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 Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

7 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
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Cleft palate, Hypospadias, Ventricular septal def... OMIM:231060
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cyst... OMIM:615415
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis, Truncus arteriosus OMIM:274210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... ORPHA:2516
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... OMIM:601355
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... ORPHA:401935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal cyst, Renal hypop... OMIM:228940
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Microphthalmia, Micrognathia, Short philtrum, Platysp... ORPHA:93267
Adams-Oliver Syndrome 6
Splenomegaly, Syndactyly, Brachydactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... OMIM:616589
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal h... ORPHA:228190
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, ... OMIM:136760
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta,... OMIM:604381
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Hemivertebrae, Down-sloping shoulders, Microphthalmia, Mandibular pr... OMIM:109400
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Severe short stature, Thickened nuchal skin fold, Micrognathia... ORPHA:93298
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... ORPHA:93299
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Anal atresia, Ectopic anus, Cleft palate, Abno... ORPHA:2345
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Hydrocephalus, Abnormal cardiac septum morphology, Anal atresia, Na... ORPHA:2166
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... OMIM:201000
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Platyspondyly, Short neck, Ventricular septal defect, Pulmonary hypopla... OMIM:616897
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Intestinal malrotation, Atr... OMIM:616749
Isolated Osteopoikilosis
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Sclerotic scapulae,... ORPHA:166119
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Hypopla... OMIM:213980
Achondrogenesis
Narrow chest, Severe short stature, Inguinal hernia, Thickened nuchal skin fold, Micrognathia, Sh... ORPHA:932
Kagami-Ogata Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Pulmonary hypoplasia, Omphalocele, Diastasi... OMIM:608149
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... OMIM:618000
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... OMIM:215140
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Omphalocele, Post... OMIM:228520
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Macrotia, Anophthalmia, Dextrocardia, ... OMIM:221950
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Pectus carinatum, Mandibular prognathia, Delayed... ORPHA:1327
Triploidy
Narrow chest, Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Narrow mouth, Aplasi... ORPHA:3376
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypoplasia, Pterygi... ORPHA:1865
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... OMIM:156810
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Pulmonary hypoplasia, Omphalocele, Short long bone, Abnormal heart morphology, Flexio... OMIM:263210
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Short stature, Thin vermilion border, Flared meta... OMIM:156510
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Abnormal pinna morphology, Cleft palate, Pulmo... ORPHA:90652
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... OMIM:608154
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Lethal Congenital Contracture Syndrome 10
High palate, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Broad ribs, Omphalocele... OMIM:617022
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Lujan-Fryns Syndrome
High palate, Protruding ear, Pectus excavatum, Atrial septal defect, Arachnodactyly, Micrognathia... ORPHA:776
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Hydrocephalus, Pectus excavatum, Abnormal pinna morphology, Craniosynostosis, Osteop... OMIM:182212
Achondrogenesis, Type Ib
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Inguinal hernia, H... OMIM:600972
Trisomy 1Q
Hydrocephalus, Cleft palate, Ventricular septal defect, Omphalocele, Abnormality of the outer ear... ORPHA:261344
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... OMIM:306955
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Cleft palate, Limitation of knee mobility, Si... ORPHA:1826
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Narrow mouth, Atrial septal defect, Malar flattening, Short statu... ORPHA:261295
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... OMIM:212720
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynosto... OMIM:251230
Primary Ciliary Dyskinesia
Double outlet right ventricle, Abnormal heart morphology, Anomalous pulmonary venous return, Inte... ORPHA:244
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... OMIM:304120
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short st... OMIM:201170
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short sta... ORPHA:2522
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, In... ORPHA:3426
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Finger syndactyly, Cleft pa... ORPHA:2008
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... OMIM:215045
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Proportionate short stat... ORPHA:79345
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Short neck, Anencephaly, Lobulated tongue, Ventricular ... OMIM:269860
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Patellar disloc... ORPHA:3320
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:617478
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Low-set ears, Pectus excavatum, Short stature, External ear malform... ORPHA:2673
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Mohr Syndrome
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hyp... OMIM:252100
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... OMIM:236110
Oculodentodigital Dysplasia
Abnormality of the ear, Abnormal clavicle morphology, Cleft palate, Carious teeth, Ventricular se... ORPHA:2710
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorly placed anus, Intraut... OMIM:612863
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis,... OMIM:144750
Shprintzen-Goldberg Syndrome
Pectus excavatum, Craniosynostosis, Osteopenia, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2462
Cohen Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... ORPHA:193
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Abnormal helix morphology, Atrioventricular canal defect, Vert... ORPHA:1120
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Flexion contracture, Short stature, Everted lower l... OMIM:616549
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Hypermobility of inte... ORPHA:508498
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, B... OMIM:619123
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly... OMIM:604922
Pelvis-Shoulder Dysplasia
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... ORPHA:2839
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... ORPHA:96334
Aicardi Syndrome
Bifid ribs, Rib fusion, Cleft upper lip, Butterfly vertebrae, Hiatus hernia, Lipoma, Postnatal gr... OMIM:304050
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... ORPHA:210122
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Mosaic Trisomy 20
Abnormal mitral valve morphology, Limited pronation/supination of forearm, Cleft palate, Craniofa... ORPHA:1724
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Abnormal hip bo... ORPHA:1166
Focal Dermal Hypoplasia
Telangiectasia of the skin, Abnormal cardiac septum morphology, Abnormality of the dentition, Ven... ORPHA:2092
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... OMIM:274000
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Platyspondyly, Short neck, Dispropo... ORPHA:485
Bardet-Biedl Syndrome 10
Renal insufficiency, Abnormality of the kidney, Renal cyst, Polydactyly OMIM:615987
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... ORPHA:90653
Coffin-Lowry Syndrome
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Broad finger, Delaye... ORPHA:192
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Gingival overgrowth, Triangular mouth, Short stature, Micrognathia, Abnorm... OMIM:618529
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Coarctation of aorta, Hamartoma of tongue, Postaxial hand polydactyly, Bro... OMIM:217085
Mosaic Trisomy 1
Wide mouth, Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, ... ORPHA:1692
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla,... ORPHA:2412
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Accelerated skele... ORPHA:1354
Schneckenbecken Dysplasia
Cleft palate, Platyspondyly, Short neck, Nonimmune hydrops fetalis, Ovoid vertebral bodies, Umbil... OMIM:269250
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Short philtrum, Underdeveloped tragus, Hypoplasia of the maxilla, So... OMIM:610829
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Wrist pain, Metatarsal osteolysis, ... OMIM:166300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Scoliosis, Pectus ca... ORPHA:3268
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cleft upper lip, Conductive hearing impairment... OMIM:214300
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Microdontia,... OMIM:601216
Czeizel-Losonci Syndrome
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse p... ORPHA:2437
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, Hig... OMIM:216550
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Pectus carinatum,... OMIM:253220
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... ORPHA:79113
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Overfolded helix, Ventricular septal ... OMIM:300373
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Dental crowding, Hypodontia, Short stature, Pericardial... OMIM:253250
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed a... OMIM:146510
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... ORPHA:1307
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... OMIM:108721
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Single transverse palmar crease, Sandal gap, Microphthalmia, Cleft upp... OMIM:206920
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Derma... OMIM:211960
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure o... OMIM:311300
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... ORPHA:763
Myhre Syndrome
Abnormal cardiac septum morphology, Cleft palate, Platyspondyly, Abnormality of the pubic bone, A... ORPHA:2588
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin bony cortex, Thin metacarpal corti... OMIM:259600
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Short philtrum, Upper limb... ORPHA:439822
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... OMIM:309350
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Abnormality of the ear, Pectus excavatum, Talipes equinovarus, Tricuspi... ORPHA:1101
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... ORPHA:2538
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Th... OMIM:312150
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Hydrocephalus, Gingival overgrowth, Osteopenia, Hydrops fe... OMIM:269920
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, Hypoplasia of the ma... OMIM:305400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Distal Trisomy 15Q
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... ORPHA:1707
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Omphalocele... OMIM:616300
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Atrioventricular canal defect, Short philtrum, Di... OMIM:619142
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Wide mouth, Clinodactyly of the 5th finger, Secundum atrial septal defect, Retrogna... OMIM:619758
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... OMIM:618371
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scol... ORPHA:1248
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single ... ORPHA:2409
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... ORPHA:1705
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Emanuel Syndrome
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Recurrent r... OMIM:609029
Aicardi Syndrome
Bifid ribs, Rib fusion, Cleft upper lip, Butterfly vertebrae, Hiatus hernia, Malabsorption, Cleft... ORPHA:50
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Trisomy 18
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Omphalocele,... ORPHA:3380
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... ORPHA:521308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Bidirectional ventricular ectopy, Small finger, Hypoplasia of the maxi... OMIM:170390
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... ORPHA:3033
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Conductive hearing impairment, Hydrocephalus, Malar flattening, Brach... ORPHA:93262
Weill-Marchesani Syndrome 2
High palate, Thin bony cortex, Ventricular septal defect, Hypoplasia of the maxilla, Broad ribs, ... OMIM:608328
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... OMIM:224690
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... OMIM:114290
C Syndrome
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Omphal... OMIM:211750
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Pulmonary valve atresia, Sensorineural hearing impairment, Conductive h... ORPHA:96129
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Apert Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, R... OMIM:101200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Omphalo... ORPHA:887
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Tracheoesophageal fistula, Short neck, Omphalocele, Vertebral segmentation defect,... ORPHA:1834
Subaortic Stenosis--Short Stature Syndrome
Pectus excavatum, Membranous subvalvular aortic stenosis, Barrel-shaped chest, Short neck, Broad ... OMIM:271960
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Hem... ORPHA:7
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of the dentition, Abnormal bone structure, Abnormal epiphysis morph... ORPHA:1306
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Duodenal atresia, Butterfly vertebrae, Pectus excavatum, Muscular ventricular s... OMIM:619227
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, 11 pairs of ribs, Ventricular septal defect, Delayed closure of the a... OMIM:607872
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Short neck, Tapered finger, Heart murmur, Ventricular s... OMIM:158170
Weill-Marchesani Syndrome 1
Thin bony cortex, Ventricular septal defect, Hypoplasia of the maxilla, Broad ribs, Proportionate... OMIM:277600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... ORPHA:3035
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... OMIM:130720
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Talipes equinovarus, Short stature, Camptodactyly of finger, Tapered... ORPHA:85279
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ribs, Cleft pa... OMIM:253290
Hydrolethalus
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Arrhinencep... ORPHA:2189
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Platyspondyly, Micromelia, Hypoplasia of the capital femoral epiphysis, Hypoplastic... ORPHA:85166
Marshall-Smith Syndrome
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Sle... OMIM:602535
Sialidosis Type 2
Kyphosis, Flexion contracture, Inguinal hernia, Short stature, Hydrops fetalis, Osteoporosis, Pec... ORPHA:87876
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:601390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Narrow chest, Abnormal bone ossification, Postnatal growth retard... ORPHA:73230
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:615546
Fountain Syndrome
Wide mouth, Pectus excavatum, Facial edema, Thick lower lip vermilion, Short distal phalanx of fi... ORPHA:3219
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Flexion contracture, Thin vermilion border, Micrognathia, Nonimm... OMIM:608540
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Kyphosis, High palate, Pectus excavatum, Scoliosis, Pectus carinatum, Long palm, Hy... OMIM:300676
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Single transverse palmar crea... ORPHA:254528
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Platyspondyly, Ventricular septal defect, A... ORPHA:354
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Holoprosencephaly 7
Hypoplasia of the premaxilla, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Macroti... OMIM:610828
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodact... OMIM:246560
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Meckel Syndrome, Type 1
Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the ureter, Hypoplas... OMIM:249000
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atriu... OMIM:615524
Pseudodiastrophic Dysplasia
Talipes equinovarus, Malar flattening, Platyspondyly, Scoliosis, Phalangeal dislocation, Rhizomel... ORPHA:85174
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... OMIM:600920
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Abnormal lung lobation, Postaxial hand polydactyl... ORPHA:945
Asymmetric Short Stature Syndrome
Dental crowding, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short statu... OMIM:108450
Meckel Syndrome, Type 8
Cleft upper lip, Low-set ears, Talipes equinovarus, Cleft palate, Short neck, Anophthalmia, Polyd... OMIM:613885
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Micromelia, Symphalangism affecting... ORPHA:628
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... OMIM:618363
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, ... OMIM:615982
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Anterior beakin... OMIM:253000
Dysostosis, Stanescu Type
Pectus excavatum, Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Abnormal e... ORPHA:1798
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Myhre Syndrome
Cleft palate, Cone-shaped epiphysis, Platyspondyly, Short neck, Birth length less than 3rd percen... OMIM:139210
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Wide mouth... ORPHA:1394
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Hydrocephalus With Associated Malformations
Hydrocephalus, Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary ... OMIM:236640
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Scoliosis, Tapered finger, Long fingers, Hy... OMIM:218000
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Abnormal sternum morphology, Epiphyseal ... ORPHA:166016
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... OMIM:617926
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Dispro... OMIM:200600
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturatio... OMIM:101800
Acrodysostosis
Accelerated skeletal maturation, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Del... ORPHA:950
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Holoprosencephaly, Scoliosis, Anterior encephalocele, Ventricular s... OMIM:601357
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Micropenis, Hypospadias, Ureteral duplication, Short thumb, Ven... OMIM:617516
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Distal Xq28 Microduplication Syndrome
High palate, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema, Open mouth, ... ORPHA:293939
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Hypo... OMIM:143095
Vacterl With Hydrocephalus
Hydrocephalus, Hypoplasia of the radius, Hemivertebrae, Tracheoesophageal fistula, Anotia, Pulmon... ORPHA:3412
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy, Hematuria, H... OMIM:614034
Frontorhiny
Lumbar hyperlordosis, Basal encephalocele, Congenital conductive hearing impairment, Cleft palate... ORPHA:391474
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Anal... OMIM:264480
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Camptodactyly of finger, Ulnar deviation of the w... ORPHA:1529
Metatropic Dysplasia
Hydrocephalus, Halberd-shaped pelvis, Cleft palate, Micromelia, Long thorax, Abnormal metaphysis ... ORPHA:2635
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Platyspondyly, ... OMIM:253010
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Conductive hearing... ORPHA:1393
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Lipoatrophy, Thin vermilion border, Osteopenia, Delayed cranial... OMIM:601812
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... ORPHA:37553
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of ... ORPHA:99772
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Pectus excavatum, Prominent fingertip pads, Cleft palate, Ventricul... OMIM:180849
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Charge Syndrome
Aplasia of the semicircular canal, Cleft palate, Hemivertebrae, Tracheoesophageal fistula, Down-s... OMIM:214800
Yunis-Varon Syndrome
Hydrocephalus, Abnormal pinna morphology, Slender long bones with narrow diaphyses, Absent thumb,... ORPHA:3472
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, In... ORPHA:2780
Apert Syndrome
Vertebral segmentation defect, Ectopic anus, Hydrocephalus, Narrow palate, Sensorineural hearing ... ORPHA:87
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Short stature, Abnormality of the dentition, Osteolysis, Hypoplas... ORPHA:2776
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Anencephaly, Micromelia, Ventricular septal defect, Mandibular progn... ORPHA:1908
Bartsocas-Papas Syndrome 1
Absent thumb, Cleft palate, Short neck, Oral synechia, Hypoplasia of the maxilla, Omphalocele, Mi... OMIM:263650
Diabetic Embryopathy
Vertebral segmentation defect, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Cleft palate,... ORPHA:1926
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Short toe, 2-3 toe syndactyly, Everted lower lip... OMIM:164280
Camurati-Engelmann Disease, Type 2
Hip contracture, Lower limb pain, Osteopenia, Mitral regurgitation, Thoracolumbar scoliosis, Mitr... OMIM:606631
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal defect, Sandal gap,... ORPHA:261330
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic ky... ORPHA:530983
Orofaciodigital Syndrome Type 10
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... ORPHA:2756
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
3Mc Syndrome 1
Abnormality of the abdominal wall, Cleft palate, Radioulnar synostosis, Ventricular septal defect... OMIM:257920
Keipert Syndrome
Short distal phalanx of finger, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... ORPHA:2662
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Gracile Bone Dysplasia
Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Ankyloglossi... OMIM:602361
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Short stature, Abnormality of ... OMIM:109120
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Cleft palate, Short ribs, Barrel-shaped chest, Hydrops... OMIM:200610
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... OMIM:614091
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Short stature, Camp... ORPHA:2021
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... OMIM:300209
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Pectus excavatum, Atrial septal defect, Abnormally folded helix, Flexion contracture... OMIM:309520
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... OMIM:615993
Marfan Syndrome
Tricuspid valve prolapse, Reduced subcutaneous adipose tissue, Mitral annular calcification, Pect... OMIM:154700
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Short stature, Hemivertebrae, Spina ... OMIM:613686
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Congenital diaphragmatic hernia... ORPHA:1335
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Ventricular septal defect, Umbilical hernia, High, nar... ORPHA:2789
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Craniosynostosis, Abnormality of the de... ORPHA:178303
Ehlers-Danlos Syndrome, Classic Type, 1
Pectus excavatum, Joint dislocation, Bruising susceptibility, Inguinal hernia, Hyperextensibility... OMIM:130000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, High palate, Pectus excavatum, Hiatus hernia, Cleft palate, Umbilical h... OMIM:601776
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sensorineural hearing impairment, Conductive h... OMIM:118100
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Cleft palate, Delayed eruption of teeth, Single transverse pal... OMIM:247200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... OMIM:135100
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... ORPHA:2473
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Atrial septal defect, Absent thumb, Short stature, Hypoplasia of t... OMIM:609053
Kbg Syndrome
Cleft palate, Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Finge... ORPHA:2332
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Pectus excavatum, Furrowed tongue, Hypoplasia of the maxilla, Mandibular prognathia,... OMIM:300534
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Short lingual frenulum, ... ORPHA:2326
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Hydrocephalus, Abnormal pinna morphology, Atrial septal defect, Congenital diaphrag... OMIM:616546
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Syndactyly, Brac... OMIM:613005
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Rig... OMIM:147770
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Ventricular sep... ORPHA:96170
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate, Hand oligodactyly OMIM:172880
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Protruding ear, Flexion contracture, Arachnodactyly, Thin vermilion border, Overfold... ORPHA:481152
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... OMIM:156530
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Short clavicles, Atrial septal defect, Short stature, Cupped ear, Wormian bones, Te... OMIM:617159
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... ORPHA:949
Fryns Syndrome
Wide mouth, Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Short neck, Ventri... OMIM:229850
Codas Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Delayed eruption of teeth, Crumpled ea... OMIM:600373
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Omphalocele, Anteriorly pl... OMIM:616894
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Pterygi... ORPHA:371428
Pallister-Hall Syndrome
Cleft palate, Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Umbilical ... ORPHA:672
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia... ORPHA:2975
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Ulnar deviation of the hand, Malar flattening, Ulnar deviation ... OMIM:122880
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... ORPHA:794
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Trisomy 20P
Abnormal antihelix morphology, Abnormality of the dentition, Short philtrum, Platyspondyly, Short... ORPHA:261318
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Pulmonary ... ORPHA:2059
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Pulmon... ORPHA:50945
Bardet-Biedl Syndrome 12
Abnormality of the kidney, Polydactyly OMIM:615989
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Bicuspid aortic valve, Conductive hearing impairment, Protruding ear, Cleft palate,... OMIM:616367
Alg9-Cdg
Wide mouth, Short neck, Ventricular septal defect, Lipodystrophy, Rhizomelia, Pulmonary hypoplasi... ORPHA:79328
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... OMIM:268310
Frank-Ter Haar Syndrome
Wide mouth, Short philtrum, Delayed eruption of teeth, Osteolysis, Umbilical hernia, Mandibular p... ORPHA:137834
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Hypoplasia of the ... OMIM:257850
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Congenital hip dislocation, Short neck, Down-sloping... OMIM:114300
Sweeney-Cox Syndrome
High palate, Anal atresia, Narrow mouth, Short clavicles, Cleft palate, Short philtrum, Cutaneous... OMIM:617746
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, V... OMIM:611209
Mend Syndrome
High palate, Kyphosis, Hydrocephalus, Overlapping toe, Aortic valve stenosis, Microretrognathia, ... OMIM:300960
Phaver Syndrome
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Radioulnar... ORPHA:2876
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia, Short stature, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle pha... ORPHA:1436
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Vertebral segmentation def... ORPHA:1988
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Short stature, Hydrops fetalis, Abnormality of limb bone morpholo... ORPHA:2204
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Short neck, Ventricular septal defect, Median cleft... ORPHA:2162
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, High palate, Hydrocephalus, Abnormal antihelix morphology, Abnormal hel... ORPHA:261337
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly, Micropenis OMIM:615983
Peters-Plus Syndrome
Hydrocephalus, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Birth... OMIM:261540
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Crumpled ear, Pectus carinatum, Heart murmur, Abnormal cardiac ventricl... ORPHA:284979
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bod... OMIM:230500
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Abnormality ... OMIM:192430
Catel-Manzke Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Short neck, Pectus carina... OMIM:616145
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Wide anterior fontanel, Atrial septal defect, Promi... OMIM:614886
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Short stature, Microtia, Micrognathia, Birth length less than 3rd ... OMIM:613804
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... ORPHA:957
Cardiospondylocarpofacial Syndrome
Wide mouth, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defect,... OMIM:157800
Cranioectodermal Dysplasia 2
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Short neck, Microdontia, Rhizomeli... OMIM:613610
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Occipital encephalocele OMIM:614416
Ring Chromosome 21 Syndrome
Holoprosencephaly, Fused thoracic vertebrae, Small hand, Short stature, Scoliosis, Syndactyly, Na... ORPHA:1445
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypodontia, Inguinal hernia, Everted lower lip vermilion, Short philtrum, Microdon... OMIM:601499
Pfeiffer Syndrome
High palate, Hydrocephalus, Elbow ankylosis, Finger syndactyly, Coronal craniosynostosis, Short m... OMIM:101600
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Abnormal thorax mo... OMIM:164180
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Short stature, Everted upper lip vermilion, Abnor... OMIM:182290
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricu... ORPHA:2369
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Narrow palate, Multiple suture craniosynostosis, Hy... ORPHA:207
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Hypoplasia of the maxilla, Protruding ear OMIM:618302
Geroderma Osteodysplasticum
Osteopenia, Femoral bowing, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the maxilla,... OMIM:231070
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Narrow mouth, Talipes equinovarus, Tracheomalacia, Pulmonic stenos... ORPHA:314679
Simpson-Golabi-Behmel Syndrome
Wide mouth, Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Cleft p... ORPHA:373
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Anophthalmia, Low-set, posteriorly rotated ears, Dev... ORPHA:1104
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Lymphedema, Atypical scarring of skin... ORPHA:2485
Pseudoaminopterin Syndrome
High palate, Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly,... ORPHA:221120
Neu-Laxova Syndrome 2
High palate, Intrauterine growth retardation, Cleft palate, Micrognathia, Short neck, Scoliosis, ... OMIM:616038
Frontometaphyseal Dysplasia 2
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Short philtrum, Congenita... OMIM:617137
Neu-Laxova Syndrome 1
Cleft palate, Short neck, Micromelia, Small placenta, Ventricular septal defect, Pulmonary hypopl... OMIM:256520
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Accelerated skeletal maturation, Abnormally ossified vertebra... ORPHA:175
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... OMIM:610205
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Platyspondyly, Joint stiffness, Spondylolisthesis, Micrognathia, ... OMIM:108300
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios, Pulmonary hyp... OMIM:613124
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... OMIM:614701
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Scoliosis, Vasculitis, Arthritis, Inflammation of the large intestine, Osteolysis,... ORPHA:324964
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Omphalocele, ... OMIM:614450
Meier-Gorlin Syndrome 5
Short stature, Microtia, Micrognathia, Prominent metopic ridge, Birth length less than 3rd percen... OMIM:613805
Carpenter Syndrome
Preaxial foot polydactyly, Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial... ORPHA:65759
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ma... ORPHA:1488
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... OMIM:190685
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Short stature, Coronal craniosynostosis, Micrognathia, Small hand, Long phi... OMIM:145420
Zttk Syndrome
High palate, Craniosynostosis, Hemivertebrae, Abnormality of the dentition, Short philtrum, Ventr... OMIM:617140
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short neck, Pectus ca... ORPHA:1507
Fanconi Anemia, Complementation Group O
Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Renal cyst, Hydronep... OMIM:613390
Stickler Syndrome
Cleft palate, Platyspondyly, Advanced eruption of teeth, Pectus carinatum, Genu valgum, Abnormal ... ORPHA:828
Iniencephaly
Hydrocephalus, Anencephaly, Rhizomelia, Omphalocele, Rocker bottom foot, Encephalocele, Anal atre... ORPHA:63259
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinatum, Carious te... ORPHA:582
Mucopolysaccharidosis Type 7
Joint stiffness, Enlarged thorax, Inguinal hernia, Abnormal hip bone morphology, Anterior beaking... ORPHA:584
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Cleft palate, Camptodactyly of finger, Finger clinodactyly, Brachy... ORPHA:306542
Nager Syndrome
Joint stiffness, Wide mouth, Cleft palate, Microtia, Hypoplasia of the radius, Micrognathia, Low-... ORPHA:245
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Malfor... OMIM:614175
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Spatulate ribs, Intrauterine growth retardation, Short long bone... ORPHA:79255
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Preaxial h... ORPHA:564
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... OMIM:606842
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Short sternum, Congenital diaphragmatic... OMIM:222448
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormality of upper lip, Polyhydramnios, Omphalocele, Growth del... ORPHA:531
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Malar flattening, Craniosynostosis, Short stature, Micrognathia, C... ORPHA:2145
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Sensorineural hearing impairment,... ORPHA:2549
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Anotia, Abnormal epiphysis morphology, Hypoplasia of the maxilla,... ORPHA:2554
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Cleft palate, Short neck, Sco... OMIM:618469
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Cleft palate, Short neck, Umbilical hernia, Intrauterine growt... ORPHA:2311
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Mandi... ORPHA:3082
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Short stature, Coronal craniosynos... ORPHA:2095
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Decreased number of sternal ossification centers, Microphthalmia, ... OMIM:234100
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... OMIM:615994
Prune Belly Syndrome
Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defect, Congenital post... ORPHA:2970
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short fi... OMIM:134780
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Urethral st... ORPHA:1727
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphol... ORPHA:971
Neu-Laxova Syndrome
Cleft palate, Osteopenia, Micromelia, Pulmonary hypoplasia, Pterygium, Trismus, Intrauterine grow... ORPHA:2671
Mosaic Trisomy 14
Narrow chest, High palate, Wide mouth, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Cleft ... ORPHA:1703
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Inguinal hernia, Reduced bone mineral density, Abnormal hip bo... ORPHA:577
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Pulmonary hypoplasia, S... OMIM:263520
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... OMIM:603194
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... OMIM:607361
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia, Tracheomalacia, Microtia, Micrognathia, Tracheoes... ORPHA:268249
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Inguinal hernia, Short stature, Small hand, ... ORPHA:281
Say Syndrome
Short distal phalanx of finger, Cleft palate, Ulnar deviation of the 3rd finger, Proximal renal t... OMIM:181180
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Cleft palate, Hemivertebrae, Macrodontia, Vaginal hernia, Mandibul... ORPHA:2916
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Clinodactyly of the 5th fin... OMIM:301022
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Cleft palate, Overfolded helix, Abnormality of the dentition, S... ORPHA:567
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Carious teeth... ORPHA:1110
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Pursed lips, Inguinal hernia, Microtia, Micrognathia, Coat hange... ORPHA:254519
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... OMIM:300484
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth f... OMIM:251255
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... ORPHA:1801
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Abnormality of the urinary system, Median cleft lip... DECIPHER:46
Focal Dermal Hypoplasia
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... OMIM:305600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... OMIM:618142
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... ORPHA:1328
Acrofacial Dysostosis, Catania Type
Pectus excavatum, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Intra... ORPHA:1786
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Large placenta, Ventricular septal defect, Polyhydramn... ORPHA:254534
Meier-Gorlin Syndrome 3
Birth length less than 3rd percentile, Hypoplasia of the maxilla, Delayed skeletal maturation, In... OMIM:613803
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... ORPHA:261243
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplicati... OMIM:263630
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... ORPHA:980
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, High palate, Low-set ears, Lumbar hyperlordosis, Sensorineural h... OMIM:617796
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Intest... ORPHA:2143
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Carious teeth, Dis... OMIM:253200
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly... OMIM:611561
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... OMIM:600001
Schisis Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Anencepha... ORPHA:63862
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Short stature, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia ORPHA:93950
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Hiatus hernia, Osteopenia, Orthostatic hypotension, Phalangeal dislocat... ORPHA:287
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal ... OMIM:236680
Fryns Microphthalmia Syndrome
Abnormality of the ear, Abnormality of the vertebral column, Anophthalmia, Macrotia, Neural tube ... OMIM:600776
Yunis-Varon Syndrome
High palate, Absent thumb, Decreased calvarial ossification, Congenital hip dislocation, Cutaneou... OMIM:216340
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormality of the abdominal wall, Hydrocephalus, Accelerated skeletal maturation, Cleft palate, ... OMIM:245600
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Broad long bones, Disproportionate short-limb short stature, ... OMIM:166210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Narrow mouth, Thin ribs, Long clavicles, Retrognathia, Contracture of the distal... ORPHA:83617