Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dkk1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Arnold-Chiari Malformation Type I
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 Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 28, Primary, Autosomal Recessive
Microcephaly OMIM:619453
Cri du Chat Syndrome (5p deletion)
Microcephaly DECIPHER:2
Intellectual Developmental Disorder, Autosomal Recessive 51
Microcephaly OMIM:616739
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
Microcephaly DECIPHER:62
Intellectual Developmental Disorder, Autosomal Recessive 28
Microcephaly OMIM:614347
Intellectual Developmental Disorder, Autosomal Recessive 7
Microcephaly OMIM:611093
Microcephaly 18, Primary, Autosomal Dominant
Microcephaly OMIM:617520
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
Microcephaly DECIPHER:92
Teratocarcinoma-Derived growth factor 1
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