Not currently registered for phenotyping at IMPC

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

Gene Summary

dickkopf WNT signaling pathway inhibitor 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dkk1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dkk1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Arnold-Chiari Malformation Type I
Stiff neck, Brain stem compression, Areflexia of upper limbs ORPHA:268882
Idiopathic Juvenile Osteoporosis

The table below shows human diseases predicted to be associated to Dkk1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Microcephaly 28, Primary, Autosomal Recessive
Microcephaly OMIM:619453
Cri du Chat Syndrome (5p deletion)
Microcephaly DECIPHER:2
Intellectual Developmental Disorder, Autosomal Recessive 51
Microcephaly OMIM:616739
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
Microcephaly DECIPHER:62
Mental Retardation, Autosomal Recessive 28
Microcephaly OMIM:614347
Microcephaly 23, Primary, Autosomal Recessive
Microcephaly OMIM:617985
Microcephaly 18, Primary, Autosomal Dominant
Microcephaly OMIM:617520
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
Microcephaly DECIPHER:92
Teratocarcinoma-Derived growth factor 1
Microcephaly, Hypoplasia of the corpus callosum, Absent septum pellucidum OMIM:187395
Mental Retardation, Autosomal Recessive 24
Microcephaly OMIM:614345
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Arachnoid Cysts, Intracranial
Macrocephaly, Microcephaly OMIM:207790
Triglyceride Storage Disease, Type I
Microcephaly OMIM:190420
Encephalomalacia, Multilocular
Encephalomalacia, Microcephaly OMIM:225700
Seckel Syndrome 6
Microcephaly OMIM:614728
Microcephaly 11, Primary, Autosomal Recessive
Microcephaly OMIM:615414
Microcephaly 21, Primary, Autosomal Recessive
Microcephaly OMIM:617983
Pontocerebellar Hypoplasia, Type 5
Olivopontocerebellar hypoplasia, Microcephaly OMIM:610204
Microcephaly 24, Primary, Autosomal Recessive
Cerebellar vermis hypoplasia, Microcephaly OMIM:618179
Microcephaly 25, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly OMIM:618351
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Microcephaly OMIM:271110
Intellectual Developmental Disorder, Autosomal Recessive 50
Microcephaly OMIM:616460
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dihydropteridine Reductase Deficiency
Microcephaly ORPHA:226
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Microcephaly 8, Primary, Autosomal Recessive
Microcephaly OMIM:614673
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Short... OMIM:613885
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the neck, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip... ORPHA:294975
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Microcephaly, Radiou... ORPHA:3268
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Macrocephaly, Molar tooth si... ORPHA:166024
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Proximal placement of thumb, Inferior vermi... ORPHA:139471
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Tapered finger, Mandibular prognathia, Finger syndactyly, Camptodactyly, Microcep... ORPHA:435938
Arrhinencephaly, Micrognathia, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidu... ORPHA:2189
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Redundant neck skin, Hydranencephaly, Talipes equinovarus, Neonatal death, Cy... OMIM:236500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Macrocephaly, Finger syndactyly ORPHA:238446
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Postaxial polydactyly, Hypothalamic hamartoma, Radial deviation of ... OMIM:277170
Lambert Syndrome
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Malar flattening ORPHA:1296
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Syndactyly, 2-4 toe syndactyly OMIM:241000
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Megalencephaly, Umbilical hernia, Arachnodactyly, Joint contracture of the hand, Mi... OMIM:600325
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, Syndactyly, Broad hallux, Retrognathia, Dental malocclusion, Broad t... OMIM:613684
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bon... OMIM:600384
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Microphthalmia, Anophthalmia, Congenital hip dislocation, Hypoplasia o... OMIM:164180
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Monosomy 5P
Small hand, Finger syndactyly, Short neck, Microretrognathia, Microcephaly ORPHA:281
Frontonasal Dysplasia 1
Microphthalmia, Hypoplastic frontal sinuses, Joint contracture of the hand, Radial deviation of f... OMIM:136760
Trisomy 13
Microphthalmia, Anophthalmia, Malar flattening, Cystic hygroma, Aplasia/Hypoplasia of the iris, I... ORPHA:3378
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Microphthalmia, Retrognathia OMIM:615524
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:616428
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Agenesis of corpus callosum, Broad thumb, Finger syndactyly... ORPHA:380
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia OMIM:221950
Microphthalmia With Limb Anomalies
Arrhinencephaly, Death in infancy, Talipes equinovarus, Finger syndactyly, Hypoplasia of the prem... ORPHA:1106
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma, Bilateral microphthalmos OMIM:611638
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Molar tooth sign on MRI, ... OMIM:614120
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Walker-Warburg Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Microphthalmia, Anophthalmia, Absent septu... ORPHA:899
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Malar flattening, Clinodactyly OMIM:615984
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Trisomy 1Q
Toe syndactyly, Anophthalmia, Cystic hygroma, Arachnodactyly, Increased nuchal translucency, Macr... ORPHA:261344
Hypomelanosis Of Ito
Iris coloboma, Radial deviation of finger, Hand polydactyly, Syndactyly, Macrocephaly, Cerebral a... OMIM:300337
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Progressive macrocephaly, Microphthalmia, Polydactyly, Megalencephaly, Cavum septum pellucidum, S... OMIM:602501
Joubert Syndrome 22
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Agenesis of cerebellar vermis, Mol... OMIM:615665
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Trismus OMIM:609166
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Dandy-Walker malformation, Anterior hypopituitarism, Chorioretinal coloboma, Microphthalmia, Anop... ORPHA:2162
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Postaxial polydactyly OMIM:613094
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Occipital cortical atrophy ORPHA:411986
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida, Iris coloboma ORPHA:1104
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metac... OMIM:617102
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Talipes equinovarus, Tapered finger, Macrocephaly, Short palm, Camptodactyly of finger, Hypoplasi... ORPHA:85279
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Syndactyly, Coloboma, Clinodactyly, Brachydactyly OMIM:610023
Curry-Jones Syndrome
Cutaneous finger syndactyly, Coloboma, Microphthalmia, Megalencephaly, Broad thumb, Hemimegalence... OMIM:601707
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
X-Linked Mandibulofacial Dysostosis
Micrognathia, Webbed neck, Hypoplasia of the zygomatic bone, Branchial anomaly, Microcephaly ORPHA:1131
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Delayed eruption of primary... ORPHA:90322
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Bardet-Biedl Syndrome 22
Macrocephaly, Postaxial foot polydactyly, Polydactyly, Microcephaly OMIM:617119
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Cyclopia, Anterior hypopituitarism, Coloboma, Decreased response to... OMIM:147250
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Micrognathia, Short 5th metacarpal, Anophthalmia, Malar flattening, Finger syndac... ORPHA:264200
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Malar flatte... OMIM:300244
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Cerebral white matter hypoplasia, Pachygyria, Syndactyly, Hypoplasia of the corpus callosum, Clin... OMIM:619091
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Macrocephaly, Postaxial polydactyly OMIM:300804
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta, Micr... ORPHA:64754
Moebius Syndrome
Micrognathia, Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasi... OMIM:157900
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Mandibular prognathia... ORPHA:1540
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Hypoplasia of the maxilla, Short... OMIM:170390
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... OMIM:259610
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormally large globe, Hypoplasia ... ORPHA:363417
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Broad hallux, Postaxial polydactyly OMIM:617127
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micrognathia, Postaxial polydactyly, Lissencephaly, Preaxial polydactyly, Overlapping fingers, Re... OMIM:618142
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Anophthalmia... OMIM:610829
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Arachnodactyly, Finger syndactyly, Short distal phalanx of finger, Camptodac... ORPHA:2994
Silver-Russell Syndrome 3
Finger clinodactyly, Syndactyly, Retrognathia, Relative macrocephaly OMIM:616489
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... OMIM:182230
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Malar flattening, Preaxial polydactyly, Enamel hypoplasia, Complete ... OMIM:129540
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Acrootoocular Syndrome
Micrognathia, Decreased palmar creases, Short finger, Decreased response to growth hormone stimul... ORPHA:2980
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Syndactyly, Retrognathia, Clinodactyly, Microcephaly OMIM:619092
Joubert Syndrome 23
Coloboma, Dysplastic corpus callosum, Polydactyly OMIM:616490
Mend Syndrome
Dandy-Walker malformation, 2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Mi... OMIM:300960
Orofaciodigital Syndrome Xvii
Polydactyly, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Retrognathia, Clu... OMIM:617926
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Microcephaly, Wide anterior fontanel, Macrocephaly, Clinodactyly,... ORPHA:313781
Pelvis-Shoulder Dysplasia
Micrognathia, Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Promi... ORPHA:2839
Focal Dermal Hypoplasia
Short metatarsal, Midclavicular hypoplasia, Delayed eruption of teeth, Iris coloboma, Foot polyda... OMIM:305600
Weaver Syndrome
Micrognathia, Talipes equinovarus, Large hands, Abnormality of the metaphysis, Finger syndactyly,... ORPHA:3447
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Al-Gazali-Bakalinova Syndrome
Malar flattening, Genu valgum, Macrocephaly, Molar tooth sign on MRI, Short neck, Clinodactyly, A... OMIM:607131
Vacterl With Hydrocephalus
Arrhinencephaly, Micrognathia, Microphthalmia, Anophthalmia, Hypoplasia of the radius, Hip disloc... ORPHA:3412
Liebenberg Syndrome
Elbow flexion contracture, Metaphyseal widening, Radially deviated wrists, 2-3 finger syndactyly,... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Agenesis of corpus callosum, Broad thumb, 3-4 finger sy... OMIM:175700
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Deviation of finger, Shallow acetabu... OMIM:201000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib... ORPHA:397973
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Metatarsal osteolysis, Micrognathia, Ulnar deviation of the hand, Ulnar deviation... OMIM:166300
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Supernumerary tooth, Delayed eruption of teeth, Syndactyly, Hy... OMIM:614188
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Talipes equinovarus, Delayed eruption of teeth, Iris coloboma, Broad hallux, ... OMIM:300166
Mohr Syndrome
Micrognathia, Agenesis of central incisor, Bilateral postaxial polydactyly, Metaphyseal irregular... OMIM:252100
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Cutaneous syndactyly, Microcephaly, Single transverse pa... OMIM:272440
Orofaciodigital Syndrome Iv
Toe syndactyly, Cerebral atrophy, Micrognathia, Postaxial polydactyly, Short finger, Foot polydac... OMIM:258860
Joubert Syndrome 16
Dandy-Walker malformation, Coloboma, Molar tooth sign on MRI, Polydactyly OMIM:614465
Micrognathia, Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polyd... OMIM:612651
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split ... ORPHA:1406
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... OMIM:102510
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Acrofrontofacionasal Dysostosis 2
Redundant neck skin, Thickened nuchal skin fold, Wide anterior fontanel, Syndactyly, Broad hallux... OMIM:239710
Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand, Craniofacial hyper... ORPHA:3152
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Arrhinencephaly, Agenesis of corpus callosum, Microphthalmia, Phocome... ORPHA:2538
3P25.3 Microdeletion Syndrome
Micrognathia, Microphthalmia, Postaxial polydactyly, Tapered finger, Cerebral white matter atroph... ORPHA:435638
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Mitten deformity, Neonatal death, Sandal gap, Natal tooth, Syndactyly, Tapere... OMIM:609638
Gordon Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Finger syndactyly ORPHA:376
Premature Aging Syndrome, Penttinen Type
Micrognathia, Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concent... OMIM:601812
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Tapered finger, Postaxial polydactyly, Macular hypoplasia, Retrognathia, Microcephaly OMIM:613792
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Microcephaly, Hypoplastic ischia OMIM:616910
Boomerang Dysplasia
Abnormality of the ulna, Abnormality of femur morphology, Finger syndactyly, Abnormality of the r... ORPHA:1263
Atelosteogenesis, Type Iii
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Rhizomelia, Malar flattening, Hi... OMIM:108721
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Ulnar deviation of finger, Aniridia, Mandibular prognathia, Anophthalmia, Ca... ORPHA:1101
Microphthalmia, Syndromic 6
Short middle phalanx of finger, Malar flattening, Finger syndactyly, Aplasia/Hypoplasia of the co... OMIM:607932
Biemond Syndrome Type 2
Coloboma, Microphthalmia, Preaxial polydactyly ORPHA:141333
Microphthalmia, Syndromic 3
Microphthalmia, Hypothalamic hamartoma, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary ... OMIM:206900
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Short middle phalanx of the 5th finger, Hypoplasia o... OMIM:156510
Joubert Syndrome 7
Brainstem dysplasia, Postaxial polydactyly, Abnormal corpus callosum morphology, Hypoplasia of th... OMIM:611560
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Curry-Jones Syndrome
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Optic disc coloboma, Finger syndact... ORPHA:1553
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Alkuraya-Kucinskas Syndrome
Adducted thumb, Talipes equinovarus, Hand clenching, Webbed neck, Cystic hygroma, Hypoplasia of t... OMIM:617822
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna OMIM:228940
Craniofrontonasal Dysplasia
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Sandal gap, Finger syndactyly, ... ORPHA:1520
Chromosome 8Q21.11 Deletion Syndrome
Short neck, Syndactyly, Micrognathia, Camptodactyly OMIM:614230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia, Macrocephaly, Coloboma OMIM:615877
Craniofacial Microsomia
Micrognathia, Microphthalmia, Anophthalmia, Malar flattening, Branchial anomaly, Hypoplasia of th... OMIM:164210
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Talipes equinovarus, Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-s... ORPHA:356961
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Hand oligodactyly, Phocomelia, Anophthalmia, Hypoplasia of the radius, Polymicro... OMIM:156810
Lujan-Fryns Syndrome
Micrognathia, Arachnodactyly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Camptodact... ORPHA:776
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Micrognathia, Tapered finger, Branchial fistula, Webbed neck, Mandibular prognath... ORPHA:261337
Aarskog-Scott Syndrome
Broad palm, Small hand, Delayed eruption of teeth, Finger syndactyly, Short neck, Short foot, Cam... ORPHA:915
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Sandal gap, Finger syndactyly, Shor... OMIM:264475
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Hypopituitarism, Hypoplasia o... OMIM:603671
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ulnar deviation of finger, Branchial fistula, Bowing of the long bones, Malar fla... ORPHA:261330
Bardet-Biedl Syndrome 19
Hyposmia, Polydactyly OMIM:615996
Fusion of the left and right thalami, Microretrognathia, Polydactyly, Septo-optic dysplasia, Agen... ORPHA:59315
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Joubert Syndrome 32
Molar tooth sign on MRI, Macrocephaly, Polymicrogyria, Postaxial polydactyly OMIM:617757
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Microcephaly OMIM:615284
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Micrognathia, Polydactyly, Microcephaly OMIM:301022
Keipert Syndrome
Broad hallux phalanx, Broad thumb, Broad distal phalanx of finger, Macrocephaly, Short distal pha... ORPHA:2662
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Microphthalmia, Polydactyly, Anencephaly, Bowing of the l... OMIM:603194
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Syndactyly, Microcephaly OMIM:617364
Microphthalmia, Lenz Type
Chorioretinal coloboma, Microphthalmia, Webbed neck, Delayed eruption of teeth, Complete duplicat... ORPHA:568
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Micrognathia, Narrow palm, Tapered finger, Sh... OMIM:216550
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of the olfactory bulb, Failure of eruption of permanent teeth, Anophth... ORPHA:2250
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Cerebellar hypoplasia, Clinodactyly, Microcephaly OMIM:618087
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Aqueductal stenosis, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia ... ORPHA:1788
Meckel Syndrome
Dandy-Walker malformation, Micrognathia, Microphthalmia, Anencephaly, Anophthalmia, Bowing of the... ORPHA:564
Isolated Cloverleaf Skull Syndrome
Malar flattening, Finger syndactyly ORPHA:2343
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Basal ganglia calcification, Hypoplasia of the maxilla, Microcephaly OMIM:608432
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Finger syndactyly, Iris coloboma, Camptodactyly of... ORPHA:251014
Cerebrooculonasal Syndrome
Anophthalmia, Malar flattening, Cerebellar vermis hypoplasia, Macrocephaly, Postaxial hand polyda... OMIM:605627
Silver-Russell Syndrome Due To A Point Mutation
Micrognathia, Polydactyly, Small placenta, Short 5th finger, Syndactyly, Relative macrocephaly, C... ORPHA:397590
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Malar flattening, Preaxial hand polydactyly, Synda... OMIM:101120
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Coloboma, Hypoplasia of the maxilla, Clinodactyly of th... ORPHA:2399
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger OMIM:618725
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly, Broad neck, Cerebellar vermis hypoplasia, Molar tooth sign... OMIM:619185
Branchiootic Syndrome 1
Branchial fistula, Retrognathia OMIM:602588
Joubert Syndrome 18
Molar tooth sign on MRI, Polydactyly, Camptodactyly OMIM:614815
Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Mandibular prognathia, Shor... ORPHA:950
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Campt... ORPHA:1692
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Short 5th finger, Sandal gap, Microcephaly, Broad hallux, Broad thumb, Cutane... OMIM:600987
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Redundant neck skin, Colpocephaly, Rhizomelic arm shortening, Cerebellar... ORPHA:397715
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Cystic hygroma, Branchial ano... ORPHA:453504
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Relative macrocephaly, Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Summitt Syndrome
Syndactyly OMIM:272350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Cystic hygroma, Branchial ano... ORPHA:352665
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Branchiooculofacial Syndrome
Micrognathia, Microphthalmia, Agenesis of cerebellar vermis, Retinal coloboma, Anophthalmia, Low ... OMIM:113620
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Microcephaly-Capillary Malformation Syndrome
Progressive microcephaly, Short distal phalanx of finger, Cerebral atrophy, Hypoplasia of the max... OMIM:614261
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Micrognathia, Redundant neck skin, Proximal placement of thumb, Microcephaly, Wide anterior fonta... OMIM:217980
Charge Syndrome
Dandy-Walker malformation, Bifid femur, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Hyp... ORPHA:138
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Micrognathia, Anencephaly, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, F... ORPHA:1908
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Suleiman-El-Hattab Syndrome
Polydactyly, Webbed neck, Microcephaly, Microretrognathia, Clinodactyly, Brachydactyly, Single tr... OMIM:618950
Miller-Dieker Lissencephaly Syndrome
Midline brain calcifications, Micrognathia, Polydactyly, Joint contracture of the hand, Delayed e... OMIM:247200
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Micrognathia, Syndactyly, Coloboma, Low posterior hairline, Decreased ... OMIM:220210
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Neonatal death, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sho... OMIM:227270
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Microphthalmi... OMIM:257850
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Osteolytic defects of the dist... ORPHA:50815
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly OMIM:619582
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Malar flattening, Hip dislocation, Macrocephaly, Coxa valga, Hypoplasia of the ma... OMIM:109120
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Long fingers, Hypoplasia of the maxilla, Agenesis of corpus c... OMIM:218000
Cranioectodermal Dysplasia
Rhizomelia, Abnormal dental enamel morphology, Abnormality of the metaphysis, Finger syndactyly, ... ORPHA:1515
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Delayed eruption of primary... ORPHA:90321
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly, Postaxial polydactyly OMIM:614175
Ritscher-Schinzel Syndrome 2
Dandy-Walker malformation, Broad neck, Syndactyly, Macrocephaly, Short distal phalanx of finger, ... OMIM:300963
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Abnormality of the wrist, Camptodactyly of finger, Ulnar deviation of ... ORPHA:1529
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Webbed neck, Malar flattening, Split hand, Finger syndactyly, Micromelia, Brachydac... ORPHA:2145
Summitt Syndrome
Finger syndactyly, Genu valgum, Macrocephaly, Camptodactyly of finger, Short palm, Clinodactyly o... ORPHA:3210
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Split hand OMIM:246560
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Megalencephaly, Postaxial polydactyly, Thick corpus callosum, Abnormally large globe, Pachygyria,... OMIM:603387
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Malar flattening, Macrocephaly, Broad thumb, Hypoplasia of the maxilla ORPHA:261295
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Micrognathia, Microphthalmia, Anencephaly, Talipes equinovarus, Tapere... OMIM:619148
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Arachnodactyly, Finger syndactyly, Short palm, Cerebral calcification, Retrognath... ORPHA:73246
Tarp Syndrome
Micrognathia, Talipes equinovarus, Postaxial polydactyly, Abnormal corpus callosum morphology, Hy... OMIM:311900
Bohring-Opitz Syndrome
Dandy-Walker malformation, Broad palm, Micrognathia, Tapered finger, Short toe, Dislocated radial... OMIM:605039
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Disharmonious carpal bone, Genu valgum, Slender long bones with narrow diaphyses,... OMIM:608154
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Acrofacial Dysostosis, Catania Type
Carious teeth, Microretrognathia, Webbed neck, Hypoplasia of the zygomatic bone, Small hand, Fing... ORPHA:1786
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Syndactyly, Palmoplantar keratoderma OMIM:613576
Acrocallosal Syndrome
Toe syndactyly, Coloboma, Agenesis of corpus callosum, Tapered finger, Bifid distal phalanx of th... OMIM:200990
Dysostosis, Stanescu Type
Carious teeth, Abnormality of epiphysis morphology, Bowing of the long bones, Hypoplasia of the z... ORPHA:1798
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Joubert Syndrome 20
Molar tooth sign on MRI, Syndactyly, Postaxial polydactyly OMIM:614970
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Microphthalmia, Anencephaly, Agenesis of cerebellar vermi... OMIM:611134
Martsolf Syndrome 1
Metatarsus adductus, Micrognathia, Slender ulna, Microphthalmia, Talipes equinovarus, Short metac... OMIM:212720
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hip dysplasia, Coloboma, Hypopl... ORPHA:453499
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Hypoplastic facial bones, Microphthalmia, Postaxial polydactyly, Rhizo... OMIM:616300
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Coffin-Lowry Syndrome
Death in early adulthood, Tapered finger, Broad finger, Large hands, Delayed eruption of teeth, A... ORPHA:192
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Talon cusp, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly,... OMIM:605282
Ring Chromosome 21 Syndrome
Narrow palm, Small hand, Syndactyly, Clinodactyly, Microcephaly ORPHA:1445
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Congenital hip dislocation, Abnormal cerebral morphology OMIM:113650
Au-Kline Syndrome
Postaxial polydactyly, Thickened nuchal skin fold, Hip dysplasia, Deep palmar crease, Overlapping... OMIM:616580
Eem Syndrome
Carious teeth, Ectrodactyly, Finger syndactyly ORPHA:1897
Orofaciodigital Syndrome Type 6
Micrognathia, Hypothalamic hamartoma, Mesoaxial polydactyly, Foot polydactyly, Preaxial polydacty... ORPHA:2754
Orofaciodigital Syndrome I
Abnormal cortical gyration, Carious teeth, Polydactyly, Myelomeningocele, Hypothalamic hamartoma,... OMIM:311200
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Micrognathia, Microphthalmia, Postaxial polydactyly, Broad distal phalanx of ... ORPHA:404440
Joubert Syndrome 14
Dandy-Walker malformation, Microphthalmia, Postaxial polydactyly, Malar flattening, Coloboma OMIM:614424
Meningocele, Micrognathia, Finger syndactyly, Iris coloboma, Macrocephaly, Aplasia/Hypoplasia of ... ORPHA:3376
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of f... ORPHA:2251
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Death in infancy, Postaxial polydactyly, Enamel hypoplasia, Hip dyspl... OMIM:614576
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Micrognathia, Cone-shap... ORPHA:439822
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius OMIM:212780
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, 2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia, Add... ORPHA:464738
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Subcortical band heterotopia, Pachygyria, Progressive microcephaly, Hypoplasia of the maxilla, Hy... OMIM:618737
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Cortical dysplasia, Finger syndactyly ORPHA:261272
Joubert Syndrome 15
Molar tooth sign on MRI, Polydactyly OMIM:614464
Microphthalmia, Hypoplastic frontal sinuses, Iris coloboma, Pericallosal lipoma, Aplasia/Hypoplas... ORPHA:391474
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Short finger, Hypoplastic iliac... ORPHA:763
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... ORPHA:1307
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:77298
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Short neck, Mi... ORPHA:178303
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly ORPHA:1825
Aarskog-Scott Syndrome
Broad palm, Elevated circulating follicle stimulating hormone level, Short 5th finger, Radial dev... OMIM:305400
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta, Finger syndactyly ORPHA:1514
Charge Syndrome
Arrhinencephaly, Absent tibia, Retinal coloboma, Malar flattening, Iris coloboma, Hand polydactyl... OMIM:214800
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Postaxial polydactyly ORPHA:544254
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Anosmia, Postaxial foot polydactyly, Postaxial hand polydacty... OMIM:615994
Stromme Syndrome
Micrognathia, Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Iris colo... OMIM:243605
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Micrognathia, Postaxial polydactyly, Ulnar bowing, Cystic hygr... OMIM:617866
Meckel Syndrome, Type 1
Iris coloboma, Foot polydactyly, Syndactyly, Cerebellar hypoplasia, Cerebral hypoplasia, Large pl... OMIM:249000
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Ectopic posterior pituitary OMIM:610125
Pallister-Hall Syndrome
Toe syndactyly, Microphthalmia, Mesoaxial hand polydactyly, Oligodactyly, Hypothalamic hamartoma,... OMIM:146510
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... ORPHA:1505
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... ORPHA:957
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Epiphyseal stippling, Mandibular prognathia, Short metatarsal, Dislocated radial head... OMIM:101800
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Ulnar deviation of the ... OMIM:122880
Goldberg-Shprintzen Syndrome
Tapered finger, Small hand, Pachygyria, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia o... OMIM:609460
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger ORPHA:2776
Chondrodysplasia Punctata 2, X-Linked Dominant
Dandy-Walker malformation, Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, ... OMIM:302960
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalan... ORPHA:2256
Cohen Syndrome
Micrognathia, Microphthalmia, Narrow palm, Tapered finger, Cubitus valgus, Hypoplasia of the zygo... ORPHA:193
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Microcephaly ORPHA:93950
Laurence-Moon Syndrome
Iris coloboma, Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, B... ORPHA:2377
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla... ORPHA:1248
Pfeiffer Syndrome
Mandibular prognathia, Symphalangism affecting the phalanges of the hand, Hypoplasia of the zygom... ORPHA:710
Cri-Du-Chat Syndrome
Metatarsus adductus, Short metatarsal, Short metacarpal, Syndactyly, Anterior open-bite malocclus... OMIM:123450
Multicentric Osteolysis, Nodulosis, And Arthropathy
Broad metatarsal, Widened metacarpal shaft, Interphalangeal joint contracture of finger, Metatars... OMIM:259600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the cerebellum, Hypo... ORPHA:93262
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Subcortical band heterotopia, Talipes... OMIM:601390
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Syndactyly, Short neck, Micromelia, Brachydactyly, Single transverse palmar crease OMIM:614800
Silver-Russell Syndrome 1
Micrognathia, Decreased response to growth hormone stimulation test, Short distal phalanx of the ... OMIM:180860
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Arachnodactyly, Hip dislocation, Hypoplasia of the brainstem, Progressive m... ORPHA:481152
Proboscis Lateralis
Abnormality of ethmoid bone, Chorioretinal coloboma, Aplasia/Hypoplasia of the maxilla, Microphth... ORPHA:141099
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Macrocephaly, Sh... OMIM:169400
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pits, Mandibular progna... OMIM:109400
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Abnormality of toe, Advanced eruption of teeth, Abnormality of f... ORPHA:404448
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Syndactyly, Polydactyly OMIM:614615
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Microphthalmia, Postaxial polydactyly, Neonatal death, Fibular hypoplasia, Preaxial... OMIM:617925
Pfeiffer Syndrome
Elbow ankylosis, Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle p... OMIM:101600
Short Stature With Microcephaly And Distinctive Facies
Talipes equinovarus, Proximal placement of thumb, Microcephaly, Syndactyly, Short distal phalanx ... OMIM:615789
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Malar flattening, Preaxial hand polydactyly, Secondary microcephaly, Hypoplasia of ... ORPHA:79113
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar fl... OMIM:274000
Meier-Gorlin Syndrome 5
Micrognathia, Patellar aplasia, Slender long bone, Hypoplasia of the capital femoral epiphysis, E... OMIM:613805
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement of thumb, Hypop... ORPHA:3103
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Short clavicles, Relative macrocephaly, Metaphyseal widen... OMIM:615777
Bartsocas-Papas Syndrome
Toe syndactyly, Micrognathia, Finger syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Flat acetabular roof, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the lon... OMIM:614091
Kbg Syndrome
Radial deviation of finger, Syndactyly, Low posterior hairline, Clinodactyly, Microcephaly, Singl... OMIM:148050
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormality of the elbow, Abnormal dental enamel morphology, Syno... ORPHA:1005
Kbg Syndrome
Webbed neck, Finger clinodactyly, Short neck, Cutaneous syndactyly, Microcephaly, Single transver... ORPHA:2332
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Finger syndac... ORPHA:3429
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Subcortical band heterotopia, Talipes... OMIM:615546
Branchiootic Syndrome
Branchial fistula, Micrognathia ORPHA:52429
Goldberg-Shprintzen Megacolon Syndrome
Iris coloboma, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly ORPHA:66629
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Mandibular prognathia, Large hands, Cubitus valgus, Microcepha... OMIM:300534
Nablus Mask-Like Facial Syndrome
Tapered finger, Joint contracture of the hand, Secondary microcephaly, Broad neck, Retrognathia, ... OMIM:608156
Fraser Syndrome 1
Abnormal cortical gyration, Cutaneous finger syndactyly, Myelomeningocele, Aplasia/Hypoplasia of ... OMIM:219000
Rubinstein-Taybi Syndrome
Carious teeth, Broad hallux phalanx, Micrognathia, Finger syndactyly, Microcephaly, Hip dysplasia... ORPHA:783
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Bilateral microphthalmos, Syndactyly, Camptodactyly, Short neck, Clinodact... ORPHA:369891
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Hypoplasia of the maxilla, Postaxial polydactyly OMIM:619142
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Fraser Syndrome
Toe syndactyly, Death in infancy, Microphthalmia, Myelomeningocele, Wide pubic symphysis, Anophth... ORPHA:2052
Bor Syndrome
Branchial cyst, Retrognathia ORPHA:107
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Malar flattening, Synostosis of carpal bones, Hypoplasia of the rad... ORPHA:3258
Acrofacial Dysostosis, Palagonia Type
Micrognathia, Short 4th metacarpal, Supernumerary tooth, Small hand, Malar flattening, Finger syn... ORPHA:1787
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Micrognathia, Synostosis of carpal bones, Finger syndactyly, Biparietal narrowing, Camptodactyly ... ORPHA:1323
3C Syndrome
Dandy-Walker malformation, Micrognathia, Death in infancy, Chorioretinal coloboma, Finger syndact... ORPHA:7
Treacher-Collins Syndrome
Micrognathia, Microphthalmia, Branchial fistula, Hypoplasia of the zygomatic bone, Malar flatteni... ORPHA:861
Monosomy 13Q14
Micrognathia, Microphthalmia, Aplasia/Hypoplasia of the thumb, Webbed neck, Finger syndactyly, Sh... ORPHA:1587
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Abnormal midbrain morphology, Micrognathia, T... ORPHA:444072
Cerebrofacioarticular Syndrome
Micrognathia, Dysplastic corpus callosum, Talipes equinovarus, Cerebellar vermis hypoplasia, Synd... ORPHA:314679
Monosomy 9Q22.3
Microphthalmia, Polydactyly, Palmar pits, Delayed eruption of teeth, Macrocephaly, Short neck, Um... ORPHA:77301
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Single transverse palmar crease, Enamel agenesis, Microcephaly, Coxa vara, Sy... OMIM:614701
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Short palm, Prominent fingertip pads, Brachydactyly, Single transverse palmar ... ORPHA:466950
Czeizel-Losonci Syndrome
Micrognathia, Single transverse palmar crease, Radial deviation of the thumb, Myelomeningocele, 3... ORPHA:2437
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia, Broad finger, Broad toe, Small hand, Malar flattening, Short foot, Short palm, Sh... OMIM:271960
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Micrognathia, Umbilical hernia, Postnatal macrocephaly, ... OMIM:305450
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Toe syndactyly, Abnormal corpus callosum morphology, Finger syndactyly, Cerebellar hypoplasia, Sh... ORPHA:3224
8Q21.11 Microdeletion Syndrome
Micrognathia, Microphthalmia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Campt... ORPHA:284160
Apert Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Delayed eruption of teeth... ORPHA:87
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Postaxial polydactyly, Retinal coloboma, Aplastic clavicle, Preaxial polydactyly, Ce... OMIM:616546
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Relative macrocephaly, Micromelia, B... OMIM:617895
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Congenital hip dislocation, Finger syndactyly, Toe clinodactyly, Retrognathia, Cl... ORPHA:217346
Neu-Laxova Syndrome 1
Joint contracture of the hand, Small placenta, Finger syndactyly, Cerebellar hypoplasia, Camptoda... OMIM:256520
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
6P22 Microdeletion Syndrome
Short neck, Clinodactyly, Finger syndactyly ORPHA:251046
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Micrognathia, Rocker bottom foot, Postaxial polydactyly, Long fingers... OMIM:617527
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Microphthalmia, Retinal coloboma, Optic disc hy... OMIM:607323
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Dislocation Of The Hip-Dysmorphism Syndrome
Deviation of finger, Malar flattening, Congenital hip dislocation, Prominence of the premaxilla ORPHA:2412
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly OMIM:300801
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Foot polydactyly, Aplasia/Hypoplasia of the cerebellum, Macroc... ORPHA:60040
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Malar flattening, Abnormal ossification involving the femor... OMIM:215140
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly, Cerebral cortical atrophy ORPHA:404451
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
2Q37 Microdeletion Syndrome
Toe syndactyly, Small hand, Finger syndactyly, Short neck, Microcephaly, Short metacarpal, Short ... ORPHA:1001
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia, Microcephaly ORPHA:1942
Oculodentodigital Dysplasia
Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Finger syndactyly, Ap... ORPHA:2710
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Micrognathia, Myelomeningocele, Hypoplastic frontal sinuses, ... ORPHA:90652
Marshall-Smith Syndrome
Agenesis of corpus callosum, Death in childhood, Malar flattening, Short sternum, Bullet-shaped m... OMIM:602535
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma, Preaxial polydactyly ORPHA:2921
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Congenital hip dislocation, Finger syndactyly, Iris coloboma, Polymicr... ORPHA:1647
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Hamamy Syndrome
Micrognathia, Tapered finger, Long fingers, Webbed neck, Down-sloping shoulders, Syndactyly, Hip ... OMIM:611174
Branchial cyst, Micrognathia, Optic disc coloboma ORPHA:2260
Oliver Syndrome
Cutaneous finger syndactyly, Dental malocclusion, Mandibular prognathia, Short toe, Microcephaly,... ORPHA:2920
Kinsship Syndrome
Dandy-Walker malformation, Micrognathia, Death in infancy, Polydactyly, Mandibular prognathia, Fi... OMIM:619297
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Syndactyly, Abnormal cerebral white matter morphology, Clinodactyly,... ORPHA:2169
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Syndactyly, Hypoplasia of deltoid muscle OMIM:173800
Isolated Osteopoikilosis
Abnormal pelvis bone ossification, Abnormality of femur morphology, Tarsal sclerosis, Abnormality... ORPHA:166119
Microphthalmia, Syndromic 1
Short clavicles, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Webbed neck, Joint contrac... OMIM:309800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Dubowitz Syndrome
Carious teeth, Micrognathia, Microphthalmia, Hypoplasia of the iris, Delayed eruption of teeth, I... OMIM:223370
Crane-Heise Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Aplastic clavicle, Finge... ORPHA:1512
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Micr... OMIM:304050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Cerebellar hypoplasia, Camptodactyly of finger, Cerebral atrophy, Cerebral hypopl... ORPHA:468631
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Fg Syndrome Type 1
Micrognathia, Optic nerve hypoplasia, Broad toe, Malar flattening, Finger syndactyly, Abnormal th... ORPHA:93932
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Geroderma Osteodysplasticum
Tibial bowing, Mandibular prognathia, Malar flattening, Camptodactyly, Femoral bowing, Hypoplasia... OMIM:231070
Joubert Syndrome 2
Chorioretinal coloboma, Brainstem dysplasia, Microphthalmia, Agenesis of cerebellar vermis, Abnor... OMIM:608091
8Q24.3 Microdeletion Syndrome
Branchial cyst, Retinal coloboma, Global brain atrophy, Finger clinodactyly, Short femur, Microre... ORPHA:508488
Lowry-Maclean Syndrome
Micrognathia, Talon cusp, Delayed eruption of primary teeth, Aplasia/Hypoplasia of the corpus cal... ORPHA:2409
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Aplasia/Hypoplasia of the thumb, Broad thumb, Finger syndac... ORPHA:93258
Bloom Syndrome
Malar flattening, Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodacty... OMIM:210900
Khan-Khan-Katsanis Syndrome
Micrognathia, Buphthalmos, Postaxial polydactyly, Colpocephaly, Cerebellar vermis hypoplasia, Cli... OMIM:618460
Shprintzen-Goldberg Craniosynostosis Syndrome
Metatarsus adductus, Micrognathia, Dental malocclusion, Talipes equinovarus, Metaphyseal widening... OMIM:182212
Joubert Syndrome 21
Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Elongated superior ... OMIM:615636
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Micrognathia, Microretrognathia, Postaxial polydactyly, Retinal colobo... OMIM:615948
Sweeney-Cox Syndrome
Micrognathia, Short clavicles, Long fingers, Broad neck, Wide anterior fontanel, Cerebellar hypop... OMIM:617746
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Finger syndactyly ORPHA:1997
Van Den Ende-Gupta Syndrome
Hallux valgus, Talipes equinovarus, Glenoid fossa hypoplasia, Ulnar bowing, Dislocated radial hea... OMIM:600920
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Hypoplasia of the maxilla, Clinodactyly, Microcephaly ORPHA:293939
Adams-Oliver Syndrome
Microphthalmia, Abnormality of the upper limb, Finger syndactyly, Absent hand, Split hand, Brachy... ORPHA:974
Microphthalmia With Linear Skin Defects Syndrome
Micrognathia, Microphthalmia, Anophthalmia, Mandibular aplasia, Abnormal dental enamel morphology... ORPHA:2556
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Focal Dermal Hypoplasia
Toe syndactyly, Short clavicles, Chorioretinal coloboma, Microphthalmia, Hypoplasia of the iris, ... ORPHA:2092
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly ORPHA:531151
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Arachnodactyly, Macrocephaly, Broad thumb, Hypoplasia of the maxilla, Agenesis of c... OMIM:309520
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Lenz-Majewski Hyperostotic Dwarfism
Micrognathia, Diaphyseal thickening, Proximal symphalangism of hands, Agenesis of corpus callosum... OMIM:151050
Postaxial Acrofacial Dysostosis
Micrognathia, Malar flattening, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of fin... ORPHA:246
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Iris coloboma, Foot polydactyly, Cerebellar vermis hypoplasia, Molar toot... ORPHA:2318
Oculodentodigital Dysplasia
Carious teeth, Microphthalmia, Cubitus valgus, 4-5 finger syndactyly, Short middle phalanx of the... OMIM:164200
Joubert Syndrome 1
Chorioretinal coloboma, Occipital myelomeningocele, Brainstem dysplasia, Agenesis of cerebellar v... OMIM:213300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long fingers, Overlapping fingers, Macrocephaly, Long toe, Cutaneous syndactyly, Overlapping toe OMIM:618316
Isolated Split Hand-Split Foot Malformation
Aniridia, Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
19P13.12 Microdeletion Syndrome
Aplasia/Hypoplasia of the cerebellar vermis, Sandal gap, Finger syndactyly, Short neck, Toe clino... ORPHA:254346
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Yunis-Varon Syndrome
Arrhinencephaly, Short middle phalanx of finger, Redundant neck skin, Syndactyly, Cerebellar hypo... ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly, Long palm OMIM:300676
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pericallosal lipoma, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the fronta... ORPHA:306542
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, Broad thumb, Small hand, Malar flattening, Finger syndactyl... ORPHA:93259
Meier-Gorlin Syndrome 4
Micrognathia, Patellar aplasia, Slender long bone, Hypoplasia of the maxilla, Microcephaly OMIM:613804
Filippi Syndrome
Enlarged epiphyses, Clinodactyly of the 5th toe, Finger syndactyly, Bilateral single transverse p... ORPHA:3255
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the zygomatic bone, Hypoplasia of the radius, F... ORPHA:958
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Bilateral microphthalmos OMIM:601186
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Short tibia, Cone-shaped ... ORPHA:2751
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Stillbirth, Duplication of phalanx of hallux OMIM:263630
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot OMIM:603543
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Hypoplasia of the maxilla, Short ... OMIM:300106
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Retrognathia, Acetabular dysplasia, Femoral bowing, Hypoplasia of the maxilla, Micr... OMIM:616462
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Aplasia/Hypoplasia of the patella, Genu varum, Absent glenoid fossa,... OMIM:224690
Nager Syndrome
Micrognathia, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasi... ORPHA:245
Moebius Syndrome
Abnormality of the ulna, Micrognathia, Death in infancy, Talipes equinovarus, Aplasia/Hypoplasia ... ORPHA:570
Pallister-Hall Syndrome
Abnormal prolactin level, Arrhinencephaly, Polydactyly affecting the 4th finger, Broad toe, Mesoa... ORPHA:672
Multiple Pterygium-Malignant Hyperthermia Syndrome
Metatarsus adductus, Long palm, Talipes equinovarus, Tapered finger, Ulnar deviation of finger, W... ORPHA:2215
Endove Syndrome, Limb-Only Type