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Gene: Pcgf3 MGI:1916837

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pcgf3em1(IMPC)Bay HOM   Early adult 0.00
abnormal facial morphology 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
syndactyly Pcgf3em1(IMPC)Bay HOM E18.5 0.00
abnormal limb morphology Pcgf3em1(IMPC)Bay HOM E18.5 0.00
hyperactivity Pcgf3em1(IMPC)Bay HET Early adult 2.78×10-05
abnormal embryo size Pcgf3em1(IMPC)Bay HOM E18.5 0.00
cleft palate Pcgf3em1(IMPC)Bay HOM E18.5 0.00
microphthalmia Pcgf3em1(IMPC)Bay HOM E18.5 0.00
polydactyly 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.

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MicroCT E18.5

Embryo reconstruction

6 Images

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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
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
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Microphthalmia, Cleft palate, Deep palmar crease OMIM:600251
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate OMIM:600776
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Acrofacial Dysostosis, Weyers Type
Conical tooth, Small hand, Facial cleft, Hypodontia, Advanced eruption of teeth, Clinodactyly of ... ORPHA:952
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly OMIM:233270
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Facial cleft, Abnormality of the h... ORPHA:1794
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Broad proximal phalanges of the hand, Opt... OMIM:607597
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Facial cleft, Spina bifida, Deviation of finger, Cleft palat... ORPHA:1104
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Facial cleft, Widely spaced teeth, Long philtrum, Microdontia, Solitar... ORPHA:66625
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Facial cleft, Bilateral cleft lip, Sh... OMIM:601357
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology ORPHA:294975
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Facial cleft, Narrow mouth, Cleft palate, ... OMIM:239800
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... OMIM:311895
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... ORPHA:2935
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Brachydactyly, Spina... ORPHA:1786
Frontonasal Dysplasia 3
Cleft palate, Microphthalmia, Facial cleft OMIM:613456
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Mmep Syndrome
Triphalangeal thumb, Median cleft lip, Split foot, Microphthalmia, Orofacial cleft ORPHA:3434
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... ORPHA:1617
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Cleft palate, Intrauterine growth retardation, Talipes equino... OMIM:616570
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Widely spaced teeth, 2-3 finger syndactyly, Microdontia, 2-4 finge... OMIM:225280
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th... ORPHA:3268
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Cleft palate, Orofacial cleft, Facia... ORPHA:1505
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... DECIPHER:46
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Single transverse palmar crease, ... OMIM:617927
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Constricting Bands, Congenital
Cleft upper lip, Encephalocele, Facial cleft, Hand polydactyly, Syndactyly, Cleft palate, Talipes... OMIM:217100
Oculocerebrocutaneous Syndrome
Finger syndactyly, Facial cleft, Wide mouth, Hand polydactyly, Congenital hip dislocation, Aplasi... ORPHA:1647
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly OMIM:615984
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... ORPHA:376
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... OMIM:614034
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... OMIM:619110
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Frontofacionasal Dysplasia
Non-midline cleft lip, Encephalocele, Facial cleft, Microphthalmia, Cleft palate ORPHA:1791
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Abnormal palate morph... ORPHA:1236
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Microphthalmia, Widely-spaced maxillary central incisors, Cleft pala... OMIM:601349
Charlie M Syndrome
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Sh... ORPHA:1406
Meckel Syndrome, Type 5
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydact... OMIM:611561
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Cleft palate, Split foot, Split hand OMIM:183700
3Mc Syndrome 3
Cleft upper lip, Facial cleft, Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Cleft p... OMIM:248340
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Mosaic Trisomy 9
Camptodactyly of finger, High palate, Facial cleft, Spina bifida, Hip dislocation, Elbow dislocat... ORPHA:99776
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Midline facial cle... OMIM:603671
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Microphthalmia, Pos... OMIM:603194
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly OMIM:615982
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... OMIM:258860
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Hartsfield Syndrome
Non-midline cleft lip, Encephalocele, Aplasia/Hypoplasia of the radius, Microphthalmia, Split han... ORPHA:2117
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Supernumerary Nostril
Facial cleft ORPHA:141096
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, Cleft palate, Occipita... OMIM:613885
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... OMIM:136760
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft OMIM:611638
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Genu valgum, Flexion contracture of ... ORPHA:2712
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviat... ORPHA:363417
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Wide mouth, Clinodactyly, Microphthalmia, Cleft palate OMIM:619981
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... ORPHA:65759
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... OMIM:615415
Mycophenolate Mofetil Embryopathy
Facial cleft, Foot polydactyly, Tracheoesophageal fistula, Microphthalmia, Short palm, Orofacial ... ORPHA:268249
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Postaxia... ORPHA:380
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Oligodontia, Clinodactyly, Brachydactyly, Syndactyly,... OMIM:600325
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Cleft upper lip, Anal stenosis, Sh... OMIM:263650
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... OMIM:603543
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioulnar synostosis, Ca... OMIM:605282
Pierpont Syndrome
Short toe, Widely spaced teeth, Short finger, Everted lower lip vermilion, Thin upper lip vermili... ORPHA:487825
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Holzgreve Syndrome
Cleft palate, Cleft upper lip, Hand polydactyly OMIM:236110
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Pierpont Syndrome
Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short finger, Everted... OMIM:602342
Temtamy Syndrome
Short toe, Genu varum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal palate... ORPHA:1777
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Intra... OMIM:615665
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Spindle-shaped finger, Triangular mouth, Cutaneous syndactyly, Delayed... ORPHA:166024
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Cranium bifidum occultum, Facial cleft, Pectoral muscle hypoplasia/aplas... ORPHA:306542
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic gir... ORPHA:2725
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Accessory oral frenulum, ... OMIM:300244
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Moebius Syndrome
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... OMIM:157900
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Microphthalmia, Cleft palate ORPHA:261272
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Mohr Syndrome
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... OMIM:252100
Treacher-Collins Syndrome
Cleft upper lip, Encephalocele, High palate, Facial cleft, Wide mouth, Abnormality of the dentiti... ORPHA:861
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Intestinal malrot... ORPHA:1553
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microphthalmia ORPHA:2528
Triopia
Cleft palate, Midline facial cleft, Encephalocele, Median cleft lip ORPHA:3374
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Abnormality of dent... ORPHA:2251
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... OMIM:269200
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Orofaciodigital Syndrome Xvii
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... OMIM:617926
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Clef... ORPHA:1106
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Microphthalmia, Absent distal phalanges, Accessory o... OMIM:619339
Monosomy 5P
Finger syndactyly, High palate, Intrauterine growth retardation, Small hand ORPHA:281
Eem Syndrome
Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den... ORPHA:1897
Joubert Syndrome 18
Lobulated tongue, Postaxial polydactyly, Arrhinencephaly, Camptodactyly, Cleft palate, Occipital ... OMIM:614815
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Long philtrum, Finger syndactyly, Wide mouth, Deep philtrum, Abnormality of the wrist, Abnormal t... ORPHA:1825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... ORPHA:971
Brachydactyly, Type B1
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... OMIM:113000
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Synostosis of carpal bones, Abnormal metacarpal morphology, Olig... ORPHA:90650
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Polysplenia, Abdominal situs inversus OMIM:605376
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Narrow palate, Short first metatarsal, High palat... OMIM:613684
Filippi Syndrome
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Single transverse palm... OMIM:272440
Hypomelanosis Of Ito
Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger... OMIM:300337
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Cleft palate OMIM:164180
Summitt Syndrome
Syndactyly OMIM:272350
Cofs Syndrome
Camptodactyly of finger, Everted lower lip vermilion, Microphthalmia, Intrauterine growth retarda... ORPHA:1466
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Meckel Syndrome, Type 10
Anencephaly, Bifid uvula, Camptodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, ... OMIM:614175
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, High palate, Short long bone, Short lingual frenulum, Microdontia, Flat acetabular r... OMIM:614091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Short philtrum, Mic... ORPHA:163966
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Flat acetab... OMIM:617102
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding ORPHA:231140
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Everted lowe... OMIM:619736
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate OMIM:619452
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Meckel Syndrome, Type 3
Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Occipital ence... OMIM:607361
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Microphthalmia, Proximal placement of thumb, Abnorma... ORPHA:93267
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Joubert Syndrome 10
Deep philtrum, Postaxial polydactyly, Thick vermilion border OMIM:300804
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Flat acetabular roof, Hemiatrop... ORPHA:163649
Fraser Syndrome 1
Difficulty in tongue movements, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphol... OMIM:219000
Hydrolethalus
Anophthalmia, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard pal... ORPHA:2189
3P25.3 Microdeletion Syndrome
Tapered finger, Deep philtrum, 2-3 finger syndactyly, Pyloric stenosis, Short philtrum, Congenita... ORPHA:435638
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology OMIM:614082
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary... OMIM:602418
Cranioectodermal Dysplasia
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... ORPHA:1515
Nanophthalmos
Microphthalmia ORPHA:35612
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, C... OMIM:614120
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Right Atrial Isomerism
Asplenia, Polysplenia, Abdominal situs ambiguus OMIM:208530
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Anal atresia, Intrauterine growth retardation ORPHA:195
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j... OMIM:216800
Ring Chromosome 10 Syndrome
Tapered finger, Long philtrum, Aganglionic megacolon, Microphthalmia, Sandal gap, Thin vermilion ... ORPHA:1438
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Flat capital femoral epiphysis, Sh... OMIM:147891
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Long philtrum, Deep philtrum, Bifid uvula, Abnormal oral frenulum morphology,... ORPHA:404440
Sclerosteosis
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly, Cleft palate... OMIM:611134
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus OMIM:616171
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cutaneous finger syndactyly, Cutaneous syndactyly o... OMIM:225060
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Microphthalmia, Smooth philtrum, Brachydactyly OMIM:614526
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Accessory oral frenul... ORPHA:88630
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... OMIM:615986
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia ORPHA:2440
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Orofaciodigital Syndrome Vi
Toe syndactyly, Short femur, Radial deviation of finger, Postaxial hand polydactyly, Cleft palate... OMIM:277170
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, High palate, Long philtrum, Thick lower lip vermilion, Hip dislocation, Clinodactyly ... OMIM:619451
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... ORPHA:139471
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, High palate, Microphthalmia, Cleft palate ORPHA:1135
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Arachnodactyly, Sh... ORPHA:2994
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Sandal gap, Smooth philtrum... OMIM:615761
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Microdontia, Camptodactyly, Down-sloping shoulders, Microphthalmia, Cubitus ... OMIM:619694
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly ORPHA:64754
Mosaic Trisomy 1
Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent... ORPHA:1692
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Camptobrachydactyly
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... ORPHA:1319
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... ORPHA:2839
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Short foot, Finger syndactyly, Small hand, Delayed erup... ORPHA:915
Mullegama-Klein-Martinez Syndrome
Polydactyly, Long philtrum, Clinodactyly of the 5th finger, Short philtrum, Thin upper lip vermil... OMIM:301022
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... OMIM:311300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Short 3rd metaca... OMIM:169400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Orofacial cleft ORPHA:324416
Craniofrontonasal Dysplasia
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... ORPHA:1520
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Tapered finger, Clinodactyly of the 5th finger OMIM:618725
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Trisomy 13
Anophthalmia, Long philtrum, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morpholo... ORPHA:3378
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Syndactyly, Palmoplantar keratoderma, Thin upper lip vermilion OMIM:613576
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl... OMIM:175700
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... OMIM:257850
Nanophthalmos 4
Microphthalmia OMIM:615972
Seckel Syndrome 2
Microdontia, Microglossia, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Blepharocheilodontic Syndrome 2
Conical tooth, Tooth agenesis, Cutaneous syndactyly, Cleft lip OMIM:617681
Cousin Syndrome
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... OMIM:260660
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Delayed eruption of teeth, Camptodactyly, Overlapping toe, G... OMIM:619148
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Sandestig-Stefanova Syndrome
High palate, Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse palmar crea... OMIM:618804
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Cone-shaped epiphysis, Postaxial polydactyly, Bifid tongue, Short long bone, Abs... OMIM:613091
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Epiphyseal dysplasia, Flattened epiphysis... OMIM:607131
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Frontonasal Dysplasia 2
Conical tooth, Encephalocele, Widely spaced teeth, Tessier number 13 facial cleft, Microphthalmia... OMIM:613451
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Br... OMIM:618727
Multiple Epiphyseal Dysplasia Type 4
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... ORPHA:93307
Curry-Jones Syndrome
Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Lipomyelome... OMIM:601707
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia, Duode... ORPHA:2547
Hemifacial Microsomia With Radial Defects
Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ... OMIM:141400
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia, Postaxial hand polydactyly, Cleft ... ORPHA:85284
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Warburg Micro Syndrome 1
Overlapping toe, Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Slender long bone... OMIM:610758
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Isolated Arrhinia
Microphthalmia, Facial cleft ORPHA:1134
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda... ORPHA:313781
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Microphthalmia, S... ORPHA:251038
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping, Metaphyseal cupping of proximal phalanges, Microphth... OMIM:300863
Tarp Syndrome
Short sternum, Postaxial polydactyly, High palate, Glossoptosis, Tongue nodules, Hypoplasia of th... OMIM:311900
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... ORPHA:1263
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Toe syndactyly, Everted lower lip vermilion, Ectrodactyl... ORPHA:251014
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, 3-4 finger cutaneous syndactyly... OMIM:612530
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, High palate, Finger syndactyly, Hip dysplasia,... ORPHA:710
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, High palate, Long philtrum, Macular hypoplasia, Anal atresia, Overlapping toe, Th... OMIM:613792
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial devia... OMIM:186500
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Clinodactyly of the 5th finger, Syndactyly, Small placenta, Intrau... ORPHA:397590
Weaver Syndrome
Camptodactyly of finger, Finger syndactyly, Long philtrum, Deep philtrum, Broad thumb, Sandal gap... ORPHA:3447
Suleiman-El-Hattab Syndrome
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... OMIM:618950
Cohen Syndrome
Genu valgum, Aplasia/Hypoplasia of the tongue, Tapered finger, Finger syndactyly, High, narrow pa... ORPHA:193
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... OMIM:615777
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... OMIM:200990
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Cutan... OMIM:119580
Camptobrachydactyly
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... OMIM:244300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Preaxial polydactyly, Overlapping fingers, Bilateral talipes equino... OMIM:618142
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Abnormal tongue physiology, Wide mouth, Narrow mouth, Thin vermilion border, Postaxi... ORPHA:544254
Nephronophthisis 15
Polydactyly OMIM:614845
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Cutaneous finger syndactyly, Widely spaced teeth, 2-4 finger sy... OMIM:613573
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Ivic Syndrome
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... OMIM:147750
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... OMIM:217085
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Microphthalmia, Prox... OMIM:617883
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... OMIM:174300
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle ... ORPHA:3429
Monosomy 18P
Hypodontia, Short philtrum, Downturned corners of mouth, Microphthalmia, Brachydactyly, Carious t... ORPHA:1598
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe syndactyly, Shor... ORPHA:93258
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Ritscher-Schinzel Syndrome 2
Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin... OMIM:300963
Teebi-Shaltout Syndrome
Wide mouth, High, narrow palate, Caudal appendage, Talipes equinovarus, Camptodactyly, Oligodonti... OMIM:272950
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... OMIM:169550
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
2-3 toe syndactyly, Deep philtrum, Short philtrum, Single transverse palmar crease, Microphthalmi... OMIM:620098
Marden-Walker Syndrome
High palate, Long philtrum, Joint contracture of the hand, Pyloric stenosis, Camptodactyly, Radio... OMIM:248700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Hip dysplasia, Overlapping toe, Thin upper lip vermilion, Ant... OMIM:618494
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Finger syndactyly, Anal atresia, Carious teeth, Bilateral cleft lip and palate ORPHA:1997
Orofaciodigital Syndrome Ix
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Acce... OMIM:258865
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Short femoral neck, Coxa vara, Long philtrum, Velopharyngeal insufficiency, R... OMIM:614701
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... OMIM:609945
Temtamy Syndrome
Long philtrum, Hip dislocation, Short 2nd toe, Microphthalmia, Brachydactyly, Dental crowding, Hy... OMIM:218340
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Joint contracture of the hand, Delayed eruption of teeth, Elbow flexio... OMIM:214150
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... ORPHA:166119
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... OMIM:618914
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Broad hallux, Thin upper lip vermilion, Te... OMIM:600987
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Pi... ORPHA:364577
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Radioulnar synostosis, Hypoplasia of the... OMIM:212780
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... OMIM:142900
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Oligodactyly, Narrow mouth, Microphthalmia, A... OMIM:251230
Cardioacrofacial Dysplasia 1
Conical tooth, Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Postaxial polydactyly OMIM:619142
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Short long bone, Flat ac... OMIM:616300
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Cleft palate, Intrauterine growth retardation ORPHA:2145
Roberts Syndrome
Wrist flexion contracture, Phocomelia, Radial deviation of finger, Cleft palate, Synostosis of ca... ORPHA:3103
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Short philtrum, Broad hallux, Single transverse palmar crease, Microp... OMIM:614105
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Microphthalmia, Intrauterine growth retardation ORPHA:48431
Rhombencephalosynapsis
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... ORPHA:59315
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
6P22 Microdeletion Syndrome
Abnormal palate morphology, Clinodactyly, Finger syndactyly ORPHA:251046
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Widely spaced teeth, Clinodactyly, Camptodactyly, Macroglossia, Syndacty... ORPHA:369891
Baraitser-Winter Syndrome 2
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Orofacial cleft OMIM:614583
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Preaxial hand polydactyly, Bifid tongue, Long philtrum, Facial cleft, Ectopic an... ORPHA:93271
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Syndactyly, Pyloric stenosis, Carious teeth OMIM:226700
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... ORPHA:2751
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Acrootoocular Syndrome
Decreased palmar creases, Short toe, Dental malocclusion, Short metacarpal, Delayed eruption of t... ORPHA:2980
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Hi... OMIM:608670
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition ORPHA:627
Nance-Horan Syndrome
Short phalanx of finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry m... OMIM:302350
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Thick lower lip vermilion, Syndactyly, Thin upper lip vermilion, Micro... ORPHA:1942
Joubert Syndrome 16
Polydactyly, Encephalocele OMIM:614465
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... ORPHA:3320
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615994
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Optic disc... OMIM:607323
Martsolf Syndrome 1
Short phalanx of finger, Short toe, Broad femoral neck, Tooth malposition, High palate, Avascular... OMIM:212720
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, A... ORPHA:1352
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Camptodactyly, Syndactyly, Narrow mouth, Intestinal lymphangiectasia OMIM:616006
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Feingold Syndrome 1
Asplenia, Polysplenia, Accessory spleen, Annular pancreas OMIM:164280
Orofaciodigital Syndrome Type 6
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Mesoaxial polydactyly, Hand poly... ORPHA:2754
Pfeiffer Syndrome
Short middle phalanx of toe, High palate, Finger syndactyly, Humeroradial synostosis, Elbow ankyl... OMIM:101600
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Kbg Syndrome
Long philtrum, Oligodontia, Thin upper lip vermilion, Single transverse palmar crease, Widely-spa... ORPHA:2332
1Q21.1 Microdeletion Syndrome
High palate, Long philtrum, Toe syndactyly, Foot polydactyly, Ankyloglossia, Hand polydactyly, Cl... ORPHA:250989
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Widely spaced teeth, Arachnodactyly OMIM:619092
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger OMIM:601163
Stevenson-Carey Syndrome
Pierre-Robin sequence, Joint contracture of the hand, Hip dysplasia, Camptodactyly, Downturned co... OMIM:611961
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Abnormal metacarpal morphology, Short ph... ORPHA:284160
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Ta... OMIM:609638
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ... ORPHA:2475
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Histidinemia
Hyperactivity ORPHA:2157
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Short philtrum, Broad distal phalanx of the ... ORPHA:464738
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Small hand, Long philtrum, Bifid uvula, Thin upper lip vermilion, Microphthalmia, Sev... OMIM:241410
Aarskog-Scott Syndrome
Cleft upper lip, Short 5th finger, Short foot, Hyperextensibility of the finger joints, Hypodonti... OMIM:305400
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Kury-Isidor Syndrome
High palate, Finger syndactyly, Long philtrum, Widely spaced teeth, Hip dysplasia, Brachydactyly,... OMIM:619762
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Aplasia/Hypopl... ORPHA:989
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Oculodentodigital Dysplasia
Enamel hypoplasia, Cleft upper lip, High palate, Short middle phalanx of the 5th finger, Selectiv... OMIM:164200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Triploidy
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Finger syndactyly, Wide... ORPHA:3376
Frontorhiny
Camptodactyly of finger, Encephalocele, Cranium bifidum occultum, Bifid tongue, Basal encephaloce... ORPHA:391474
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... ORPHA:959
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... ORPHA:2788
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Chromosome 8Q21.11 Deletion Syndrome
High palate, Short metacarpal, Camptodactyly, Absent palmar crease, Short philtrum, Syndactyly, D... OMIM:614230
Joubert Syndrome 14
Meningocele, Encephalocele, Short philtrum, Tented upper lip vermilion, Microphthalmia, Cleft pal... OMIM:614424
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Pfeiffer Syndrome Type 2
High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Intestinal malrotation,... ORPHA:93259
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly... ORPHA:570
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Lissencephaly 8
Occipital encephalocele, Microphthalmia, Talipes equinovarus OMIM:617255
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Narrow palate, Finger syndactyly, Synostosis of carpal bones, Narrow mou... ORPHA:1323
Joubert Syndrome 17
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly OMIM:614615
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot OMIM:610756
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Tapered finger, Long philtrum, Clinodactyly of the 5th finger, Broad thumb, Arachnod... OMIM:619721
Joubert Syndrome 37
High palate, Microphthalmia, Postaxial polydactyly OMIM:619185
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Wide mouth, Duplication of phalanx of hallux, Thin upper lip verm... OMIM:243310
Blepharonasofacial Malformation Syndrome
Non-midline cleft lip, Long philtrum, Finger syndactyly, Tooth agenesis, Cleft palate ORPHA:1252
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Intestinal malrotation, Thin... OMIM:617866
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Thin upper lip vermilion, Microphthalmia, Smooth philtrum, Cl... ORPHA:1915
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Bartsocas-Papas Syndrome
Absent thumb, Finger syndactyly, Toe syndactyly, Median cleft lip, Narrow mouth, Aplasia/Hypoplas... ORPHA:1234
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Flared iliac wing, Elbow dislocation, Short hallux, Cleft palate, Short ... ORPHA:90652
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Widely spaced teeth, Microdontia, Microphthalmia, Cleft palate, ... ORPHA:2728
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Oliver Syndrome
Camptodactyly of finger, Short toe, Dental malocclusion, High palate, Cutaneous finger syndactyly... ORPHA:2920
Meckel Syndrome
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cystic liver disease, Congenit... ORPHA:564
Joubert Syndrome 23
Polydactyly OMIM:616490
Laurence-Moon Syndrome
Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases ORPHA:2377
Acrofrontofacionasal Dysostosis 2
High palate, Hand polydactyly, Broad hallux, Syndactyly, Broad thumb OMIM:239710
Pallister-Hall Syndrome
Mesoaxial foot polydactyly, Cleft upper lip, Short 4th metacarpal, Natal tooth, Toe syndactyly, H... OMIM:146510
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short long bone OMIM:615633
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Median cleft palate, Natal tooth, Bilateral cleft lip, Talipes equinov... OMIM:612651
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Microphthalmia, Intrauterine grow... ORPHA:290
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Hypo... ORPHA:246
Laurence-Moon Syndrome