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Gene: Evx2 MGI:95462

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

even-skipped homeobox 2

Synonyms:

Evx-2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Evx2 mutations

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

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

Human diseases associated with Evx2 (0 diseases)
Human diseases predicted to be associated with Evx2 (1236 diseases)

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

The table below shows human diseases predicted to be associated to Evx2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Dystelephalangy	Curved distal phalanx of the 5th finger	OMIM:128000
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Broad Terminal Phalanges, Familial	Broad distal phalanx of the toes, Broad distal phalanx of finger	OMIM:602071
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Mental Retardation Syndrome, Mietens-Weber Type	Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi...	OMIM:249600
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Decreased body weight, Broad phalanx, Short phalanx of finger...	OMIM:618724
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
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
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Cleidorhizomelic Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger	OMIM:119650
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific...	OMIM:600969
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Pseudoachondroplasia	Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela...	OMIM:132400
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Cubitus valgus, Short metacarpal, Infertility	ORPHA:261524
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Acromicric Dysplasia	Short metacarpal, Short foot, Cone-shaped epiphysis, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr...	ORPHA:370010
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab...	OMIM:617974
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal, Cryptorchidism	ORPHA:2489
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha...	OMIM:180870
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Acromegaloid Facial Appearance Syndrome	Tapered finger, Large for gestational age, Micrognathia, Large hands, Short 5th metacarpal	OMIM:102150
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca...	OMIM:618395
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Pseudoachondroplasia	Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente...	OMIM:177170
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
2q37 monosomy	Brachydactyly	DECIPHER:44
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub...	ORPHA:2804
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Hypoplas...	OMIM:615222
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G...	ORPHA:3210
Acromicric Dysplasia	Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal...	ORPHA:969
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,...	ORPHA:3035
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Metachondromatosis	Abnormal joint morphology, Bowing of the long bones	OMIM:156250
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Mietens Syndrome	Hypoplasia of the ulna, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular necrosis of...	ORPHA:2557
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Cone-shaped e...	OMIM:184260
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal...	ORPHA:79445
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Delayed ossification of carpal bones, Short femoral neck, Decreased bo...	OMIM:618392
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed menarche	OMIM:262500
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,...	OMIM:618019
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Obesity, Azoospermia, Cubitus valgus, Short 4th metacarpal	ORPHA:2183
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification of carpal bones, Obesit...	OMIM:614613
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Brachydactyly	OMIM:603233
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol...	ORPHA:2631
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Micrognathia	ORPHA:357175
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with narrow diaphys...	OMIM:608154
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio...	OMIM:600920
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl...	ORPHA:2619
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Micrognathia	OMIM:615162
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow...	OMIM:207410
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala...	ORPHA:2741
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly o...	OMIM:614851
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th metacarpal	OMIM:619638
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology,...	ORPHA:63442
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs	ORPHA:156728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Small for gestational age, Abnormal metatarsal morphology, Flat capital fem...	ORPHA:93360
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Amenorrhea, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Obesity, Brachydactyly	OMIM:612463
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost...	OMIM:615314
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia...	OMIM:156500
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis, Thenar...	OMIM:612350
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, A...	ORPHA:99330
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e...	ORPHA:263463
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Obesity, Hip dysplasia, Limb ...	ORPHA:319675
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Cryptorchidism, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Short to...	OMIM:611717
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Hypoplastic scapulae, Iliac crest serra...	OMIM:607326
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ...	OMIM:184252
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea...	OMIM:615777
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac...	OMIM:271640
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Split hand, Abnormal pelv...	OMIM:157900
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert...	OMIM:268310
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
Microcephaly-Albinism-Digital Anomalies Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia	ORPHA:2513
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti...	OMIM:605274
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad hallux, Micrognathia, Cryptorchidism, Short toe, Short metatarsal, Upper ...	ORPHA:439822
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h...	ORPHA:2496
Aase-Smith Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone...	ORPHA:916
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Epiphyseal dyspla...	OMIM:226980
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyda...	OMIM:211750
Marinesco-Sjogren Syndrome	Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Short metatarsal, Cubitus valgus, F...	OMIM:248800
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Image Syndrome	Metaphyseal dysplasia, Hypogonadism, Micromelia, Cryptorchidism	ORPHA:85173
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Intellectual Developmental Disorder, X-Linked 9	Short distal phalanx of finger	OMIM:309549
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B...	ORPHA:96097
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Obesity, Short phalanx of finger, Type E br...	OMIM:600430
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis...	OMIM:215150
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes ...	OMIM:612626
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca...	ORPHA:93329
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Coxa vara, Arthritis, Congenital finger flexion contract...	OMIM:208250
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon...	OMIM:610915
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Abnormal fibula morphology, Genu valgum, Meta...	ORPHA:85198
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestational age, Short...	OMIM:614813
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo...	OMIM:184250
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal...	OMIM:602849
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Flat acetabular roof, Large han...	ORPHA:1801
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Failure to thrive, Short 4th metacarpa...	OMIM:169400
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Slender long bone, Metacarpal os...	ORPHA:2774
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl...	OMIM:263750
Spermatogenic Failure 17	Male infertility	OMIM:617214
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab...	ORPHA:3429
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all...	OMIM:616809
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em...	OMIM:613390
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Obesity, Hypogonadism, Short finger, Brachydactyly	OMIM:103580
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand	ORPHA:177910
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Steel Syndrome	Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:615155
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Osteogenesis Imperfecta, Type Xix	Bowing of the arm, Rhizomelia, Bowing of the legs	OMIM:301014
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Osteoglophonic Dysplasia	Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, Broad metacarpals, Short ...	OMIM:166250
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnorm...	ORPHA:1842
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Cohen Syndrome	Short metacarpal, Small for gestational age, Single transverse palmar crease, Tapered finger, Mic...	OMIM:216550
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati...	OMIM:218600
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t...	OMIM:166300
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum	ORPHA:2611
Achondroplasia	Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Abnorm...	ORPHA:15
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Single transverse palmar cr...	OMIM:114300
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly	ORPHA:921
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb...	ORPHA:628
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ...	OMIM:106995
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b...	ORPHA:503
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa...	OMIM:620099
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ...	ORPHA:1597
Temtamy Syndrome	Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1777
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal...	OMIM:618658
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Coxa valga, Micrognathia, Advanced ossification of carpal bon...	OMIM:618363
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen...	OMIM:244600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Cryptorchidism, Neonatal epiphyseal s...	OMIM:101800
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles, Joint dislocation	OMIM:606220
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Abnormal diaphysis morphology, Abnorm...	ORPHA:1657
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Martsolf Syndrome 1	Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Metatarsus adductus, Slender ulna,...	OMIM:212720
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,...	ORPHA:93328
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Obesity, Hypogonadism, Brachydactyly	OMIM:612462
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl...	OMIM:600002
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Arthritis, Short metacarpal, Short metatarsal	OMIM:613328
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Progressive Osseous Heteroplasia	Osteoarthritis, Brachydactyly	ORPHA:2762
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of...	ORPHA:444002
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Osteogenesis Imperfecta, Type Xxi	Coxa valga, Bowing of the legs, Coxa vara, Wormian bones, Bowing of the arm	OMIM:619131
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Square pelvis bone, Shor...	ORPHA:166272
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Abnormal diaphysis morphology,...	ORPHA:3409
Potocki-Shaffer Syndrome	Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep...	ORPHA:1458
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Anauxetic Dysplasia 1	Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra...	OMIM:607095
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of proximal inter...	OMIM:190350
Andersen Cardiodysrhythmic Periodic Paralysis	Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S...	OMIM:170390
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl...	OMIM:226960
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella	ORPHA:1149
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Micrognathia, Bowing of the legs, Wormian bones, Bowing ...	OMIM:613849
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Say Syndrome	Tapered finger, Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Micrognathia	OMIM:181180
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Gnathodiaphyseal Dysplasia	Bowing of the long bones, Diaphyseal cortical sclerosis	OMIM:166260
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ...	ORPHA:1001
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Hypop...	ORPHA:168549
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum	ORPHA:1035
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan...	OMIM:224400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa vara, Narrow gre...	OMIM:602557
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod...	OMIM:300590
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger	OMIM:155050
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th...	OMIM:619451
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor...	ORPHA:2635
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Single transverse palmar crease, Adducted thumb	OMIM:620062
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Microgna...	ORPHA:1225
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger	ORPHA:86822
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Single transverse pal...	OMIM:123450
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal...	ORPHA:3051
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m...	ORPHA:50945
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Codas Syndrome	Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, Proximal plac...	OMIM:600373
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa...	OMIM:272460
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Micrognathia, Metaphyse...	OMIM:250410
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of...	ORPHA:1147
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ...	OMIM:300845
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Wiedemann-Steiner Syndrome	Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Sho...	OMIM:605130
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Metopic synostosis, Hypoplasia of the ulna, Ankle clonus, Lambdoidal craniosynostosis	OMIM:615398
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodysplasia, Cr...	ORPHA:166035
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Flared metaphysis, Hypoplastic pubic bone, Short long bone, Small epiphyses, Delaye...	ORPHA:93346
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral ...	ORPHA:453510
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly	ORPHA:2145
Alagille Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger	ORPHA:52
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ...	ORPHA:3265
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral crypto...	OMIM:206920
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb	ORPHA:1794
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Limited elbow movement, Micrognathia, Craniosynostosis, Hypoplasia of the odont...	ORPHA:508533
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab...	ORPHA:3130
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger	ORPHA:2776
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Larsen Syndrome	Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Cryptorchidism, Accessor...	OMIM:150250
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co...	OMIM:259600
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum	ORPHA:1295
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head	ORPHA:401935
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Failure to thriv...	ORPHA:2107
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi...	OMIM:136760
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Scapular winging, Single transverse palmar crease, Micromel...	OMIM:618870
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Refsum Disease	Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Wormian bones, Tibial bowing, A...	OMIM:166210
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short 4th metacarpal, Small hand, Micrognathia	ORPHA:1787
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the radius, Aplasia/Hypoplasia of th...	ORPHA:245
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Premature ovarian insufficiency, Small for gestational age, Metaphyseal scleros...	ORPHA:221008
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Short metatarsal, Obesi...	ORPHA:79444
Laron Syndrome	Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydactyly	ORPHA:633
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short foot, Wormian bones, Upper limb undergrowth, Toe clinodactyly	ORPHA:166277
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Wide distal femoral metaphysis, Del...	OMIM:613320
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Kn...	OMIM:601559
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Broad long bon...	OMIM:614376
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Small for gestational age, Aplasia/hypoplasia involving bone...	ORPHA:221016
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist...	OMIM:620073
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Pre...	ORPHA:93352
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ...	OMIM:241800
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Small for gestational...	OMIM:616229
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Cryptorchidism,...	ORPHA:1865
Qazi-Markouizos Syndrome	Cryptorchidism, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger	OMIM:309620
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Erythrokeratodermia Variabilis	Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Single transverse ...	OMIM:210600
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the...	ORPHA:2909
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F...	OMIM:252100
Rudiger Syndrome	Short digit, High axial triradius, Single transverse palmar crease	OMIM:268650
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Br...	OMIM:275900
Coffin-Lowry Syndrome	Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,...	ORPHA:192
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Short 5th metacarpal	OMIM:617877
Fetal Encasement Syndrome	Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, F...	OMIM:300232
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu...	OMIM:255800
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to...	ORPHA:1327
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery...	OMIM:619339
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte...	ORPHA:163654
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Hypogonadism, Short distal phalanx of finger	OMIM:302950
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb	OMIM:613951
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda...	OMIM:618659
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Omodysplasia 2	Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ...	OMIM:164745
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Advanced oss...	OMIM:615349
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Cryptorchidism, Camptodactyly, Absent palmar crease	OMIM:614230
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,...	OMIM:616145
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact...	OMIM:615547
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, ...	OMIM:614592
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger	ORPHA:1914
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Small for gestational age, Wormian bones, Decreased fibular diamet...	OMIM:616897
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U...	OMIM:604757
Holzgreve Syndrome	Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2167
Muenke Syndrome	Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Achondrogenesis Type 1A	Short palm, Short foot, Micromelia, Micrognathia	ORPHA:93299
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Broad 1st metacarpal, S...	ORPHA:79443
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease	OMIM:617190
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th f...	OMIM:619269
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Lujan-Fryns Syndrome	Micrognathia, Arachnodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:776
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal...	OMIM:236500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Histidinuria Due To A Renal Tubular Defect	Short middle phalanx of finger, Rounded middle phalanx of finger	OMIM:235830
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Brachydactyly	ORPHA:3085
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ge...	OMIM:620072
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi...	ORPHA:672
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor...	ORPHA:2655
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Craniosynostosis, Brachydactyly	OMIM:618265
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Bilateral single transverse palmar creases, Avascular necrosis of the capital ...	ORPHA:502
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Histidinuria-Renal Tubular Defect Syndrome	Short middle phalanx of finger, Rounded middle phalanx of finger	ORPHA:2158
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis...	OMIM:146510
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Hypoplastic iliac wing, 4-5 t...	OMIM:260660
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ...	ORPHA:896
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Micrognat...	ORPHA:221120
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Ulnar deviation of the hand, Congenital hip dislocation, Crypt...	OMIM:617137
Osteoglosphonic Dysplasia	Micrognathia, Rhizomelia, Craniosynostosis, Brachydactyly	ORPHA:2645
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Jansen-De Vries Syndrome	Short foot, Small hand, Brachydactyly	OMIM:617450
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Short foot, Short palm, Clinodac...	ORPHA:264200
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Adducted thumb, Failure to thrive, Bilateral single transverse palm...	ORPHA:50810
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi...	OMIM:224410
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bo...	OMIM:608612
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micromelia, Micrognathia	ORPHA:93298
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat...	ORPHA:84
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Recurrent mandibular subluxa...	OMIM:225410
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Coffin-Siris Syndrome 6	Wormian bones, Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th...	OMIM:618914
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ...	ORPHA:3041
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Developmental And Epileptic Encephalopathy 95	Short digit, Short fourth metatarsal, Single transverse palmar crease, Cryptorchidism, Clinodacty...	OMIM:618143
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Weill-Marchesani Syndrome 2	Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph...	OMIM:608328
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Brachydactyly	ORPHA:2701
Achondrogenesis, Type Ib	Hypoplastic ilia, Short ribs, Micromelia	OMIM:600972
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal	OMIM:609053
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Van Maldergem Syndrome 1	Short fourth metatarsal, Wide cranial sutures, Micrognathia, Radial head subluxation, Cutaneous f...	OMIM:601390
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	OMIM:616354
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma...	ORPHA:1798
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutures, Micrognathia, Cryptor...	OMIM:615546
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus...	OMIM:607143
Temtamy Syndrome	Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly	OMIM:218340
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna...	OMIM:268300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly	ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Small hand, Short foot, Brachydactyly	OMIM:300354
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:1770
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r...	ORPHA:2021
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly	OMIM:618381
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Cryptorchidism, Foot acroosteolysis, Osteolytic defects of ...	OMIM:102500
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Short ribs, Widely patent fontanelles and sutur...	OMIM:241500
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Micromelia	ORPHA:2772
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Large hands, Abnormal metacarpal mor...	ORPHA:3219
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Prominent metopic ridge, Rhizomelia, Craniosynostosis, Micrognathia, Phalangeal cone-shaped epiph...	OMIM:266920
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cryptorchidism, Mesomelia, Clinodactyly, Short phalanx of finger, Broad...	OMIM:616894
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Metopic depression, Short clavicles, Steep ...	ORPHA:313855
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Pa...	ORPHA:2916
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Ost...	OMIM:265800
Tonne-Kalscheuer Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:300978
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Hypoplasia ...	OMIM:305400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Small hand, Clin...	ORPHA:94065
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:1563
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Humeroradial synostosis, Hypoplasi...	ORPHA:3404
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t...	ORPHA:79322
Gorlin Syndrome	Palmar pits, Vertebral fusion, Arachnodactyly, Brachydactyly	ORPHA:377
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger	OMIM:601355
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodactyly of finger,...	ORPHA:90652
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Coffin-Siris Syndrome 2	Brachydactyly, Sandal gap, Short distal phalanx of finger	OMIM:614607
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic...	OMIM:616331
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Cryptor...	ORPHA:1512
Sponastrime Dysplasia	Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Ivory epiphyses of th...	ORPHA:93357
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation	OMIM:616507
Frank-Ter Haar Syndrome	Bowing of the long bones, Delayed cranial suture closure, Micrognathia, Metatarsus adductus, Flar...	OMIM:249420
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ...	ORPHA:1786
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases	ORPHA:2083
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Brachydactyly	OMIM:602361
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho...	OMIM:269860
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Micromelia	ORPHA:64755
Achondrogenesis	Micromelia, Micrognathia	ORPHA:932
Smith-Magenis Syndrome	Brachydactyly, Broad palm, Abnormal forearm morphology, Short palm	OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi...	ORPHA:1323
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Luscan-Lumish Syndrome	Irregular menstruation, Advanced ossification of carpal bones, Obesity	OMIM:616831
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Congenital hip dislocation, Cryptorchidism, Postaxial hand poly...	OMIM:305600
Microcephaly-Capillary Malformation Syndrome	Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Small for gestational age, Single transverse palmar crease	ORPHA:79243
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi...	ORPHA:435638
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Poly...	OMIM:109400
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid process, Del...	OMIM:616007
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t...	ORPHA:371428
Pycnodysostosis	Persistent open anterior fontanelle, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Overweight...	ORPHA:763
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p...	OMIM:225500
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Abnormal pelvic girdle bone morp...	ORPHA:289
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ...	OMIM:617061
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Prominent m...	OMIM:136140
Fanconi Anemia, Complementation Group F	Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Absent thumb	OMIM:603467
Distal Deletion 10Q	Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar crease, Craniosyn...	ORPHA:96148
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral...	ORPHA:1772
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios...	OMIM:614099
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Brachydactyly	OMIM:619995
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Obesity, Cubitus valgus, Failure to thrive, Short distal phal...	OMIM:617157
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Failure to thrive, Limb undergrowth, Coxa valga	OMIM:230600
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent...	OMIM:227650
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Enlarged joints, Av...	ORPHA:2044
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Short palm, Failure to thrive, Brachydactyly	ORPHA:2176
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly	OMIM:619479
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Hydrolethalus	Cryptorchidism, Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Glutamine Deficiency, Congenital	Micromelia, Camptodactyly	OMIM:610015
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Gm1 Gangliosidosis	Camptodactyly of finger, Weight loss, Abnormal diaphysis morphology, Abnormal epiphysis morpholog...	ORPHA:354
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Kagami-Ogata Syndrome	Limb undergrowth, Long fingers, Coxa valga, Micrognathia	OMIM:608149
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Short foot, Large hands, Talipes equinovarus, Cubitus valgus, Short distal phalanx ...	OMIM:300534
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Truncal obesity, Abnormal epiphysis morphology, Hypopl...	ORPHA:2637
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial ...	OMIM:601812
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Alagille Syndrome 1	Hypoplasia of the ulna, Short distal phalanx of finger	OMIM:118450
47,Xyy Syndrome	Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Macroorchidism	ORPHA:8
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Juvenil...	ORPHA:1855
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl...	ORPHA:2754
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly	OMIM:619123
Cinca Syndrome	Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd...	ORPHA:1451
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Short long bone, Short palm, Bicoronal synostosis, Brachydactyly	OMIM:619184
Rin2 Syndrome	Brachydactyly	ORPHA:217335
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger	OMIM:239300
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi...	ORPHA:2886
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Clinodactyly, Brachydactyly	OMIM:217980
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ...	OMIM:613848
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Brachydactyly	ORPHA:2075
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb	OMIM:314390
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short...	ORPHA:1708
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem...	OMIM:610759
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly...	OMIM:200110
Trisomy 8Q	Deep palmar crease, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:1752
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Proximal placement of ...	OMIM:261540
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc...	OMIM:252500
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi...	OMIM:122470
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99228
Monosomy X	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99226
Turner Syndrome	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:881
Occipital Horn Syndrome	Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa...	ORPHA:198
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia	OMIM:601162
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Charge Syndrome	Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab...	OMIM:214800
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:819
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e...	ORPHA:261323
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Failure to thrive, Hip dislocation	OMIM:618005
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	ORPHA:397709
Slc39A8-Cdg	Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexion contractu...	ORPHA:468699
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova...	ORPHA:1358
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Micrognathia, Coxa valga, Flared metaphysis, Hip dislocation...	OMIM:309350
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Macrodactyly	Macrodactyly	OMIM:155500
Frontorhiny	Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
3C Syndrome	Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br...	ORPHA:7
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Large for gestational age, Tibial bowing, Hypoplas...	ORPHA:96334
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Cryptorchidism, Clinodactyly, Truncal obesity	OMIM:616541
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Irregular menstruation, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis ...	OMIM:616482
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finger, Congenital ...	OMIM:304110
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Craniosynostosis, Brachydactyly	ORPHA:457193
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Weill-Marchesani Syndrome 1	Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly	OMIM:277600
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Radio-Tartaglia Syndrome	Brachydactyly, Micrognathia, Tapered finger	OMIM:619312
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Craniofacioskeletal Syndrome	Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinodactyly of th...	OMIM:300712
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short...	ORPHA:2908
Vacterl With Hydrocephalus	Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia	ORPHA:3412
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Cryptorchidism, 2-3 toe syndactyly, Broad f...	ORPHA:488632
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis morphology, H...	ORPHA:800
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Brachydactyly	OMIM:610253
Down Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Sandal gap, Bilateral single transverse palmar cre...	ORPHA:870
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Kabuki Syndrome 2	Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Micrognathia, Av...	OMIM:150230
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg...	ORPHA:235
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchidism, Patellar aplasia, Infe...	OMIM:606170
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal shortening of ...	ORPHA:488434
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty...	OMIM:614188
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Micrognathia, Crypt...	OMIM:180700
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal distal phalanx morphology of finger, Bilateral single transverse palmar creases, Microme...	ORPHA:2636
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Elbow dislocation, Cryptor...	ORPHA:99776
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral retroversion,...	OMIM:610682
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,...	ORPHA:2658
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Micrognathia, Short distal phalanx of finger	ORPHA:2959
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, P...	OMIM:619297
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Micrognathia, Bif...	ORPHA:97360
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Microgn...	ORPHA:96182
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath...	ORPHA:2753
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing...	ORPHA:1974
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Micrognathia, Preaxial hand polydactyly, Abnormal hip...	ORPHA:261318
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Abnormal sperm motility, Female infertility	ORPHA:244
Macs Syndrome	Micrognathia, Single transverse palmar crease, Brachydactyly	OMIM:613075
White-Sutton Syndrome	Micrognathia, Hypoplastic cervical vertebrae, Wormian bones, Broad thumb, Brachydactyly	OMIM:616364
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi...	ORPHA:2750
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas...	ORPHA:3003
Myhre Syndrome	Brachydactyly, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abnormal metaphysis m...	ORPHA:2588
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Long ...	OMIM:256520
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Ayme-Gripp Syndrome	Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly	OMIM:601088
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Long hallux, Brachydactyly	OMIM:259775
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ...	OMIM:618050
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypt...	OMIM:613457
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short lo...	OMIM:139210
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd...	ORPHA:1521
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Small for gestational age, Broad palm, Limb undergrowth, Failure to thrive	ORPHA:99843
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus, Clinodactyl...	ORPHA:177907
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v...	ORPHA:1340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal...	ORPHA:364577
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Limb undergrowth, Talipes equinovarus	OMIM:619124
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia	OMIM:200995
Desmosterolosis	Metatarsus adductus, Failure to thrive, Micromelia, Micrognathia	ORPHA:35107
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse...	ORPHA:955
Meester-Loeys Syndrome	Joint dislocation, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Brachydactyly	OMIM:300989
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p...	OMIM:614976
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Brac...	OMIM:617062
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact...	ORPHA:818
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture...	OMIM:619777
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
C Syndrome	Joint dislocation, Toe syndactyly, Bilateral single transverse palmar creases, Failure to thrive ...	ORPHA:1308
Noonan Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Micrognathia, Brachydactyly	ORPHA:648
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Ce...	OMIM:211380
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla...	ORPHA:306542
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Micrognathia, Proximal placement of thum...	ORPHA:199
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty...	OMIM:311200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Wormian bones, Cervi...	ORPHA:444077
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Chops Syndrome	Cervical C2/C3 vertebral fusion, Brachydactyly	OMIM:616368
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly	ORPHA:847
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Cryptorchidism, Polydac...	ORPHA:464306
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus, Camptodac...	OMIM:280000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Brachydactyly, Single transverse palmar crease, Short palm	ORPHA:466950
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Small for ge...	ORPHA:666
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Short foot, Camptoda...	OMIM:309590
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Polydactyly, ...	OMIM:613610
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot...	ORPHA:280633
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Arboleda-Tham Syndrome	Microretrognathia, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Craniosynost...	OMIM:616268
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Smith-Lemli-Opitz Syndrome	Microretrognathia, Cryptorchidism, Overlapping toe, Micromelia, Micrognathia, Metatarsus adductus...	OMIM:270400
Jacobsen Syndrome	Clinodactyly of the 5th finger, Micrognathia, Missing ribs, Brachydactyly	OMIM:147791
Mgat2-Cdg	Brachydactyly	ORPHA:79329
8Q24.3 Microdeletion Syndrome	Microretrognathia, Long toe, Short femur, Congenital hip dislocation, Rocker bottom foot, Short h...	ORPHA:508488
Neu-Laxova Syndrome	Micromelia, Micrognathia, Large hands, Hypogonadism, Pterygium	ORPHA:2671
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical vertebrae, ...	OMIM:157800
Toriello-Carey Syndrome	Clinodactyly, Micrognathia, Brachydactyly	ORPHA:3338
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Brachydactyly, Single transverse palmar crease, Short palm	ORPHA:466943
Cystic Fibrosis	Male infertility, Clubbing of fingers, Failure to thrive	OMIM:219700
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly	ORPHA:1519
Barber-Say Syndrome	Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly	OMIM:209885
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Cryptorchidism, Postaxial hand polydactyly, 2-3 fin...	OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelvis ...	ORPHA:93271
Pgm3-Cdg	Brachydactyly	ORPHA:443811
Noonan Syndrome 1	Male infertility, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Synovitis, Hypogona...	OMIM:163950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Pallister-Killian Syndrome	11 pairs of ribs, Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesome...	OMIM:601803
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Craniosynos...	OMIM:610168
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Witteveen-Kolk Syndrome	Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma...	ORPHA:85450
Holoprosencephaly	Hand polydactyly, Brachydactyly	ORPHA:2162
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tapered finger, Micrognathia, Genu valgum, Talipes equinovarus, Radial deviation of finger, Clino...	OMIM:309580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Cystinosis, Nephropathic	Male infertility, Failure to thrive in infancy, Metaphyseal widening, Genu valgum, Weight loss, M...	OMIM:219800
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Short foot, Hip dysplasia, Foot polydactyly, Clinodact...	ORPHA:1606
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Male infertility	OMIM:244400
Aspartylglucosaminuria	Arthritis, Abnormal morphology of ulna	ORPHA:93
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Cowden Syndrome	Palmoplantar keratoderma, Brachydactyly	ORPHA:201
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus...	OMIM:607872
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypop...	OMIM:219000
Charge Syndrome	Clinodactyly of the 5th finger, Abnormal tibia morphology, Bifid femur, Brachydactyly	ORPHA:138
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Failure to thrive in infancy, Stippled calcification of the shoulder, Ab...	ORPHA:51608
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510

Histopathology

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

There is no histopathology data for Evx2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Evx2.

No publications found that use IMPC mice or data for Evx2.

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MGI Allele	Allele Type	Produced
Evx2^{tm199162(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Evx2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Evx2^{tm199162(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Evx2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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