Gene Summary

Name:
polycomb group ring finger 3
Synonyms:
DONG1,  RNF3A,  Rnf3,  D630042K08Rik,  2310035N15Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
syndactyly Pcgf3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Pcgf3em1(IMPC)Bay HOM   Early adult 0.00
abnormal tail morphology Pcgf3em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Pcgf3em1(IMPC)Bay HOM E18.5 0.00
abnormal limb morphology Pcgf3em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Pcgf3em1(IMPC)Bay HOM E18.5 0.00
decreased prepulse inhibition Pcgf3em1(IMPC)Bay HET Early adult 5.47×10-05
facial cleft Pcgf3em1(IMPC)Bay HOM E18.5 0.00
polydactyly Pcgf3em1(IMPC)Bay HOM E18.5 0.00
microphthalmia Pcgf3em1(IMPC)Bay HOM E18.5 0.00
cleft palate Pcgf3em1(IMPC)Bay HOM E18.5 0.00
hyperactivity Pcgf3em1(IMPC)Bay HET Early adult 1.07×10-05

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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.

MicroCT E18.5

Embryo reconstruction

6 Images

Human diseases caused by Pcgf3 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 Pcgf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate OMIM:600251
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Soli... ORPHA:952
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Apl... ORPHA:1794
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Bilate... OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ... OMIM:311895
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Postaxial hand p... ORPHA:2935
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Small thenar ... OMIM:239800
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Split foot ORPHA:3434
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft p... OMIM:616570
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha... DECIPHER:46
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Bilateral single transverse palmar creases, Clinodactyly of the ... ORPHA:2216
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Cleft pa... ORPHA:376
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnormality of the philtr... ORPHA:3268
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Cleft palate, Split hand, Split foot OMIM:183700
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Microphthalmia, Widely-spaced maxillary central inc... OMIM:601349
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, Selective tooth agenesis, Widely spaced tee... OMIM:225280
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palat... OMIM:217100
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Narrow mouth, Abnormal metacarpal morphology, Triphalangeal th... ORPHA:1406
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Han... ORPHA:1647
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Syndactyly, Scapular winging, Cleft palate, Upper limb amyotrophy ORPHA:2901
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ... ORPHA:1236
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Supernumerary Nostril
Tessier cleft ORPHA:141096
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Mic... ORPHA:2117
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, P... OMIM:258860
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin... OMIM:613885
Nanophthalmos 2
Microphthalmia OMIM:609549
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft ... OMIM:248340
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Mosaic Trisomy 9
Tessier cleft, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Intes... ORPHA:99776
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... OMIM:102510
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Microphthalmia, Cleft palate ORPHA:261272
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc... OMIM:300244
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Microphthalmia, Submucous cleft hard palat... ORPHA:2712
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Bartsocas-Papas Syndrome 2
Small hand, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2-5 finger cuta... OMIM:619339
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Microphthalmia,... OMIM:263650
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Narrow mouth, Com... ORPHA:363417
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Pre... ORPHA:380
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Microphthalmia, Foot polydactyly, Shor... ORPHA:268249
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Arachnodactyly, Long toe, Large hands, Cleft palate OMIM:300263
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Microphthalmia, ... OMIM:615665
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wrinkling of pa... ORPHA:487825
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Triangular mouth, Cutaneous syndactyl... ORPHA:166024
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Abnormal palate morphology, Brachydactyly, Microphthalmia, ... ORPHA:1777
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Microphthalmia, Prominent... OMIM:602342
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Bowing of the long bone... OMIM:614815
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m... ORPHA:306542
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Lobulated tongue, Flared metaphysis, Preaxial hand polydactyly, Preax... OMIM:252100
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j... OMIM:216800
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Intestinal malrotation... ORPHA:1553
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Abnormal denta... ORPHA:2251
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesis of perman... OMIM:614091
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Postaxial hand polydactyly, Cle... OMIM:607361
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of ... OMIM:617926
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, 2-3 toe syndactyly, 2-3 finger s... OMIM:217085
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl... OMIM:619736
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper ... OMIM:603671
Xk Aprosencephaly Syndrome
Microphthalmia, Anal atresia, Narrow mouth, Abnormal morphology of the radius ORPHA:3469
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Anophthalmia, Submucous cleft hard... ORPHA:2189
Unilateral Ocular Duplication
Median cleft upper lip, Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Short thumb, Microphthalmia OMIM:609054
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Monosomy 5P
Intrauterine growth retardation, High palate, Finger syndactyly, Small hand ORPHA:281
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Broad thumb, Broad hallux, Downturned corners of mouth, Ov... ORPHA:435638
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
Eem Syndrome
Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab... ORPHA:1897
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnormal thumb morphology... ORPHA:1825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Polydactyly, Smooth philtrum, Syndactyly OMIM:602501
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly, Microphthalmia OMIM:614526
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Cleft palate, Tooth agenesis ORPHA:1135
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Anencephaly, C... OMIM:614120
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Postaxial hand polydact... OMIM:611134
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Thick lower lip vermilion, Hand polydactyly, Irregularl... OMIM:300337
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, High pala... OMIM:147891
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Cleft palate, Non-midline cleft of the upper lip, Short man... OMIM:141400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph... ORPHA:93267
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, High palat... ORPHA:163649
Microphthalmia, Syndromic 12
Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia OMIM:615524
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Intrauterine growth retardation, Abno... OMIM:272440
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Limited elbow extension, Narrow mouth, Irregular epiphyses of the metacar... OMIM:614078
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation, Everted lower lip vermilion, Camptodactyly of fi... ORPHA:1466
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Finger syndactyly, Camptodactyly of... ORPHA:2994
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... ORPHA:1515
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Microphthalmia ORPHA:324416
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand... ORPHA:94066
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Bilateral microphthalmos... ORPHA:2839
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... ORPHA:3152
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho... OMIM:169400
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Anal atresia ORPHA:1997
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Sandestig-Stefanova Syndrome
Clinodactyly, Intrauterine growth retardation, Bilateral single transverse palmar creases, Orofac... OMIM:618804
Ring Chromosome 10 Syndrome
Sandal gap, Long philtrum, Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia... ORPHA:1438
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Intrauterine growth retardation, Microphthalmia OMIM:616171
Fraser Syndrome 1
Tessier cleft, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral microphthalmos, M... OMIM:219000
Craniofrontonasal Dysplasia
Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin... ORPHA:1520
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han... OMIM:277170
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim... ORPHA:88630
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Abnormal metacarpal morphology, Cleft palate, Long philtrum ORPHA:166100
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... ORPHA:1692
Septooptic Dysplasia
Polydactyly, Optic nerve hypoplasia, Optic disc hypoplasia, Short finger OMIM:182230
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Aarskog-Scott Syndrome
Abnormality of the dentition, Small hand, Finger syndactyly, Delayed eruption of teeth, Umbilical... ORPHA:915
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation, Anal atresia, Hip dysplasia ORPHA:195
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Nanophthalmos
Microphthalmia ORPHA:35612
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Microdontia, Down-sloping shoulders, Cubitus valgus, Microphthalmia, Camptod... OMIM:619694
3Q29 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Ectopic... ORPHA:251038
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Polydactyly, Cli... ORPHA:397590
Cutis Laxa, Autosomal Recessive, Type Iie
Long philtrum, Thick lower lip vermilion, Deep palmar crease, Brachydactyly, Genu varum, Clinodac... OMIM:619451
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, High palate, Proxima... ORPHA:139471
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod... ORPHA:3378
Bresek Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia, Postaxial hand polydactyl... ORPHA:85284
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly OMIM:613576
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Broad first metatarsal... ORPHA:2751
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac... OMIM:619142
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal metacarpal morphology, Eve... ORPHA:251014
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Narrow mout... OMIM:251230
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... ORPHA:3210
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... ORPHA:93258
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Brachydactyly, Split hand, Cleft ... ORPHA:2145
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Microglossia, Me... OMIM:241800
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Tessier number 13 facial cle... OMIM:613451
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Triangular mouth, Flattened epiphys... OMIM:607131
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P... OMIM:618727
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip verm... OMIM:612530
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, Cleft upper lip, Tented upper lip vermil... OMIM:600987
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Brachydactyly, Microph... ORPHA:1598
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Duodenal stenosis, Symphalangism affecting the phalanges of the hand, Camptodacty... ORPHA:2547
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio... ORPHA:313781
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Microphthalm... OMIM:146510
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling, Narrow greater ... OMIM:184250
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Postaxia... OMIM:174300
Acalvaria
Spina bifida, Cleft palate, Postaxial hand polydactyly ORPHA:945
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-... OMIM:601707
Nanophthalmos 4
Microphthalmia OMIM:615972
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Warburg Micro Syndrome 1
Thin vermilion border, Overlapping toe, Narrow mouth, Microphthalmia OMIM:600118
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Overlapping... OMIM:618494
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Intrauterine growth retardation, Overlapping fingers, Overlapping toe, Post... OMIM:618142
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Encephalocele, Irregular dentition, Talipes equinovarus, Small thena... OMIM:619148
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Bilater... OMIM:610758
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Teebi-Shaltout Syndrome
High, narrow palate, Caudal appendage, Prominent palatine ridges, Narrow mouth, Single transverse... OMIM:272950
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Long philtrum, Talipes equin... ORPHA:3447
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Open mouth, Short philtrum, Brachydac... ORPHA:710
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle... ORPHA:2010
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... ORPHA:166119
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Intrauterine growth retardation, Overlapping toe, Pos... OMIM:613792
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Clino... OMIM:169550
Suleiman-El-Hattab Syndrome
Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Single trans... OMIM:618950
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dislocation, Sandal gap, Ti... OMIM:108721
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Long philtrum, Intrauterine growth retardatio... OMIM:248700
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-... OMIM:613573
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... OMIM:119580
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palma... OMIM:620098
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Microphthalmia, Narrow... OMIM:617883
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Blepharocheilodontic Syndrome 2
Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis OMIM:617681
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Single transverse palmar cre... OMIM:614701
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Tetraploidy
Radial club hand, Intrauterine growth retardation, Short philtrum, Cleft palate, Aplasia/Hypoplas... ORPHA:3305
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Finger syndactyly, Sandal gap, Aplasia/Hypopla... ORPHA:193
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Ulnar deviation of the hand or ... OMIM:114300
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microglossia, Microdontia OMIM:606744
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypop... OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth ORPHA:544254
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Hypoplastic ischia, Polydactyly OMIM:616910
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate ORPHA:1473
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Intrauterine g... ORPHA:364577
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Triphalangeal thumb,... ORPHA:2549
Temtamy Syndrome
Dental crowding, Long philtrum, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe... OMIM:218340
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Exaggerated median tongue furrow, Microglossia, Lon... OMIM:608670
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation, Finger joint contracture, Flexion contracture of... ORPHA:48431
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Microglossia, Oligodactyly, Abnormality of the wrist, Narrow mo... ORPHA:1307
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Long philtrum, Microphthalmia OMIM:300887
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, Bilateral micro... ORPHA:369891
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Abnormality of the dentition, Broad thumb, Dental malocclusion, C... OMIM:616331
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
2-3 toe syndactyly, 3-4 finger syndactyly, Open mouth OMIM:600906
Tarp Syndrome
Meckel diverticulum, Clinodactyly, Intrauterine growth retardation, Single transverse palmar crea... OMIM:311900
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Clinoda... OMIM:620663
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Ta... OMIM:609638
Kbg Syndrome
Finger clinodactyly, Long philtrum, Macrodontia, Single transverse palmar crease, Oligodontia, Th... ORPHA:2332
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly OMIM:226700
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Long phi... ORPHA:93271
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Hypoplasia of the radius, Hyp... OMIM:212780
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal ma... ORPHA:93259
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Long philtrum, Tooth agenesis, Non-midline cleft of the upper lip, Cleft palate ORPHA:1252
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
6P22 Microdeletion Syndrome
Abnormal palate morphology, Finger syndactyly, Clinodactyly ORPHA:251046
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru... ORPHA:1942
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... ORPHA:2754
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Furrowed tongu... ORPHA:464738
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova... ORPHA:56304
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Rhombencephalosynapsis
Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E... ORPHA:59315
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Clino... ORPHA:250989
Triploidy
Finger syndactyly, Intestinal malrotation, Intrauterine growth retardation, Narrow mouth, Aplasia... ORPHA:3376
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Narrow mouth, Median cleft upper lip, Aplasia/Hy... ORPHA:1234
Aarskog-Scott Syndrome
Short 5th finger, Clinodactyly, Radial deviation of finger, Cleft upper lip, Single transverse pa... OMIM:305400
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Hypoplasia of the ulna, Hypoplasia of the radius, Non... ORPHA:246
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Short phalanx of finge... OMIM:302350
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Cenani-Lenz Syndrome
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloca... ORPHA:3258
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Martsolf Syndrome 1
Tooth malposition, Broad femoral neck, Short toe, Slender ulna, Long philtrum, Avascular necrosis... OMIM:212720
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-... OMIM:164200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Hypopla... ORPHA:1352
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Acrootoocular Syndrome
High, narrow palate, Small hypothenar eminence, Dental malocclusion, Short toe, Sandal gap, Short... ORPHA:2980
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Microphthalmia ORPHA:627
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, High pa... OMIM:614105
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Exaggerated cupid's bow, Short philtrum, Syndactyly, Microphthalmia,... OMIM:614230