Gene: Ift140 MGI:2146906

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Gene Summary

intraflagellar transport 140
Wdtc2,  Tce5

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Forepaw

15 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 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
Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... OMIM:231060
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Upper limb phocomelia, P... ORPHA:294975
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Ectopia of the spleen, Ri... OMIM:613751
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Cholestasis,... OMIM:615415
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Patent ductus arteriosus, Bicuspid aortic valve, C... OMIM:612474
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Abno... ORPHA:401935
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... ORPHA:2516
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis OMIM:274210
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Platyspondyly, Short philtrum, Short neck,... ORPHA:93267
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... OMIM:228940
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Achondrogenesis Type 1B
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Disproportionate short stature, Short n... ORPHA:93298
Greenberg Dysplasia
Polyhydramnios, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow che... OMIM:215140
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Joint hyperfle... ORPHA:915
Achondrogenesis Type 1A
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Hydrops fetalis, Short neck, Long philt... ORPHA:93299
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Scoliosis, Polydactyly, Abnormal sternum morphology, Mandib... OMIM:109400
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... ORPHA:2345
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... ORPHA:228190
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Hydrops fetalis, Short neck, Long philt... ORPHA:932
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... OMIM:616897
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, Polysplenia, Hypodontia, Microglossia, Asplenia, High palate OMIM:612776
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arteriosus, Bic... OMIM:604381
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Sensorin... OMIM:305620
Kagami-Ogata Syndrome
Polyhydramnios, Patent ductus arteriosus, Omphalocele, Premature birth, Pulmonary arterial hypert... OMIM:608149
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sci... OMIM:228520
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosu... OMIM:201000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Narrow mouth, Holoprose... ORPHA:2166
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Polyhydramnios, Craniosynostosis, Narrow chest, Patent ductus art... OMIM:213980
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Narrow chest, Downturned corners of mouth, Mandibular prognathia, Short ... ORPHA:1327
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Camptodactyly, Lipoma of corpus callosum, ... OMIM:136760
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Micrognathia, Vertebral fusion, Dextrocardia, Cleft palate, Microphthalmia, Anophthalmi... OMIM:221950
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... OMIM:616589
Trisomy 13
Scoliosis, Abnormality of the antihelix, Hydrops fetalis, Narrow chest, Patent ductus arteriosus,... ORPHA:3378
Polyhydramnios, Macroglossia, Short neck, Narrow mouth, Narrow chest, Finger syndactyly, Holopros... ORPHA:3376
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... ORPHA:90652
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Joint ... ORPHA:776
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Atrial septal defect, Broad thumb, Narrow mouth, Wolff-Parkinso... ORPHA:261295
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Narrow mouth, Patent ductus arteriosus, Omphalocele, Increased n... ORPHA:261344
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Short philtrum, Absent forearm, Wide anterior fontanel, Overlapping toe, Micrognath... OMIM:201170
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Underdeveloped nasal alae, Omphalocele, Ulnar deviation of the hand, Narrow great... OMIM:263210
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Narrow chest, Pectus carinatum, Mandibular prognathia, Pectus excavatum, Kyphosis, Hig... OMIM:300676
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect... OMIM:156810
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Short neck, Bulbous nose, Underdeveloped nasal alae, Everted lower lip vermilion, ... OMIM:616549
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Narrow palate, Narrow chest, Omphalocele, Cardiomegaly, High palate, Short neck,... OMIM:617022
Melnick-Needles Syndrome
Scoliosis, Narrow chest, Omphalocele, Short distal phalanx of finger, Short clavicles, Abnormalit... ORPHA:2484
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Severe short-limb dwarfism, Abnormality of femur... ORPHA:1263
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Microcephaly-Micromelia Syndrome
Craniosynostosis, Narrow mouth, Narrow chest, Forearm undergrowth, Absent radius, Abnormality of ... OMIM:251230
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, ... ORPHA:2412
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Abnormality of ... ORPHA:2673
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Squared iliac bones, Polyhydramnios, Hydrops fetalis, Advanced t... OMIM:215045
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Anophthalmi... ORPHA:93323
Martsolf Syndrome 1
Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad f... OMIM:212720
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypo... ORPHA:3426
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Congenital generalized lipodystrophy, Slender long bones with narrow... OMIM:608154
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobu... OMIM:252100
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Intestinal malrotation, Pancreatic fibrosis, Ureteral atresia, Renal in... OMIM:208540
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Camptodactyly, Met... OMIM:182212
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Proportionate short stature, Optic disc hypoplasia,... ORPHA:79345
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Hypoplastic ilia, Umbilical hernia, Sh... OMIM:600972
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Mosaic Trisomy 9
Scoliosis, Polyhydramnios, Hydrops fetalis, Bulbous nose, Elbow dislocation, Patent ductus arteri... ORPHA:99776
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Abnormality of dental morphology, Pectus... ORPHA:2522
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Narrow chest, Hypoplastic ischia, Bowing of t... ORPHA:1865
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... ORPHA:2710
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Finger syndact... ORPHA:2008
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... OMIM:170390
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Agenesis of pul... OMIM:601186
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Polyhydramnios, Narrow mout... ORPHA:96334
Cohen Syndrome
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Sandal gap, Delayed puberty, Slender toe... ORPHA:193
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Sensorineural hearing impairment, Phocomelia, Micrognathia... ORPHA:3320
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Omphalocele, Triangular mouth, Micrognathia, Long philtrum, Low-set e... OMIM:618529
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Short distal phalanx of finger, Sensorineural hearing impai... ORPHA:192
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Premat... OMIM:108720
Shprintzen-Goldberg Syndrome
Scoliosis, Craniosynostosis, Narrow chest, Elbow dislocation, Joint stiffness, Abnormality of the... ORPHA:2462
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Broad nasal tip, Osteolytic defects of th... OMIM:259610
Holoprosencephaly 9
Hypoplasia of the premaxilla, Solitary median maxillary central incisor, Anophthalmia, Hydrocepha... OMIM:610829
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... OMIM:236110
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Absent gallbladder, Ventricular septal defect, Pat... ORPHA:210122
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... ORPHA:508498
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Patent ductus arterios... OMIM:146510
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Polyhydramnios, Delayed closure of the anterior fontanelle, Overfolded helix, Dental c... OMIM:300373
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Post... OMIM:206920
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Abnormality of the metacarpal bones, Sensorineural hearing impai... ORPHA:1307
Mucopolysaccharidosis, Type Vii
Scoliosis, Hydrops fetalis, Postnatal growth retardation, Anterior beaking of lumbar vertebrae, M... OMIM:253220
Cohen Syndrome
Joint hypermobility, Short metatarsal, Open mouth, Delayed puberty, Mitral valve prolapse, High, ... OMIM:216550
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Cardiomegaly, T... OMIM:253250
Mosaic Trisomy 1
Polyhydramnios, Omphalocele, Oral cleft, Increased nuchal translucency, Long toe, Congenital diap... ORPHA:1692
Kniest Dysplasia
Laryngotracheomalacia, Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification,... ORPHA:485
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Atrial septal defect, Preaxial hand polydactyly, Large earlobe, Abs... ORPHA:79113
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Mosaic Trisomy 20
Scoliosis, Narrow chest, Micrognathia, Dysplastic tricuspid valve, Clinodactyly, Cleft lip, Cleft... ORPHA:1724
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk ... ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Maxillonasal Dysplasia
Scoliosis, Patchy distortion of vertebrae, Open bite, Short nose, Mandibular prognathia, Short di... ORPHA:1248
Aicardi Syndrome
Scoliosis, Hiatus hernia, Prominence of the premaxilla, Spina bifida, Recurrent pneumonia, Anteve... OMIM:304050
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Camptodactyly, Abdominal situs inversus, Pulmonic stenosis, Asplenia, ... OMIM:619123
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Delayed closure of the anterior fontanelle, Wormian bones... OMIM:604922
Focal Dermal Hypoplasia
Scoliosis, Open bite, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Om... ORPHA:2092
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Platyspondyly, Oligodontia, Widely spaced teeth, Mandibular prognathia, ... OMIM:601216
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Narrow chest, Natal tooth, Patent ductus arteriosus, Omphalocele, Anencephaly, Ho... OMIM:269860
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Abnormal dental enamel morphology, Short metatarsal, Short phala... ORPHA:439822
Subaortic Stenosis--Short Stature Syndrome
Short phalanx of finger, Shield chest, Narrow mouth, Short neck, Barrel-shaped chest, Hypoplasia ... OMIM:271960
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac... OMIM:108721
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Turnpenny-Fry Syndrome
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, Patent ductus... OMIM:618371
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Conductive hearing impairment, Sprengel anomaly, Abnormalit... OMIM:214300
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
C Syndrome
Scoliosis, Patent ductus arteriosus, Omphalocele, High palate, Micrognathia, Dislocated radial he... OMIM:211750
Distal Trisomy 15Q
Camptodactyly of finger, Long philtrum, Short neck, Downturned corners of mouth, Pectus excavatum... ORPHA:1707
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Moderate hearing impairment, Broad nasal tip, Recur... ORPHA:370010
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Abnormality of the ribs, Atrial septal defect, Disproportionate ... ORPHA:1354
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... ORPHA:1166
Aarskog-Scott Syndrome
Scoliosis, Mild short stature, Joint laxity, Delayed puberty, Prominent umbilicus, Cervical spine... OMIM:305400
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Congenital diaphragmatic hernia, ... ORPHA:2409
Melnick-Needles Syndrome
Narrow chest, Omphalocele, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hy... OMIM:309350
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Prominence of the premaxilla, Overfolded helix, Paten... OMIM:602535
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Talipes equinovarus, Spina bifida, Small hypothenar eminence, Long philtru... OMIM:211960
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... ORPHA:2437
Myhre Syndrome
Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gingival cleft, Joi... ORPHA:2588
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Scoliosis, Camptodactyly of finger, Aniridia, Long philtrum, Mandibular prognathia, Pectus excava... ORPHA:1101
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Bulbous nose, Split hand, Inte... OMIM:259600
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Bulbous nose, Cleft palate, ... OMIM:260150
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, High palate, Abnormal thorax morphology, Congestive he... OMIM:269920
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Hypertension, Ulnar deviation of the hand, Carpal o... OMIM:166300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Bilateral single transverse palmar creases, Sh... ORPHA:1120
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Multiple pterygia, Fetal akinesia sequence, Short finger, Flexion contracture, Th... OMIM:312150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Abnormal sacrum morphology, Conductive hearing impairment,... ORPHA:93262
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Complete atrioventricular canal defect, Diastema, Postaxial polydact... OMIM:619142
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Joint laxity, Open mouth, Camptodactyly, Omphalocele, Postnatal growth retardatio... ORPHA:254528
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Choanal atresia, Esophageal atresia, Submucous cleft hard pal... OMIM:619227
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Joint laxity, Open mouth, Dental crowding, High palate, Micrognathia, Hypoplasia of ... OMIM:309520
Trisomy 18
Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Anencephaly, Bilateral single transver... ORPHA:3380
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... OMIM:217085
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Long philtrum, Recurrent otitis medi... OMIM:157800
3C Syndrome
Scoliosis, Intestinal malrotation, Postnatal growth retardation, Hemivertebrae, Oral cleft, High,... ORPHA:7
Distal Monosomy 19P13.3
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Conductive hearing impairment... ORPHA:96129
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Dental crowding, Patent ductus arteriosus, High pa... OMIM:130720
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Superiorly displaced ears, Swan neck-like deformities of the fingers, Abnorm... ORPHA:329252
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Narrow palate, Proportionate short stature, Patent ductus arteriosus... OMIM:608328
Holoprosencephaly 7
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Median cleft lip and palate, Absent na... OMIM:610828
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, High palate, Clinodactyly, Protruding ear, Short stature, Talipes equino... ORPHA:85279
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Coronal craniosynostosis, ... OMIM:241310
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Narrow chest, Short distal phalanx of finger, Abnormality of the... ORPHA:85166
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Weill-Marchesani Syndrome 1
Scoliosis, Narrow palate, Proportionate short stature, Patent ductus arteriosus, Joint stiffness,... OMIM:277600
Accelerated skeletal maturation, Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, M... ORPHA:950
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... OMIM:609029
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Overlapping... OMIM:617478
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Low-... OMIM:614261
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... OMIM:600920
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Omphalocele, Aplasia/Hypoplasia of the lungs, Missing ribs, Premature birth, Congenita... ORPHA:1834
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... ORPHA:2538
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Narrow chest, Downturned corners of mouth, Atresia of the external audit... OMIM:601390
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Narrow mouth, Elbow dislocation, Camptodactyly, Atresia of th... OMIM:224690
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the ... ORPHA:1705
Cerebrofaciothoracic Dysplasia
Scoliosis, Polyhydramnios, Short nose, Narrow chest, Low-set, posteriorly rotated ears, Sprengel ... ORPHA:1394
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Multiple pterygia, Fetal akinesia sequence, Short finger, Flexion contracture, Th... OMIM:253290
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle ... OMIM:113000
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Narrow chest, Downturned corners of mouth, Atresia of the external audit... OMIM:615546
Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Bone pain, Osteopoikilosis, Hyperostosis, Joint sti... ORPHA:1306
Aicardi Syndrome
Hip dysplasia, Hiatus hernia, Prominence of the premaxilla, Scoliosis, Short philtrum, Rib fusion... ORPHA:50
Fountain Syndrome
Scoliosis, Abnormality of the metacarpal bones, Short distal phalanx of finger, Facial edema, Sen... ORPHA:3219
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Natal tooth, Patent ductus arteriosus, Intestinal malrotation, Lobulat... OMIM:249000
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Myhre Syndrome
Narrow mouth, Mandibular prognathia, Pericardial effusion, Camptodactyly, Patent ductus arteriosu... OMIM:139210
Gm1 Gangliosidosis
Scoliosis, Hydrops fetalis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Joint ... ORPHA:354
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Polydactyly, Short middle pha... OMIM:617926
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Abnormality of the amniotic fluid, Flexion contracture, Nonimmune hydrops ... OMIM:608540
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... ORPHA:3033
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Mandibular prognathia, Choanal atresia, Hydrocephalu... OMIM:101200
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Abnormality of the pinna, Cleft palat... OMIM:246560
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Respiratory tract infection, Short nose, Macrotia, Hypoplasia of the maxilla, 2-3 toe ... OMIM:218000
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... OMIM:311895
Asymmetric Short Stature Syndrome
Dental crowding, Lumbar scoliosis, Hemihypotrophy of lower limb, Asymmetric short stature, Microg... OMIM:108450
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Wormian bones, Thin vermilion border, Lipoatrophy, Delayed ... OMIM:601812
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Wide nasal bri... OMIM:615524
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Short phalanx... OMIM:101800
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Abnormality of the dentition, Short distal phalanx of finger, Short stature, Broad na... ORPHA:2776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal ... OMIM:617895
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, Short femoral neck, A... OMIM:618363
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Ulnar deviation of the wrist, Sensorineural he... ORPHA:1529
Distal Xq28 Microduplication Syndrome
Absent antihelix, Broad nasal tip, Open mouth, Dental crowding, Recurrent upper respiratory tract... ORPHA:293939
Polyhydramnios, Postaxial hand polydactyly, Arrhinencephaly, Low-set, posteriorly rotated ears, T... ORPHA:2189
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Omphalocele, Cleft palate, Hydroceph... ORPHA:945
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Omphalocele, Aplasia/Hypoplasia of the radius, Abnormal ... ORPHA:2141
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Narrow chest,... ORPHA:73230
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Intestinal malrotation, Omphalo... ORPHA:3035
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Downturned corners of mouth, Underdeveloped nasal alae, Choan... ORPHA:521308
Metatropic Dysplasia
Scoliosis, Narrow chest, Aplasia/Hypoplasia of the lungs, Joint stiffness, Abnormality of the rib... ORPHA:2635
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Craniosynostosis, Short nose, Ventricular septal defect, Bro... OMIM:145420
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining t... ORPHA:185
Kbg Syndrome
Scoliosis, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent open anterior fo... ORPHA:2332
Vacterl/Vater Association
Polyhydramnios, Omphalocele, Anencephaly, Aplasia/Hypoplasia of the lungs, Premature birth, Conge... ORPHA:887
Sialidosis Type 2
Osteoporosis, Short thorax, Hydrops fetalis, Pectus carinatum, Kyphosis, Flexion contracture, Ped... ORPHA:87876
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Overfolded helix, Abnormality of the metacarpal bones, Increased bo... ORPHA:628
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Rhizomelia, Phalangeal dislocation, Omphalocele, Tal... ORPHA:85174
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Ventricular septal defect, Posterior rib gap, Conductive hearing ... ORPHA:1393
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Short neck, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Chromosome 9P Deletion Syndrome
Scoliosis, Narrow mouth, Patent ductus arteriosus, Omphalocele, Choanal atresia, High palate, Hig... OMIM:158170
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Increased bone mineral density, Spina bifida occulta, Abnormality of... ORPHA:2780
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Apert Syndrome
Broad thumb, Narrow palate, Mandibular prognathia, Choanal atresia, Sensorineural hearing impairm... ORPHA:87
Lamb-Shaffer Syndrome
Hip dysplasia, Scoliosis, Thoracic kyphosis, Thick vermilion border, Mild postnatal growth retard... ORPHA:530983
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... OMIM:615994
Narrow mouth, Narrow chest, Omphalocele, Abnormality of the ribs, Abnormality of the metaphysis, ... ORPHA:2021
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Narrow che... ORPHA:1452
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... ORPHA:3316
Hydrocephalus With Associated Malformations
Intestinal malrotation, Omphalocele, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia,... OMIM:236640
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Finger syndactyly, Dental crowding, Mandibular ... OMIM:101600
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly, Abnormality of ... OMIM:615982
Hallermann-Streiff Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth... OMIM:234100
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Tented upper lip... ORPHA:2662
Yunis-Varon Syndrome
Polyhydramnios, Small earlobe, Thin vermilion border, Hydrops fetalis, Tapered toe, Aplasia/Hypop... OMIM:216340
Chromosome 1P36 Deletion Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Asymmetry of the ears, Camptodactyly, Pate... OMIM:607872
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Dental crowding, Triangu... OMIM:268310
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... ORPHA:99772
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, S... OMIM:143095
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia, Broad metatarsal, ... ORPHA:1540
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrotia, Mandibular prognathia, Pectus excavatum, High palate, Large hands, Diastema, Short dist... OMIM:300534
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Yunis-Varon Syndrome
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Bilateral external ear deformity, Slender... ORPHA:3472
Frank-Ter Haar Syndrome
Scoliosis, Mandibular prognathia, Abnormality of the metacarpal bones, Joint stiffness, Mitral va... ORPHA:137834
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Natal tooth, Patent ductus arteriosus, Omphalocele, Postaxial polydactyly, Horizont... OMIM:616300
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Dental crowding, Atresia of the external auditory canal, Sensorineural ... ORPHA:2789
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Broad thumb, Hypoplastic right heart, Short phalanx of finger, Downturned corners of m... OMIM:616894
Vacterl With Hydrocephalus
Anotia, Polyhydramnios, Hemivertebrae, Anophthalmia, Micrognathia, Hydrocephalus, Hypoplasia of t... ORPHA:3412
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Omphaloce... OMIM:263650
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Polyhydramnios, Hydrops fetalis, Narrow chest, Natal tooth, Incr... ORPHA:50945
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge, Anal... OMIM:617746
Feingold Syndrome 1
4-5 toe syndactyly, Accessory spleen, Everted lower lip vermilion, Polysplenia, Patent ductus art... OMIM:164280
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Patent ductus arteriosus, Intestinal ... ORPHA:2712
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Long philtrum, Finger sy... ORPHA:178303
Smith-Magenis Syndrome
Scoliosis, Abnormality of the forearm, Abnormal heart morphology, Broad palm, Mandibular prognath... OMIM:182290
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Polydactyly, Camptodactyly, Omphalocele, Micrognathia, Deep palmar crease, Low-se... OMIM:247200
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Short neck, Cellulitis, Macrotia, Atrophic scars, Ventral hern... OMIM:618000
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Distal 22Q11.2 Microduplication Syndrome
Scoliosis, Abnormality of the antihelix, Bulbous nose, Mandibular prognathia, Patent ductus arter... ORPHA:261337
Duane-Radial Ray Syndrome
Scoliosis, Optic disc hypoplasia, Choanal atresia, Sandal gap, Absent radius, Sensorineural heari... OMIM:607323
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Micropenis, Wide nose, Recurrent upper respir... OMIM:300209
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Posterior rib fusion, Misalignment of the pulmonary veins, Pulmonary insufficienc... OMIM:265380
Saethre-Chotzen Syndrome
Scoliosis, Open bite, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate,... ORPHA:794
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Posterior scallopi... OMIM:603546
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Spina bifida occulta, Congenital diaphragmatic hernia, Abnormality of the ribs, Short ... ORPHA:2311
Frontometaphyseal Dysplasia 2
Scoliosis, Short metatarsal, Congenital hip dislocation, Camptodactyly, Patent ductus arteriosus,... OMIM:617137
Codas Syndrome
Enamel hypoplasia, Scoliosis, Polyhydramnios, Congenital hip dislocation, Short phalanx of finger... OMIM:600373
Trisomy 20P
Scoliosis, Abnormality of the antihelix, Thin vermilion border, Downturned corners of mouth, Shor... ORPHA:261318
Marfan Syndrome
Scoliosis, Joint hypermobility, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgit... OMIM:154700
Cerebrofacioarticular Syndrome
Narrow mouth, Camptodactyly, Micrognathia, Hypoplasia of the maxilla, Anal stenosis, Bilateral ch... ORPHA:314679
Camurati-Engelmann Disease, Type 2
Lower limb pain, Hyperostosis, Delayed puberty, Thoracolumbar scoliosis, Hip contracture, Knee fl... OMIM:606631
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger... OMIM:614091
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent ver... OMIM:200610
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Anencephaly, Micrognathia, Hydrocephalus, Situs inversu... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Omphaloc... OMIM:601357
Diabetic Embryopathy
Ventricular septal defect, Low-set, posteriorly rotated ears, Spinal dysraphism, Aplasia/Hypoplas... ORPHA:1926
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Widely s... OMIM:135100
Femoral-Facial Syndrome
Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p... ORPHA:1988
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Recurrent urinary tract infections, Choanal atresia, San... ORPHA:261330
Mend Syndrome
Overlapping fingers, Overlapping toe, Microretrognathia, Polydactyly, Kyphosis, 2-3 toe syndactyl... OMIM:300960
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Joint hypermobility, Thin vermilion border, Broad thumb, Bulbous nose, Overfolded helix, High pal... ORPHA:481152
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Short phalanx of finger, Cone-shaped epiphysis, Wide mouth, Nephr... OMIM:266920
3Mc Syndrome 1
Conjunctival telangiectasia, Lambdoidal craniosynostosis, Dental crowding, Patent ductus arterios... OMIM:257920
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Arthrogryposis multiplex congenita, Low-set ears, Decreased fetal movement, E... OMIM:616570
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Aplasia/Hypoplasia of the radius, Gastrosch... ORPHA:2476
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Rieger anomaly, Sensorineural hearing impairment, Abnormal a... OMIM:109120
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Scoliosis, Conductive hearing impairment, Sprengel anomaly, ... OMIM:118100
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cl... ORPHA:1104
Miller-Dieker Syndrome
Polyhydramnios, Short nose, Growth delay, Omphalocele, Sacral dimple, Abnormality of upper lip, C... ORPHA:531
Bardet-Biedl Syndrome 16
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... OMIM:615993
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... OMIM:264480
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, High palate, Sho... OMIM:611209
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Abnormal heart morphology, Anal stenosis, Mandibular prognathia, Everted lower li... OMIM:601499
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Premature birth following premature rupture of fetal membranes, Cigarette-pa... OMIM:130000
Acrofacial Dysostosis, Catania Type
Carious teeth, Bilateral single transverse palmar creases, Premature birth, Spina bifida occulta,... ORPHA:1786
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... OMIM:263540
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Mandibular prognathia, C... ORPHA:397973
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis, Rectal atresia... OMIM:613390
Mckusick-Kaufman Syndrome
Tarsal synostosis, Patent ductus arteriosus, Abnormality of the metacarpal bones, High palate, Re... ORPHA:2473
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Right aortic ar... OMIM:147770
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, ... OMIM:609053
Phocomelia, Schinzel Type
Abnormality of tibia morphology, Hydrops fetalis, High, narrow palate, Short neck, Micrognathia, ... ORPHA:2879
Fryns Syndrome
Polyhydramnios, Narrow chest, Intestinal malrotation, Omphalocele, Short distal phalanx of finger... ORPHA:2059
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Narrow chest, Low-set, posteriorly rotated ears, Wide mouth,... ORPHA:1703
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Right aortic arch, Coarctation of aorta OMIM:140850
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Open mouth,... OMIM:192430
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Smooth phil... ORPHA:1727
Cranioectodermal Dysplasia 2
Polyhydramnios, Craniosynostosis, Hydrops fetalis, Joint laxity, Narrow chest, Polydactyly, Paten... OMIM:613610
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... OMIM:613686
Phaver Syndrome
Broad thumb, Overfolded helix, Broad hallux phalanx, Joint stiffness, Short thumb, Abnormality of... ORPHA:2876
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Shor... OMIM:617516
Neonatal Marfan Syndrome
Joint hypermobility, Abnormal echocardiogram, Enlarged thorax, Crumpled ear, Tricuspid regurgitat... ORPHA:284979
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Genu recurvatum, Emphysema, Slend... OMIM:613804
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Spinal dysraphism, Abnormality of the m... ORPHA:175
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, High ... ORPHA:96170
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Dislocated radial head, Deformed humerus, Mandibular condyle hypopl... ORPHA:2975
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Renal agenesis, Broad nasal tip, Central Y-shaped metacarpal, Tongue n... OMIM:277170
Scoliosis, Abnormality of the antihelix, Branchial anomaly, Spinal dysraphism, Choanal atresia, O... ORPHA:2162
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Sensorineural hearing impairment, Ulnar deviation of the... OMIM:122880
Mullegama-Klein-Martinez Syndrome
Scoliosis, Bulbous nose, Polydactyly, Sensorineural hearing impairment, Congenital diaphragmatic ... OMIM:301022
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Hypoplastic ischia, Short clavicles, Short neck, Barrel-shaped c... OMIM:200600
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Catel-Manzke Syndrome
Joint laxity, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd finger, ... OMIM:616145
Peters-Plus Syndrome
Scoliosis, Polyhydramnios, Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral... OMIM:261540
Kagami-Ogata Syndrome
Polyhydramnios, Pursed lips, Omphalocele, Postnatal growth retardation, Premature birth, Broad ph... ORPHA:254519
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Polyhydramnios, Broad thumb, Congenital hip dislocati... ORPHA:373
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Short neck, Dental crowding, Mandibular... OMIM:101120
Fryns Syndrome
Polyhydramnios, Camptodactyly, Intestinal malrotation, Omphalocele, Short distal phalanx of finge... OMIM:229850
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... OMIM:253000
Mycophenolate Mofetil Embryopathy
Anotia, Hydrops fetalis, Ventricular septal defect, Atresia of the external auditory canal, Trach... ORPHA:268249
Zttk Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... OMIM:617140
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Narrow chest, Preaxial polydactyly, Postax... OMIM:616546
Arthrogryposis, Distal, Type 1C
Scoliosis, Pursed lips, Thin vermilion border, Narrow mouth, Increased nuchal translucency, Wrist... OMIM:619110
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Hypoplasia of the maxilla, Conductive hearing impa... ORPHA:207
Hemifacial Microsomia
Anotia, Branchial anomaly, Atresia of the external auditory canal, Patent ductus arteriosus, Hemi... OMIM:164210
Verheij Syndrome
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Abnorma... OMIM:615583
Pallister-Hall Syndrome
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... ORPHA:672
Gm1 Gangliosidosis Type 1
Abnormality of odontoid tissue, Hydrops fetalis, Broad long bone diaphyses, Flared iliac wing, Be... ORPHA:79255
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Stickler Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Bone pain, Sensorineural hearing impairm... ORPHA:828
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of finger, High pal... OMIM:114300
Bardet-Biedl Syndrome 12
Polydactyly, Abnormality of the kidney OMIM:615989
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r... ORPHA:582
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Cleft palate, Microphthalmia, ... OMIM:613885
Gm1-Gangliosidosis, Type I
Thickened ribs, Scoliosis, Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart valve morpholo... OMIM:230500
Femoral-Facial Syndrome
Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped nasal alae, M... OMIM:134780
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholesta... OMIM:610205
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Autosomal Recessive Robinow Syndrome
Scoliosis, Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Br... ORPHA:1507
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Atresia of the ... ORPHA:245
Meier-Gorlin Syndrome 3
Narrow mouth, Narrow chest, Birth length less than 3rd percentile, Micrognathia, Bronchomalacia, ... OMIM:613803
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Double outlet right ventricle, Increased susceptibility to fractures, Mitral valve p... ORPHA:371428
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Abnorm... ORPHA:1110
Oculoauriculovertebral Spectrum With Radial Defects
Atresia of the external auditory canal, Laryngeal stridor, Oral cleft, Sensorineural hearing impa... ORPHA:2549
Limb Body Wall Complex
Short umbilical cord, Choanal atresia, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasi... ORPHA:2369
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Anteverted nares, Ventricular septal defect, Conductive heari... ORPHA:1488
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
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
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, Coarctation of aorta, 2-3 toe synda... OMIM:600987
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Vascular dilatation, Wide nasal bridge, Hepatomegaly, Polycystic kidney dys... OMIM:614859
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Short stature, B... ORPHA:1436
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Low-set, posteriorly rot... ORPHA:281
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Narrow mouth, Short nose, Camptodactyly, Smooth philtrum, Abnorm... OMIM:608156
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morp... ORPHA:2204
Gracile Bone Dysplasia
Ankyloglossia, Brachydactyly, Slender long bone, Asplenia, Flared metaphysis, Hypoplastic spleen,... OMIM:602361
Geroderma Osteodysplasticum
Osteoporosis, Femoral bowing, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking o... OMIM:231070
Acrorenal Syndrome
Abnormal renal morphology, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the... ORPHA:971
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Thoracic hypoplasia, Pulmonary hypoplasi... OMIM:613124
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Congenital di... ORPHA:958
Neu-Laxova Syndrome 1
Polyhydramnios, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ova... OMIM:256520
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Micropenis, Brachydactyly OMIM:615983
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the antihelix, Mandibular prognathia, Broad hallux phalanx, Aplasia/Hypoplasia of ... ORPHA:3082
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Abnormality of the antihelix, Craniosynostosis, Short nose, Oligohydramn... ORPHA:2145
Pseudoaminopterin Syndrome
Clubbing of fingers, Hip subluxation, Postaxial polydactyly, Oral cleft, Clinodactyly of the 5th ... ORPHA:221120
22Q11.2 Deletion Syndrome
Scoliosis, Small earlobe, Carious teeth, Abnormal dental enamel morphology, Polyhydramnios, Narro... ORPHA:567
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Hepatic cysts, Duplic... OMIM:263630
Neu-Laxova Syndrome
Scoliosis, Polyhydramnios, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Micro... ORPHA:2671
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Thin vermilion border, Open bite, Nar... ORPHA:955
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Cleft palate, Hypoplasia of the epiglottis, Syndactyly, Broad nasal tip... OMIM:300484
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ear-Patella-Short Stature Syndrome
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... ORPHA:2554
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Scoliosis, Oligodontia, Short metatarsal, Congenital hip dislocation... OMIM:305600
Lymphedema, Atypical scarring of skin, Ectopic ossification in muscle tissue, Upper limb asymmetr... ORPHA:2485
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... OMIM:253010
Ring Chromosome 21 Syndrome
Scoliosis, Azoospermia, Abnormal heart morphology, Holoprosencephaly, Narrow palm, Abnormal thora... ORPHA:1445
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Pentalogy Of Cantrell
Scoliosis, Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Spli... ORPHA:1335
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Pyloric stenosis, Pat... ORPHA:435638
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Hypoplastic frontal sinuses, Abnormality of the metacarpal bones,... ORPHA:90650
Polyhydramnios, Arthrogryposis multiplex congenita, Narrow mouth, Spinal dysraphism, Omphalocele,... ORPHA:63259
Charge Syndrome
Scoliosis, Polyhydramnios, Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Paten... ORPHA:138
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Wormian bones, Macroglossia, Congenital hip dislocation, Growth delay,... OMIM:614450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Hydrops fetalis, Narrow chest, Horizontal ribs, Hamartoma of to... OMIM:263520
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypopl... ORPHA:50814
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Underdeveloped nasal alae, Postnatal growth retardation, Micrognathia, Contracture ... ORPHA:83617
Temple Syndrome
Scoliosis, Joint hypermobility, Short philtrum, Recurrent otitis media, Flexion contracture, Post... OMIM:616222
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Protruding ear, ... OMIM:618737
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Conductive hearing impairment, Patent ductus arteriosus, Abnormality of the dentitio... ORPHA:2095
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Absent radius, Prema... OMIM:154400
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Scoliosis, Polyhydramnios, Broad thumb, Joint laxity, Nar... OMIM:180849
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Scoliosis, Inflammation of the large intestine, Osteolysis, Abnormal vertebral morphology, Abnorm... ORPHA:324964
Feingold Syndrome Type 1
Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple muscular ventricular septa... ORPHA:391641
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Abnormality of the dentition, Radial deviation of finger, Low... OMIM:309610
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proximal interphalang... ORPHA:2872
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Low-set ear... ORPHA:2958
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Accelerated skeletal maturation, Craniosynostosis, Multiple joint... OMIM:245600
Mucopolysaccharidosis Type 7
Scoliosis, Epiphyseal stippling, Hydrops fetalis, Enlarged thorax, Lymphedema, Abnormal pleura mo... ORPHA:584
Branchioskeletogenital Syndrome
Carious teeth, Craniosynostosis, Thin vermilion border, Downturned corners of mouth, Upper limb p... ORPHA:1299
15Q24 Microdeletion Syndrome
Scoliosis, Joint laxity, Narrow mouth, Postnatal growth retardation, Congenital diaphragmatic her... ORPHA:94065
Meckel Syndrome
Urethral atresia, Postaxial hand polydactyly, Situs inversus totalis, Accessory spleen, Preaxial ... ORPHA:564
Campomelic Dysplasia
Polyhydramnios, Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, ... OMIM:114290
Donnai-Barrow Syndrome
Wide anterior fontanel, Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocel... ORPHA:2143
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Noonan Syndrome 3
Polyhydramnios, Shield chest, Patent ductus arteriosus, Hypoplastic nasal bridge, Patent foramen ... OMIM:609942
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Anal atresi... OMIM:309620
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Widening of cervical spinal canal, Cervical vertebral bodies with de... OMIM:606842
Thakker-Donnai Syndrome
Narrow mouth, Downturned corners of mouth, Ventricular septal defect, Macrotia, Bulbous nose, Hem... ORPHA:1780
Stickler Syndrome, Type I
Scoliosis, Sensorineural hearing impairment, Mitral valve prolapse, Osteoarthritis, Depressed nas... OMIM:108300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Elbow dislocation, Ma... ORPHA:2916
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Thin ... OMIM:601927
Chromosome 3Pter-P25 Deletion Syndrome
Thin vermilion border, Downturned corners of mouth, Postaxial polydactyly, Postnatal growth retar... OMIM:613792
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... ORPHA:3270
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Macrotia, Bilateral cleft lip and palate, Neural tube defect... OMIM:600776
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility,... ORPHA:2097
Trisomy 8P
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, 3-4 finger cutaneous s... ORPHA:264450
Meier-Gorlin Syndrome 5
Small earlobe, Long philtrum, Elbow dislocation, Prominent metopic ridge, Delayed skeletal matura... OMIM:613805
Robinow Syndrome
Scoliosis, Dental crowding, Short distal phalanx of finger, Hemivertebrae, Oral cleft, Triangular... ORPHA:97360
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... OMIM:184460
Hydrolethalus Syndrome 1
Polyhydramnios, Omphalocele, Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydact... OMIM:236680
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Aminopterin Syndrome Sine Aminopterin
Oligodontia, High palate, Umbilical hernia, Low-set ears, Rudimentary postaxial polydactyly of ha... OMIM:600325
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... ORPHA:1801
Classical Ehlers-Danlos Syndrome
Scoliosis, Cigarette-paper scars, Pulp calcification, Joint swelling, Abnormal heart valve physio... ORPHA:287
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Scoliosis, Camptodactyly of finger, Midline nasal groove, Finger clinodactyly, Low-set, posterior... ORPHA:391474
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Narrow mouth, Dental crowding, Mandibular prognathia, Camptodactyly, Premature birth, ... OMIM:300998
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections, Bilateral... ORPHA:2399
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Wide nasal bridge, Stenosis of the exte... ORPHA:1513
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Thoracic h... ORPHA:254534
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Recurrent urinary tract infections, Patent ductus arteri... ORPHA:2970
1P36 Deletion Syndrome
Scoliosis, Narrow mouth, Patent ductus arteriosus, Sensorineural hearing impairment, Joint stiffn... ORPHA:1606
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Microphthalmia, Syndromic 2
Scoliosis, Oligodontia, Asymmetry of the ears, Patent ductus arteriosus, Sandal gap, Hammertoe, D... OMIM:300166
Fanconi Anemia
Scoliosis, Patent ductus arteriosus, Choanal atresia, High palate, Triphalangeal thumb, Micrognat... ORPHA:84
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Recurrent otitis media, Hypodontia... OMIM:1