Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
formin 1
Synonyms:
Fmn,  formin-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 Fmn1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fmn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... ORPHA:3269
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Acrorenal Syndrome
Abnormal renal morphology, Hand oligodactyly OMIM:102520
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion creases, Pes planus, Pr... OMIM:615298
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... ORPHA:3248
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Talonavicular Coalition
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... OMIM:186750
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... ORPHA:1836
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... ORPHA:968
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... OMIM:102510
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Symphalangism, Proximal, 1A
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the toes, Proximal symphalangism... OMIM:185800
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Digitotalar Dysmorphism
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger OMIM:126050
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Hallux varus, Broad metatarsal, Short metatar... OMIM:123150
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Vertical Talus, Congenital
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot OMIM:192950
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankles, Tarsal synostosis ORPHA:1412
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... ORPHA:93351
Congenital Vertical Talus
Equinus calcaneus, Abnormality of the foot musculature, Pes planus, Pes valgus, Rocker bottom foo... ORPHA:178382
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... OMIM:615170
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... OMIM:147891
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphol... ORPHA:971
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar sy... ORPHA:3266
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro... OMIM:271650
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... ORPHA:1972
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Oligodactyly, Craniosynostosis OMIM:614416
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis OMIM:309630
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Multiple Synostoses Syndrome 4
Overlapping toe, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot OMIM:617898
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... ORPHA:83468
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... OMIM:113450
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... OMIM:120400
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis ORPHA:2064
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis ORPHA:2010
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Humero-Radial Synostosis
Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Li... ORPHA:3265
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Bowen-Conradi Syndrome
Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot OMIM:211180
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... ORPHA:1471
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Renal agenesis, Abnormal hip bone morphology, Syndactyly, Polydactyly, Sti... ORPHA:294975
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... OMIM:227270
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... ORPHA:1350
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Fused cervical vertebrae, Tar... OMIM:618469
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Metaphyseal Dysplasia, Spahr Type
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... OMIM:250400
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... ORPHA:1837
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Talipes equinovarus, Joint contracture of the hand, Camptodactyly OMIM:614335
Sheldon-Hall Syndrome
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Overlapping fingers, Bilateral sin... ORPHA:1147
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Dermatoosteolysis, Kirghizian Type
Abnormality of the hand, Osteoarthritis, Brachydactyly, Abnormality of the wrist, Osteolysis, Abn... ORPHA:1657
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormality of the elbow, Delayed skeletal... ORPHA:3268
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Joint stiffness, Clinodactyly of the 5th finger, Abnormality of ... ORPHA:2496
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Tarsal Coalition
Tarsal synostosis OMIM:186850
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... OMIM:186500
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Pedal edema, Flattening of the talar dome, Tarsal stippling, Abnormal tarsal os... ORPHA:563991
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism OMIM:241000
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Tarsal synosto... ORPHA:3429
Blount Disease
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 5th finger, Proximal symphalangism of hands, Proximal radio-ulnar synostosis,... ORPHA:363417
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypoplasia of the rad... ORPHA:1307
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... ORPHA:166002
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly ORPHA:238446
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly OMIM:609428
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Verte... OMIM:618845
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Hhhh Syndrome
Hemiatrophy OMIM:306960
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Hypermobility of interphalangeal joints, 2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Radial-Renal Syndrome
Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb OMIM:179280
Arthrogryposis, Distal, Type 1A
Overlapping toe, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Congenital h... OMIM:108120
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Hyporeflexia of lower limbs, Areflexia of lower limbs OMIM:162370
Juberg-Hayward Syndrome
Abnormality of toe, Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Ap... OMIM:216100
Muenke Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges of hand, Coro... OMIM:602849
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Knee dislocation, Distal tapering femur, Absent radius, Shor... ORPHA:56305
Muenke Syndrome
Carpal synostosis, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot, Tarsal synostosis... ORPHA:53271
Mueller-Weiss Syndrome
Talipes calcaneovarus, Edema of the dorsum of feet, Limitation of movement at ankles, Fragmented,... ORPHA:566943
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Tetrasomy X
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... ORPHA:9
Waardenburg Syndrome, Type 3
Carpal synostosis, Joint contracture of the hand, Camptodactyly of finger, Brachydactyly, Clinoda... OMIM:148820
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism OMIM:615983
Arthrogryposis, Distal, Type 2B1
Talipes equinovarus, Micrognathia, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar d... OMIM:601680
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... ORPHA:896
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Postaxial hand polydactyly, Sh... OMIM:263540
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... OMIM:201170
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Humeroradial synostosis, Tarsal synostosis OMIM:236410
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metacarpal, Upper limb undergrowth, Arthralgia of the hip,... ORPHA:93307
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... OMIM:105835
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Epiphyseal dysplasia, Delayed epiphyseal ossification, Generalized joint laxity,... OMIM:132400
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Renal agenesis, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal... OMIM:212780
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypop... ORPHA:163966
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Cardiospondylocarpofacial Syndrome
Short palm, Brachydactyly, Synostosis of carpal bones ORPHA:3238
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Hip dysplasia, Brachyd... OMIM:226900
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hy... OMIM:228940
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Partial fusion of tarsals,... OMIM:305620
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Prenatal Bowing
Bowing of the long bones OMIM:264050
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Brachydactyly Type E
Short distal phalanx of finger, Joint hyperflexibility, Upper limb asymmetry, Type E brachydactyl... ORPHA:93387
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis OMIM:109050
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Short 1st metacarpal, Synostosis ... ORPHA:2438
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... ORPHA:710
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... OMIM:171480
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contracture OMIM:259780
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... ORPHA:1106
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Pes planu... ORPHA:521308
Winchester Syndrome
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized... OMIM:277950
Gordon Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Talipes, Limitation of joint mobility, F... ORPHA:376
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostosis of carp... ORPHA:3121
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Ivic Syndrome
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... ORPHA:2307
Otofacioosseous-Gonadal Syndrome
Carpal synostosis, Talipes equinovarus, Short hallux, Wormian bones, Genu valgum, Delayed skeleta... OMIM:601976
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Abnormality of the hand, Short tibia,... OMIM:251230
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Camptodactyly, Elbow fle... OMIM:178110
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... OMIM:602418
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Joint stiffness, Abnormal hip bone morphology, Camptodactyly of finger, Synostosis of carpal bone... ORPHA:1323
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Decreased fertility, Abnormal morphology of ulna, Hypogonadism ORPHA:2233
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... OMIM:614814
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Renal agenesis OMIM:236110
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Sclerosteosis
Increased bone mineral density, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges... ORPHA:3152
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... ORPHA:166024
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Talipes equinovarus, Microretrognathia,... ORPHA:1788
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Cone-shaped epiphysis, Genu valgum, Pr... ORPHA:457395
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Short thumb, Shor... OMIM:614326
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, A... OMIM:215045
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... ORPHA:79445
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Split hand, Short humerus, Micromelia, Posta... ORPHA:2491
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... OMIM:274000
Bowen-Conradi Syndrome
Micrognathia, Camptodactyly of finger, Clinodactyly of the 5th finger, Rocker bottom foot ORPHA:1270
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Abnormal shoulder morphology, Brachydactyly, Micrognathia ORPHA:1277
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Dysspondyloenchondromatosis
Enlarged joints, Joint dislocation, Generalized joint laxity, Osteoarthritis, Abnormal ulnar meta... ORPHA:85198
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Micromelia, Hypoplasia of the capital femora... ORPHA:85166
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... ORPHA:2502
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor... OMIM:600969
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis OMIM:601355
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst, Hypogonadism OMIM:615982
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Talipes equinovarus, Rocker bottom foot OMIM:616570
Laron Syndrome
Delayed menarche, Abnormal joint morphology, Short long bone, Limb undergrowth OMIM:262500
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Finger joint hypermobility,... OMIM:244200
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly ORPHA:391646
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, Abnormal metacarpal morphology,... ORPHA:2631
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Brachydactyly, Short metacarpal OMIM:113400
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, 11 pairs of ribs, Rhizomelia, Renal hypoplasia... OMIM:617661
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, Short phalanx of finger, Short metacarpal OMIM:618724
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Ulnar deviation of the hand ... OMIM:600383
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Single t... OMIM:206920
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Brachymetatarsus Iv
Short 4th toe, Short fourth metatarsal OMIM:113475
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Unil... OMIM:618142
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Calcaneovalgus deformity, Pes planus, Genu recurvatum OMIM:225320
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cox... OMIM:272460
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus OMIM:614257
Hypochondroplasia
Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly, Genu varum, Micromelia... ORPHA:429
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia, Limb undergrowth OMIM:269870
Summitt Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finge... ORPHA:3210
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, 11 pa... OMIM:300863
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, Micromelia, Ulnar... ORPHA:2249
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vertebral segmenta... ORPHA:90652
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand p... ORPHA:1278
Acrootoocular Syndrome
Short toe, Decreased palmar creases, Abnormal finger flexion creases, Palmar hyperkeratosis, Smal... ORPHA:2980
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Jeune Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Brachydactyly, Nephropathy, Postaxial hand p... ORPHA:474
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Short... ORPHA:1005
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... OMIM:127200
Brachydactyly, Type E2
Short metatarsal, Brachydactyly, Short metacarpal OMIM:613382
Brachydactyly, Type B1
Joint contracture of the hand, Delayed cranial suture closure, Syndactyly, Aplasia/Hypoplasia of ... OMIM:113000
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Hydronephrosis, Hypogonadism ORPHA:85173
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Limited elbow extension, Limb undergrowth ORPHA:156728
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phal... ORPHA:2256
Acrorenal Syndrome, Autosomal Recessive
Split hand, Split foot, Renal hypoplasia, Clinodactyly, Renal insufficiency, Decreased numbers of... OMIM:201310
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalan... ORPHA:380
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal metatarsal morphology, Limited mobility of proxim... ORPHA:85438
Arthrogryposis, Distal, Type 5D
Talipes equinovarus, Adducted thumb, Micrognathia, Camptodactyly, Elbow flexion contracture, Calc... OMIM:615065
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Acrocephalopolydactyly
Genu recurvatum, Brachydactyly, Abnormal renal morphology, Limb undergrowth, Short long bone ORPHA:221054
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... OMIM:184260
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Pes cavus, Toe syndactyly ORPHA:217377
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Crisponi/Cold-Induced Sweating Syndrome 2
2-3 toe syndactyly, Limited elbow extension, Cubitus valgus, Clinodactyly, Abnormal foot morpholo... OMIM:610313
Sclerosteosis 2
Cutaneous finger syndactyly, Short finger OMIM:614305
Tibial Hemimelia
Absent tibia OMIM:275220
X-Linked Intellectual Disability, Hedera Type
Hyporeflexia of lower limbs, Pes planus, Calcaneovalgus deformity, Hyporeflexia of upper limbs, A... ORPHA:93952
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Seckel Syndrome 7
Primary amenorrhea, Madelung deformity, Clinodactyly, Hip dysplasia, Abnormal carpal morphology OMIM:614851
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology ORPHA:177910
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral renal agenesi... ORPHA:3306
Roberts Syndrome
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... ORPHA:3103
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Exostoses, Multiple, Type Ii
Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... OMIM:133700
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, Abnormality of the calcaneus, Aplasia/hypoplasia... ORPHA:40366
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
Cutis Laxa, Autosomal Dominant 3
Talipes equinovarus, Adducted thumb, Unilateral renal agenesis, Delayed cranial suture closure, W... OMIM:616603
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Bipartite calcaneus, Radial deviation of the... OMIM:608545
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Three M Syndrome 3
Clinodactyly of the 5th finger, Hip dysplasia, Slender long bone, Prominent calcaneus OMIM:614205
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Short metatarsal, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Genu valgum, Cubitus valgus, Short foot, Madelung deformity, ... ORPHA:314795
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... OMIM:181510
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Atelosteogenesis, Type Ii
Talipes equinovarus, Bifid humerus, Micrognathia, Micromelia, Limb undergrowth, Short middle phal... OMIM:256050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Radial head sublu... OMIM:271640
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... OMIM:276820
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Thoracomelic Dysplasia
Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow dislocation, A... ORPHA:1803
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Talipes equinovarus, Adducted thumb, Micrognathia, 11 pairs of ribs, Camptodactyly, Elbow flexion... OMIM:616266
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal phalanges of the fin... OMIM:616809
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Epiphyseal dysplasia, Fragmented epiphyses, Metaphyseal irregularity, Flat capital femoral epiphy... ORPHA:93360
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Flared elbow metaphyses, Short long bone ORPHA:1423
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Irregula... ORPHA:950
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Interphalangeal joint contra... OMIM:151200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... OMIM:266910
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly, Renal agenesis ORPHA:2155
Oslam Syndrome
Radial deviation of finger, Clinodactyly, Radioulnar synostosis OMIM:165660
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Aplasia Cutis Congenita
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly ORPHA:1114
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Carpenter Syndrome
Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand pol... ORPHA:65759
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pes cavus, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proxi... OMIM:613458
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... ORPHA:2251
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Micrognathia, Bilate... OMIM:166300
Charlie M Syndrome
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly ORPHA:1406
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth OMIM:601016
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Micromelia ORPHA:168555
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Nager Syndrome
Hypoplasia of the radius, Unilateral renal agenesis, Micrognathia, Aplasia/Hypoplasia of the radi... ORPHA:245
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Nephropathy, Hematuria, Aplasia/Hypoplasia of the radius, Madelung def... ORPHA:1765
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Weaver Syndrome
Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, Flared humera... OMIM:277590
Ectrodactyly-Polydactyly
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Pallister-Hall Syndrome
Y-shaped metacarpals, Radial head subluxation, Distal shortening of limbs, Distal urethral duplic... OMIM:146510
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Tombstone-shaped proximal ph... OMIM:108721
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Prominent metopic ... OMIM:616362