
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Coarctation of aorta, Right aortic arch OMIM:140850
Diabetic Embryopathy
Spinal dysraphism, Abnormal sacrum morphology, Low-set, posteriorly rotated ears, Aplasia/Hypopla... ORPHA:1926
Stankiewicz-Isidor Syndrome
Micropenis, Short thumb, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus,... OMIM:617516
Multiple Synostoses Syndrome 3
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... OMIM:612961
Emanuel Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Anal atresia, High palate, ... OMIM:609029
Heme Oxygenase 1 Deficiency
Proteinuria, Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Cervical lymphadenopathy, H... OMIM:614034
Holoprosencephaly 7
Median cleft palate, Bilateral microphthalmos, Hydrocephalus, Median cleft lip and palate, Unilat... OMIM:610828
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Pectus excavatum, Spina bif... ORPHA:3219
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Low-set ears, Genu varum, Short thorax, Metaphyseal cupping, Mala... ORPHA:85166
Myhre Syndrome
Inguinal hernia, Bifid uvula, Cleft palate, Hearing impairment, Brachydactyly, Severe short statu... ORPHA:2588
Chromosome 10Q26 Deletion Syndrome
Protruding ear, Atrial septal defect, Toe syndactyly, Single transverse palmar crease, Short neck... OMIM:609625
Joubert Syndrome 18
Camptodactyly, Renal cyst, Horseshoe kidney, Ventricular septal defect, Postaxial polydactyly, Tr... OMIM:614815
Maxillonasal Dysplasia
Short distal phalanx of finger, Scoliosis, Mandibular prognathia, Cleft palate, Vertebral cleftin... ORPHA:1248
Lateral Meningocele Syndrome
Scoliosis, Inguinal hernia, Ventricular septal defect, Cleft palate, Keloids, Conductive hearing ... OMIM:130720
Diastrophic Dysplasia
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joint dislocation... ORPHA:628
Split-Hand/Foot Malformation 3
Camptodactyly, High palate, Abnormal pinna morphology, Cleft palate, Microretrognathia, Hypoplasi... OMIM:246560
Frontorhiny
Encephalocele, Congenital conductive hearing impairment, Camptodactyly of finger, Scoliosis, Lumb... ORPHA:391474
C Syndrome
Postaxial foot polydactyly, Scoliosis, Hip dislocation, Ulnar deviation of finger, High palate, V... OMIM:211750
Chromosome 9P Deletion Syndrome
Dermatoglyphic variants, Prominent antihelix, Scoliosis, Inguinal hernia, Ventricular septal defe... OMIM:158170
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Hip dysplasia, Bifid uvula, Tet... OMIM:607872
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... OMIM:619902
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Gm1 Gangliosidosis
Camptodactyly of finger, Scoliosis, Inguinal hernia, Abnormal diaphysis morphology, Ventricular s... ORPHA:354
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Scoliosis, Short metatarsal, Hearing impairment, Accelerated skeletal mat... OMIM:101800
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Grayish enamel, Scoliosis, Inguinal hernia, Large elbow, Cervical subluxatio... OMIM:253000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Ventricular septal defect, Fl... OMIM:143095
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Low-set, posteriorly rotated ears, Pulm... ORPHA:1908
Achondrogenesis, Type Ia
Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Short neck, Pulmonary... OMIM:200600
Van Den Ende-Gupta Syndrome
Protruding ear, Thin ribs, Cleft palate, Overfolded helix, Joint contracture of the hand, Camptod... OMIM:600920
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Atrial septal defect, Ventricular septal... ORPHA:261330
Stormorken Syndrome
Subarachnoid hemorrhage, Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Hematuria, Short... OMIM:185070
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Low-set ears, Scoliosis, Anterior encephalocele, Ventricular septal defect, Ho... OMIM:601357
Baller-Gerold Syndrome
Bicoronal synostosis, Oligodactyly, Scoliosis, Bifid uvula, Aplasia of metacarpal bones, Aphalang... OMIM:218600
Pseudotrisomy 13 Syndrome
Encephalocele, Postaxial foot polydactyly, Dextrocardia, Anal atresia, Low-set ears, Ventricular ... OMIM:264480
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,... OMIM:617927
Charge Syndrome
Delayed puberty, Secundum atrial septal defect, Scoliosis, Short thumb, Tetralogy of Fallot, Vent... OMIM:214800
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Low-set ears, Ventricular septal defect, Atrial septal defect, Sh... OMIM:614261
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia, Ankyloglossia, Slender long bone, Flared metaphysis, Br... OMIM:602361
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cle... ORPHA:2473
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectop... ORPHA:2476
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Atrial septal defe... ORPHA:1209
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Scoliosis, Respiratory tract infection, Tapered finger, Long fingers, 2-3 toe syndac... OMIM:218000
Myhre Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Hearing impairment, Short toe, Con... OMIM:139210
Hydrolethalus
Low-set, posteriorly rotated ears, Low-set ears, Retrognathia, Bifid uvula, Hydrocephalus, Polyhy... ORPHA:2189
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Scoliosis, Short neck, Polyhydramnios, Short stature, Cleft pa... ORPHA:1394
Cardioacrofacial Dysplasia 1
Long thorax, Postaxial polydactyly, Atrioventricular canal defect, Complete atrioventricular cana... OMIM:619142
Distal Xq28 Microduplication Syndrome
High palate, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema, Metatarsus a... ORPHA:293939
Rubinstein-Taybi Syndrome 1
Scoliosis, Hypoplastic left heart, Short thumb, Polydactyly, Ventricular septal defect, Atrial se... OMIM:180849
Dysostosis, Stanescu Type
Macroglossia, Increased bone mineral density, Pectus excavatum, Scoliosis, Persistent open anteri... ORPHA:1798
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Micropeni... ORPHA:2326
Lateral Meningocele Syndrome
Prominent metopic ridge, Scoliosis, Inguinal hernia, Ventricular septal defect, Conductive hearin... ORPHA:2789
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Low-set ears, Lateral clavicle hook, Post... OMIM:617895
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Aplasia/Hypoplasia of the lungs, Abnormal cortical bone morph... ORPHA:2635
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hip dislocation, Hydrocephalus, Abnormality of the vertebral column, Malar flattening, Coxa valga... OMIM:109120
Bartsocas-Papas Syndrome 1
Oligodactyly, Inguinal hernia, Short thumb, Cleft palate, Cupped ear, Popliteal pterygium, Patent... OMIM:263650
Cleidocranial Dysplasia 2
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... OMIM:620099
Ehlers-Danlos Syndrome, Classic Type, 1
Pectus excavatum, Narrow maxilla, Inguinal hernia, Bruising susceptibility, Lop ear, Hyperextensi... OMIM:130000
Apert Syndrome
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Hydrocephalus, Finger syndactyly,... ORPHA:87
Aorta Coarctation
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... ORPHA:1457
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Hip dysplasia, Micrognathia, Fused cervical vertebrae, Mild postnat... ORPHA:530983
Emanuel Syndrome
Tooth malposition, Bifid uvula, Atrial septal defect, Ventricular septal defect, Submucous cleft ... ORPHA:96170
Acrodysostosis
Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpal, Short sta... ORPHA:950
Andersen-Tawil Syndrome
Prolonged QTc interval, Scoliosis, Abnormal T-wave, Torsade de pointes, Palpitations, 2-3 toe syn... ORPHA:37553
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Abnormality of ... ORPHA:1529
Marfan Syndrome
Scoliosis, Microspherophakia, Spondylolisthesis, Tricuspid regurgitation, Narrow palate, Pneumoth... OMIM:154700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Low-set ears, Hip dislocation, Protruding ear, Hyperextensibility at wrists, Increas... ORPHA:481152
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal defect, Ventri... OMIM:249670
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Increased susceptibility to fractures, Mitral va... ORPHA:371428
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis, Short stature, Hypoplasia of the maxilla ORPHA:2776
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Conductive hearing impairment, Short thumb, Short neck, Ventricular septal ... OMIM:609053
Yunis-Varon Syndrome
Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiomyop... ORPHA:3472
Neu-Laxova Syndrome 2
High palate, Scoliosis, Low-set ears, Decreased fetal movement, Edema, Short neck, Spina bifida, ... OMIM:616038
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Short stature... OMIM:613005
Acropectorovertebral Dysplasia
Camptodactyly of finger, Short distal phalanx of finger, Pectus excavatum, Spina bifida, Finger s... ORPHA:957
Metatropic Dysplasia
Scoliosis, Fetal akinesia sequence, Relatively short spine, Anisospondyly, Enlarged joints, Flare... OMIM:156530
Limb Body Wall Complex
Amniotic constriction ring, Ventricular septal defect, Atrial septal defect, Abnormal heart morph... ORPHA:2369
Codas Syndrome
Scoliosis, Generalized joint laxity, Proximal placement of thumb, Lumbar scoliosis, Ventricular s... OMIM:600373
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Cervicomedullary schisis, Conductive hearing impairment, Short neck, Abnormality of li... OMIM:118100
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Scoliosis, Osteolytic defects of the distal phalanges of the hand... OMIM:601812
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Short stature, Broad thumb, Short... ORPHA:2662
Jackson-Weiss Syndrome
Broad metatarsal, Abnormality of fibula morphology, Short metatarsal, Mandibular prognathia, Prea... ORPHA:1540
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Cleft pa... ORPHA:949
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Short distal phalanx of finger, Agenesis of permanent teeth, Polydac... OMIM:614091
Velocardiofacial Syndrome
Pulmonary artery atresia, Open mouth, Right aortic arch with mirror image branching, Tetralogy of... OMIM:192430
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Mandibu... ORPHA:2790
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Scoliosis, Generalized joint laxity, Protruding ear, Atrial septal defect, Joint dislocation, Cle... OMIM:601776
Cleidocranial Dysplasia
Chronic otitis media, Scoliosis, Cleft palate, Hearing impairment, Supernumerary tooth, Decreased... ORPHA:1452
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
3Mc Syndrome 1
Ventricular septal defect, Atrial septal defect, Cleft palate, Hearing impairment, Short 5th fing... OMIM:257920
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Fryns Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Mu... ORPHA:2059
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Anteriorly placed anus, Bifid uvula, Ventricular septal defect, Atrial septal defec... OMIM:617159
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Polydactyly, Abnormal heart morphology, Cleft palate, Single transverse palmar c... OMIM:247200
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Anal atresia, Short stature, Short... ORPHA:1436
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Mandibular prognathia, Cone-shaped epiphyses... ORPHA:397973
Fryns Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Ventricular septal defe... OMIM:229850
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Neonatal Marfan Syndrome
Tricuspid regurgitation, Long fingers, Mitral valve prolapse, Mitral regurgitation, Adducted thum... ORPHA:284979
Pentalogy Of Cantrell
Encephalocele, Scoliosis, Ventricular septal defect, Atrial septal defect, Abnormal sternum morph... ORPHA:1335
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Abnormal renal tubule morphology, Renal insuffic... ORPHA:1909
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Oligodactyly, Occipital encephalocele, Humeroradial synostosis, Arachnodactyly OMIM:614416
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida oc... ORPHA:64754
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Cleft palate, Hearing impairment, Broad thumb, ... ORPHA:794
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus OMIM:618302
Cooper-Jabs Syndrome
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Anteriorly placed anus, Low-set... ORPHA:1488
Melorheostosis
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... ORPHA:2485
Pallister-Hall Syndrome
Oligodactyly, Inguinal hernia, Hip dislocation, Bifid uvula, Mesoaxial polydactyly, Ventricular s... ORPHA:672
Osteoglophonic Dysplasia
Camptodactyly of finger, Inguinal hernia, Short thumb, Short metatarsal, Rhizomelia, Broad thumb,... OMIM:166250
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormal metacarpal morphology, Cleft palate, Glossoptosis... ORPHA:3104
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Abnormal cortical bone morphology, Atrial septal defect, Hydrocephalus,... OMIM:614886
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Conductive hearing impairment, Hydr... ORPHA:207
Fibrochondrogenesis
Camptodactyly of finger, Low-set ears, Abnormal metaphysis morphology, Abnormal diaphysis morphol... ORPHA:2021
Pseudoaminopterin Syndrome
High palate, Clinodactyly of the 5th toe, Asplenia, Short thumb, Horseshoe kidney, Overlapping to... ORPHA:221120
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Hallermann-Streiff Syndrome
Scoliosis, Thin ribs, Abnormality of the hand, Narrow palate, Supernumerary tooth, Recurrent resp... OMIM:234100
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, High palate, Hydrocephalus, Finger syndactyly, Syndact... OMIM:101600
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Grayish enamel, Scoliosis, Inguinal hernia, Hip dysplasia, Cervical subluxat... OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent respiratory infections, Short distal phalanx of finger, Pectus excavatum, High palate, ... OMIM:300534
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Syndactyly, Short statu... ORPHA:1445
Carpenter Syndrome
Polydactyly, Finger syndactyly, Syndactyly, Polysplenia, Preaxial foot polydactyly, Toe syndactyl... ORPHA:65759
Alagille Syndrome 2
Proteinuria, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Wormian bones, Omphalocele, Delayed eruption of teeth, ... OMIM:614450
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Scoliosis, Osteolysis, Abnormal metaphysis morphology, Inflammation ... ORPHA:324964
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Cleft palate, Bicuspid aort... OMIM:616367
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Microphthalmia, Cleft palate, Abnormal thorax ... OMIM:164180
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Phaver Syndrome
Camptodactyly of finger, Short thumb, Ventricular septal defect, Broad thumb, Overfolded helix, T... ORPHA:2876
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Pectus excavatum, High palate, Low-set ears, Ventricular septal defect, ... OMIM:309520
Down Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defe... OMIM:190685
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Aplasia/Hypoplasia of the lungs, Abnormal cortical bone morpholog... ORPHA:2204
Trisomy 20P
Camptodactyly of finger, Scoliosis, Inguinal hernia, Protruding ear, Preaxial hand polydactyly, B... ORPHA:261318
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Deformed humerus, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia... ORPHA:2975
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Nonimmune hydrops fetalis, Retrognathia, Thin ribs, Short stature, Slender long... OMIM:618265
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Low-set ears, Ventral hernia, Posteriorly rotated ears, Short stature, Omphalocele... OMIM:618529
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Malabsorption, Rhizomelia... ORPHA:175
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Thoracic hypoplasia, Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Pulmonary hypopl... OMIM:613124
22Q11.2 Deletion Syndrome
Chronic otitis media, Abnormal pulmonary valve morphology, Scoliosis, Inguinal hernia, Atelectasi... ORPHA:567
Donnai-Barrow Syndrome
Low-set ears, Ventricular septal defect, Malar flattening, Umbilical hernia, Wide anterior fontan... OMIM:222448
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Hand oligodactyly, Micrognathia OMIM:172880
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Global systolic dysfunction, F... OMIM:606842
Igg4-Related Aortitis
Abnormal common carotid artery morphology, Hydronephrosis, Hypereosinophilia, Thoracic aortic ane... ORPHA:449400
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Ventricular septal defect, Tetralogy of Fallot, Atrial septal de... ORPHA:2970
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Renal cyst, Postaxial polydac... OMIM:614175
Meckel Syndrome
Situs inversus totalis, Preaxial hand polydactyly, Postaxial foot polydactyly, Aplasia/Hypoplasia... ORPHA:564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Inguinal hernia, Flattened epiphysis, Advanced ossification of carpal bones, Cleft pal... OMIM:618363
Geroderma Osteodysplasticum
Camptodactyly, Severe short stature, Irregular vertebral endplates, Malar flattening, Osteoporosi... OMIM:231070
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Small thenar eminence, Stage 5 chronic kidney disease, Rectal atres... OMIM:613390
Fibrodysplasia Ossificans Progressiva
Scoliosis, Hallux valgus, Conductive hearing impairment, Abnormality of the first metatarsal bone... OMIM:135100
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Camptodactyly of finger, Fetal akinesia sequence, Thin ribs, Rocker bottom foot,... OMIM:208150
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Rhizomelia, Accelerated skeletal maturation, Malar flattening, Pulmonary hyp... ORPHA:50945
Orofaciodigital Syndrome Type 10
Oligodactyly, Retrognathia, Short neck, Metatarsal synostosis, Polysyndactyly of hallux, Preaxial... ORPHA:2756
Feingold Syndrome Type 1
Abnormality of the kidney, Short thumb, Horseshoe kidney, Interrupted aortic arch, Abnormal heart... ORPHA:391641
Arthrogryposis, Distal, Type 1C
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... OMIM:619110
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Ventricular septal defe... OMIM:134780
Alg9-Cdg
Prominent metopic ridge, Bifid uvula, Ventricular septal defect, Atrial septal defect, Rhizomelia... ORPHA:79328
Cardiospondylocarpofacial Syndrome
Scoliosis, Ventricular septal defect, Atrial septal defect, Carpal synostosis, Muscular ventricul... OMIM:157800
Frontometaphyseal Dysplasia 2
Delayed puberty, Scoliosis, Bifid uvula, Short metatarsal, Cleft palate, Broad thumb, Patent fora... OMIM:617137
Cerebrofacioarticular Syndrome
Tracheomalacia, Camptodactyly, Conductive hearing impairment, Anteriorly placed anus, Pulmonic st... ORPHA:314679
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly,... OMIM:607361
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Conductive hearing impairment, Perica... ORPHA:306542
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Scoliosis, Enlarged thorax, Joint stiffness, Inguinal hernia, S... ORPHA:584
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Cardiomyopathy, Ventricular hypertrophy, Hyperplasia of the maxilla, Hypertrophic card... OMIM:300280
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Low-set ears, Short neck, Abnormal pinna morphology, A... ORPHA:178303
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal def... ORPHA:373
You-Hoover-Fong Syndrome
Coarctation of aorta, Accessory oral frenulum, Cleft palate, Double aortic arch, Clinodactyly, Va... OMIM:616954
Anophthalmia Plus Syndrome
Deviation of finger, Low-set, posteriorly rotated ears, Bilateral cleft lip and palate, Spina bif... ORPHA:1104
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... DECIPHER:46
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Low-set ears, Preaxial polydactyly, Postaxial polydactyly, Short neck, Shor... OMIM:616546
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Mis... ORPHA:66637
Neu-Laxova Syndrome 1
Fetal akinesia sequence, Ventricular septal defect, Calcaneovalgus deformity, Rocker bottom foot,... OMIM:256520
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Scoliosis, Protruding ear, Ventricular septal defect, Tricuspid regurgit... ORPHA:261337
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia, Wide anterior fontanel, Posteriorly rotated ears, Om... ORPHA:2143
Say Syndrome
Proximal renal tubular acidosis, Ulnar deviation of the 3rd finger, Short distal phalanx of finge... OMIM:181180
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Abnormal ... ORPHA:971
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Bilateral talipes equinovarus, Atrial septal defect, Ventricular septal ... OMIM:618142
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Diastasis recti, Coat hanger sign of ribs, Ventricular septal defect, Umbili... ORPHA:254534
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Scoliosis, Hypoplastic radial head, Iliac horns,... OMIM:161200
Bardet-Biedl Syndrome 17
Situs inversus totalis, Postaxial foot polydactyly, Dextrocardia, Micropenis, Stage 5 chronic kid... OMIM:615994
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Meningocele, Intrauterine growth retardation, Microphthalmia, Anencep... OMIM:603194
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Arteriovenous malformation, Abnormal hip bone morphology, Abnormal aortic arch morpho... ORPHA:1110
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Hypoplasia of teeth, Fifth finger distal phalanx clinodactyly, Broad long bones, Sh... OMIM:257850
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Cleft palate, Talipes ... OMIM:618469
Phocomelia, Schinzel Type
Protruding ear, Cleft palate, Fibular aplasia, Radial bowing, Hypoplasia of the radius, Foot olig... ORPHA:2879
22Q11.2 Duplication Syndrome
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Hypoplastic left heart, Ventricular septal defe... ORPHA:1727
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Inguinal hernia, Cleft palate, Low-set, posteriorly rotated e... ORPHA:2311
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Coarctation of aorta, Righ... ORPHA:980
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hearing impairment, Flattened femoral head, Flared iliac wing, Beaking of vertebr... ORPHA:79255
Gm1-Gangliosidosis, Type I
Scoliosis, Inguinal hernia, Joint stiffness, Severe short stature, Short neck, Hydrops fetalis, H... OMIM:230500
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Ventricular septal defect, Atrial septal defect, Pulmonary hypoplasia, ... OMIM:145420
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Renal cyst, Bile duct proliferation, Cleft palate, Postaxial hand pol... OMIM:611561
Holoprosencephaly
Abnormal pulmonary valve morphology, Scoliosis, Aplasia/Hypoplasia of the lungs, Tetralogy of Fal... ORPHA:2162
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Mitral atresia, Patent duc... ORPHA:2248
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Hip dislocation, Short thumb, Proximal placement of thumb, Ventricular septal de... OMIM:613458
Mucolipidosis Type Iii
Craniofacial hyperostosis, Reduced bone mineral density, Inguinal hernia, Joint stiffness, Hypopl... ORPHA:577
Spondylospinal Thoracic Dysostosis
Short thorax, Pulmonary hypoplasia, Multiple pterygia, Micrognathia, Arthrogryposis multiplex con... OMIM:601809
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... OMIM:183600
Camurati-Engelmann Disease
Delayed puberty, Scoliosis, Abnormality of the humerus, Abnormal diaphysis morphology, Hearing im... ORPHA:1328
Fanconi Anemia
Scoliosis, Hip dislocation, Aplasia/Hypoplasia of the uvula, Tetralogy of Fallot, Atrial septal d... ORPHA:84
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip, Recurrent aspi... OMIM:300484
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Renal cyst, Ventricular septal defect, Syndactyly, Duplication of phalanx o... OMIM:263630
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Mandibular prognathia, Short stature, Macrotia, Hypoplasia of the maxilla ORPHA:93950
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Perimembranous ventricular ... OMIM:600001
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Hydrocephalus, Umbilical hernia, Mandibular prognathia, Abnormal heart morpholog... OMIM:601499
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Renal dysplasia, Abnormal biliary tra... ORPHA:3032
Frank-Ter Haar Syndrome
Camptodactyly of finger, Scoliosis, Osteolysis, Joint stiffness, Protruding ear, Inguinal hernia,... ORPHA:137834
Meier-Gorlin Syndrome 4
Patellar aplasia, Low-set ears, Lateral clavicle hook, Intrauterine growth retardation, Genu recu... OMIM:613804
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia involving the meta... OMIM:268310
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Mitral stenosis, Inguinal hernia, Hip dysplasia, Anterior wedging of L1, Car... OMIM:253200
Classical Ehlers-Danlos Syndrome
Scoliosis, Hip dislocation, Generalized joint laxity, Inguinal hernia, Abnormality of the temporo... ORPHA:287
Jawad Syndrome
Hallux valgus, Retrognathia, Postaxial polydactyly, Short middle phalanx of the 5th finger, Thora... OMIM:251255
Iniencephaly
Rhizomelia, Rocker bottom foot, Absent vertebra, Spina bifida, Hydrocephalus, Mandibular aplasia,... ORPHA:63259
Neu-Laxova Syndrome
Rickets, Scoliosis, Bifid uvula, Osteomalacia, Cleft palate, Large hands, Spina bifida, Osteoporo... ORPHA:2671
16P13.11 Microduplication Syndrome
Hand polydactyly, Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Tetralog... ORPHA:261243
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Ventricular septal defect, Hypoplastic right heart, Cleft palate, Hearing impairment, ... OMIM:616894
Peters-Plus Syndrome
Scoliosis, Square pelvis bone, Protruding ear, Proximal placement of thumb, Ventricular septal de... OMIM:261540
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Abnormality of the ear, Abnormality of the vertebral column, Micr... OMIM:600776
Nephronophthisis 20
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... OMIM:617271
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Low-set, posteriorly rotated ears, Short neck, Cleft palate... ORPHA:1703
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Hydrocephalus, Malar flattening, Retinal telangiectasia, Mandibular prognathia, Opt... OMIM:620157
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... OMIM:616730
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Short stature, Short mi... OMIM:309620
Distal Deletion 15Q
Short distal phalanx of finger, Hip dislocation, Hypoplastic left heart, Cleft palate, Bifid tong... ORPHA:1596
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Ventricular septal defect, Hydrocephalus, Anophthalmia, Holoprosencephaly, Mi... ORPHA:77298
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Inguinal hernia, Ventricular septal defect, Cleft palate, Spondylolisthesis, Carpal sy... OMIM:178110
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Congenital sensorineural hearing impairment, Short neck ORPHA:3456
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Hallux valgus, Joint stiffness, Short thumb, Short metatarsal, G... OMIM:151200
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... ORPHA:295
Fetal Encasement Syndrome
Decreased fetal movement, Tetralogy of Fallot, Lower limb undergrowth, Omphalocele, Bilateral tri... OMIM:613630
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Aplasia/Hypoplasia of the lungs, Malar flattening, Abnormal antihelix morpholog... ORPHA:2145
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, High palate, Short distal phalanx of finger, Atrial septal defect, Cystic renal dyspl... OMIM:220500
Mucopolysaccharidosis Type 4
Grayish enamel, Scoliosis, Joint dislocation, Hearing impairment, Carious teeth, Delayed skeletal... ORPHA:582
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Tracheomalacia, Ventricular septal defect, Hydrocephalus, Tracheoesopha... ORPHA:268249
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antitragus morphology, Conductive hearing impairment, Short neck, Aplasia/Hypoplasia of ... ORPHA:3082
Braddock-Carey Syndrome 1
Clinodactyly, Camptodactyly, Anteriorly placed anus, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Chromosome 17P13.1 Deletion Syndrome
Scoliosis, Hip dysplasia, Proximal placement of thumb, Hallux valgus, Short neck, Spina bifida, H... OMIM:613776
Miller-Dieker Syndrome
Polyhydramnios, Sacral dimple, Omphalocele, Growth delay, Clinodactyly of the 5th finger ORPHA:531
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Low-set ears, Intrauterine growth retardation, Short stature, Growth delay, Talipe... OMIM:617333
Stickler Syndrome
Chronic otitis media, Scoliosis, Hip dislocation, Abnormal diaphysis morphology, Osteoarthritis, ... ORPHA:828
Smith-Magenis Syndrome
Scoliosis, Malar flattening, Mandibular prognathia, Short stature, Abnormal heart morphology, Hea... OMIM:182290
Klippel-Trénaunay Syndrome
Edema, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Abnormal tricuspid valve morpho... ORPHA:90308
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Short distal phalanx of finger, Conductive hearing impairment, Umbilica... ORPHA:2095
Nager Syndrome
Low-set, posteriorly rotated ears, Joint stiffness, Phocomelia, Atresia of the external auditory ... ORPHA:245
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Flat acetabular roof, Bow... ORPHA:1801
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, Narrow mouth, 2-3 toe syndactyly, Clinodactyly OMIM:615984
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Microtia, third degree, Bifid uvula, Cleft palate, Hearing impairment, A... ORPHA:2554
Femoral-Facial Syndrome
Scoliosis, Inguinal hernia, Hip dysplasia, Preaxial foot polydactyly, Cleft palate, Sprengel anom... ORPHA:1988
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... ORPHA:3400
Focal Dermal Hypoplasia