Gene Summary

Name:
polycomb group ring finger 3
Synonyms:
RNF3A,  DONG1,  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
polydactyly Pcgf3em1(IMPC)Bay HOM E18.5 0.00
microphthalmia Pcgf3em1(IMPC)Bay HOM E18.5 0.00
facial cleft Pcgf3em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Pcgf3em1(IMPC)Bay HOM E18.5 0.00
cleft palate Pcgf3em1(IMPC)Bay HOM E18.5 0.00
syndactyly Pcgf3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Pcgf3em1(IMPC)Bay HOM   Early adult 0.00
hyperactivity Pcgf3em1(IMPC)Bay HET Early adult 2.78×10-05
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

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Viewing: all phenotypes

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency 8
Hyperactivity OMIM:615401
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Bilateral cleft lip and palate, Facial cleft, Microphthalmia OMIM:600776
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Facial Clefting, Oblique, 1
Cleft upper lip, Deep palmar crease, Facial cleft, Cleft palate OMIM:600251
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... ORPHA:952
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Abnormality of the dentition,... ORPHA:1794
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... OMIM:607597
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, No... ORPHA:1104
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Postaxial ha... ORPHA:66625
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Rocker bottom foot, Microphthalmia, Intrauterine growth retard... OMIM:616570
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly ORPHA:294975
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... ORPHA:2935
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th... OMIM:239800
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Anterior encephalocele, Bilateral cleft lip and palate, Facial clef... OMIM:601357
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Frontonasal Dysplasia 3
Facial cleft, Cleft palate, Microphthalmia OMIM:613456
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Mmep Syndrome
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia ORPHA:3434
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Clinodactyly of the 5th finger, Finger syndactyly, Small hand, Abnormality of the... ORPHA:1786
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Anophthalmia, Polydactyly, Postaxial hand pol... OMIM:613885
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... ORPHA:1617
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Radioulnar synostosis, Abnormality ... ORPHA:3268
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Intraute... ORPHA:1505
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... ORPHA:376
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly OMIM:615984
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Constricting Bands, Congenital
Cleft upper lip, Talipes equinovarus, Cleft palate, Syndactyly, Facial cleft, Hand polydactyly, E... OMIM:217100
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Wide mouth, Congenital hip dislocation, Oral cleft, Facial cleft,... ORPHA:1647
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... OMIM:225280
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Oral cleft, Microphthalmia, Widely-spaced maxillary ce... OMIM:601349
Frontofacionasal Dysplasia
Cleft palate, Non-midline cleft lip, Facial cleft, Microphthalmia, Encephalocele ORPHA:1791
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyl... OMIM:611561
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Hypodontia, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar creases, Tapered... ORPHA:1236
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... OMIM:249710
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
3Mc Syndrome 3
Cleft upper lip, Cleft palate, Preaxial polydactyly, Radioulnar synostosis, Clinodactyly, Facial ... OMIM:248340
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Mosaic Trisomy 9
High palate, Talipes equinovarus, Microphthalmia, Cleft palate, Intestinal malrotation, Deep palm... ORPHA:99776
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia OMIM:610023
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:615415
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Menin... OMIM:603194
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Brachydactyly, Polydactyly OMIM:615982
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Hartsfield Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Microphthalmia, Split hand... ORPHA:2117
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... OMIM:258860
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Supernumerary Nostril
Facial cleft ORPHA:141096
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Intestinal malrotation, Syndactyly, Carious teet... OMIM:613684
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Clinodactyly, Microphthalmia, Pierre-Robin sequence OMIM:619981
Nanophthalmos 4
Microphthalmia OMIM:615972
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula, Microphthalmia, Finger syndactyly, Toe syndactyly ORPHA:261272
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft OMIM:611638
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... OMIM:603543
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Bartsocas-Papas Syndrome 1
Cleft palate, Absent thumb, Oral synechia, Facial cleft, Microphthalmia, Intrauterine growth reta... OMIM:263650
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... OMIM:300244
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... ORPHA:380
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Micromelia, Abnormal... ORPHA:1350
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Oligodontia, Brachydact... OMIM:600325
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Oral cleft, Facial cleft, Microphthalmia, Short palm, Foot polydactyly ORPHA:268249
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hand polydactyly OMIM:236110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... ORPHA:487825
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Camptodactyly of finger, Mesom... ORPHA:2631
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... OMIM:225000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Spindle-shaped finger, Cutaneous syndactyly, G... ORPHA:166024
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia, Intra... OMIM:615665
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Microphthalmia, Abnormal pa... ORPHA:1777
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Pectoral muscle hypopl... ORPHA:306542
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Microphthalmia OMIM:120433
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... OMIM:602342
Cousin Syndrome
Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Microphthalmia, Clinodactyly of... OMIM:260660
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Moebius Syndrome
High palate, Talipes equinovarus, Abnormality of the dentition, Brachydactyly, Bifid uvula, Short... OMIM:157900
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Postaxial polydactyly, Deep palmar crease, Oligodonti... OMIM:616580
Mohr Syndrome
High palate, Metaphyseal irregularity, Accessory oral frenulum, Agenesis of central incisor, Clin... OMIM:252100
Curry-Jones Syndrome
Abnormality of thumb phalanx, Intestinal malrotation, Preaxial hand polydactyly, Broad thumb, Mic... ORPHA:1553
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Everted lower lip vermilion, Camptodactyly of finger, Short thumb, Triphalangeal thumb, Palmoplan... ORPHA:2251
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... ORPHA:2756
Orofaciodigital Syndrome Xvii
High, narrow palate, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger... OMIM:617926
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Eem Syndrome
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... ORPHA:1897
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Summitt Syndrome
Syndactyly OMIM:272350
Curry-Jones Syndrome
Intestinal malrotation, Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, B... OMIM:601707
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short distal phalanx of finger, Cleft palate, Postaxial polydactyly, Short uvula, Ag... OMIM:614091
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Short thumb, Microphthalmia OMIM:609054
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Small hand, Bilateral cleft lip and pal... OMIM:619339
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Short philtrum, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhi... ORPHA:163966
Monosomy 5P
High palate, Intrauterine growth retardation, Small hand, Finger syndactyly ORPHA:281
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide mouth, Long philtrum, Abnormality of the wrist, Abnormal thumb morphology, Deep philtrum, Pr... ORPHA:1825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Smooth philtrum, Microphthalmia OMIM:602501
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Triopia
Median cleft lip, Encephalocele, Cleft palate, Midline facial cleft ORPHA:3374
Brachydactyly, Type B1
Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, Type B brachydactyly, Apl... OMIM:113000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hydrolethalus
Cleft palate, Gingival cleft, Micromelia, Bifid uvula, Anophthalmia, Anencephaly, Postaxial hand ... ORPHA:2189
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the upper limb, Sandal ... ORPHA:1106
3P25.3 Microdeletion Syndrome
Overlapping toe, High, narrow palate, Cleft palate, Postaxial polydactyly, Short philtrum, 2-3 fi... ORPHA:435638
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Anencephaly, Bifid uvula, Campt... OMIM:614175
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Rhizomelia, Abnormal epiphysis morphology, Bowing of... ORPHA:93267
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... OMIM:601016
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... OMIM:272440
Hypomelanosis Of Ito
Irregularly spaced teeth, Syndactyly, Radial deviation of finger, Clinodactyly, Hand polydactyly,... OMIM:300337
Mend Syndrome
High palate, Overlapping toe, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers OMIM:300960
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Cleft palate, Oligodontia, Synostosis of carpal bones,... ORPHA:90650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Dental crowding ORPHA:231140
Cofs Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Everted lower lip vermi... ORPHA:1466
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Congenital Heart Defects And Ectodermal Dysplasia
Syndactyly, Premature loss of primary teeth, Microdontia, Widely spaced teeth, Broad thumb OMIM:617364
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Joubert Syndrome 10
Thick vermilion border, Deep philtrum, Postaxial polydactyly OMIM:300804
Meckel Syndrome, Type 3
Cleft palate, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital ence... OMIM:607361
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Intrauterine growth retardation, Talipes equinovarus, Flat cap... OMIM:601560
Tibial Hemimelia
Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux... ORPHA:93322
Joubert Syndrome 18
Intrauterine growth retardation, Polydactyly, Camptodactyly OMIM:614815
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... OMIM:603671
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Metap... OMIM:300863
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Teebi Hypertelorism Syndrome 2
High palate, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Syndactyl... OMIM:619736
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Brachydactyly, Broad thumb, Microphthalmia, Esophageal atresia, Smooth philtrum OMIM:614526
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Orofaciodigital Syndrome Xv
Broad hallux, Lobulated tongue, Postaxial polydactyly OMIM:617127
Sclerosteosis
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Abnormality of the hand, Sh... OMIM:251230
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Fraser Syndrome 1
Cleft upper lip, Dental malocclusion, Myelomeningocele, Cleft palate, Anophthalmia, Wide pubic sy... OMIM:219000
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly ORPHA:2440
Ring Chromosome 10 Syndrome
Thin vermilion border, Long philtrum, Tapered finger, Sandal gap, Microphthalmia, Intrauterine gr... ORPHA:1438
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... ORPHA:404440
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Slender finger, Cleft palate, Wide proximal f... ORPHA:163649
Hydrolethalus Syndrome 2
Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot ... OMIM:614120
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Wide capital f... OMIM:147891
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Coloboma Of Macula And Skeletal Anomalies
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... OMIM:216800
Meckel Syndrome, Type 4
Cleft palate, Anencephaly, Postaxial hand polydactyly, Meningocele, Bowing of the long bones, Mic... OMIM:611134
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Blepharocheilodontic Syndrome 1
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Conical toot... OMIM:119580
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... OMIM:225060
Cat-Eye Syndrome
Anal atresia, Hip dysplasia, Intrauterine growth retardation, Microphthalmia ORPHA:195
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement of thum... ORPHA:139471
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Microphthalmia OMIM:614402
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Cleft palate, Arachnodactyly, Abnormality of the de... ORPHA:2994
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Abnormality... ORPHA:3098
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Cleft palate, Aplasia/Hypoplasia of the fibula, Camp... ORPHA:2839
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Macrodontia, Clinodactyly, Microph... OMIM:617883
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Deep palmar crease, Long philtrum, Brachydactyly, Sy... OMIM:619451
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Microdontia, Camptodactyly, Widely spaced teeth, Cubitus valgus, Micropht... OMIM:619694
Anencephaly 2
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Long philtrum, Downturned corners of mouth... OMIM:615761
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia, Polydactyly, Short finger OMIM:182230
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... ORPHA:1692
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Nanophthalmos
Microphthalmia ORPHA:35612
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Limb undergrowth, Abnormal metacarpal morphology, ... ORPHA:3429
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion, Syndactyly OMIM:613576
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Cleft palate, Short philtrum, Long philtrum, Polydactyly, Cleft l... OMIM:301022
Pelger-Huet Anomaly
Gingival overgrowth, Median cleft palate, Abnormality of the dentition, Polydactyly, Upper limb u... OMIM:169400
Aarskog-Scott Syndrome
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Small... ORPHA:915
Trisomy 13
Ectrodactyly, High, narrow palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bil... ORPHA:3378
Seckel Syndrome 2
Microglossia, Clinodactyly of the 5th finger, Microdontia, Microphthalmia OMIM:606744
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Aplasia Cutis Congenita
Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Asplenia OMIM:240300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate, Microphthalmia ORPHA:1135
Summitt Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... ORPHA:3210
Craniofrontonasal Dysplasia
High palate, Clinodactyly of the 5th finger, Abnormality of the dentition, Broad hallux phalanx, ... ORPHA:1520
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Adducted thumb, Short philtrum, Flared metaphysis, Camptodactyly of finge... OMIM:610758
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand, Duode... ORPHA:2547
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe syndactyly, Br... OMIM:175700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Oligodontia, Brachydactyly... OMIM:618727
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... OMIM:619148
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Limb undergrowth, Genu ... OMIM:619142
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, ... OMIM:311300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Anal atresia, Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal s... OMIM:613091
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... ORPHA:93307
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Sandestig-Stefanova Syndrome
High palate, Microphthalmia, Bilateral single transverse palmar creases, Oral cleft, Camptodactyl... OMIM:618804
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Bresek Syndrome
Cleft palate, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Intrauterine gr... ORPHA:85284
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Oral cleft ORPHA:324416
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Warburg Micro Syndrome 1
Thin vermilion border, Overlapping toe, Narrow mouth, Microphthalmia OMIM:600118
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Wide mouth, Narrow mouth, Postaxial polydactyly, Thin vermilion border, Abnormal ton... ORPHA:544254
Frontonasal Dysplasia 2
Encephalocele, Widely spaced teeth, Conical tooth, Tessier number 13 facial cleft, Microphthalmia... OMIM:613451
Hemifacial Microsomia With Radial Defects
Cleft palate, Short mandibular rami, Oral cleft, Triphalangeal thumb, Complete duplication of thu... OMIM:141400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Intrauterine growth retardation, Polydactyly OMIM:616910
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Cleft palate, Abnormality of the dentition, Camptodactyly of toe, Deep... ORPHA:251038
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Cleft palate, Syndactyly, Polydactyly, Short 5th fi... ORPHA:397590
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Tarp Syndrome
High palate, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polydactyly, Glossoptosi... OMIM:311900
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
20P13 Microdeletion Syndrome
Finger syndactyly, Brachydactyly, Polydactyly, Tented upper lip vermilion, Clinodactyly, Thin upp... ORPHA:313781
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Single transverse palmar crease, ... OMIM:615777
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Weaver Syndrome
Talipes equinovarus, Camptodactyly of finger, Long philtrum, Deep philtrum, Large hands, Broad th... ORPHA:3447
Joubert Syndrome 14
Postaxial polydactyly, Open mouth, Short philtrum, Tented upper lip vermilion, Microphthalmia, En... OMIM:614424
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Palmar hyperkeratosis, Enamel hypoplasia, Widely spaced teeth, 4-5 ... OMIM:613573
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Anal atresia, Overlapping toe, Postaxial polydactyly, Thin vermilion border, Long ph... OMIM:613792
Kapur-Toriello Syndrome
Cleft upper lip, Microphthalmia, Joint contracture of the hand, Cleft palate, Intestinal malrotat... OMIM:244300
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Talipes equinovarus, Cleft palate, 3-4 finger cutaneous syndactyly,... OMIM:612530
2Q31.1 Microdeletion Syndrome
Cleft palate, Tapered finger, Abnormality of fibula morphology, Sandal gap, Microphthalmia, Clino... ORPHA:251014
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Brachydactyly, Micromelia, Split hand, Intrauterine growth retardation, Finger synd... ORPHA:2145
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Isolated Arrhinia
Facial cleft, Microphthalmia ORPHA:1134
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Non-midline cleft lip,... ORPHA:2476
Monosomy 18P
Hypodontia, Tooth malposition, Cleft palate, Short philtrum, Brachydactyly, Carious teeth, Downtu... ORPHA:1598
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Postaxial polydactyly, Bilateral talipes equinovarus, Preaxial poly... OMIM:618142
Morm Syndrome
Hyperactivity ORPHA:75858
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... OMIM:186500
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Short philtrum, Syndactyly, Camptodactyly, Broad... OMIM:300963
Pfeiffer Syndrome Type 1
High palate, Broad hallux phalanx, Short hallux, Broad thumb, Hallux varus, Short foot, Short pal... ORPHA:93258
Pfeiffer Syndrome
High palate, Clinodactyly of the 5th finger, Short philtrum, Synostosis of carpal bones, Symphala... ORPHA:710
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly, Tooth agenesis, Conical tooth OMIM:617681
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... OMIM:200990
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... OMIM:169550
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Asplenia, Biliary tract abnormality OMIM:156810
Nephronophthisis 15
Polydactyly OMIM:614845
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Marden-Walker Syndrome
High palate, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Joint contract... OMIM:248700
Teebi-Shaltout Syndrome
Wide mouth, Narrow mouth, Ulnar deviation of the hand, Talipes equinovarus, High, narrow palate, ... OMIM:272950
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Lobulate... OMIM:174300
Isolated Osteopoikilosis
Abnormality of femur morphology, Cleft palate, Abnormality of limb bone, Syndactyly, Abnormal pel... ORPHA:166119
Blepharo-Cheilo-Odontic Syndrome
Anal atresia, Carious teeth, Bilateral cleft lip and palate, Conical tooth, Finger syndactyly ORPHA:1997
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the to... ORPHA:193
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Long philtrum, Polydactyly, Brachydactyly, Downturned corners of mouth, ... OMIM:618950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Hypoplasia of the ulna, Microphthalmia, U-Shaped upper lip... OMIM:609945
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Roberts Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar sy... ORPHA:3103
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Small thenar eminence, Brachydactyly, Jo... OMIM:618914
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Long philtrum, Micromelia, Brachydactyly, Syndactyly, Single transverse pa... OMIM:614800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Ectodermal Dysplasia With Mental Retardation And Syndactyly
3-4 finger syndactyly, 2-3 toe syndactyly, Open mouth OMIM:600906
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Ca... OMIM:258865
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Syndactyly, Enamel hypoplasia, Carious teeth OMIM:226700
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Joint contracture of the hand, Thin vermilion border, Long philtrum, Delayed erup... OMIM:214150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Bifid tongue, Long philtrum, Micromelia, Abnormal pe... ORPHA:93271
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Cleft palate, Microdontia, Tapered finger, Carious teeth, Long fingers, Microphthal... OMIM:616734
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Preaxial polyd... OMIM:612651
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Aplasia o... ORPHA:364577
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
6P22 Microdeletion Syndrome
Abnormal palate morphology, Clinodactyly, Finger syndactyly ORPHA:251046
Myoclonic-Astatic Epilepsy
Wide mouth, Long philtrum, Syndactyly, Microphthalmia, Broad philtrum, Thin upper lip vermilion, ... ORPHA:1942
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Rhombencephalosynapsis
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Short phalanx of finger, Polydactyly, Comp... ORPHA:59315
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Syndactyly, Camptodactyly, Irregular dentition, Intestinal lymphangiectasia OMIM:616006
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Short 2nd finger, Cleft palate, Cutaneous syndactyly, Short ... OMIM:600987
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Microphthalmia ORPHA:627
Microphthalmia, Syndromic 13
Diastema, Microphthalmia OMIM:300915
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Postaxial hand p... OMIM:615994
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Clinodactyly of the 5th finger, Long upper lip, Cleft palate, Everted lower lip verm... OMIM:608670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Microphthalmia, Hy... ORPHA:1352
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Cenani-Lenz Syndrome
Hypodontia, High, narrow palate, Finger syndactyly, Hypoplasia of the radius, Short philtrum, Mic... ORPHA:3258
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Macroglossia, Abnormality of the hand, Syndactyly, Camptodactyly, Downtu... ORPHA:369891
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... OMIM:165590
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Delayed eruption... OMIM:264475
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... ORPHA:3320
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Decreased palmar creases, Supernumerary tooth, High, narrow palat... ORPHA:2980
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Bifid ton... OMIM:616300
Stevenson-Carey Syndrome
Narrow mouth, Joint contracture of the hand, Camptodactyly, Downturned corners of mouth, Micropht... OMIM:611961
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, 3-4 toe syndactyly, Taurodontia, Cleft palate, Microdon... OMIM:164200
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Deep philtrum, Abnormal palate morphology, ... ORPHA:2475
Martsolf Syndrome 1
High palate, Short toe, Talipes equinovarus, Tooth malposition, Slender ulna, Finger joint hyperm... OMIM:212720
Joubert Syndrome 23
Polydactyly OMIM:616490
Silver-Russell Syndrome 3
Syndactyly, Finger clinodactyly OMIM:616489
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Abnormal morphology of ulna, Cleft palate, Split foot, Microdontia, Ap... ORPHA:1307
Lissencephaly 8
Occipital encephalocele, Talipes equinovarus, Microphthalmia OMIM:617255
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Short femur, Glossoptosis, Femoral bowing, Metaphyseal widening, Brachydactyly, Mic... ORPHA:440354
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Anal ... OMIM:607323
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Short distal phalanx of finger, Aplasia/Hypoplasia of th... ORPHA:989
Baraitser-Winter Syndrome 2
Wide mouth, Long philtrum, Oral cleft, Microphthalmia, Thin upper lip vermilion OMIM:614583
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Widely spaced teeth, Syndactyly, Clinodactyly OMIM:619092
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Intestinal malrotation, Preaxial polyda... OMIM:617866
Kbg Syndrome
Cleft palate, Oligodontia, Cutaneous syndactyly, Macrodontia, Long philtrum, Finger clinodactyly,... ORPHA:2332
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Cleft palate, Oligodontia of primary teeth, Abnormality of the wrist, Tarsal s... ORPHA:2010
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... OMIM:302350
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Rocker bottom foot OMIM:610756
1Q21.1 Microdeletion Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, Broad hallux phalanx, Long phil... ORPHA:250989
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Metaphyseal widening, Abnormal lower limb bone morphology,... ORPHA:2788
8Q21.11 Microdeletion Syndrome
High palate, Narrow mouth, Abnormality of the dentition, Short philtrum, Camptodactyly of finger,... ORPHA:284160
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping toe, 2-3 toe syndactyly, Microphthalmia, High, narrow palate, Cleft palate, Everted l... ORPHA:464738
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the ulna, Anteriorly ... OMIM:600123
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short toe, Small hand, Diastema, Broad finger, Short phalanx of finger, Short foot,... OMIM:271960
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular ... OMIM:616331
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Pfeiffer Syndrome
High palate, Elbow ankylosis, Short middle phalanx of toe, Syndactyly, Broad hallux, Broad thumb,... OMIM:101600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Long philtrum, Micromelia, Bra... OMIM:617895
Frontorhiny
Basal encephalocele, Cleft palate, Camptodactyly of finger, Bifid tongue, Brachydactyly, Finger c... ORPHA:391474
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Lobulated to... ORPHA:2754
Chromosome 8Q21.11 Deletion Syndrome
High palate, Cleft palate, Short philtrum, Syndactyly, Camptodactyly, Downturned corners of mouth... OMIM:614230
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Histidinemia
Hyperactivity ORPHA:2157
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Micromelia, Hypoplasia of the ... ORPHA:85166
Poland Syndrome
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle OMIM:173800
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Absent radius, Cleft palate OMIM:179400
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow mouth, Narrow palate, Abnormal hip bone morphology, Camptodactyly of finger, Synostosis of... ORPHA:1323
Oliver Syndrome
High palate, Dental malocclusion, Short toe, Clinodactyly of the 5th finger, Prominent fingertip ... ORPHA:2920