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Gene: Hoxd12 MGI:96204

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

homeobox D12

Synonyms:

Hox-5.6, Hox-4.7

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 Hoxd12 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 Hoxd12 (0 diseases)
Human diseases predicted to be associated with Hoxd12 (1345 diseases)

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

The table below shows human diseases predicted to be associated to Hoxd12 by phenotypic similarity.

Disease	Matching phenotypes	Source
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Toes, Space Between First And Second	Sandal gap	OMIM:189230
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
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 C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ...	OMIM:606835
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Symphalangism, Proximal, 1B	Pes planus, Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodac...	OMIM:615298
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Hallux Varus-Preaxial Polysyndactyly Syndrome	Clinodactyly of the 5th finger, Sandal gap	ORPHA:2110
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
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 B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay	Metatarsus adductus, Unusual dermatoglyphics	OMIM:112370
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Cleidorhizomelic Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger	OMIM:119650
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Thumb Deformity	Aplasia/Hypoplasia of the thumb	OMIM:188100
Keratosis Palmaris Et Plantaris With Clinodactyly	Clinodactyly of the 5th finger	OMIM:148520
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Metatarsus Varus, Type I	Metatarsus adductus	OMIM:156520
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
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
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly	OMIM:610140
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
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
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly	OMIM:300577
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Peripheral Dysostosis	Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han...	ORPHA:1795
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capital femoral epi...	OMIM:132400
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific...	OMIM:600969
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia	OMIM:211180
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
2q37 monosomy	Brachydactyly	DECIPHER:44
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
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
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphys...	ORPHA:564003
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
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
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
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
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	OMIM:612916
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612463
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Crisponi/Cold-Induced Sweating Syndrome 2	Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly	OMIM:610313
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs	ORPHA:156728
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente...	OMIM:177170
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	ORPHA:444051
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone	OMIM:262500
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys...	ORPHA:2631
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl...	ORPHA:2619
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Pes planus, Pes cavus, Tapered finger	OMIM:309585
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Metachondromatosis	Abnormal joint morphology, Bowing of the long bones	OMIM:156250
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly...	ORPHA:166024
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, ...	ORPHA:521308
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Lower limb asymmetry, Osteoarthritis, Abnormal fibula morphol...	ORPHA:85198
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Aganglionic megacolon, Type D brachydactyly	OMIM:306980
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost...	OMIM:615314
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab...	OMIM:617974
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
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
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Coxa vara, Arthritis, Congenital finger flexion contract...	OMIM:208250
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Acromicric Dysplasia	Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal...	ORPHA:969
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal	ORPHA:2489
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Pde4D Haploinsufficiency Syndrome	Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper limb...	ORPHA:439822
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti...	OMIM:613684
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t...	OMIM:300244
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology,...	ORPHA:63442
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly	ORPHA:500166
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
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Clinodactyly, 2-3 toe syndactyly	OMIM:619311
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
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly	OMIM:618453
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Acromegaloid Facial Appearance Syndrome	Large hands, Micrognathia, Short 5th metacarpal, Tapered finger	OMIM:102150
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Tali...	OMIM:158300
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand	ORPHA:177910
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly	OMIM:300928
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h...	ORPHA:2496
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	ORPHA:217017
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Lamb-Shaffer Syndrome	Pes planus, Overlapping toe, Long fingers, Clinodactyly, Long hallux	OMIM:616803
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
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
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal...	OMIM:618658
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Clinodactyly, Short palm	ORPHA:73273
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Arthritis, Short metacarpal, Short metatarsal	OMIM:613328
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod...	OMIM:184250
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab...	ORPHA:324442
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly	OMIM:600430
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Short metatarsal, Cubitus valgus	OMIM:248800
Patent Ductus Arteriosus 2	Clinodactyly of the 5th finger	OMIM:617035
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Microcephaly-Cardiomyopathy	Clinodactyly of the 5th finger, Sandal gap	OMIM:251220
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Prieto Syndrome	11 pairs of ribs, Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of fing...	OMIM:309610
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Neuropathic arthropathy, Osteolytic defects of the phalanges of the hand, Hyporefl...	OMIM:615632
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal...	OMIM:602849
Intellectual Developmental Disorder, X-Linked 9	Short distal phalanx of finger	OMIM:309549
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Short finger, Brachydactyly	OMIM:103580
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads	OMIM:271600
Cohen Syndrome	Pes planus, Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Shor...	OMIM:216550
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Fla...	OMIM:612350
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Co...	OMIM:614813
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle, Cl...	OMIM:261990
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand	OMIM:300261
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1777
Trichorhinophalangeal Syndrome, Type I	Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp...	OMIM:157900
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly	OMIM:612626
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Osteoglophonic Dysplasia	Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Progressive Osseous Heteroplasia	Osteoarthritis, Brachydactyly	ORPHA:2762
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, S...	OMIM:170390
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Acromicria, Small hand, Short foot, Clinodactyly	ORPHA:254525
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen...	OMIM:244600
Boudin-Mortier Syndrome	Long toe, Mallet finger, Pes planus, Arachnodactyly, Long fingers, Pseudoepiphyses of the proxima...	OMIM:619543
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca...	ORPHA:93329
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis...	OMIM:215150
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormality of th...	ORPHA:337
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all...	OMIM:616809
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas...	ORPHA:11
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
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
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612462
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th metacarpal	OMIM:619638
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:614851
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of...	ORPHA:444002
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e...	ORPHA:263463
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Potocki-Shaffer Syndrome	Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly, Micrognathia	OMIM:300934
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
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
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc...	OMIM:615777
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly	ORPHA:921
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl...	OMIM:226960
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Coxa vara, R...	ORPHA:1425
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Abnormal di...	ORPHA:1657
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Abnormal diaphysis morphology,...	ORPHA:3409
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod...	OMIM:300590
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short foot, Small hand, Talipes equinovarus, Hip dislocation	OMIM:300434
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome	Clinodactyly of the 5th finger, Diffuse palmoplantar hyperkeratosis	ORPHA:86919
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Microcephaly 27, Primary, Autosomal Dominant	Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxation	OMIM:619180
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha...	OMIM:617926
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ...	OMIM:619557
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ...	ORPHA:1597
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Distal Deletion 10Q	Pes planus, Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar creas...	ORPHA:96148
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ...	OMIM:184252
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Short foot, Oligodactyly	OMIM:619758
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb...	ORPHA:628
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Met...	OMIM:123450
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph...	ORPHA:93360
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han...	ORPHA:1842
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th...	OMIM:619451
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor...	ORPHA:2635
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Ring Chromosome 6 Syndrome	Short distal phalanx of finger	ORPHA:1448
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p...	OMIM:610954
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto...	ORPHA:2804
Anauxetic Dysplasia 1	Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra...	OMIM:607095
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Large hands, Clinodactyly of the 5th finger, Broad th...	ORPHA:3080
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly	ORPHA:85279
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Single transverse palmar crease, Adducted thumb	OMIM:620062
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Square pelvis bone, Shor...	ORPHA:166272
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly	ORPHA:2145
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal...	ORPHA:3051
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Flattened epiphysis, Genu valgum, Polydact...	OMIM:607131
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short foot, Wormian bones, Upper limb undergrowth, Toe clinodactyly	ORPHA:166277
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,...	OMIM:618019
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Micrognathia	ORPHA:357175
Abruzzo-Erickson Syndrome	Radioulnar synostosis	OMIM:302905
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n...	OMIM:608154
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger	OMIM:155050
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Pe...	OMIM:275900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger	OMIM:181180
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes valgus, Br...	OMIM:614376
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Scapular winging, Pes planus, Single transverse palmar crea...	OMIM:618870
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Short foot, Clinodactyly, Small hand, Micrognathia	ORPHA:254531
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum	ORPHA:1295
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Laron Syndrome	Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydactyly	ORPHA:633
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Holzgreve Syndrome	Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2167
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Imagawa-Matsumoto Syndrome	Clinodactyly, Large hands, Long foot, Camptodactyly	OMIM:618786
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum	ORPHA:1035
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi...	OMIM:136760
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Van Maldergem Syndrome 1	Short fourth metatarsal, Wide cranial sutures, Micrognathia, Abnormal foot morphology, Radial hea...	OMIM:601390
Larsen Syndrome	Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Di...	OMIM:150250
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne...	ORPHA:2557
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Micrognathia	OMIM:615162
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
Scholte Syndrome	Short foot, Acromicria, Small hand, Patellar hypoplasia	OMIM:300977
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Short distal phalanx of finger	OMIM:618470
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Radioulnar synostosis, Short middle phalanx of the 4th finger, Limited prona...	OMIM:616738
Martsolf Syndrome 1	Pes planus, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopa...	OMIM:212720
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb	ORPHA:1794
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
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
Spinocerebellar Ataxia 47	Clinodactyly, Small hand, Tapered finger	OMIM:617931
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Short 4th metacarpal	ORPHA:2183
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly	ORPHA:251046
Rudiger Syndrome	Short digit, High axial triradius, Single transverse palmar crease	OMIM:268650
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Swan neck-like deformities of the fingers, Metopic synostosis, Ulnar deviated club...	OMIM:619880
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
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
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Abnormal e...	ORPHA:503
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger	ORPHA:2776
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Clinodactyly of the 5th ...	OMIM:618143
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t...	OMIM:166300
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Temple-Baraitser Syndrome	Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pseudoepiphysis of the th...	OMIM:611816
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head	ORPHA:401935
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger	ORPHA:2013
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Xylt1-Cdg	Joint dislocation, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck...	ORPHA:370930
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Clinodactyly	OMIM:300997
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte...	ORPHA:163654
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, F...	OMIM:300232
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Weill-Marchesani Syndrome 2	Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph...	OMIM:608328
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn...	OMIM:601559
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Short...	OMIM:617137
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Prominent metopic ridge, Rhizomelia, Craniosynostosis, Micrognathia, Phalangeal cone-shaped epiph...	OMIM:266920
Erythrokeratodermia Variabilis	Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F...	OMIM:252100
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short metatarsal, Short 3rd metacarpal, Broad distal ph...	ORPHA:79444
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger	OMIM:309620
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutures, Micrognathia, Cutaneo...	OMIM:615546
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Clinodactyly	ORPHA:1445
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Finger clinodactyly,...	ORPHA:99330
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, 2-3 toe syndactyly	OMIM:617352
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h...	OMIM:181405
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ...	OMIM:241800
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor...	ORPHA:2655
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact...	OMIM:615547
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to...	ORPHA:1327
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Broad foot, Brachydactyly	ORPHA:3085
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
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Osteoglosphonic Dysplasia	Micrognathia, Rhizomelia, Craniosynostosis, Brachydactyly	ORPHA:2645
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis	ORPHA:3270
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2107
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Clinodactyly, Ulnar deviation of the wrist, Unilambdoid synostosis, Micrognathia	OMIM:618577
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
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger	ORPHA:1914
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars...	OMIM:601680
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Braddock-Carey Syndrome 2	Clinodactyly	OMIM:619981
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, ...	OMIM:614592
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Pre...	ORPHA:93352
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the...	ORPHA:502
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Pes cavus, Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U...	OMIM:604757
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Craniosynostosis, Brachydactyly	OMIM:618265
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:211750
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Single transverse palmar crease	ORPHA:178148
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Wiedemann-Steiner Syndrome	Pes planus, Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of the ...	OMIM:605130
Lujan-Fryns Syndrome	Micrognathia, Arachnodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:776
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand	OMIM:300845
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly	OMIM:614838
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal osteolysis, ...	ORPHA:2774
Steel Syndrome	Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:615155
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal...	OMIM:236500
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteoarthritis, Genu valgum, Arthritis, Abnormal epiphysis morphology, Abnorma...	ORPHA:53
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thum...	ORPHA:2994
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Proxi...	ORPHA:168549
Coffin-Siris Syndrome 6	Wormian bones, Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Jansen-De Vries Syndrome	Short foot, Small hand, Brachydactyly	OMIM:617450
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Broad fingertip, Short metatarsal, S...	ORPHA:2896
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila...	OMIM:108145
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum	ORPHA:2611
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly	OMIM:618089
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery...	OMIM:619339
Temtamy Syndrome	Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly	OMIM:218340
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati...	OMIM:218600
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
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
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Hypoplastic pub...	ORPHA:1865
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La...	OMIM:619269
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles, Joint dislocation	OMIM:606220
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Short 3rd metac...	ORPHA:79443
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral cond...	OMIM:307800
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Brachydactyly	ORPHA:2701
Histidinuria Due To A Renal Tubular Defect	Short middle phalanx of finger, Rounded middle phalanx of finger	OMIM:235830
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Achondrogenesis Type 1A	Short foot, Micrognathia, Micromelia, Short palm	ORPHA:93299
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep...	ORPHA:1458
Histidinuria-Renal Tubular Defect Syndrome	Short middle phalanx of finger, Rounded middle phalanx of finger	ORPHA:2158
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma...	ORPHA:1798
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif...	OMIM:156550
Clark-Baraitser Syndrome	Clinodactyly, Sandal gap	OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Sandal gap, Small hand, Short foot, Pes cavus, Brachydactyly	OMIM:300354
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short long bone, Meso...	OMIM:616229
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Recurrent mandibular subluxa...	OMIM:225410
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula...	OMIM:258315
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Pes planus, Shoulder flexi...	OMIM:255800
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Prominent metopic ridge, Clinodactyly	OMIM:620316
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Pa...	ORPHA:2916
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micromelia, Micrognathia	ORPHA:93298
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	OMIM:616354
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Brachydactyly	ORPHA:377
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ...	ORPHA:3265
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Talipes equinovarus, Clinodactyly, Joint contracture of the hand, Clinodactyly of t...	OMIM:601110
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r...	ORPHA:2021
Blepharocheilodontic Syndrome 1	Clinodactyly, Cutaneous syndactyly	OMIM:119580
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly	ORPHA:3306
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly	OMIM:618381
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow...	OMIM:207410
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co...	OMIM:259600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:1563
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Micrognathia, Long hallux, Clinodactyly, Broad thumb	OMIM:620194
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Wormian bones, Decreased fibular diameter, Micrognathia, Flared me...	OMIM:616897
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bo...	OMIM:608612
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Abnormal foot morphology, Large hand...	ORPHA:3219
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse palmar crease,...	OMIM:305400
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat...	OMIM:620099
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:1770
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Ost...	OMIM:265800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th...	OMIM:618914
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius	ORPHA:3469
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Metopic depr...	ORPHA:313855
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac...	OMIM:271640
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa...	OMIM:305600
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Partial duplication...	OMIM:618348
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Coxa valga, Micrognathia, Advanced ossification of carpal bon...	OMIM:618363
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Pterygium	OMIM:224410
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a...	OMIM:613805
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases	ORPHA:2083
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B...	ORPHA:96097
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor...	ORPHA:1988
Tonne-Kalscheuer Syndrome	Pes planus, Micrognathia, Broad thumb, Brachydactyly	OMIM:300978
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha...	OMIM:616331
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Short distal phalanx of finger	OMIM:302950
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Ulnar deviation of finger, Radioulnar...	ORPHA:2876
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Coffin-Siris Syndrome 2	Brachydactyly, Sandal gap, Short distal phalanx of finger	OMIM:614607
Microcephaly-Capillary Malformation Syndrome	Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Micromelia, Lower limb asymmetry	ORPHA:64755
Temple Syndrome	Short foot, Clinodactyly, Small hand, Micrognathia	OMIM:616222
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Small hand, Clin...	ORPHA:94065
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Ruijs-Aalfs Syndrome	Pes planus, Down-sloping shoulders, Single transverse palmar crease, Micrognathia, Elbow flexion ...	OMIM:616200
Nephrotic Syndrome, Type 11	Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Micrognathia	OMIM:616730
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Pes valgus, Brachydactyly	OMIM:619995
Schilbach-Rott Syndrome	Clinodactyly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Micrognathia	OMIM:164220
Achondrogenesis, Type Ib	Hypoplastic ilia, Short ribs, Micromelia	OMIM:600972
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert...	OMIM:268310
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short...	ORPHA:1001
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Brachydactyly	OMIM:602361
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short foot, Clinodactyly, Small hand, Micrognathia	ORPHA:96184
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger	ORPHA:86822
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ...	ORPHA:1786
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Bilateral triphalangeal thumbs, Short distal phalanx o...	OMIM:619356
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv...	OMIM:618804
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones o...	ORPHA:221016
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
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
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Smith-Magenis Syndrome	Pes planus, Broad palm, Short palm, Abnormal forearm morphology, Brachydactyly	OMIM:182290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:241530
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Clinodactyly, Short 5th finger, Hypoplasia of the capital femoral epiphysis	ORPHA:557003
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger	OMIM:601355
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ...	ORPHA:3041
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrod...	ORPHA:166035
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300554
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ...	OMIM:616894
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, Cone-shaped epiphyses of the...	ORPHA:2484
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Ectrodactyly	OMIM:147950
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly	OMIM:617157
Braddock-Carey Syndrome 1	Clinodactyly, Small hand, Talipes equinovarus, Camptodactyly	OMIM:619980
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye...	ORPHA:93346
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger	ORPHA:181
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Pycnodysostosis	Persistent open anterior fontanelle, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Lower limb...	ORPHA:763
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasia, Finger symphal...	ORPHA:221008
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatarsus adductus, Lim...	OMIM:121050
Frank-Ter Haar Syndrome	Bowing of the long bones, Delayed cranial suture closure, Micrognathia, Metatarsus adductus, Flar...	OMIM:249420
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:277440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femo...	ORPHA:93315
Achondrogenesis	Micromelia, Micrognathia	ORPHA:932
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, Abnormal finger ...	ORPHA:436003
Verheij Syndrome	Short 5th finger, Vertebral fusion, Clinodactyly, Hip dislocation	OMIM:615583
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios...	OMIM:614099
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Muenke Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Short ribs, Widely patent fontanelles and sutur...	OMIM:241500
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Micro...	OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Short foot, Talipes calcaneovarus, Large hands, Talipes equinovarus, Cubitus valgus...	OMIM:300534
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T...	ORPHA:1120
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m...	ORPHA:50945
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Cinca Syndrome	Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd...	ORPHA:1451
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Cranioectodermal Dysplasia 4	Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Broad distal phalanx of fi...	OMIM:614378
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
19P13.3 Microduplication Syndrome	Micrognathia, Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Pes cavus, Hip subluxation	ORPHA:447980
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid ...	OMIM:616007
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi...	ORPHA:672
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Ulnar deviation of finger, Genu valgu...	ORPHA:949
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly	OMIM:603585
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Talipes equinovarus	OMIM:616789
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca...	ORPHA:90652
Three M Syndrome 2	Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly	OMIM:612921
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Oculofaciocardiodental Syndrome	Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2...	ORPHA:2712
Rin2 Syndrome	Pes planus, Brachydactyly	ORPHA:217335
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Prominent fingertip pads, Clinodactyly, Single transverse palmar crease	ORPHA:391372
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Micrognathia, Short metatarsal, Cubitus valgus, Short 4th metacarpal, Muscle hyper...	ORPHA:1772
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial ...	OMIM:601812
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Noonan Syndrome 13	Pes planus, Prominent metopic ridge, Overlapping toe, Tapered finger, Metatarsus adductus, Microg...	OMIM:619087
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Clinodactyly	OMIM:615560
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
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, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ...	OMIM:617061
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly	OMIM:619123
Coffin-Lowry Syndrome	Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,...	ORPHA:192
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab...	ORPHA:85408
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplastic iliac wing,...	ORPHA:2637
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Small hand, Short 4th metacarpal	ORPHA:1787
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Refsum Disease	Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Fanconi Anemia, Complementation Group S	Clinodactyly, Proximal placement of thumb	OMIM:617883
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement...	OMIM:261540
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Talipes...	ORPHA:1512
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Talipes equinovaru...	OMIM:617822
Insulin-Like Growth Factor I, Resistance To	Sandal gap, Micrognathia, Small hand, Short foot, Radial deviation of finger, Short finger, Clino...	OMIM:270450
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Brachydactyly	ORPHA:2075
Autosomal Recessive Spastic Paraplegia Type 20	Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Abnormal foot morph...	ORPHA:101000
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e...	ORPHA:261323
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon...	OMIM:610915
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
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
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
Trisomy 8Q	Deep palmar crease, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:1752
Frontorhiny	Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Clinodactyly, Brachydactyly	OMIM:217980
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Single transverse palmar crease, Micrognathia	ORPHA:73272
Al Kaissi Syndrome	Pes planus, Clinodactyly, Deep palmar crease, Small hand	OMIM:617694
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Clinodactyly, Micrognathia	OMIM:618336
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300009
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ...	OMIM:613848
Kagami-Ogata Syndrome	Limb undergrowth, Long fingers, Micrognathia, Coxa valga	OMIM:608149
Mycetoma	Abnormality of the knee, Abnormality of the hand, Structural foot deformity, Abnormal forearm bon...	ORPHA:2583
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Tibial Hemimelia	Absent tibia	OMIM:275220
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme...	ORPHA:221120
Glutamine Deficiency, Congenital	Micromelia, Camptodactyly	OMIM:610015
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho...	OMIM:269860
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Tibial bowing, Slender long bone, Wormian bones	OMIM:259420
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Down-sloping shoulders, Deviation of the 5th toe, Micrognathia, Slender toe, Pes valgus, Clinodac...	ORPHA:391408
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Talipes, Pes cavus, Single transverse palmar crease	ORPHA:79243
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Juvenil...	ORPHA:1855
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long ...	ORPHA:73230
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl...	ORPHA:2754
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,...	OMIM:616145
Ring Chromosome 12 Syndrome	Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb	ORPHA:1439
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
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
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm...	OMIM:263750
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Joint dislocation, Bowing of the long bones, Pes planus, Arachnodactyly, Single transve...	OMIM:130070
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	ORPHA:397709
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly	OMIM:619479
Schisis Association	Micromelia	ORPHA:63862
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Branchiogenic-Deafness Syndrome	Abnormal foot morphology, Short distal phalanx of finger	OMIM:609166
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tap...	OMIM:619841
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Craniosynostosis, Brachydactyly	ORPHA:457193
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Radial club hand	ORPHA:2165
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease	OMIM:617190
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova...	ORPHA:1358
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Clinodactyly	ORPHA:293939
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finger, Congenital ...	OMIM:304110
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinod...	OMIM:300712
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Abnormal foot morphology, Camptodactyly, Clinodactyly	ORPHA:369891
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-like metaphyses, Subperioste...	ORPHA:289157
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v...	ORPHA:1340
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Dislocated radi...	OMIM:245600
Weill-Marchesani Syndrome 1	Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly	OMIM:277600
Smith-Magenis Syndrome	Pes planus, Toe syndactyly, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Brach...	ORPHA:819
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip...	OMIM:309350
Macrodactyly	Macrodactyly	OMIM:155500
Qazi-Markouizos Syndrome	Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln...	ORPHA:84
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Clinodactyly, Camptodactyly, Tapered finger	OMIM:619576
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:609944
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ...	ORPHA:896
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Short thumb, A...	ORPHA:2909
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Absent palmar crease	OMIM:614230
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th...	OMIM:618918
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Coronal craniosynostosis, Short distal ...	ORPHA:2095
Gm1-Gangliosidosis, Type Ii	Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga	OMIM:230600
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of ha...	OMIM:109400
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing...	ORPHA:1974
3C Syndrome	Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br...	ORPHA:7
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Single transverse palmar crease, Slender long bone, Camptodactyly, Clinodactyly, L...	OMIM:613385
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
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly	ORPHA:2169
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty...	OMIM:614188
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral retroversion,...	OMIM:610682
Radio-Tartaglia Syndrome	Pes planus, Micrognathia, Tapered finger, Pes cavus, Brachydactyly	OMIM:619312
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Down Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Sandal gap, Bilateral single transverse palmar cre...	ORPHA:870
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Brachydactyly	OMIM:610253
Genitopatellar Syndrome	Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radi...	ORPHA:85201
Kabuki Syndrome 2	Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Noonan Syndrome 14	Pes planus, Scapular winging, Deep palmar crease, Pes valgus, Cubitus valgus, Clinodactyly, Limit...	OMIM:619745
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus...	OMIM:606170
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi...	ORPHA:2886
Gm1 Gangliosidosis	Camptodactyly of finger, Abnormal diaphysis morphology, Abnormal epiphysis morphology, Limb under...	ORPHA:354
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Clinodactyly, Short distal phalanx of finger	OMIM:615866
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Broad hallux, Micrognathia, Small hand, Tibial bowing, Short foot, Broad...	ORPHA:251028
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ...	ORPHA:264200
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Small...	OMIM:180700
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd...	ORPHA:1521
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa	OMIM:616482
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg...	ORPHA:235
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal shortening of ...	ORPHA:488434
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro...	ORPHA:2636
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Clinodactyly of the ...	OMIM:614114
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi...	OMIM:122470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ...	ORPHA:2273
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
Geroderma Osteodysplasticum	Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Camptodactyly, Wormian bones	OMIM:231070
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Short Syndrome	Enlarged epiphyses, Micrognathia, Slender long bone, Radial deviation of finger, Clinodactyly	OMIM:269880
19P13.13 Microdeletion Syndrome	Pes planus, Sandal gap, Long fingers, Deep plantar creases, Clinodactyly	ORPHA:357001
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger...	OMIM:618050
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Micrognathia, Short distal phalanx of finger	ORPHA:2959
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol...	ORPHA:289
Slc39A8-Cdg	Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of to...	ORPHA:468699
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short...	ORPHA:1708
Meester-Loeys Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Bra...	OMIM:300989
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,...	ORPHA:2658
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Acromesomelia	ORPHA:500159
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Preaxial hand polydactyly, Abn...	ORPHA:261318
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, 2-3 toe syndactyly, Broad finger, Limb unde...	ORPHA:488632
Congenital Myopathy 17	Overlapping toe, Tapered finger, Hand clenching, Overlapping fingers, Clinodactyly	OMIM:618975
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Pes cavus	OMIM:616541
Macs Syndrome	Pes planus, Micrognathia, Single transverse palmar crease, Brachydactyly	OMIM:613075
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Camp...	OMIM:608156
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolytic defe...	ORPHA:90154
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Hip dislocation	OMIM:618005
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Delayed closure of the anterior fontan...	OMIM:305450
Kinsship Syndrome	Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular h...	OMIM:619297
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi...	ORPHA:2750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t...	ORPHA:371428
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Hip dis...	ORPHA:99776
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Prominent m...	OMIM:136140
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Pes planus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture...	OMIM:602782
Myhre Syndrome	Brachydactyly, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abnormal metaphysis m...	ORPHA:2588
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Long hallux, Brachydactyly	OMIM:259775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia...	ORPHA:96334
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Hip dysplasia, Long thum...	OMIM:300895
White-Sutton Syndrome	Micrognathia, Hypoplastic cervical vertebrae, Broad foot, Wormian bones, Broad thumb, Brachydactyly	OMIM:616364
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla...	ORPHA:306542
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi...	ORPHA:1323
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Prader-Willi Syndrome Due To Translocation	Pes planus, Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus,...	ORPHA:177907
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognat...	ORPHA:97360
Ayme-Gripp Syndrome	Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly	OMIM:601088
Feingold Syndrome Type 1	Toe syndactyly, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, 4-5 toe syndac...	ORPHA:391641
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality ...	ORPHA:319182
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Osteolytic defects of the phalanges of the hand, Foot acroo...	OMIM:102500
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d...	OMIM:176270
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Brac...	OMIM:617062
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short lo...	OMIM:139210
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia	OMIM:200995
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Craniosynostosis, Lower limb asymmetry, Abnormal sacroiliac joint mor...	ORPHA:289176
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas...	ORPHA:3003
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Delayed closure of the anterior fontanelle, Micrognat...	OMIM:300373
Hyperphosphatasia-Intellectual Disability Syndrome	Clinodactyly, Hip dysplasia, Shortening of all distal phalanges of the fingers, Micrognathia	ORPHA:247262
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse...	ORPHA:955
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Camptodactyly, Clinodactyly	OMIM:616737
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Camptodactyly	OMIM:617360
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Chops Syndrome	Cervical C2/C3 vertebral fusion, Brachydactyly	OMIM:616368
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Long ...	OMIM:256520
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Fused cervical vertebrae, Clinodactyly, L...	ORPHA:1724
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p...	OMIM:614976
Developmental And Epileptic Encephalopathy 89	Limb undergrowth, Microretrognathia, Talipes equinovarus	OMIM:619124
Noonan Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Micrognathia, Brachydactyly	ORPHA:648
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture...	OMIM:619777
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna...	OMIM:268300
Schwartz-Jampel Syndrome	Hip contracture, Bowing of the long bones, Wormian bones, Pes planus, Shoulder flexion contractur...	ORPHA:800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Prominent fingertip pads, Br...	ORPHA:466950
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly	ORPHA:847
Aspartylglucosaminuria	Pes planus, Arthritis, Abnormal morphology of ulna	ORPHA:93
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Polydactyly, ...	OMIM:613610
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Coxa valga, Tapered finger, Absent frontal sinuses, Talipes equinovarus, Radial deviation of fing...	OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Short foot, Camptoda...	OMIM:309590
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty...	OMIM:311200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Camptodactyly	ORPHA:228426
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial...	ORPHA:2753
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact...	ORPHA:818
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,...	OMIM:269150
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing...	OMIM:211380
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Atelis Syndrome 2	Pes planus, Clinodactyly, Single transverse palmar crease, Micrognathia	OMIM:620185
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger	OMIM:239300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Abnormal femoral tors...	ORPHA:500095
Joubert Syndrome 1	Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly	OMIM:213300
Desmosterolosis	Metatarsus adductus, Talipes, Micromelia, Micrognathia	ORPHA:35107
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus...	OMIM:280000
Toriello-Carey Syndrome	Clinodactyly, Micrognathia, Brachydactyly	ORPHA:3338
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly	ORPHA:1519
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Small hand,...	ORPHA:280633
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
Jacobsen Syndrome	Clinodactyly of the 5th finger, Micrognathia, Missing ribs, Brachydactyly	OMIM:147791
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Talipes, Tapered finger, Small hand, Short foot, Hip dysplasia,...	OMIM:301044
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Avascular necrosis of the cap...	ORPHA:2044
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly	ORPHA:466943
Mgat2-Cdg	Brachydactyly	ORPHA:79329
C Syndrome	Joint dislocation, Toe syndactyly, Talipes, Micromelia, Micrognathia, Hand polydactyly, Clinodact...	ORPHA:1308
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
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly...	OMIM:200110
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Clinodactyly	OMIM:618164
Chromosome 1P36 Deletion Syndrome, Proximal	Clinodactyly, Micrognathia, Camptodactyly	OMIM:619343
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Clinodactyly, Postaxial polydactyly, Micrognathia	OMIM:618460
Barber-Say Syndrome	Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly	OMIM:209885
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical vertebrae, ...	OMIM:157800
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc...	OMIM:252500
Arboleda-Tham Syndrome	Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ...	OMIM:616268
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia	OMIM:601162
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Overlapping toe, Broad palm	ORPHA:99843
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Micrognathia, Talipes cal...	ORPHA:75857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single tran...	OMIM:612474
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,...	OMIM:610168
8Q24.3 Microdeletion Syndrome	Long toe, Microretrognathia, Pes planus, Congenital hip dislocation, Short femur, Single transver...	ORPHA:508488
Pgm3-Cdg	Decreased/absent ankle reflexes, Brachydactyly	ORPHA:443811
Luscan-Lumish Syndrome	Advanced ossification of carpal bones	OMIM:616831
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Micrognathi...	OMIM:249000
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short...	ORPHA:2908
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Fractures of...	ORPHA:666
Neu-Laxova Syndrome	Micromelia, Micrognathia, Large hands, Broad foot, Pterygium	ORPHA:2671
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas...	OMIM:150230
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Tapered finger, Micrognathia, Talipes calcaneovalgus, Genu valgum, Talipes equinovaru...	OMIM:309580
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the distal femoral epiphysis...	ORPHA:99413
Mosaic Monosomy X	Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the distal femoral epiphysis...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the distal femoral epiphysis...	ORPHA:99226
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Camptodactyly, Clinodactyly	ORPHA:487796
Turner Syndrome	Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the distal femoral epiphysis...	ORPHA:881
Noonan Syndrome 1	Micrognathia, Synovitis, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydactyly	OMIM:163950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Clinodactyly, Broad thumb, Single transverse palmar crease	OMIM:612541
Turnpenny-Fry Syndrome	Overlapping toe, Tapered finger, Long fingers, Small hand, Prominent interphalangeal joints, Shor...	OMIM:618371
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Smith-Lemli-Opitz Syndrome	Microretrognathia, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus,...	OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Structural foot deformity, Polydactyly, Acromesome...	ORPHA:464306
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Witteveen-Kolk Syndrome	Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Short foot, Hip dysplasia, Foot ...	ORPHA:1606
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Holoprosencephaly	Hand polydactyly, Talipes, Brachydactyly	ORPHA:2162
Pallister-Killian Syndrome	11 pairs of ribs, Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Edema ...	OMIM:601803
Coffin-Siris Syndrome	Clinodactyly, Short 5th finger	ORPHA:1465
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Cowden Syndrome	Palmoplantar keratoderma, Brachydactyly	ORPHA:201
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Micrognathia, H...	OMIM:264090
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus...	OMIM:607872
Charge Syndrome	Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab...	OMIM:214800
Esophageal Atresia	Clinodactyly	ORPHA:1199
Dpagt1-Cdg	Clinodactyly, Arachnodactyly, Camptodactyly	ORPHA:86309
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Tibial bowing	OMIM:259770
Charge Syndrome	Talipes, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Clinodactyly, Broad hallux, Single transverse palmar crease, Micrognathia	OMIM:620186
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 finger syndactyly, ...	OMIM:312870
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha...	OMIM:219000
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi...	OMIM:309800
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stippled calcification of the shoulder, Abnormal calcification of the ca...	ORPHA:51608

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 Hoxd12

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 Hoxd12.

No publications found that use IMPC mice or data for Hoxd12.

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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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