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Gene: Rfng MGI:894275

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms:
radical fringe

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Rfng 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... ORPHA:294975
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, Fibular hypoplasia,... OMIM:201170
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... OMIM:225280
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Pyknoachondrogenesis
Stillbirth OMIM:265880
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... ORPHA:1406
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... ORPHA:376
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:3201
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... ORPHA:957
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th... ORPHA:521308
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, For... OMIM:251230
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate ORPHA:168624
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Aase-Smith Syndrome
Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov... ORPHA:916
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival... OMIM:618529
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Enamel hypoplasia OMIM:226700
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... OMIM:613684
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... OMIM:616331
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... ORPHA:3016
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly OMIM:615984
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar flattening, Long ... ORPHA:166100
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... OMIM:147891
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl... ORPHA:166024
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... OMIM:600325
Uvula, Bifid
Bifid uvula OMIM:192100
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... OMIM:225060
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia... OMIM:113000
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... OMIM:246560
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue... OMIM:258860
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Short foot, Wide mouth, Median pseudocleft lip, Clinodactyly of the 5th finger, Retrognathia, Oli... OMIM:619758
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... ORPHA:2251
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... OMIM:619736
Pallister-Hall Syndrome
Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... OMIM:146510
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... ORPHA:2751
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... ORPHA:710
Schilbach-Rott Syndrome
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... OMIM:164220
Monosomy 5P
Microretrognathia, Finger syndactyly, High palate, Small hand ORPHA:281
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Stickler Syndrome, Type Ii
Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft pal... OMIM:604841
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t... ORPHA:3152
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Short distal phala... OMIM:181180
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion OMIM:613576
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Summitt Syndrome
Syndactyly OMIM:272350
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... ORPHA:2994
Cleft Soft Palate
Cleft soft palate OMIM:119570
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... OMIM:612292
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb, Short mandibular rami,... OMIM:141400
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... ORPHA:1825
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Moebius Syndrome
Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Split hand, Abnormal pelvi... OMIM:157900
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula, Finger joint hypermobility OMIM:601492
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation... OMIM:108721
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 4-5 toe syndactyly, 2-3 toe cutaneous syndactyly, Cutaneous... OMIM:613573
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Deep philtrum, Large hands,... ORPHA:3447
Hypomelanosis Of Ito
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... OMIM:300337
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... OMIM:617412
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... OMIM:609166
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Postaxial Acrofacial Dysostosis
Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus hernia, Abnormali... ORPHA:2538
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Anal stenosis, Micrognathia, Hypoplasia of th... OMIM:263650
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, T... OMIM:272440
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Brachyda... ORPHA:2145
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Cree Mental Retardation Syndrome
Cleft soft palate, Cutaneous finger syndactyly, Rocker bottom foot, Micrognathia OMIM:606851
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve... OMIM:614701
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... OMIM:123150
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Hydrolethalus
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft... ORPHA:2189
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar crease, High pala... OMIM:619451
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... ORPHA:570
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... ORPHA:2980
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas... OMIM:614900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... OMIM:217085
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... OMIM:617201
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia OMIM:619092
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:1234
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly OMIM:601357
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Patellar... OMIM:613805
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ... ORPHA:178303
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, B... OMIM:218600
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, High, nar... ORPHA:2879
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Abnormal palate morphology ORPHA:251046
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... ORPHA:2839
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Sti... OMIM:236500
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho... ORPHA:1323
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... OMIM:619314
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,... ORPHA:1786
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... OMIM:608670
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... OMIM:615777
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i... ORPHA:2780
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia OMIM:119580
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Cleft p... ORPHA:1512
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... OMIM:305400
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... ORPHA:1787
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... ORPHA:2920
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation OMIM:601163
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Narrow mouth, Intestinal lymphangiectasia, Camptodactyly OMIM:616006
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Loeys-Dietz Syndrome 5
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... OMIM:615582
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb ORPHA:293725
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor... OMIM:263750
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced... ORPHA:199
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... OMIM:311900
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... ORPHA:1300
Diamond-Blackfan Anemia 6
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Retrognathia, Bifi... OMIM:612561
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly... ORPHA:397590
Rapp-Hodgkin Syndrome
Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... OMIM:129400
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... ORPHA:2588
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum ORPHA:1252
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... OMIM:619122
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Short palm, Ret... ORPHA:73246
Stickler Syndrome, Type I
Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Ro... OMIM:108300
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H... OMIM:619762
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Finger syndactyly, Branchial cyst, Thin upper lip vermilion, Dental crowdi... ORPHA:435938
Kbg Syndrome
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Cleft palate, Cutaneous s... ORPHA:2332
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Pallister-Hall Syndrome
Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl... ORPHA:672
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Deep philtrum, Abnormal palate morphology ORPHA:2475
Larsen Syndrome
Finger syndactyly, Brachydactyly, Accessory carpal bones, Cleft palate, Abnormal epiphysis morpho... ORPHA:503
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor... OMIM:222765
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th... ORPHA:1225
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly OMIM:616589
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Broad hall... OMIM:154400
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia ORPHA:99742
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve... OMIM:618505
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Deviation of the 2nd finger, Oro... ORPHA:1305
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Downturned corners of mouth, Cl... OMIM:180860
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus addu... OMIM:123450
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... ORPHA:2754
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... OMIM:612651
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... ORPHA:251014
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Tracheoes... ORPHA:2437
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... ORPHA:783
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Abnormality of the hand, Downturned corners of mouth, Macroglo... ORPHA:369891
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Smooth philtrum OMIM:602501
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... ORPHA:1692
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Hand polydactyly, High palate, Broad thumb OMIM:239710
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Native American Myopathy
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Campto... ORPHA:168572
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly ORPHA:2890
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... OMIM:300990
Hamamy Syndrome
Long toe, Syndactyly, Thin upper lip vermilion, Down-sloping shoulders, Micrognathia, Tapered fin... OMIM:611174
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Clef... ORPHA:2008
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... OMIM:619148
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly, Hamartoma of tongue ORPHA:1338
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion... OMIM:614800
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... ORPHA:158687
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... OMIM:605039
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia ORPHA:1514
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath... ORPHA:1908
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent... OMIM:305450
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... ORPHA:3103
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea... ORPHA:59315
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p... OMIM:617895
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, A... ORPHA:2658
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agen... OMIM:616894
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... OMIM:612863
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Micrognathia, Pierre-Robin sequence, Cleft palate, Anter... OMIM:217980
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate OMIM:616038
Ritscher-Schinzel Syndrome 1
Syndactyly, Anal atresia, Cleft palate, Micrognathia OMIM:220210
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single tra... ORPHA:464738
Triploidy
Finger syndactyly, Intestinal malrotation, Micrognathia, Non-midline cleft lip, Cleft palate, Wid... ORPHA:3376
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned cor... OMIM:614230
Laurence-Moon Syndrome
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases ORPHA:2377
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... OMIM:122470
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Elbow disloc... ORPHA:2554
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq... ORPHA:199302
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Wide mouth, Thin vermilion border,... ORPHA:217346
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon... OMIM:269500
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... OMIM:619680
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate ORPHA:250999
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa... ORPHA:3224
Joubert Syndrome 33
Syndactyly OMIM:617767
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep philtrum, Dental malocclus... OMIM:227330
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of... ORPHA:284160
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Narrow mouth,... OMIM:617746
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndact... ORPHA:87
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Brachydactyly, Death in infancy, Proximal placement of thumb, Tali... OMIM:615789
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Cleft palate ORPHA:66629
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Retrognathia, Small hand OMIM:616489
Alkuraya-Kucinskas Syndrome
Overlapping toe, Micrognathia, Cutaneous syndactyly, High palate, Talipes equinovarus, Camptodact... OMIM:617822
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat... OMIM:618316
Ring Chromosome 21 Syndrome
Syndactyly, Clinodactyly, Small hand, Narrow palm ORPHA:1445
3C Syndrome
Finger syndactyly, Death in infancy, Intestinal malrotation, Micrognathia, High, narrow palate, O... ORPHA:7
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Micrognathia, High, narrow palate,... ORPHA:96182
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... ORPHA:2473
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Dental crowding, Single tra... ORPHA:93932
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hypoplasia of t... ORPHA:794
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad... ORPHA:1942
Constricting Bands, Congenital
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus OMIM:217100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Eclabion, Thin upper lip vermilion, Cleft soft palate, Tapered finger, Lon... OMIM:619950
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Thin vermilion border, Short philtrum, Clinodactyly of the... ORPHA:3255
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Micrognathia, Narrow mout... OMIM:265000
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... ORPHA:235
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... ORPHA:1005
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... ORPHA:2636
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Clinodactyly OMIM:618087
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi... ORPHA:1974
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat... OMIM:619103
Oculodentodigital Dysplasia
Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, Clinodactyly, 4-5 finger s... OMIM:164200
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Cleft palate, Deep palmar crease, Thin vermilion borde... ORPHA:254346
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... OMIM:276820
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb ORPHA:139471
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Pyloric stenosis, Small hand,... ORPHA:1001
Desmosterolosis
Intestinal malrotation, Micromelia, Micrognathia, Metatarsus adductus, Submucous cleft hard palat... ORPHA:35107
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Micrognathia, Aplasia... OMIM:151050
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly ORPHA:60040
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Deep philtrum, Thin lower lip vermilion, Elbow flexion... OMIM:619194
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Branchioskeletogenital Syndrome
Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of ... ORPHA:1299
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p... ORPHA:2886
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal... OMIM:607323
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodactyly of finger, Abnormality of t... ORPHA:2273
Neu-Laxova Syndrome
Abnormality of the philtrum, Micromelia, Micrognathia, Trismus, Submucous cleft hard palate, Clef... ORPHA:2671
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... OMIM:119500
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Velocardiofacial Syndrome
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... OMIM:192430
Ring Chromosome 12 Syndrome
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Clin... ORPHA:1439
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly... OMIM:620029
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Cerebrofacioarticular Syndrome
Syndactyly, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Narrow m... ORPHA:314679
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomel... ORPHA:97360
Diamond-Blackfan Anemia
Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,... ORPHA:124
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Preaxial ... ORPHA:261318
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... ORPHA:2363
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee... OMIM:223370
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, High palate OMIM:614520
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... OMIM:601707
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo... ORPHA:1517
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro... ORPHA:96201
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... OMIM:305600
Acromelic Frontonasal Dysostosis
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... OMIM:603671
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Long Qt Syndrome 8
Syndactyly OMIM:618447
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Clubbing, Thin vermilion border, High palate,... ORPHA:96123
Tolchin-Le Caignec Syndrome
Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl... OMIM:618971
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... ORPHA:3472
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the dentition, D... OMIM:115150
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Kbg Syndrome
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cutaneous s... OMIM:148050
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... OMIM:619879
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... ORPHA:457279
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate, Micrognathia ORPHA:2282
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, Supernumerary ... OMIM:300166
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Duodena... OMIM:619227
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Downturned corners of mouth, Short p... ORPHA:264200
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Sub... ORPHA:2461
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe... ORPHA:268261
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal palmar dermatoglyphics, A... ORPHA:2092
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swollen lip, Lon... OMIM:256520
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Congenital hip dislocation, High palate OMIM:104350
Timothy Syndrome
Microdontia, Thin upper lip vermilion, Cutaneous syndactyly OMIM:601005
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Clinodactyly, Anteriorly placed anus, W... ORPHA:1708
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Short philtrum, Wi... OMIM:300967
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent hand, Abnormal... ORPHA:974
Hartsfield Syndrome
Syndactyly, Median cleft lip, Cleft upper lip, Cleft palate, Ectrodactyly, Hypoplasia of the fron... OMIM:615465
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Hyperplasia of... OMIM:268300
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the tongue, Orofacial cl... ORPHA:2990
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Short lingual frenulum, Unilateral brachydactyly, Wide mouth, High palate, Aplasia/Hy... ORPHA:1521
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Cleft palate, Long philtrum ORPHA:2311
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Prader-Willi Syndrome
Syndactyly, Thin upper lip vermilion, Carious teeth, Acromicria, Small hand, Narrow palm, Genu va... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Smooth philtrum, Long philtrum OMIM:616430
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Cleft palate, Broad philtrum, F... OMIM:613610
Fraser Syndrome 3
Short toe, Stillbirth, Cutaneous syndactyly, Micrognathia OMIM:617667
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome... ORPHA:818
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... ORPHA:978
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesophageal fistula, C... ORPHA:887
Kindler Epidermolysis Bullosa
Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Premature loss of ... ORPHA:2908
Meckel Syndrome, Type 1
Natal tooth, Bowing of the long bones, Syndactyly, Thin upper lip vermilion, Camptodactyly of fin... OMIM:249000
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ... OMIM:180849
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Submucous cleft hard palate, Genu valgum, Deep palmar crease, Palmop... ORPHA:1340
Adams-Oliver Syndrome 5
Syndactyly, Esophageal varix, Brachydactyly OMIM:616028
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Abnormality of the upper limb, ... ORPHA:1556
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe synda... ORPHA:373
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Clino... ORPHA:3047
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... OMIM:301043
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Talipes equinovarus, Micrognathia OMIM:601374
Restrictive Dermopathy 1
Natal tooth, Rocker bottom foot, Micrognathia, Submucous cleft hard palate, Temporomandibular joi... OMIM:275210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... OMIM:619472
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum OMIM:619321
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... ORPHA:79500
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t... OMIM:149730
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:2136
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Cleft soft palate OMIM:614557
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, Polydactyly, High palate, Retrognathia OMIM:619869
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... OMIM:261540
Zttk Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Small hand,... OMIM:617140
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Intestinal malrotation... ORPHA:2308
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly ORPHA:2169
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... ORPHA:464
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... OMIM:619539
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion... ORPHA:1519
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Eosinophili... OMIM:610168
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short hard palate, Genu varum ORPHA:1969
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261537
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Micrognathia, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, Broad alveolar ... OMIM:616975
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... OMIM:236700
Fontaine Progeroid Syndrome
Mandibular prognathia, Syndactyly, Thin upper lip vermilion, Death in infancy, Micrognathia, Prot... OMIM:612289
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely space... ORPHA:2152
Bloom Syndrome
Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodactyly of the 5th fing... OMIM:210900
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Wiedemann-Rautenstrauch Syndrome
Long toe, Natal tooth, Short humerus, Short femur, Thin upper lip vermilion, Camptodactyly of fin... ORPHA:3455
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261552
Coffin-Siris Syndrome 12
Micrognathia, Hip subluxation, Short thumb, Slender finger, Velopharyngeal insufficiency, Submuco... OMIM:619325
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly ORPHA:110
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Ag... OMIM:181270
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... ORPHA:2911
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb ORPHA:2211
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon ... ORPHA:353277
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... OMIM:107480
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Syndactyly, Scapular winging, Short metacarpal, Chronic gastritis, Single ... OMIM:150230
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Absent thumb, Hypoplasia of the maxilla, Cleft palate, Downturned corners of mout... ORPHA:500150
Degcags Syndrome
Smooth philtrum, Syndactyly, Toe syndactyly, Jejunal atresia, Micrognathia, Protruding tongue, Sh... OMIM:619488
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Submucous cleft hard palate, Abnor... OMIM:607872
Microphthalmia, Syndromic 1
Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cleft upper... OMIM:309800
Fraser Syndrome
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Death in infancy, Cleft upper ... ORPHA:2052
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Cleft upper lip, Shor... OMIM:113620
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... ORPHA:1587
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Anal atresia OMIM:617666
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Long fingers, Cutaneous syndactyly, ... OMIM:620330
Charge Syndrome
Hypoplasia of the ulna, Anal stenosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, M... OMIM:214800
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th... OMIM:620025
Restrictive Dermopathy
Natal tooth, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Temporomandibula... ORPHA:1662
Congenital Fibrosis Of Extraocular Muscles
Hand oligodactyly ORPHA:45358
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po... OMIM:192350
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Jejunal atresia, Ileal atresia, Micrognathia, Long philtrum OMIM:618820
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Proteus Syndrome
Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val... ORPHA:744
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Broad first metatarsal, Esophageal varix, Polydactyly, Everted... OMIM:619534

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rfng

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rfng.

No publications found that use IMPC mice or data for Rfng.

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