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Gene: Dkk1 MGI:1329040

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Dkk1 (2 diseases)
Human diseases predicted to be associated with Dkk1 (746 diseases)

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		Areflexia of upper limbs, Myelopathy, Stiff neck, Brain stem compression	ORPHA:268882
Idiopathic Juvenile Osteoporosis			ORPHA:85193

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

Disease	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	Absent septum pellucidum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:187395
Intellectual Developmental Disorder, Autosomal Recessive 24	Microcephaly	OMIM:614345
Microcephaly 23, Primary, Autosomal Recessive	Microcephaly	OMIM:617985
Triglyceride Storage Disease, Type I	Microcephaly	OMIM:190420
Encephalomalacia, Multilocular	Encephalomalacia, Microcephaly	OMIM:225700
Intellectual Developmental Disorder, X-Linked 63	Microcephaly	OMIM:300387
Microcephaly 11, Primary, Autosomal Recessive	Microcephaly	OMIM:615414
Seckel Syndrome 6	Primary microcephaly	OMIM:614728
Pontocerebellar Hypoplasia, Type 5	Microcephaly, Olivopontocerebellar hypoplasia	OMIM:610204
Microcephaly 24, Primary, Autosomal Recessive	Cerebellar vermis hypoplasia, Primary microcephaly	OMIM:618179
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality	Microcephaly	OMIM:271110
Microcephaly 12, Primary, Autosomal Recessive	Simplified gyral pattern, Primary microcephaly	OMIM:616080
Dihydropteridine Reductase Deficiency	Microcephaly	ORPHA:226
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Microcephaly 8, Primary, Autosomal Recessive	Primary microcephaly	OMIM:614673
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Abnormality of the neck, Stillbirth, Polydactyly, Abnormal hip...	ORPHA:294975
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Mosaic Variegated Aneuploidy Syndrome 4	Microcephaly	OMIM:620153
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Short neck, Depressed nasal r...	OMIM:613885
Verheij Syndrome	Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Microcephaly, Short neck, Broad nasal t...	OMIM:615583
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Microcephaly	OMIM:241000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Megalencephaly, Postaxial hand polydactyly, Thick corpus callosum, Macrocephaly, Poly...	OMIM:615938
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Postaxial hand polyda...	ORPHA:2935
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Microcephaly	OMIM:271109
Microphthalmia, Syndromic 12	Anophthalmia, Broad nasal tip, Micrognathia, Wide nasal bridge, Neonatal death, Microphthalmia, R...	OMIM:615524
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atrophy, Genu valgum, Cutaneous synd...	ORPHA:166024
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Cleft ala nasi, Orbital encephalocele, Hypoplasia of th...	OMIM:164180
Frontonasal Dysplasia 1	Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand ...	OMIM:136760
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda...	ORPHA:139471
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Postaxial hand polydactyly, Ane...	ORPHA:2189
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly	ORPHA:238446
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of...	ORPHA:3268
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Mandibular prognathia, Single transverse palmar crease, Tapere...	ORPHA:435938
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Short neck, Wide nasal bridge, Flat...	OMIM:607131
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm...	ORPHA:261344
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly	ORPHA:1296
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening,...	OMIM:615984
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Redundant neck skin, Single transverse palmar crease, Antever...	OMIM:236500
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Deviation of finger, Iris...	ORPHA:1104
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia of the pons, ...	ORPHA:411986
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ...	ORPHA:3378
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Monosomy 5P	Microretrognathia, Finger syndactyly, Short neck, Microcephaly, Small hand, Wide nasal bridge	ORPHA:281
Holoprosencephaly	Anophthalmia, Short neck, Depressed nasal ridge, Absent nares, Chorioretinal coloboma, Aplasia/Hy...	ORPHA:2162
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Decreased response to growth ho...	OMIM:147250
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f...	OMIM:600384
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Convex nasal ridge, Microcephaly, Micrognathia, Prominent nose, Carious...	OMIM:613684
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Short distal phalanx of finger	OMIM:609166
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Postaxial polydactyly, Wide nasal bridge, Macrocephaly, Molar tooth...	OMIM:300804
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph...	OMIM:600325
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,...	OMIM:614815
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormal nasopharynx morphology, Depressed nasal bridge, Short neck, M...	OMIM:157900
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Postaxial polydactyly	OMIM:613094
Walker-Warburg Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis...	ORPHA:899
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly...	OMIM:605627
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Depressed nasal bridge, Megalencephaly, Progressive macrocephaly, Polydactyly, Microp...	OMIM:602501
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Anterior pituitary hypoplas...	ORPHA:264200
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:619736
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Abnormal cortical gyration, Optic nerve hypoplasia, Microce...	OMIM:610829
Joubert Syndrome 16	Encephalocele, Coloboma, Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Microcephaly, Micrognathia, Preax...	OMIM:618142
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Microcephaly, Branchial anomaly, Hypoplasia of the zygomati...	ORPHA:1131
Orofaciodigital Syndrome Xvii	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Partial duplication of thumb ...	OMIM:617926
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hypomelanosis Of Ito	Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce...	OMIM:300337
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Microcephaly, Hypoplasia of the ...	ORPHA:85279
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proxi...	ORPHA:363417
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Prominent nasal bridge, Preax...	OMIM:617927
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario...	OMIM:617102
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn...	OMIM:615665
Anencephaly 2	Anophthalmia, Anencephaly, Bifid nose	OMIM:619452
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ...	ORPHA:370010
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
20P13 Microdeletion Syndrome	Finger syndactyly, Prominent nasal bridge, Microcephaly, Wide anterior fontanel, Polydactyly, Mac...	ORPHA:313781
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Cleft ala nasi, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Abnormality of the nose, 2-3 finger syndactyly, Cur...	ORPHA:3152
Septooptic Dysplasia	Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Decreased response to gr...	OMIM:182230
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Anteverted nares, Postaxial polydactyly, Microcephaly, Tapered finger, Micrognat...	OMIM:613792
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Keipert Syndrome	Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop...	ORPHA:2662
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary...	ORPHA:90322
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint of ...	OMIM:300166
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Large hands, Talipes equino...	ORPHA:3447
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptoda...	ORPHA:261330
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal pla...	ORPHA:435638
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Prominent ...	ORPHA:2378
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Molar tooth si...	OMIM:614120
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly	OMIM:617119
Craniofrontonasal Dysplasia	Thickened nuchal skin fold, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of...	ORPHA:1520
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplica...	OMIM:617127
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met...	ORPHA:1406
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Joubert Syndrome 40	Molar tooth sign on MRI, Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Depressed nasal bridge, Short neck, Elbow dislocation, Tom...	OMIM:108721
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Summitt Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Depressed nasal ridge, Genu valgum, Macroc...	ORPHA:3210
Filippi Syndrome	Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Underdeveloped nasal alae, Wid...	OMIM:272440
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Anteverted nares, Postaxial polydactyly, Micrognathia, Depressed nasal bridge, Bulbou...	OMIM:615761
Mohr Syndrome	Syndactyly, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polyda...	OMIM:252100
Orofaciodigital Syndrome Viii	Syndactyly, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia	OMIM:300484
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Shor...	ORPHA:2994
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida...	ORPHA:64754
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Molar tooth sign o...	OMIM:277170
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Abnorma...	ORPHA:1825
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridg...	OMIM:614424
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Single transverse palmar crease, ...	ORPHA:915
Acrofrontofacionasal Dysostosis 2	Thickened nuchal skin fold, Syndactyly, Wide nose, Redundant neck skin, Broad hallux, Microcephal...	OMIM:239710
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar de...	ORPHA:1101
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Coloboma	ORPHA:141333
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly	OMIM:213010
Alkuraya-Kucinskas Syndrome	Micrognathia, Clinodactyly, Webbed neck, Hypoplasia of the brainstem, Dandy-Walker malformation, ...	OMIM:617822
Orofaciodigital Syndrome Xi	Bulbous nose, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl...	OMIM:619091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Microcephaly, Clinodactyly, Retrognathia	OMIM:619092
Acromelic Frontonasal Dysostosis	Preaxial polydactyly, Patellar hypoplasia, Short tibia, Cavum septum pellucidum, Agenesis of corp...	OMIM:603671
Joubert Syndrome 15	Molar tooth sign on MRI, Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger	OMIM:618725
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev...	ORPHA:59315
Joubert Syndrome 37	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial polydactyly, Wide nasal brid...	OMIM:619185
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly, Coloboma	OMIM:616490
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Wide nose, Toe syndactyly, Camptodactyly of finger, Tap...	ORPHA:261337
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Macrocephaly, Microphthalmia, 3-4 finger ...	OMIM:615877
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Molar tooth sign on MRI, Shor...	OMIM:616300
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ...	OMIM:166300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu ...	OMIM:619721
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Microcephaly, Short neck, Humeroradial synost...	OMIM:251230
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Congenital muscular torticollis, Anophthalmia, Absent septum p...	ORPHA:2538
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Micrognathia, Coloboma, Clinodactyly of the 5th fi...	OMIM:607932
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Hypoplasia of the...	OMIM:614753
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognath...	OMIM:257850
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu...	OMIM:611560
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ...	OMIM:615996
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Hypoplasia of the radius, Hip disl...	ORPHA:3412
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macro...	ORPHA:261295
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Anteverted nares, Depressed nasal bridge, Proximal placement of ...	OMIM:217980
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Underdeveloped nasal alae, Broad nas...	ORPHA:453504
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Micrognathia, Preaxial hand ...	ORPHA:564
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Underdeveloped nasal alae, Broad nas...	ORPHA:352665
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Webbed neck, Malar flattening, Short nos...	ORPHA:2145
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Microcephaly, Wide nasal bridge, Polydactyly,...	OMIM:618950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Micrognathia, Proxima...	ORPHA:397715
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Hypopla...	OMIM:620099
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognat...	OMIM:113620
Frontorhiny	Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplast...	ORPHA:391474
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Cohen Syndrome	Short metacarpal, Single transverse palmar crease, Decreased response to growth hormone stimulati...	OMIM:216550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Abnormal nasal mor...	ORPHA:404440
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Porencephalic cyst, Cerebral atrophy, Hand p...	OMIM:258860
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Abnormal dental enamel morphology...	ORPHA:1515
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry	ORPHA:231140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Broad nasal tip, Genu varum, Hip dislocation, Wide nasal bridge, Deep palmar crease, ...	OMIM:619451
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Depressed nasal bridge, Aplasia/Hypoplasia of the cerebe...	ORPHA:138
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide a...	OMIM:300963
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly	OMIM:614845
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Sma...	ORPHA:397590
Chromosome 13Q33-Q34 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Advanced eruption of teeth, Distally placed thumb,...	OMIM:619148
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5t...	ORPHA:251014
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Cortical dysp...	OMIM:613406
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Death in infancy	OMIM:226700
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal...	ORPHA:1692
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ...	ORPHA:50815
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Prominent nasal bridge, Microgna...	ORPHA:2754
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Single naris, Anosmia, Hypoplasia of the ol...	ORPHA:2250
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, A...	OMIM:612651
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Summitt Syndrome	Syndactyly	OMIM:272350
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognathia...	OMIM:620157
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ...	ORPHA:776
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Bulbous nose, Wide nasa...	ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Underdeveloped nasal alae, Increased nuchal translucency, Wide nasal bridge, Colobo...	ORPHA:453499
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Abnormality of the hand, Short neck, B...	ORPHA:369891
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar...	ORPHA:508488
Joubert Syndrome 20	Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the cerebellum, Advanced eruption of teeth, Thic...	ORPHA:192
Joubert Syndrome 33	Molar tooth sign on MRI, Syndactyly, Macrocephaly	OMIM:617767
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Microcephaly, Pachy...	OMIM:247200
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:613576
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Microg...	OMIM:220210
Martsolf Syndrome 1	Short metacarpal, Broad nasal tip, Depressed nasal bridge, Microcephaly, Metatarsus adductus, Sle...	OMIM:212720
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Prominent nasal bridge, Microcephaly, Micro...	OMIM:243605
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Slc35A2-Cdg	Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Short tibia, Da...	ORPHA:356961
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Microcephaly, Optic disc c...	ORPHA:568
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Wide nose, Anophthalmia, Cleft ala nasi, Abnormal...	OMIM:219000
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Hogue-Janssen Syndrome 2	Broad hallux, Anteverted nares, Postaxial polydactyly, Microcephaly, Hip dysplasia, Hypoplasia of...	OMIM:616362
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Cerebral calcification, Abnormal dental enamel mor...	ORPHA:1798
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Microme...	ORPHA:1908
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Anteverted nares, Depressed nasal ridge...	ORPHA:2412
Pelger-Huet Anomaly	Depressed nasal bridge, Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, ...	OMIM:169400
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Neonatal death, Distal shortening of limbs...	OMIM:146510
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Microcephaly, Hypoplasia of t...	ORPHA:178303
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Clinodactyly of t...	OMIM:167730
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter abnormalities, 2-3 ...	OMIM:218000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c...	OMIM:608154
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Microcephaly, Cerebellar hypoplasia, Clinodactyly, Short nose	OMIM:618087
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Single transverse palmar crease, Cavum septum pellucidum, Dilated third ve...	ORPHA:464738
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Aplasia/Hypoplasia of...	ORPHA:93262
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Basal ganglia calcificati...	ORPHA:90321
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p...	ORPHA:280195
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Wide nasal bridge, Symphalan...	ORPHA:710
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Microcephaly, Carious teeth, Small hand, Web...	ORPHA:1786
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Death in infancy, Anteverted nares, Depressed nasal b...	OMIM:615789
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Broad hallux, Single transverse palmar crease, Depressed nasal bridg...	OMIM:620186
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hip disl...	ORPHA:481152
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement of thumb, Micr...	OMIM:620370
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of finger	ORPHA:2776
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Anteverted nares, Tapered finger, Meso...	OMIM:605039
Eem Syndrome	Carious teeth, Finger syndactyly, Ectrodactyly	ORPHA:1897
Joubert Syndrome 27	Molar tooth sign on MRI, Polydactyly	OMIM:617120
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Short nose, Simplified gyral pattern, Cerebral atrophy, Hyp...	OMIM:614261
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Tarp Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Single transverse palmar crease, Rocker bottom fo...	OMIM:311900
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Fraser Syndrome	Encephalocele, Finger syndactyly, Death in infancy, Toe syndactyly, Anophthalmia, Cleft ala nasi,...	ORPHA:2052
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Macrocephaly, Malar flatt...	OMIM:109120
Kbg Syndrome	Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Microcephaly, Short ne...	ORPHA:2332
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Microcephaly	OMIM:615284
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Short neck, Micrognathia, Wide anteri...	OMIM:617925
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare...	OMIM:619879
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Overhanging nasa...	OMIM:619142
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurrent upper res...	ORPHA:2399
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Iris coloboma, B...	ORPHA:2377
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short finger, Clinodactyly,...	OMIM:300049
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:77298
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h...	OMIM:611134
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t...	OMIM:214800
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microce...	OMIM:206900
Acrocallosal Syndrome	Mandibular prognathia, Coloboma, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Mic...	OMIM:200990
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Prominent nasal bridge, Tapered finger, Microcepha...	ORPHA:193
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Choanal atresia, Micrognathi...	ORPHA:861
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Aplasia of the nasal bone, Prominent nasal bridge, Micr...	OMIM:601812
3C Syndrome	Finger syndactyly, Death in infancy, Depressed nasal bridge, Short neck, Micrognathia, Wide nasal...	ORPHA:7
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Proboscis, Choanal atres...	ORPHA:141099
Triploidy	Finger syndactyly, Short neck, Micrognathia, Meningocele, Aplasia/Hypoplasia of the corpus callos...	ORPHA:3376
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Micrognathia, Molar tooth sign on MRI, Agenesis of corpus ca...	OMIM:249000
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Anteverted nar...	OMIM:101800
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Anteverted nares, Depressed n...	ORPHA:1001
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Ring Chromosome 21 Syndrome	Syndactyly, Microcephaly, Small hand, Narrow palm, Clinodactyly	ORPHA:1445
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Wide nose, Prominent nasal bridge, Microcephaly, Underdeve...	ORPHA:3255
Desbuquois Dysplasia 2	Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Depressed nasal bridge, Single tra...	OMIM:615777
Silver-Russell Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Short distal pha...	OMIM:180860
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:610125
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Cerebral atrop...	OMIM:614576
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hyp...	OMIM:617895
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short pa...	ORPHA:73246
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas...	ORPHA:783
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Microcephaly	ORPHA:544254
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Small hand, Clinodactyly of the 5th finger, Retrognathia	OMIM:616489
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,...	ORPHA:404448
Oculodentodigital Dysplasia	Mandibular prognathia, Cerebral calcification, Micrognathia, Aplasia/Hypoplasia of the cerebellum...	ORPHA:2710
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo...	OMIM:215140
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Abnormal cortical gyration, Microcephaly, Underdeveloped nasal ala...	OMIM:311200
Opitz-Kaveggia Syndrome	Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Choanal atresia...	OMIM:305450
Myoclonic-Astatic Epilepsy	Syndactyly, Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae	ORPHA:1942
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Bor Syndrome	Branchial cyst, Retrognathia	ORPHA:107
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, ...	OMIM:614701
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Branchiootic Syndrome	Branchial fistula, Micrognathia	ORPHA:52429
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Single naris, Hypoplasia of the brainstem, ...	OMIM:615636
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, Micrognathia, Supernumerary tooth, Bulbous nose, Small hand, Malar...	ORPHA:1787
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Encephalocele, Depres...	ORPHA:90652
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Congenital hip dislocation, Abnormal cerebral morphology	OMIM:113650
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, Hypoplasia of the corpus c...	OMIM:618737
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, M...	OMIM:601707
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, M...	OMIM:123450
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Periventricular leukomalacia, Wide nasal bridge, Microcephaly	OMIM:618302
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Prominent nose, Long fingers...	OMIM:618316
Cerebrofacioarticular Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Dysplastic corpus callosum,...	ORPHA:314679
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Choanal atresia, Micrognathia, Broad nasa...	OMIM:617746
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Down-sloping shoulders, Spina bifida, Palmar pits, Irregular ossification ...	OMIM:109400
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Van Maldergem Syndrome 1	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Subcort...	OMIM:601390
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micr...	ORPHA:2437
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Short neck, Mi...	OMIM:616038
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary microcephaly, Malar...	ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Macrocephaly	OMIM:300676
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Microcephaly, Prominent nose, Abnormality o...	ORPHA:1005
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Short neck, Micrognath...	OMIM:210710
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Low posterior hairline, Biparietal narr...	ORPHA:1323
Kinsship Syndrome	Mandibular prognathia, Death in infancy, Single transverse palmar crease, Coxa valga, Microcephal...	OMIM:619297
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Bilateral microphthalmos, Wide nasal bridge, Neonatal death	OMIM:601186
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Aplasia/Hy...	ORPHA:2318
Mend Syndrome	Microretrognathia, Redundant neck skin, Overlapping toe, Broad hallux, Prominent nasal bridge, Mi...	OMIM:300960
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Colobom...	OMIM:180849
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Epiphyseal stippling, Abnormal pelvic girdle bone ...	OMIM:302960
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Clinodact...	ORPHA:3103
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly, Dan...	OMIM:607361
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Depressed nasal bridge, Micrognathia, Hypop...	OMIM:615546
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Long palm, Camptodactyly of f...	ORPHA:2215
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Megalencephaly, Abnormally large globe, Thick corpus callosum, Hypoplasia ...	OMIM:603387
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Depressed nasal bridge, Brainstem dysplasia, Postax...	OMIM:608091
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Short neck	ORPHA:251046
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Hand polyd...	ORPHA:220493
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Micrognathia, Hypoplasia of the maxi...	OMIM:300534
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Remnants of the hyaloid vascular system, Pr...	OMIM:157170
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, M...	OMIM:616546
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Single transverse palmar crease, Abnormal midbrain morphology, Tapered finger, ...	ORPHA:444072
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Tapered finger, Microcephaly, Short neck, Hypoplasia of the maxilla, Incr...	OMIM:609460
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillb...	OMIM:263630
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Short neck, Micrognathia, Underdeveloped n...	ORPHA:284160
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Underdeveloped nasal...	ORPHA:217346
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Microcephaly, Wide nasal bridge, Hypoplasia of the corpus callosum, Pachygyria...	ORPHA:66629
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Anteverted nares	OMIM:601163
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Microcephaly, Short n...	ORPHA:1587
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri...	OMIM:309520
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d...	OMIM:256520
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, Hypo...	ORPHA:959
Lowry-Maclean Syndrome	Short nasal bridge, Single transverse palmar crease, Delayed eruption of primary teeth, Microceph...	ORPHA:2409
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Palmar pits, Polydactyly, Calcification of falx cerebri, M...	ORPHA:77301
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Microcephaly	ORPHA:93950
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormal nasal morphology, Cerebellar hypoplasia...	ORPHA:3224
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Broad hall...	OMIM:615948
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Choanal atresia, Cutaneous syndactyly	OMIM:119580
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly	ORPHA:261272
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Short neck, Micrognathia, Underdeveloped nasal alae, Wide nasal bri...	OMIM:614230
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr...	OMIM:617527
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Optic nerve hypoplasia, Optic disc hypoplasia, Thick nasal alae, ...	ORPHA:79345
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinoda...	OMIM:274000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy...	OMIM:614800
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hand polydactyly, Foot polydactyly, Ma...	ORPHA:60040
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Microcephaly, Recurre...	ORPHA:293939
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly	ORPHA:1997
Oligomeganephronia	Branchial cyst, Optic disc coloboma, Micrognathia	ORPHA:2260
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Depressed nasal bridge, Camptodactyly	OMIM:616006
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Hypoplasia...	OMIM:608156
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Biparietal narrowing, Clinodactyl...	ORPHA:228396
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Aplasia/Hypopla...	ORPHA:254346
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Anteverted nares, Aplastic clavicle, Dep...	ORPHA:1512
Kury-Isidor Syndrome	Finger syndactyly, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, Short neck,...	OMIM:619762
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Wide nasal bridge, Low posterior hairline	ORPHA:1252
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Depressed nasal bridge, 2-3 finger syndactyly, Wide nasal brid...	OMIM:269500
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Brainstem dysplasi...	OMIM:213300
Pallister-Hall Syndrome	Gonadotropin deficiency, Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial ...	ORPHA:672
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Narrow nose, Microcephaly, Underdeveloped nasal alae, Basa...	OMIM:164200
Focal Dermal Hypoplasia	Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptoda...	ORPHA:2092
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Anophthalmia, Absent septum pellucidum, Abnormal dental enamel morphology, Microcephal...	ORPHA:2556
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Prominent nasal bridge, M...	OMIM:223370
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Anteverted nares, Microcephaly, Metatarsus adductus, Micrognathia, Metaphyseal wi...	OMIM:182212
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Proxi...	OMIM:304050
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Short nose, Abnormal epiphysi...	ORPHA:90653
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ...	OMIM:309800
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno...	ORPHA:468631
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Split ...	ORPHA:958
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Dental malocclusi...	OMIM:616894
Marshall-Smith Syndrome	Distal widening of metacarpals, Coxa vara, Choanal stenosis, Death in childhood, Clinodactyly of ...	OMIM:602535
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly, Wide nasal ridge, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Depressed nasal bridge, Micrognathia, Polydactyly, Short nose	ORPHA:314655
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Meier-Gorlin Syndrome 5	Microcephaly, Elbow dislocation, Micrognathia, Irregular femoral epiphysis, Patellar aplasia, Hyp...	OMIM:613805
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Malar flattening, Micrognathia, Hypoplasia of the maxilla,...	OMIM:164210
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Short neck, Microcephaly, Supernumerary tooth, Abnor...	ORPHA:314621
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic...	OMIM:272950
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Microcephal...	ORPHA:2311
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl...	OMIM:600987
Hamamy Syndrome	Long toe, Syndactyly, Anteverted nares, Down-sloping shoulders, Tapered finger, Micrognathia, Lon...	OMIM:611174
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Depressed nasal bridge, Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Promin...	OMIM:300968
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Microcephaly, Short neck, Postaxial han...	ORPHA:434179
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, ...	OMIM:616430
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Porencephalic cyst, Abse...	ORPHA:974
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Short hallux, Coxa valga, Short neck, ...	ORPHA:1517
Methylcobalamin Deficiency Type Cble	Syndactyly, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the brainstem,...	ORPHA:2169
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long fingers, ...	OMIM:608149
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Micrognathia, Adactyly, Split hand, Aplasia/H...	ORPHA:989
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Micrognathia, Hypoplasia of the maxill...	ORPHA:37553
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Narrow nasal tip, M...	ORPHA:464306
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse palmar crea...	ORPHA:1507
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Single transverse palmar crease, Short neck, Microgna...	ORPHA:96334
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Broad palm, Cl...	OMIM:618505
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Microcephaly, Hypopl...	OMIM:616975
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Biparietal narrowing, Aplasia/Hypoplasia o...	ORPHA:818
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Decreased response to growth hormone stimulation test, Prominent nasal bridge, Tap...	ORPHA:268261
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Microcephaly, Wide anterior fontanel, Wide nasal br...	OMIM:614886
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, Short p...	OMIM:224690
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lo...	OMIM:616462
Kbg Syndrome	Syndactyly, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Microcepha...	OMIM:148050
Neurocardiofaciodigital Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatation, Polydactyly...	OMIM:619869
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclusion, Slende...	OMIM:612731
7Q31 Microdeletion Syndrome	Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the olfac...	ORPHA:251061
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Depressed nasal...	ORPHA:794
Tarp Syndrome	Finger syndactyly, Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxi...	ORPHA:2886
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation	ORPHA:404451
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tapered finger, ...	OMIM:615873
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Umbilical hernia, Polydactyly, Macrocephaly	ORPHA:93400
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Overlapping toe, Decreased response to growth...	OMIM:213980
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 fi...	ORPHA:158687
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Polydactyly, Advanced...	ORPHA:769
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia	ORPHA:2526
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious...	OMIM:129400
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Metatarsus adductus...	OMIM:227330
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Cerebellar hypoplasia, Iris coloboma, Convex nasal ridge	ORPHA:207
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia, Broad nasal tip	OMIM:248450
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Spli...	ORPHA:2008
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Microcephaly, Hypoplasia of the m...	OMIM:231070
Marshall Syndrome	Cerebral calcification, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the...	ORPHA:560
Orofaciodigital Syndrome V	Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Optic disc coloboma,...	OMIM:174300
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Preaxial polydactyly, Coxa vara, Cutaneous finger sy...	OMIM:614976
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Jacobsen Syndrome	Short neck, Webbed neck, Pachygyria, Agenesis of corpus callosum, Iris coloboma, Broad columella,...	ORPHA:2308
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Talipes equinovarus, Epiphyseal stippling	OMIM:118650
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Robinow Syndrome	Syndactyly, Brachydactyly, Anteverted nares, Depressed nasal bridge, Bifid distal phalanx of the ...	ORPHA:97360
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Umbilical hernia, Aplasia/Hypoplasia o...	ORPHA:2095
Myhre Syndrome	Mandibular prognathia, Overlapping toe, Prominent nasal bridge, Microcephaly, Short neck, Hypopla...	OMIM:139210
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia	ORPHA:2717
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Postaxial polydactyly, Microcephaly, Micrognathia, Buphthalmos, Col...	OMIM:618460
Au-Kline Syndrome	Thickened nuchal skin fold, Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga,...	OMIM:616580
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia, Carious teeth...	ORPHA:3253
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Choanal at...	ORPHA:2750
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Spina bifida, Short neck, Micrognat...	ORPHA:261318
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Accessory carpal bones, Abnormal epiphysis morphology,...	ORPHA:503
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Microcephaly...	ORPHA:2462
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Depressed nasal bridge, Postaxial polydactyly	OMIM:615824
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Microspherophakia, Broad palm, Br...	OMIM:277600
Aicardi Syndrome	Prominence of the premaxilla, Microcephaly, Partial agenesis of the corpus callosum, Optic disc c...	ORPHA:50
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Sh...	OMIM:263750
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar aplasia, Slender long bone	OMIM:613804
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Microspherophak...	OMIM:608328
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Coloboma, Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Supernum...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Coloboma, Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Supernum...	ORPHA:353277
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Coloboma, Phocomelia, Wrist flexion contracture, Hyper...	OMIM:268300
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia, Depressed nasal bridge, Polymicrogyria	OMIM:614520
Hartsfield Syndrome	Syndactyly, Wide nose, Microcephaly, Gonadotropin deficiency, Ectrodactyly, Agenesis of corpus ca...	OMIM:615465
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Large placenta...	ORPHA:1708
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short neck, Micrognathia,...	OMIM:265000
Ring Chromosome 12 Syndrome	Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Webbed neck...	ORPHA:1439
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o...	OMIM:619562
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand...	ORPHA:2211
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Monosomy 22	Finger syndactyly, Wide nose, Single transverse palmar crease, Microcephaly, Short neck, Clubbing...	ORPHA:96123
Choanal Atresia	Nasal congestion, Chronic sinusitis, Polydactyly	ORPHA:137914
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Depressed nasal bridge, Short neck, Micrognathia, Postaxial hand polydact...	OMIM:613610
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short neck,...	OMIM:261540
Prader-Willi Syndrome	Narrow nasal bridge, Syndactyly, Decreased response to growth hormone stimulation test, Carious t...	OMIM:176270
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:464
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 f...	OMIM:620029
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, Clinodactyly of the 5th finger, Ag...	ORPHA:373
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Elsahy-Waters Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Hypoplasia of the ...	OMIM:211380
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Meier-Gorlin Syndrome 3	Microretrognathia, Prominent nasal bridge, Aplasia/Hypoplasia of the patella, Microcephaly, Micro...	OMIM:613803
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Absent sept...	ORPHA:95494
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Fing...	ORPHA:3107
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Decreased response to growth...	ORPHA:96182
Fontaine Progeroid Syndrome	Mandibular prognathia, Syndactyly, Death in infancy, Cerebellar vermis hypoplasia, Depressed nasa...	OMIM:612289
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose	ORPHA:93945
X Small Rings	Toe syndactyly, Anteverted nares, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb unde...	ORPHA:96201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Ant...	ORPHA:457284
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, 2-3 toe syndactyly, Wide nasal bridge, Palmoplantar keratoderma, Bilat...	OMIM:106260
Bloom Syndrome	Syndactyly, Prominent nose, Microcephaly, Recurrent upper respiratory tract infections, Agenesis ...	OMIM:210900
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal d...	ORPHA:2658
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Microcephaly, Micrognathia, Symphalangism affecting t...	ORPHA:2990
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Micrognathia, Prominent nose, Microcephaly, Bulbous nose, Wide nasal brid...	OMIM:301022
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Prominent nasal bridge, Short neck	ORPHA:110
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Degcags Syndrome	Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Microcephaly, Micrognathia,...	OMIM:619488
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Camptodactyly of finger, Micromelia, Microcephaly, Micrognathia, Pr...	ORPHA:2753
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Split hand, Fibrous syngnathia	ORPHA:1300
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia...	ORPHA:1974
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Choanal stenosis, Malar flattening	OMIM:241310
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Fraser Syndrome 3	Wide nose, Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Convex nasal ridge	OMIM:617667
Doors Syndrome	Abnormal finger morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Spina bifida occ...	ORPHA:79500
Japanese Encephalitis	Abnormal substantia nigra morphology, Stiff neck, Abnormal midbrain morphology, Elbow flexion con...	ORPHA:79139
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Absent septum pellucidum, Micrognathia, Dysplastic corpus ...	OMIM:618820
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
3Mc Syndrome 2	Torticollis, Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Hip di...	OMIM:265050
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Decreased response to growth ...	ORPHA:1896
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Broad nasal tip, Asymmetry of the nares, Unilateral brachydactyly, Low pos...	ORPHA:1521
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Wide nasal bridge, Umbilical hern...	OMIM:104350
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Timothy Syndrome	Depressed nasal bridge, Cutaneous syndactyly	OMIM:601005
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Bulbous nose, 2-3 toe syndactyly, Webbed...	OMIM:620025
Culler-Jones Syndrome	Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly	OMIM:615849
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Hypoplasia of the brain...	ORPHA:480880
Distal Deletion 19P	Long toe, Umbilical hernia, Hypoplasia of the maxilla, Arachnodactyly	ORPHA:96129
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Wi...	ORPHA:1071
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Microcephaly, Elbow dislocation, Micrognathia, Hypopl...	ORPHA:2554
Craniosynostosis And Dental Anomalies	Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Wide nose, Broad hallux, Depress...	OMIM:614188
Amoebiasis Due To Free-Living Amoebae	Stiff neck, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Sinusitis, Abnor...	ORPHA:68
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a...	ORPHA:17
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Brachydactyly	OMIM:616028
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Anteverted nares, Depressed nasal bridge, 3-4 finger cu...	OMIM:181270
Okamoto Syndrome	Redundant neck skin, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormally large glo...	ORPHA:2729
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Abnor...	ORPHA:2588
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu...	OMIM:149730
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	ORPHA:782
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Advanced eruption of tee...	ORPHA:1519
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Preaxial polydactyly	ORPHA:163681
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini...	ORPHA:3044
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal gangli...	ORPHA:261537
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Ag...	OMIM:312870
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Su...	ORPHA:2136
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Redund...	OMIM:216340
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Secondary microcephaly, Cerebral cortical atrophy	OMIM:105830
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Umbilical hernia, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:601499
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop...	ORPHA:887
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Toe syndactyly, Decreased response to growth hormone stimulation...	OMIM:129900
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Depressed nasal bridge, Short neck, Uppe...	ORPHA:1299
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve...	OMIM:620330
Floating-Harbor Syndrome	Narrow nasal bridge, Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular nec...	ORPHA:2044
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, A...	ORPHA:828
Proteus Syndrome	Hallux valgus, Finger syndactyly, Anteverted nares, Macrodactyly, Abnormal dental enamel morpholo...	ORPHA:744
Cowden Syndrome 5	Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615108
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Microcephaly,...	OMIM:614437
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal gangli...	ORPHA:261552
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar c...	OMIM:150230
Cowden Syndrome 6	Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplantar hyperkeratosis, Micrognathia	OMIM:615109
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Choanal atresia,...	OMIM:107480
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Overlapping toe, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Zttk Syndrome	Relative macrocephaly, Depressed nasal bridge, Hypoplasia of the maxilla, Dysplastic corpus callo...	OMIM:617140
Coffin-Siris Syndrome 12	Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Microcephaly, Underdeveloped na...	OMIM:619325
Adult Syndrome	Finger syndactyly, Toe syndactyly, Prominent nasal bridge, Wide nasal bridge, Split foot	ORPHA:978
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Retrognathi...	OMIM:610168
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegalencephaly, Palmoplant...	OMIM:158350
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal gangli...	ORPHA:2152
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, C...	OMIM:617088
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Decreased response to growth hormone stimulation...	OMIM:604292
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Short neck, Cutaneous syndactyly, Microphthalmia	OMIM:617666
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi...	OMIM:192350
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Palmoplantar hyperkeratosis, Abnormal hip bo...	ORPHA:2907
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the upper limb, Short lower limbs	ORPHA:1556
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Anteverted nares, Anterior pituitary hypoplasia, Postaxial polydactyly, Depressed nas...	OMIM:619534
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Mala...	ORPHA:69085
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Periventricular leukomalacia, Arachnodactyly, Optic nerve hypoplasia, Depr...	ORPHA:500150
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Ab...	ORPHA:206448
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deviated nasal septum	OMIM:123500
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Macrocephaly	ORPHA:137605
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Depressed nasal bridge, ...	ORPHA:293987
Dyskeratosis Congenita	Cerebral calcification, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma, Tauro...	ORPHA:1775
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Midline defect of the nose, Genu varum	ORPHA:1969
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Pal...	ORPHA:2908
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis, Anteverted nares	ORPHA:238468
Primrose Syndrome	Hip contracture, Cerebral calcification, Anteverted nares, Depressed nasal bridge, Broad nasal ti...	OMIM:259050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Decreased response to growth hormone stimulation test, Hypoplasia of the maxilla,...	OMIM:180500
Arnold-Chiari Malformation Type I	Areflexia of upper limbs, Myelopathy, Stiff neck, Brain stem compression	ORPHA:268882
Idiopathic Juvenile Osteoporosis		ORPHA:85193

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dkk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dkk1.

No publications found that use IMPC mice or data for Dkk1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dkk1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dkk1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Dkk1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Dkk1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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