Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dickkopf WNT signaling pathway inhibitor 1
Synonyms:
mdkk-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
phenotypes
Matching phenotypes Source
Arnold-Chiari Malformation Type I
Brain stem compression, Stiff neck, Areflexia of upper limbs, Myelopathy ORPHA:268882
Idiopathic Juvenile Osteoporosis
ORPHA:85193

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

Disease Similarity of
phenotypes
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
Intellectual Developmental Disorder, Autosomal Recessive 28
Microcephaly OMIM:614347
Intellectual Developmental Disorder, Autosomal Recessive 7
Microcephaly OMIM:611093
Microcephaly 18, Primary, Autosomal Dominant
Microcephaly OMIM:617520
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
Microcephaly DECIPHER:92
Teratocarcinoma-Derived growth factor 1
Microcephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum OMIM:187395
Intellectual Developmental Disorder, Autosomal Recessive 24
Microcephaly OMIM:614345
Arachnoid Cysts, Intracranial
Microcephaly, Macrocephaly OMIM:207790
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly OMIM:616080
Microcephaly 23, Primary, Autosomal Recessive
Microcephaly OMIM:617985
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
Microcephaly, Olivopontocerebellar hypoplasia OMIM:610204
Microcephaly 24, Primary, Autosomal Recessive
Cerebellar vermis hypoplasia, Microcephaly OMIM:618179
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
Microcephaly 8, Primary, Autosomal Recessive
Microcephaly OMIM:614673
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Meckel Syndrome, Type 8
Talipes equinovarus, Microcephaly, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydact... OMIM:613885
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the neck, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydac... ORPHA:294975
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Jawad Syndrome
Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth finger, Absent fourth... OMIM:251255
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... OMIM:206920
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Hydrolethalus
Absent septum pellucidum, Retrognathia, Micrognathia, Abnormality of the sense of smell, Anenceph... ORPHA:2189
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Iris coloboma, Postaxial foot ... ORPHA:139471
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Cutaneous... ORPHA:166024
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Microcephaly, Radioulnar synostosis, Abnormality of the elbow, Fi... ORPHA:3268
15Q11Q13 Microduplication Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Tapered finger, Camptodactyly, Single transverse palmar crease, Branchial cyst, Man... ORPHA:435938
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosu... OMIM:164180
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly ORPHA:1296
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Hypothalamic hamartoma, Micrognathia, Brachyda... OMIM:277170
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Coloboma, Postaxial hand polydactyly, Camptodactyly... OMIM:136760
Trisomy 1Q
Macrocephaly, Microretrognathia, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Agenesis ... ORPHA:261344
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia OMIM:615524
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Trisomy 13
Ectrodactyly, Malar flattening, Bilateral single transverse palmar creases, Anophthalmia, Postaxi... ORPHA:3378
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Microretrognathia, Talipes equinovar... OMIM:236500
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, A... OMIM:113000
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Anophthalmia, Microphthalmia OMIM:221950
Rubinstein-Taybi Syndrome 2
Dental malocclusion, Retrognathia, Micrognathia, Microcephaly, Syndactyly, Carious teeth, Broad h... OMIM:613684
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Polydactyly, Clinodactyly OMIM:615984
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Microphthalmia With Limb Anomalies
True anophthalmia, Abnormality of the upper limb, Hypoplasia of the maxilla, Sandal gap, Bowing o... ORPHA:1106
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Syndactyly, 2-4 toe syndactyly OMIM:241000
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Trismus OMIM:609166
Aminopterin Syndrome Sine Aminopterin
Macrocephaly, Joint contracture of the hand, Arachnodactyly, Micrognathia, Microcephaly, Brachyda... OMIM:600325
Monosomy 5P
Microretrognathia, Small hand, Microcephaly, Short neck, Finger syndactyly ORPHA:281
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad ... ORPHA:380
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly, Coloboma OMIM:613094
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Walker-Warburg Syndrome
Macrocephaly, Absent septum pellucidum, Macrogyria, Microcephaly, Anophthalmia, Cerebellar hypopl... ORPHA:899
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida, Anophthalmia, Deviation of finger ORPHA:1104
Holoprosencephaly
Macrocephaly, Short neck, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Encephalocele, Hy... ORPHA:2162
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Coloboma, Iris coloboma, Clinodactyly, Microphthalmia OMIM:610023
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Joubert Syndrome 16
Polydactyly, Coloboma, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Malar flattening, Microgn... ORPHA:264200
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Camptodactyly of toe, Ca... OMIM:300244
Moebius Syndrome
Talipes equinovarus, Micrognathia, Short neck, Brachydactyly, Short phalanx of finger, Syndactyly... OMIM:157900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Macrocephaly, Molar tooth sign on MRI, Postaxial polydactyly OMIM:300804
Hypomelanosis Of Ito
Macrocephaly, Cerebral atrophy, Microcephaly, Syndactyly, Iris coloboma, Radial deviation of fing... OMIM:300337
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot ... OMIM:614120
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Bilateral talipes equinovarus, Retrognathia, Micrognathia, Postaxial polydactyly... OMIM:618142
Lissencephaly 7 With Cerebellar Hypoplasia
Micrognathia, Microcephaly, Short neck, Neonatal death, Cerebellar hypoplasia, Agyria, Lissenceph... OMIM:616342
Joubert Syndrome 22
Temporal cortical atrophy, 2-3 toe syndactyly, Hypoplasia of the corpus callosum, Coloboma, Posta... OMIM:615665
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Part... ORPHA:363417
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microcephaly, Anophthalmia, Anterior hypop... OMIM:147250
Silver-Russell Syndrome 3
Retrognathia, Syndactyly, Finger clinodactyly, Relative macrocephaly OMIM:616489
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Syndactyly, Polydactyly, Polymicrogyria, Microphthalmia, Megalencephaly,... OMIM:602501
Orofaciodigital Syndrome Xvii
Retrognathia, Partial duplication of thumb phalanx, Short neck, Short middle phalanx of the 2nd f... OMIM:617926
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
X-Linked Mandibulofacial Dysostosis
Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Branchial anomaly, Webbed neck ORPHA:1131
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Macrocephaly, Talipes equinovarus, Camptodactyly of finger, Microcephaly, Tapered finger, Hypopla... ORPHA:85279
Holoprosencephaly 9
Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulati... OMIM:610829
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Microretrognathia, Overlapping fingers, Polydactyly, Long fi... OMIM:300960
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Enamel hy... ORPHA:90322
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Weaver Syndrome
Macrocephaly, Talipes equinovarus, Retrognathia, Micrognathia, Camptodactyly of finger, Large han... ORPHA:3447
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... OMIM:182230
Orofaciodigital Syndrome Xv
Broad hallux, Molar tooth sign on MRI, Agenesis of corpus callosum, Postaxial polydactyly OMIM:617127
Bardet-Biedl Syndrome 22
Microcephaly, Macrocephaly, Postaxial foot polydactyly, Polydactyly OMIM:617119
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Focal Dermal Hypoplasia
Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, Microphthalmia, Anophtha... OMIM:305600
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Curry-Jones Syndrome
Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Coloboma, Polymicrogyria,... OMIM:601707
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Macrocephaly, Cone-shape... ORPHA:397973
Acrootoocular Syndrome
Dental malocclusion, Short toe, Decreased palmar creases, Supernumerary tooth, Decreased response... ORPHA:2980
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Nevus Comedonicus Syndrome
Preaxial polydactyly, Microcephaly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe sy... ORPHA:64754
Charlie M Syndrome
Micrognathia, Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Fin... ORPHA:1406
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Microretrognathia, Arachnodactyly, Camptodactyly of finger, Short... ORPHA:2994
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t... ORPHA:3152
Acromelic Frontonasal Dysostosis
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Hypopituitarism, Hypoplasia o... OMIM:603671
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Hypoplasia... ORPHA:1101
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Cerebrooculonasal Syndrome
Macrocephaly, Malar flattening, Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Hypo... OMIM:605627
20P13 Microdeletion Syndrome
Wide anterior fontanel, Macrocephaly, Microcephaly, Brachydactyly, Polydactyly, Clinodactyly, Fin... ORPHA:313781
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Clinodactyly of the 5th finger, Syndactyly, Delayed eruption of teeth OMIM:619736
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Malar flattening, Micrognathia, Tombstone-shap... OMIM:108721
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Delayed eruption of teeth, Hypo... OMIM:300166
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia, Coloboma ORPHA:141333
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Genu valgum, Hypoplasia of th... OMIM:201000
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe ... OMIM:175700
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Microphthalmia, Absent septum pellucidum, Abnor... ORPHA:2538
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly, Coloboma OMIM:616490
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Cerebellar hypoplasia, Camptodac... OMIM:614175
Al-Gazali-Bakalinova Syndrome
Macrocephaly, Malar flattening, Short neck, Genu valgum, Clinodactyly, Molar tooth sign on MRI, A... OMIM:607131
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Microcephaly, Syndactyly, Hypoplasia of the corpus callosum, Clinodactyly, Pachygyria, Cerebral w... OMIM:619091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Retrognathia, Arachnodactyly, Microcephaly, Syndactyly, Clinodactyly OMIM:619092
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Short middle phalanx of the 2nd finger, Hypoplasia of t... OMIM:156510
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... ORPHA:2756
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
Bardet-Biedl Syndrome 19
Polydactyly, Hyposmia OMIM:615996
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia OMIM:228940
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Metatarsal osteolysis, Micrognathia, Bilateral elbow dislocations, U... OMIM:166300
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Retinal coloboma, Micrognathia, Aplasia/Hypoplasia o... ORPHA:2839
3P25.3 Microdeletion Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, 2-3 finger syndactyly, Tapered finger, Broa... ORPHA:435638
Microgastria-Limb Reduction Defects Association
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Fusion of the left and right thalami, ... OMIM:156810
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Broad hallux phalan... ORPHA:2662
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Vacterl With Hydrocephalus
Aqueductal stenosis, Retrognathia, Micrognathia, Hypoplasia of the radius, Anophthalmia, Arrhinen... ORPHA:3412
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Abnormal corpus callosum morpholo... OMIM:611560
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Macrocephaly, Anophthalmia, Coloboma, 3-4 finger syndactyly, Rhizomelia, Micr... OMIM:615877
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Small hand, Camptodactyly of finger, Short neck, Delayed eruption... ORPHA:915
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Malar flattening, Arachnodactyly,... ORPHA:261330
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... OMIM:122880
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Single transverse palmar crease, Microphthalmia, Clinodactyly of th... OMIM:607932
Joubert Syndrome 14
Malar flattening, Postaxial polydactyly, Coloboma, Microphthalmia, Encephalocele, Dandy-Walker ma... OMIM:614424
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Andersen Cardiodysrhythmic Periodic Paralysis
Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Prominent frontal sinuse... OMIM:170390
Mohr Syndrome
Metaphyseal irregularity, Bilateral postaxial polydactyly, Agenesis of central incisor, Clinodact... OMIM:252100
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Malar flattening, Postaxial polydactyly, Preaxial polydactyly, Micro... OMIM:612651
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Clinodactyly of the 5th finger, Macrocephaly, Prominent fingertip pads, Postaxial polydactyly, Ar... OMIM:619721
Boomerang Dysplasia
Abnormality of femur morphology, Decreased response to growth hormone stimulation test, Abnormal ... ORPHA:1263
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Distal 22Q11.2 Microduplication Syndrome
Macrocephaly, Micrognathia, Branchial fistula, Camptodactyly of toe, Camptodactyly of finger, Mic... ORPHA:261337
Curry-Jones Syndrome
Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic disc coloboma, Iris coloboma, Broa... ORPHA:1553
Acrofrontofacionasal Dysostosis 2
Wide anterior fontanel, Thickened nuchal skin fold, Microcephaly, Syndactyly, Broad hallux, Broad... OMIM:239710
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly, Relative macrocephaly ORPHA:231140
Joubert Syndrome 18
Molar tooth sign on MRI, Polydactyly, Camptodactyly OMIM:614815
Branchiootic Syndrome 1
Retrognathia, Branchial fistula OMIM:602588
Premature Aging Syndrome, Penttinen Type
Micrognathia, Brachydactyly, Delayed eruption of teeth, Slender long bone, Osteolytic defects of ... OMIM:601812
Filippi Syndrome
Cutaneous syndactyly, Microcephaly, Finger clinodactyly, Single transverse palmar crease, Serrate... OMIM:272440
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... ORPHA:950
Meckel Syndrome
Dandy-Walker malformation, Micrognathia, Microcephaly, Anencephaly, Anophthalmia, Postaxial hand ... ORPHA:564
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Microcephaly, Polydactyly OMIM:616910
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Thickened nuchal skin fold, Broad hallux phala... ORPHA:1520
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Micrognathia, Syndactyly, Po... ORPHA:397590
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Rhombencephalosynapsis
Macrocephaly, Microretrognathia, Fusion of the left and right thalami, Polydactyly, Short phalanx... ORPHA:59315
Orofaciodigital Syndrome Iv
Cerebral atrophy, Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, ... OMIM:258860
Summitt Syndrome
Syndactyly OMIM:272350
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly OMIM:619582
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal death, Single tr... OMIM:227270
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Retrognathia, Micrognathia, Microcephaly, Tapered finger,... OMIM:613792
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Syndactyly, Death in infancy, Carious teeth OMIM:226700
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Dental malocclusion, Supernumerary tooth, Decreased response to growth hormone stimulation test, ... OMIM:264475
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Microphthalmia, Relative macrocephaly, Postaxial polydactyly, Preaxial polydac... OMIM:616300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Abnormal ba... ORPHA:397715
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Malan Syndrome
Macrocephaly, Retrognathia, Advanced eruption of teeth, Long fingers, Hypoplasia of the corpus ca... OMIM:614753
Summitt Syndrome
Clinodactyly of the 5th finger, Macrocephaly, Camptodactyly of finger, Brachydactyly, Genu valgum... ORPHA:3210
Slc35A2-Cdg
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Hip subluxation, Ta... ORPHA:356961
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Finger syndactyly, B... ORPHA:1515
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Microcep... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Microcep... ORPHA:352665
Frontorhiny
Basal encephalocele, Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Hypopituitarism... ORPHA:391474
Mullegama-Klein-Martinez Syndrome
Micrognathia, Microcephaly, Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Cohen Syndrome
Thick corpus callosum, Macrodontia of permanent maxillary central incisor, Decreased response to ... OMIM:216550
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Macrocephaly, Dandy-Walker malformation, Syndact... OMIM:300963
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Fifth finger distal phalanx clinodactyly, Broad long bones, Macrodontia of p... OMIM:257850
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Microcephaly, Hypoplasia of the pons, Anterior hypopituitarism, Abnor... ORPHA:280195
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Polydactyly, Postaxial hand polydactyly, Cystic hygroma, Bowing of t... OMIM:603194
Charge Syndrome
Clinodactyly of the 5th finger, Aqueductal stenosis, Microcephaly, Brachydactyly, Anterior hypopi... ORPHA:138
Suleiman-El-Hattab Syndrome
Microretrognathia, Microcephaly, Brachydactyly, Polydactyly, Single transverse palmar crease, Cli... OMIM:618950
Craniosynostosis, Herrmann-Opitz Type
Malar flattening, Micrognathia, Micromelia, Brachydactyly, Split hand, Webbed neck, Finger syndac... ORPHA:2145
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Abnormality of ... ORPHA:1529
Split-Hand/Foot Malformation 3
Split hand, Microretrognathia, Hypoplasia of the maxilla, Camptodactyly OMIM:246560
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
2Q31.1 Microdeletion Syndrome
Short neck, Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, Mi... ORPHA:251014
Branchiooculofacial Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Cleft of chin, Malar flattening, Retinal coloboma... OMIM:113620
20P12.3 Microdeletion Syndrome
Macrocephaly, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxilla ORPHA:261295
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Aquedu... ORPHA:1788
Joubert Syndrome 20
Molar tooth sign on MRI, Syndactyly, Postaxial polydactyly OMIM:614970
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Thickened nuchal skin fold, Deep palmar crease, Hip dyspl... OMIM:616580
Lujan-Fryns Syndrome
Macrocephaly, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Hypoplasia of... ORPHA:776
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly OMIM:613576
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Mosaic Trisomy 1
Macrocephaly, 2-3 finger syndactyly, Finger clinodactyly, Polymicrogyria, Single transverse palma... ORPHA:1692
Joubert Syndrome 32
Macrocephaly, Molar tooth sign on MRI, Polymicrogyria, Postaxial polydactyly OMIM:617757
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Genu valgum... OMIM:608154
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Microphthalmia, Lenz Type
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finge... ORPHA:568
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Micrognathia, Microcephaly, Short neck, Brachydactyly, Syndactyly, Cerebe... OMIM:217980
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Syndactyly, Cerebellar hypoplasia, Clinodactyly, Mandibular prognathia OMIM:618087
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... ORPHA:2251
Congenital Heart Defects And Ectodermal Dysplasia
Microcephaly, Broad thumb, Syndactyly OMIM:617364
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Aplasia/Hypopl... ORPHA:2378
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Dandy-Walker malformation, Micrognathia, S... OMIM:220210
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Talipes equinovarus, Dandy-Walker malformation, Distally placed thumb, Micrognat... OMIM:619148
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Eem Syndrome
Ectrodactyly, Finger syndactyly, Carious teeth ORPHA:1897
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Joubert Syndrome 37
Postaxial polydactyly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Broad nec... OMIM:619185
Pde4D Haploinsufficiency Syndrome
Broad metacarpals, Broad phalanx, Short toe, Short metatarsal, Malar flattening, Micrognathia, Co... ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Long fingers, Tapered finger, Hypoplasia of the maxilla, Agenesis of corpus c... OMIM:218000
Joubert Syndrome 15
Molar tooth sign on MRI, Polydactyly OMIM:614464
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly ORPHA:1825
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Basal ganglia calcification, Anophthalmia, Enamel hypoplasia, Ma... ORPHA:90321
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Hypothalamic hamartoma, Preaxial polydactyly, Micrognathia, Finger clinodac... ORPHA:2754
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Hyposmia, Failure of eruption of permanent teeth, Anophthalmia,... ORPHA:2250
Aminopterin/Methotrexate Embryofetopathy
Micrognathia, Microcephaly, Anencephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Mesome... ORPHA:1908
Aplasia Cutis Congenita
Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Malar flattening, Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation, Coxa ... OMIM:109120
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of t... ORPHA:1307
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Hyposmia, Brachydactyly, Polydactyly, Postax... OMIM:615994
Martsolf Syndrome 1
Short toe, Talipes equinovarus, Slender ulna, Finger joint hypermobility, Micrognathia, Microceph... OMIM:212720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Coloboma, Cystic hygroma, Branchial anomaly, Hip... ORPHA:453499
Alkuraya-Kucinskas Syndrome
Overlapping toe, Macrocephaly, Talipes equinovarus, Adducted thumb, Aplasia/Hypoplasia of the cor... OMIM:617822
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Mic... OMIM:617866
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Finger syndactyly, Spina bifida occulta ORPHA:1514
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Cerebral atrophy, Brachydactyly, Hypoplasia of the corpus callosu... OMIM:614261
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Microretrognathia, Small hand, Microcephaly, Brachydactyly, Bilat... ORPHA:1786
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping toe, 2-3 toe syndactyly, Cerebral atrophy, Adducted thumb, Retrognathia, Deviation of... ORPHA:464738
Miller-Dieker Lissencephaly Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Cavum septum pellucidum, Micrognat... OMIM:247200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, Broad distal phalanx of finger, Abnormal... ORPHA:404440
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone level, Short ne... OMIM:305400
Coffin-Lowry Syndrome
Short distal phalanx of finger, Cerebral cortical atrophy, Microcephaly, Broad finger, Delayed er... ORPHA:192
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... ORPHA:710
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Brachydactyly, Iris coloboma, Hand polydactyly, Finge... ORPHA:2377
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, Cerebral dysmyelination, Persistence of primary te... ORPHA:763
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Agenesis of corpus callosum, Microphthalmia ORPHA:77298
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Optic nerve hypoplasia, Microcephaly, Anophthalmia, Hypoplasia of the cor... OMIM:206900
Pelger-Huet Anomaly
Macrocephaly, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia, Short ... OMIM:169400
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Clinodactyly, Thin corpus c... OMIM:300049
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Microcephaly, Hypoplasia of the corpus callos... OMIM:616362
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Thin metacarpal cortices, Hypoplasia of the maxilla, Osteolysis involv... OMIM:259600
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Syndactyly, Polydactyly, Molar tooth sign on MRI OMIM:614615
Maxillonasal Dysplasia
Short distal phalanx of finger, Mandibular prognathia, Hypoplasia of the maxilla, Aplasia/Hypopla... ORPHA:1248
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla ORPHA:2776
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Short neck, Syndactyly, Pos... OMIM:619879
Charge Syndrome
Down-sloping shoulders, Hypoplasia of the ulna, Umbilical hernia, Microphthalmia, Bilateral talip... OMIM:214800
Stromme Syndrome
Preaxial polydactyly, Micrognathia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, ... OMIM:243605
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Abnormal metacarpal morpho... ORPHA:93262
Meckel Syndrome, Type 4
Microphthalmia, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of cerebel... OMIM:611134
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Cerebral calcification, Microcephaly, Short neck, Microme... ORPHA:1798
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Hypoplasia of the maxilla, Basal ganglia calcification OMIM:608432
Tarp Syndrome
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Micrognathia... OMIM:311900
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Coloboma OMIM:167730
Ring Chromosome 21 Syndrome
Small hand, Microcephaly, Syndactyly, Narrow palm, Clinodactyly ORPHA:1445
Congenital Disorder Of Glycosylation, Type Iil
Cerebral atrophy, Postaxial polydactyly, Retrognathia, Microcephaly, Hypoplasia of the corpus cal... OMIM:614576
Bohring-Opitz Syndrome
Overlapping toe, Short toe, Dislocated radial head, Retrognathia, Micrognathia, Deep palmar creas... OMIM:605039
Short Stature With Microcephaly And Distinctive Facies
Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Microcephaly, Syndactyly,... OMIM:615789
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short neck, Micromelia, Brachydactyly, Syndactyly, Single transverse palmar crease, Sandal gap OMIM:614800
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Hypoplasia of the maxilla, Postaxial polydactyly OMIM:619142
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Short neck, Syndactyly, Camptodactyly, Clinodactyly, Umbilical hernia, B... ORPHA:369891
Acrocallosal Syndrome
Macrocephaly, Tapered finger, Bifid distal phalanx of the thumb, Umbilical hernia, Mandibular pro... OMIM:200990
Witteveen-Kolk Syndrome
Branchial fistula, Hypoplasia of the corpus callosum, Microphthalmia, Dysplastic corpus callosum,... OMIM:613406
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... OMIM:617925
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Retrognathia, Arachnodactyly, Cerebral calcification, Microcephaly, Short palm, Finger syndactyly... ORPHA:73246
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Decreased response to growth hormone stim... OMIM:146510
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Postaxial polydactyly ORPHA:544254
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... OMIM:614091
Pfeiffer Syndrome
Elbow ankylosis, Humeroradial synostosis, Short middle phalanx of toe, Syndactyly, Broad hallux, ... OMIM:101600
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Microcephaly, Sandal gap, Hypoplasia of the maxilla, Finger ... ORPHA:178303
Triploidy
Aplasia/Hypoplasia affecting the eye, Macrocephaly, Micrognathia, Short neck, Iris coloboma, Meni... ORPHA:3376
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Decreased g... OMIM:101800
Meckel Syndrome, Type 1
Short neck, Anencephaly, Bowing of the long bones, Microphthalmia, Cerebral hypoplasia, Postaxial... OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... OMIM:619451
Cohen Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Micrognathia, Micro... ORPHA:193
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula, Congenital hip dislocation OMIM:113650
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Bor Syndrome
Branchial cyst, Retrognathia ORPHA:107
Apert Syndrome
Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Mandibular prognathia... OMIM:101200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Arachnodactyly, Hypoplasia of the corpus callosum, Broad hallux, Broad thumb, Hypoplasia of the m... ORPHA:481152
Branchiootic Syndrome
Micrognathia, Branchial fistula ORPHA:52429
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Coloboma, Ectopic posterior pituitary, Microphthalmia OMIM:610125
Treacher-Collins Syndrome
Malar flattening, Retrognathia, Micrognathia, Branchial fistula, Hypoplasia of the zygomatic bone... ORPHA:861
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Pecto... OMIM:607323
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Limb undergrowth, Abnormal metacarpal morphology, ... ORPHA:3429
Cenani-Lenz Syndrome
Finger syndactyly, Malar flattening, Hypoplasia of the radius, Micromelia, Synostosis of carpal b... ORPHA:3258
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Cri-Du-Chat Syndrome
Microretrognathia, Short metacarpal, Microcephaly, Short neck, Anterior open-bite malocclusion, S... OMIM:123450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thick corpus callosum, Macrocephaly, Postaxial polydactyly, Abnormally large globe, Hypoplasia of... OMIM:603387
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Brachydactyly, Single transverse palmar crease, Branchial anomaly, Shor... ORPHA:466950
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finger, Synost... ORPHA:1323
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Van Maldergem Syndrome 1
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... OMIM:601390
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, Malar flattening, Small hand, Micrognathia, Short neck, Spina bifida occulta... ORPHA:1787
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Congenital hip dislocation, Deviation of finger, Prominence of the premaxilla ORPHA:2412
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Decreased response to growth hormone stimulation test, Micrognath... OMIM:180860
3C Syndrome
Macrocephaly, Dandy-Walker malformation, Abnormal hip bone morphology, Micrognathia, Short neck, ... ORPHA:7
Orofaciodigital Syndrome I
Myelomeningocele, Supernumerary tooth, Microretrognathia, Cerebral atrophy, Hypothalamic hamartom... OMIM:311200
Adnp Syndrome
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Focal white matter lesions, Cerebr... ORPHA:404448
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Split foot, Thickened nuchal skin fold, Micrognathia, 2-3 finger ... ORPHA:2437
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... OMIM:615777
Greenberg Dysplasia
Macrocephaly, Micromelia, Rhizomelia, Hypoplasia of the maxilla, Tetraphocomelia, Fractured rib, ... OMIM:215140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachyd... OMIM:617895
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Palmar hyperkeratosis, Enamel hypoplasia, 4-5 toe syndactyly, Cutan... OMIM:613573
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microcephaly, Coloboma, Hypoplasia of the maxilla, Bilateral micr... ORPHA:2399
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Macrocephaly, Microphthalmia, Irregular ossification of hand b... OMIM:109400
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital encephalocele, Dan... OMIM:607361
6P22 Microdeletion Syndrome
Short neck, Clinodactyly, Finger syndactyly ORPHA:251046
Fraser Syndrome 1
Myelomeningocele, Dental malocclusion, Microcephaly, Anophthalmia, Abnormal cortical gyration, Wi... OMIM:219000
Fraser Syndrome
Myelomeningocele, Dental malocclusion, Microcephaly, Anophthalmia, Wide pubic symphysis, Death in... ORPHA:2052
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Subcortical band heterotopia, Progr... OMIM:618737
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Subaortic Stenosis--Short Stature Syndrome
Short toe, Malar flattening, Small hand, Short neck, Broad finger, Short phalanx of finger, Hypop... OMIM:271960
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short ... ORPHA:959
Roberts Syndrome
Hypoplasia of the radius, Short neck, Abnormality of the upper limb, Radioulnar synostosis, Sanda... ORPHA:3103
Van Maldergem Syndrome 2
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... OMIM:615546
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma ORPHA:2921
Proboscis Lateralis
Macrocephaly, Abnormal facial skeleton morphology, Optic nerve hypoplasia, Abnormal ethmoid bone ... ORPHA:141099
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Hypoplasia of the maxilla OMIM:618302
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Flared iliac wing, Malar flattening, Preaxial polydactyly, M... ORPHA:90652
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Absent middle phalanx of 3rd finger, Micrognathia, Absent mid... OMIM:308050
Opitz-Kaveggia Syndrome
Wide anterior fontanel, Joint contracture of the hand, Prominent fingertip pads, Split hand, Micr... OMIM:305450
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Synostosis of carpal bones, Brac... ORPHA:1005
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla ORPHA:93950
Neu-Laxova Syndrome 2
Micrognathia, Microcephaly, Short neck, Cerebellar hypoplasia, Lissencephaly, Rocker bottom foot,... OMIM:616038
Kbg Syndrome
Cutaneous syndactyly, Short neck, Finger clinodactyly, Microcephaly, Single transverse palmar cre... ORPHA:2332
Goldberg-Shprintzen Syndrome
Small hand, Microcephaly, Short neck, Tapered finger, Hypoplasia of the corpus callosum, Polymicr... OMIM:609460
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Micrognathia, Broad hallux phalanx, Microcephaly, Brachydactyly, ... ORPHA:783
Mandibulofacial Dysostosis-Microcephaly Syndrome
Malar flattening, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Preaxial hand ... ORPHA:79113
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
17Q12 Microduplication Syndrome
Cortical dysplasia, Microphthalmia, Finger syndactyly, Toe syndactyly ORPHA:261272
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Absent thumb, Micrognathia, Microcephaly,... ORPHA:1234
Multiple Pterygium-Malignant Hyperthermia Syndrome
Talipes equinovarus, Arachnodactyly, Prominence of the zygomatic bone, Camptodactyly of finger, A... ORPHA:2215
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Retrognathia, Short neck, Tapered finger, Camptodactyly, Hypoplasi... OMIM:608156
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Macrocephaly, Talipes equinovarus, Micrognathia, Microcephaly, Br... OMIM:300534
Oligomeganephronia
Branchial cyst, Micrognathia, Optic disc coloboma ORPHA:2260
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Talipes equinovarus, Micrognathia, Microcephaly, Syndactyly, Hypoplas... ORPHA:314679
Kinsship Syndrome
Dislocated radial head, Micrognathia, Microcephaly, Short neck, Polydactyly, Single transverse pa... OMIM:619297
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microcephaly, Brachydactyly, Short... OMIM:614701
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Anophthalmia, Hypoplasia of the corpus callosum, Occipita... OMIM:615636
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Poland Syndrome
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle OMIM:173800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Macrocephaly, Hypoplasia of the maxilla, Long palm OMIM:300676
Apert Syndrome
Absent septum pellucidum, Micromelia, Delayed eruption of teeth, Broad thumb, Hypoplasia of the m... ORPHA:87
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... OMIM:274000
Sweeney-Cox Syndrome
Wide anterior fontanel, Short clavicles, Micrognathia, Cutaneous syndactyly, Cerebellar hypoplasi... OMIM:617746
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... ORPHA:166119
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Carious teeth ORPHA:1997
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Malar flattening, Bilateral talipes equinovarus, Postaxia... OMIM:302960
Neu-Laxova Syndrome 1
Short neck, Micromelia, Small placenta, Microphthalmia, Rocker bottom foot, Calcaneovalgus deform... OMIM:256520
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Postaxial Acrofacial Dysostosis
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... ORPHA:246
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Macrocephaly, Cutaneous syndactyly, Overlapping fingers, Long fingers, Long toe OMIM:618316
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad thumb, Hallux varus, Short foot, S... ORPHA:93258
Monosomy 9Q22.3
Macrocephaly, Calcification of falx cerebri, Short neck, Polydactyly, Delayed eruption of teeth, ... ORPHA:77301
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Retrognathia, Microcephaly, Congenital hip disl... ORPHA:217346
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Micrognathi... ORPHA:444072
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Macrocephaly, Optic disc col... OMIM:608091
Orofaciodigital Syndrome Xiv
Microretrognathia, Supernumerary tooth, Postaxial polydactyly, Retinal coloboma, Micrognathia, Pr... OMIM:615948
2Q37 Microdeletion Syndrome
Clinodactyly of the 5th finger, Macrocephaly, Small hand, Microcephaly, Short neck, Brachydactyly... ORPHA:1001
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Single transverse palmar crease, Broad hallux, Hypoplasia of the maxill... OMIM:180849
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Retinal coloboma, Preaxial polydactyly, Short neck, Anencephaly, Micromeli... OMIM:616546
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Cranium bifidum occultum, Hypoplasia... ORPHA:306542
Myoclonic-Astatic Epilepsy
Microcephaly, Syndactyly, Microphthalmia ORPHA:1942
8Q24.3 Microdeletion Syndrome
Short neck, Congenital hip dislocation, Micromelia, Finger clinodactyly, Hypoplasia of the corpus... ORPHA:508488
Meier-Gorlin Syndrome 5
Micrognathia, Microcephaly, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphy... OMIM:613805
Oculodentodigital Dysplasia
Cerebral calcification, Aplasia/Hypoplasia of the cerebellum, Carious teeth, Umbilical hernia, Ab... ORPHA:2710
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Micrognathia, Camptodactyly of finger, Short neck, Abnormal me... ORPHA:284160
Fg Syndrome Type 1
Macrocephaly, Small pituitary gland, Malar flattening, Micrognathia, Optic nerve hypoplasia, Limi... ORPHA:93932
Microphthalmia, Syndromic 1
Webbed neck, Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Pro... OMIM:309800
Monosomy 13Q14
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Short neck, Brachydactyly, Hypoplasia... ORPHA:1587
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly ORPHA:2440
Chromosome 8Q21.11 Deletion Syndrome
Micrognathia, Short neck, Syndactyly, Hypoplasia of the corpus callosum, Camptodactyly, Absent pa... OMIM:614230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Postaxia... OMIM:613091
Van Den Ende-Gupta Syndrome
Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Hypoplasia of the max... OMIM:600920
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Malar flattening, Microcephaly, Cerebellar hypoplasia, I... OMIM:157170
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Supernumerary tooth, Abnormal hypothalamus morphology, Retrog... ORPHA:314621
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla, Biparietal narrowing ORPHA:228396
Goldberg-Shprintzen Megacolon Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Iris coloboma, Pachygyria, Finger syndactyly ORPHA:66629
Focal Dermal Hypoplasia
Short clavicles, Abnormal palmar dermatoglyphics, Finger syndactyly, Split foot, Hand polydactyly... ORPHA:2092
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Abnormality of the sense of smell, Short neck... ORPHA:958
Craniofacial Microsomia
Microphthalmia, Malar flattening, Micrognathia, Maxillozygomatic hypoplasia, Partial duplication ... OMIM:164210
Nager Syndrome
Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of t... ORPHA:245
Microphthalmia, Syndromic 9
Micrognathia, Anophthalmia, Bilateral microphthalmos OMIM:601186
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Holt-Oram Syndrome
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... ORPHA:392
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... OMIM:300106
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Malar flattening, Small hand, Broad hallux phalanx, Short hallux, Deviation ... ORPHA:93259
Microphthalmia With Linear Skin Defects Syndrome
Absent septum pellucidum, Retrognathia, Micrognathia, Microcephaly, Anophthalmia, Mandibular apla... ORPHA:2556
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly OMIM:263630
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of hallux phalanx, Finge... ORPHA:2751
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Brachydactyly, Abnormality of the upper limb, Abnorm... ORPHA:974
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Buphthalmos, Micrognathia, Microcephaly, Cerebellar vermis hypoplasia, Cli... OMIM:618460
Limb-Mammary Syndrome
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand OMIM:603543
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Cerebral cortical atrophy, Postaxial polydactyly, Cessation of head g... OMIM:617527
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Wide anterior fontanel, Dislocated radial head, Talipes equinovarus, Joint c... OMIM:182212
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Hand polydactyly, Foot polyda... ORPHA:60040
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Cerebral cortical atrophy, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morphology, A... ORPHA:3224
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Lowry-Maclean Syndrome
Retrognathia, Micrognathia, Microcephaly, Single transverse palmar crease, Hypoplasia of the maxi... ORPHA:2409
Aicardi Syndrome
Prominence of the premaxilla, Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Opt... OMIM:304050
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callo... ORPHA:1647
Moebius Syndrome
Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... ORPHA:570
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Pachygyria, 2-5 fing... ORPHA:468631
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Proximal symphalangism of hands, Hyperextensibility of the finger joints, ... OMIM:151050
Stickler Syndrome Type 1
Abnormal epiphysis morphology, Hypoplasia of the maxilla, Abnormality of vertebral epiphysis morp... ORPHA:90653
Cranioectodermal Dysplasia 3
Macrocephaly, Postaxial polydactyly, Micrognathia, Brachydactyly, Syndactyly, Sandal gap, Hypopla... OMIM:614099
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Pallister-Hall Syndrome
Macrocephaly, Hypothalamic hamartoma, Umbilical hernia, Microphthalmia, Polydactyly affecting the... ORPHA:672
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Methylcobalamin Deficiency Type Cble
Microcephaly, Syndactyly, Abnormal cerebral white matter morphology, Clinodactyly, Hypoplasia of ... ORPHA:2169
Dubowitz Syndrome
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Syndactyly, Delayed eruption of teeth... OMIM:223370
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Malar flattening, 2-3 finger syndactyly... OMIM:269500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macrocephaly, Arachnodactyly, Micrognathia, Hyperextensibility of the finger joints, Broad thumb,... OMIM:309520
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Macrocephaly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brac... OMIM:615503
Meier-Gorlin Syndrome 1