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Gene: Gdf5 MGI:95688

Gene Summary

Name:

growth differentiation factor 5

Synonyms:

bp, cartilage-derived morphogenetic protein-1, brp, CDMP-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased bone mineral density	Gdf5^em1(IMPC)H	HOM	Early adult	5.11×10^-05
abnormal hindlimb morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
decreased vertical activity	Gdf5^em1(IMPC)H	HOM	Early adult	4.22×10^-05
limb grasping	Gdf5^em1(IMPC)H	HOM	Early adult	1.91×10^-08
abnormal gait	Gdf5^em1(IMPC)H	HOM	Early adult	5.71×10^-18
abnormal digit morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
decreased lymphocyte cell number	Gdf5^em1(IMPC)H	HOM	Early adult	1.56×10^-05
abnormal autopod morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
decreased leukocyte cell number	Gdf5^em1(IMPC)H	HOM	Early adult	8.06×10^-05
decreased exploration in new environment	Gdf5^em1(IMPC)H	HOM	Early adult	2.24×10^-07
decreased locomotor activity	Gdf5^em1(IMPC)H	HOM	Early adult	1.52×10^-05
abnormal bone structure	Gdf5^em1(IMPC)Bay	HOM	Early adult	1.19×10^-09
abnormal bone structure	Gdf5^em1(IMPC)H	HOM	Early adult	4.41×10^-07
abnormal forelimb morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
decreased grip strength	Gdf5^em1(IMPC)Bay	HOM	Early adult	7.34×10^-38

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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.

Eye Morphology

VIP of right eye

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Eye Morphology

VIP of left eye

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Eye Morphology

VIP of right fundus

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Gdf5 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 Gdf5 (17 diseases)
Human diseases predicted to be associated with Gdf5 (1564 diseases)

The table below shows human diseases associated to Gdf5 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Symphalangism, Proximal, 1B	Pes planus, Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodac...	OMIM:615298
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442

The table below shows human diseases predicted to be associated to Gdf5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Symphalangism, Proximal, 1B	Pes planus, Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodac...	OMIM:615298
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Metachondromatosis	Bone pain, Multiple enchondromatosis, Abnormal epiphysis morphology, Abnormal metaphysis morpholo...	ORPHA:2499
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
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 E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
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
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay	Metatarsus adductus, Unusual dermatoglyphics	OMIM:112370
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Knee pain, Delayed epiphyseal ossification, Limited elbow...	OMIM:600969
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Upington Disease	Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip	OMIM:191520
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ...	OMIM:164900
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Metatarsus Varus, Type I	Metatarsus adductus	OMIM:156520
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi...	ORPHA:2741
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Acromicric Dysplasia	Short metacarpal, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, Short long bone...	OMIM:102370
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
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
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Small hand, Short metatarsal, Short foot, ...	OMIM:180870
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
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
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Cleidorhizomelic Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger	OMIM:119650
Humeroradial Synostosis	Humeroradial synostosis	OMIM:143050
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Fl...	ORPHA:93307
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Steel Syndrome	Carpal synostosis, Pes planus, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Pes ca...	OMIM:615155
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet...	OMIM:190351
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Metachondromatosis	Multiple enchondromatosis, Bowing of the long bones, Abnormal joint morphology	OMIM:156250
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep...	OMIM:616716
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia	OMIM:241000
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Acromegaloid Facial Appearance Syndrome	Micrognathia, Tapered finger, Large hands, Short 5th metacarpal, Joint hypermobility	OMIM:102150
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Acromicric Dysplasia	Short metacarpal, Joint stiffness, Delayed skeletal maturation, Small hand, Abnormal femur morpho...	ORPHA:969
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he...	OMIM:610797
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Delayed skeletal maturation, Short thumb, Short metacarpal	ORPHA:2489
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me...	OMIM:609324
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized...	OMIM:277950
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
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
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Legg-Calvé-Perthes Disease	Joint dislocation, Delayed skeletal maturation, Avascular necrosis, Cartilage destruction	ORPHA:2380
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Odontotrichoungual-Digital-Palmar Syndrome	Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist...	OMIM:601957
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612463
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
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
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal...	OMIM:602849
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,...	ORPHA:93328
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
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
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
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
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral crypto...	OMIM:206920
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	OMIM:612916
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Enchondromatosis, Multiple, Ollier Type	Abnormal long bone morphology, Multiple enchondromatosis	OMIM:166000
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the...	OMIM:617604
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Muenke Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Omodysplasia 2	Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ...	OMIM:164745
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os...	OMIM:618395
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,...	OMIM:184260
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe...	OMIM:608940
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Waardenburg Syndrome Type 3	Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly...	ORPHA:896
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit...	ORPHA:2557
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Pes planus, Pes cavus, Tapered finger	OMIM:309585
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	ORPHA:357175
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly	OMIM:300577
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
2q37 monosomy	Brachydactyly	DECIPHER:44
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi...	OMIM:602471
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	OMIM:615162
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tuberosities, Rhizomeli...	OMIM:619636
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Radioulnar synostosis, ...	ORPHA:3268
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Tetrasomy X	Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra...	ORPHA:9
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Shox-Related Short Stature	Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm underg...	ORPHA:314795
Laron Syndrome	Limb undergrowth, Short long bone, Delayed menarche	OMIM:262500
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Dist...	OMIM:158300
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Otoonychoperoneal Syndrome	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Pes planus, Short metacarpal, Joint laxity, Camptodactyly of finger, Tapered finger, ...	OMIM:612350
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
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4th met...	OMIM:619638
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ...	OMIM:609325
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
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis, Umbilical hernia	OMIM:613328
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
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
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Pde4D Haploinsufficiency Syndrome	Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Accelerated skeletal matu...	ORPHA:439822
Seckel Syndrome 7	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clino...	OMIM:614851
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fracture, Proxim...	ORPHA:83468
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac...	OMIM:618392
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Generalized joint laxity, ...	ORPHA:93360
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti...	OMIM:613684
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Flexion contracture, Short metatarsal, Cubitus valgus	OMIM:248800
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Abnormal hip bone morp...	ORPHA:1323
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Flexion contracture, Gen...	ORPHA:263463
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Delayed skeletal maturation, Genu valgum, Slender long bones with narrow diaphyses, D...	OMIM:608154
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Delayed...	OMIM:616723
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Abnorma...	OMIM:184252
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Short third metatarsal, Hand muscle atrophy, Camptodactyly of finger, Peroneal muscle atrophy, Ab...	ORPHA:324442
Femoral-Facial Syndrome	Short femur, Micrognathia, Cryptorchidism, Abnormal fibula morphology, Coxa vara, Abnormal pelvic...	ORPHA:1988
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossification, Short fin...	OMIM:103580
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand	OMIM:300261
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	ORPHA:217017
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys...	ORPHA:2631
Arthrogryposis, Distal, Type 1A	Hip contracture, Stiff shoulders, Congenital hip dislocation, Overlapping toe, Rocker bottom foot...	OMIM:108120
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,...	OMIM:615777
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto...	ORPHA:2804
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly	OMIM:600430
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Cohen Syndrome	Pes planus, Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Shor...	OMIM:216550
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Cryptorchidism, Hy...	OMIM:607143
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis...	ORPHA:2619
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa...	OMIM:272460
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increased bone d...	OMIM:136300
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Metatars...	OMIM:601680
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of...	ORPHA:3265
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short...	ORPHA:90652
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis...	OMIM:166300
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Joint stiffness, Abnormality of the elbow, Hip dislocation, Short middle phala...	ORPHA:1005
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
Anauxetic Dysplasia 3	Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu...	OMIM:618853
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, Lower limb pain, 2-3 toe sy...	OMIM:261990
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
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
Intellectual Developmental Disorder, X-Linked 9	Short distal phalanx of finger	OMIM:309549
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Short 4th metacarpal	ORPHA:2183
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle bone morpho...	OMIM:222765
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Delayed skeletal ...	OMIM:170390
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm...	OMIM:614813
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Lower limb asymmetry...	ORPHA:99330
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis...	OMIM:215150
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612462
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
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as...	ORPHA:1597
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density	ORPHA:2611
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Limitation of joint mobility, Clinodactyly o...	ORPHA:376
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Crypt...	ORPHA:93329
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Arthrogryposis m...	OMIM:162370
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads	OMIM:271600
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, H...	OMIM:157900
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Aase-Smith Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone...	ORPHA:916
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the...	OMIM:615632
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Crypto...	OMIM:258315
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow...	ORPHA:628
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot, Micrognathia	OMIM:183700
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly	ORPHA:1937
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes eq...	OMIM:150250
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan...	OMIM:277590
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint laxity, Joint dislocation, Short clavicles, Short 4th metacarpal	OMIM:606220
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor...	ORPHA:2635
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b...	ORPHA:93346
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Met...	OMIM:123450
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Square pelvis bone, Shor...	ORPHA:166272
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Tibial Hemimelia	Absent tibia	OMIM:275220
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Accelerated skeletal maturation, Neonatal epiphyseal stippling, ...	OMIM:101800
Microcephalic Primordial Dwarfism, Dauber Type	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb ...	ORPHA:319675
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Accelerated skeletal ma...	OMIM:618363
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Radial deviation of th...	ORPHA:1388
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ...	ORPHA:2774
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short foot, Small hand, Talipes equinovarus, Hip dislocation	OMIM:300434
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb	OMIM:314390
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Delayed skeletal maturation, Joint hyperflexibility...	ORPHA:1458
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Joint hype...	ORPHA:503
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec...	OMIM:618469
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin...	OMIM:114300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter, Micrognathi...	OMIM:616897
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Decreased fertility, Obesity, Hypogonadism, Abnormal metacarpal morp...	ORPHA:2233
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ...	OMIM:619557
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes ...	OMIM:612626
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas...	ORPHA:11
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Pes cavus, Short 4th...	OMIM:169400
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho...	ORPHA:296
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal...	OMIM:618658
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
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
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ...	OMIM:224400
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum	ORPHA:1035
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ...	OMIM:607095
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O...	ORPHA:1657
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly	OMIM:614416
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Accelerated skeletal mat...	ORPHA:1425
Slc35A2-Cdg	Failure to thrive in infancy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metat...	ORPHA:356961
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Flat acetabular roof, Elongated femoral neck, Hypoplas...	OMIM:619345
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip...	OMIM:309350
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor...	ORPHA:2900
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Absent palmar crease, Flat...	ORPHA:157965
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p...	OMIM:610954
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ...	OMIM:241800
Martsolf Syndrome 1	Joint laxity, Pes planus, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Shor...	OMIM:212720
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Crypto...	OMIM:263750
Microcephaly 27, Primary, Autosomal Dominant	Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio...	OMIM:619180
Distal Duplication 5Q	Hypoplasia of the ulna, Micrognathia, Absent thumb, Cryptorchidism, Hypoplasia of the radius, Bra...	ORPHA:96097
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m...	ORPHA:380
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Acromesomelia, Brachydactyly	ORPHA:40
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all...	OMIM:616809
Distal Deletion 10Q	Pes planus, Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar creas...	ORPHA:96148
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Ring Chromosome 6 Syndrome	Short distal phalanx of finger	ORPHA:1448
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Dysspondyloenchondromatosis	Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu ...	ORPHA:85198
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ...	ORPHA:86822
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi...	OMIM:101200
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Micrognathia, Abnormal f...	OMIM:601390
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,...	OMIM:613390
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Camptodactyly	OMIM:619751
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Failure to thrive, Lateral femoral bowing	OMIM:239000
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay...	OMIM:620099
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metap...	ORPHA:177910
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly...	ORPHA:3098
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger	OMIM:155050
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ...	ORPHA:1001
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ...	OMIM:143095
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Acromicria, Small hand, Short foot, Clinodactyly	ORPHA:254525
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short metatarsal, Short...	ORPHA:79444
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Large hands, Clinodactyly of the 5th finger, Broad th...	ORPHA:3080
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyl...	ORPHA:221120
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism	ORPHA:1114
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micromelia, Micrognathia	ORPHA:93298
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp...	ORPHA:93317
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Single transvers...	OMIM:618143
Achondrogenesis, Type Ib	Hypoplastic ilia, Short ribs, Micromelia	OMIM:600972
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench f...	OMIM:618870
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l...	OMIM:231050
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Scholte Syndrome	Short foot, Acromicria, Small hand, Patellar hypoplasia	OMIM:300977
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr...	ORPHA:168549
Achondrogenesis Type 1A	Short foot, Micrognathia, Micromelia, Short palm	ORPHA:93299
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger	OMIM:181180
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of the patella	ORPHA:1149
Kinsship Syndrome	Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular h...	OMIM:619297
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Failure to ...	ORPHA:52
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Delayed skeletal maturation, Small hand, Spina bifida occulta, S...	ORPHA:1787
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Refsum Disease	Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus	ORPHA:773
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch...	ORPHA:3138
Melorheostosis	Increased bone mineral density, Joint stiffness, Upper limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu...	OMIM:615546
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh...	OMIM:614524
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Delayed skeletal maturation, Short metatarsal, Broad palm, Elb...	OMIM:608328
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu...	OMIM:255800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor...	ORPHA:2655
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Brachydactyly	OMIM:615633
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu...	OMIM:617925
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Short distal phalanx of finger	OMIM:618470
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Cryp...	OMIM:616145
Grange Syndrome	Syndactyly, Increased susceptibility to fractures, Short palm	ORPHA:79094
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing,...	ORPHA:453510
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly	OMIM:619479
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir...	ORPHA:289
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger	ORPHA:2776
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Delayed skeletal maturation, Talipes equinovarus, Radial deviati...	OMIM:608545
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E...	OMIM:616266
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov...	OMIM:615065
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata,...	OMIM:300373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrod...	ORPHA:166035
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Achondrogenesis	Micromelia, Micrognathia	ORPHA:932
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth	OMIM:613124
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Brachydactyly	OMIM:615314
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Broad 1st metacarpal, S...	ORPHA:79443
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Sandal gap, Short toe, Delayed skeletal maturation, Clinodactyly of...	OMIM:617877
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Abruzzo-Erickson Syndrome	Radioulnar synostosis	OMIM:302905
Three M Syndrome 3	Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Prominent calcaneus, Joint hype...	OMIM:614205
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Char Syndrome	Clinodactyly of the 5th finger, Distal/middle symphalangism of 5th finger	OMIM:169100
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ...	OMIM:300845
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th...	OMIM:259700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Talipes equinovarus	OMIM:618845
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Osteoporosis, Short f...	ORPHA:3409
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Temple-Baraitser Syndrome	Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pseudoepiphysis of the th...	OMIM:611816
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Humeroradial synostosis, Hypoplasi...	ORPHA:3404
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger	ORPHA:2013
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ...	OMIM:166210
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Hypoplastic pub...	ORPHA:1865
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ankle clonus, Hypoplasia of the ulna, Large for gestational age	OMIM:615398
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly...	ORPHA:1507
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,...	ORPHA:95699
Qazi-Markouizos Syndrome	Dysharmonic bone age, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Prominent metopic ridge, Rhizomelia, Craniosynostosis, Micrognathia, Phalangeal cone-shaped epiph...	OMIM:266920
Fetal Encasement Syndrome	Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Symphalangism of the 5th ...	ORPHA:46627
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab...	ORPHA:3130
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Small for gestational age, Aplasia/Hypoplasia of ...	ORPHA:2909
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Short thumb, Broad hallux, Brachydactyly	OMIM:165800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Micromelia	ORPHA:64755
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ...	ORPHA:192
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, T...	ORPHA:2614
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol...	ORPHA:221016
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Short foot, Clinodactyly, Joint hypermobility	ORPHA:254531
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormality of the lower limb, Hypoplasia of the r...	ORPHA:245
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Wiedemann-Steiner Syndrome	Pes planus, Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of the ...	OMIM:605130
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flatt...	ORPHA:163649
Xylt1-Cdg	Joint dislocation, Pes planus, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared ...	ORPHA:370930
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger	OMIM:309620
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Amelia	OMIM:601163
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Radioulnar synostosis, Short middle phalanx of the 4th finger, Limited prona...	OMIM:616738
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Shashi-Pena Syndrome	Short metacarpal, Accelerated skeletal maturation, Osteoporosis, Deep palmar crease, Cervical C2/...	OMIM:617190
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
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
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo...	OMIM:184250
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery...	OMIM:619339
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Broad fingertip, Small hand, Short m...	ORPHA:2896
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thum...	ORPHA:2994
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed skeletal maturation, Small hand, Shor...	ORPHA:93324
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Enlarged interphalangeal joints, Abnormality of the knee, Narrow small joints...	ORPHA:1159
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn...	ORPHA:392
Joubert Syndrome 33	Syndactyly	OMIM:617767
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv...	ORPHA:88630
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossifi...	OMIM:156550
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Failure to thriv...	ORPHA:2107
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r...	ORPHA:2021
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho...	ORPHA:93352
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Three M Syndrome 2	Scapular winging, Delayed skeletal maturation, Slender long bone, Short 5th finger, Prominent cal...	OMIM:612921
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Rothmund-Thomson Syndrome Type 1	Osteopenia, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Delayed skeletal mat...	ORPHA:221008
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos...	OMIM:304150
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Absent palmar crease	OMIM:614230
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of...	ORPHA:444002
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ...	OMIM:157800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Glutamine Deficiency, Congenital	Micromelia, Camptodactyly	OMIM:610015
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Small for gestational...	OMIM:616229
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap...	OMIM:609638
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus	OMIM:224410
Schisis Association	Micromelia	ORPHA:63862
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Delayed skeletal maturation, Rhizo-meso-acromel...	ORPHA:163654
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Alpha-Mannosidosis	Bowing of the long bones, Delayed skeletal maturation, Avascular necrosis, Arthritis, Hip dysplas...	ORPHA:61
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Histidinuria Due To A Renal Tubular Defect	Short middle phalanx of finger, Rounded middle phalanx of finger	OMIM:235830
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a...	OMIM:613805
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Acrogeria	Short foot, Joint hyperflexibility, Small hand, Micrognathia	ORPHA:2500
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Histidinuria-Renal Tubular Defect Syndrome	Short middle phalanx of finger, Rounded middle phalanx of finger	ORPHA:2158
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility	ORPHA:2058
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Short femur, Genu valgum	OMIM:617798
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Short distal phalanx of finger	OMIM:302950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Failure to thrive, Short femur, Polydactyly	ORPHA:17
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Abnormal epiphysis morphology, Massively thickened long bon...	ORPHA:1798
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin...	ORPHA:84
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Delayed skeletal maturation, Short foot, Short p...	ORPHA:264200
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Temtamy Syndrome	Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1777
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Short ribs, Metaphyseal cupping, Short lower limbs	OMIM:241500
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bo...	OMIM:608612
Camurati-Engelmann Disease	Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thicke...	OMIM:131300
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Nail-Patella Syndrome	Pes planus, Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar apl...	OMIM:161200
Penoscrotal Transposition	Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia, Bilateral single transverse palma...	ORPHA:2842
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
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly	OMIM:244600
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod...	OMIM:300590
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h...	OMIM:181405
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Dela...	OMIM:271510
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Recurrent mandibular subluxa...	OMIM:225410
Rhyns Syndrome	Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo...	OMIM:602152
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxa...	ORPHA:444077
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Flexion contracture, Talipes equinovarus,...	ORPHA:562528
Fanconi Anemia, Complementation Group P	Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius	OMIM:613951
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatarsus a...	OMIM:121050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyse...	OMIM:618476
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla...	OMIM:311900
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mesomelia, Rhizomelia, Broad thumb, Brachydactyly	ORPHA:171866
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Large for gestational age, Tibial bowing, Hypoplas...	ORPHA:96334
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum	ORPHA:1295
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly	ORPHA:921
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Single transverse palmar crease, Adducted thumb	OMIM:620062
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplastic iliac wing,...	ORPHA:2637
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
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
Genitopatellar Syndrome	Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radi...	ORPHA:85201
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger	OMIM:601355
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Broad hallux, Micrognathia, Generalized joint laxity, Small ...	ORPHA:251028
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Decreased body weight, Short 1st metacarpal	OMIM:609053
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Pes planus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu re...	ORPHA:230851
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Small hand, Short foot, ...	OMIM:244460
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ul...	ORPHA:2876
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly	OMIM:617157
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Silver-Russell Syndrome	Sandal gap, Micrognathia, Lower limb asymmetry, Delayed skeletal maturation, Upper limb asymmetry...	ORPHA:813
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab...	ORPHA:85408
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Frank-Ter Haar Syndrome	Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Flared metaphysis, Hip d...	OMIM:249420
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ...	ORPHA:3041
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Pes planus, Joint dislocation, Osteopenia, Arachnodactyly, Sandal gap, Phalangeal ...	ORPHA:536532
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Nicolaides-Baraitser Syndrome	Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal epiphysis morpholo...	ORPHA:3051
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral...	ORPHA:1772
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Micrognathia, Absent frontal sinuses, Osteoporosis, Osteolytic defects ...	OMIM:102500
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger	ORPHA:181
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Delayed skeletal maturation, Patellar aplasia, Slender long bone	OMIM:613804
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Spina bifida, Abnormal t...	ORPHA:1120
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Ulnar deviation of finger, Genu valgu...	ORPHA:949
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys...	ORPHA:1782
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty...	OMIM:224690
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Myelomeningocele, Short distal phalanx of finger	ORPHA:1914
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi...	OMIM:136760
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Spina bifida, Palmar pits, Plantar pits, Irregular ossi...	OMIM:109400
Senior-Loken Syndrome 9	Hypogonadism, Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Flexion contracture, Short long ...	OMIM:263210
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare...	OMIM:224300
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly...	OMIM:146510
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
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Bone pain, Osteolytic defects of the phalang...	OMIM:161700
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb	ORPHA:1794
Cranioectodermal Dysplasia 4	Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Broad distal phalanx of fi...	OMIM:614378
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna...	OMIM:268300
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Hypoplastic iliac wing, Generalized ost...	ORPHA:763
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac...	OMIM:619451
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi...	OMIM:261540
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o...	ORPHA:93259
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, Cone-shaped epiphyses of the...	ORPHA:2484
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, Hypoplastic i...	ORPHA:93315
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Failure to thrive, Short femur, Small for gestational age, Micrognathia,...	OMIM:264090
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Lower limb asymmetry, Cryptorchidism, Abnormal femur morph...	ORPHA:2063
Meier-Gorlin Syndrome 2	Micrognathia, Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tr...	OMIM:613800
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F...	OMIM:252100
Spastic Paraplegia 9A, Autosomal Dominant	Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypop...	OMIM:601162
Autoimmune Hypoparathyroidism	Increased bone mineral density, Confusion, Depression, Irritability, Laryngeal dystonia	ORPHA:36913
Microcephaly 13, Primary, Autosomal Recessive	Metaphyseal sclerosis, Small hand, Short foot, Micrognathia	OMIM:616051
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa vara, Short femoral n...	ORPHA:2848
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Ataxia, Splenomegaly, Osteolysis, Increased suscept...	ORPHA:77261
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr...	OMIM:610442
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Fanconi Anemia, Complementation Group F	Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Failu...	OMIM:603467
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Hip dis...	ORPHA:99776
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis	OMIM:617306
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Abnormal foot morphology, Short distal phalanx of finger	OMIM:609166
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius	ORPHA:2476
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally ossi...	ORPHA:800
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cryptorchidism, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx o...	OMIM:616894
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
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Talipes, Single transverse palmar crease, Limb undergrowth, Pes cavus	ORPHA:79243
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Diaphyse...	ORPHA:94089
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Erythrokeratodermia Variabilis	Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
8Q24.3 Microdeletion Syndrome	Long toe, Microretrognathia, Pes planus, Congenital hip dislocation, Short femur, Rocker bottom f...	ORPHA:508488
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t...	ORPHA:79322
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb	ORPHA:87
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Hammertoe, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:275900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Broad long bon...	OMIM:614376
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact...	OMIM:615547
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost...	ORPHA:2780
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Small for gestational age, Proximal placement of thumb, Talipes eq...	OMIM:615789
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora...	ORPHA:1708
Acromelic Frontonasal Dysplasia	Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo...	ORPHA:1827
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to...	ORPHA:1327
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic...	OMIM:616331
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tap...	OMIM:619841
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Cognitive impairment, Lymphopenia	ORPHA:100
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd...	OMIM:151050
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long ...	ORPHA:73230
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal...	OMIM:236500
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro...	ORPHA:2636
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi...	OMIM:122470
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia, Joint hyper...	OMIM:620210
Luscan-Lumish Syndrome	Long foot, Advanced ossification of carpal bones	OMIM:616831
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger	OMIM:239300
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joint contracture o...	OMIM:612513
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Laron Syndrome	Short toe, Abnormality of the elbow, Micrognathia, Brachydactyly	ORPHA:633
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Failure to thrive, Limb undergrowth, Coxa valga	OMIM:230600
Alagille Syndrome 1	Hypoplasia of the ulna, Failure to thrive, Short distal phalanx of finger	OMIM:118450
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly...	OMIM:200110
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Mi...	ORPHA:2886
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Abnormality of t...	ORPHA:521445
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphy...	OMIM:300232
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Pes planus, Congenital hip dislocation, Joint hypermobility, Tapered finger, Microgna...	OMIM:616007
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Prominent calcaneus, Congenital foot contractures	ORPHA:565624
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation	OMIM:616507
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping finge...	OMIM:617022
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation, Flattened epiphysis,...	OMIM:183900
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac...	OMIM:602531
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head	ORPHA:401935
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran...	OMIM:303600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Single transverse palmar crease, Broad femoral neck, Micrognathia, Failure to thrive ...	OMIM:611209
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronc...	OMIM:619184
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Limitation of joint mobility, Narrow pel...	ORPHA:96061
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Osteolysis, Abnormal epiphysis morphology,...	ORPHA:35687
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas...	ORPHA:3003
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Osteopetrosis, Dystonia, Th...	ORPHA:3240
Kagami-Ogata Syndrome	Limb undergrowth, Long fingers, Micrognathia, Coxa valga	OMIM:608149
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Clubbi...	ORPHA:33364
Holzgreve Syndrome	Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2167
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Long hallux, Brachydactyly	OMIM:259775
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynosto...	ORPHA:2095
Lujan-Fryns Syndrome	Micrognathia, Arachnodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:776
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Abnormality of the spleen, Osteopoikilosis, Tremor	ORPHA:94063
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, F...	OMIM:252500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Brachydactyly	ORPHA:3085
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head	ORPHA:2975
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:1563
Desmosterolosis	Metatarsus adductus, Micromelia, Micrognathia	ORPHA:35107
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho...	OMIM:269860
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hyp...	ORPHA:3455
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ...	OMIM:265800
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Palmoplantar keratoderma, Short ...	ORPHA:2908
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ata...	ORPHA:355
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Osteoglosphonic Dysplasia	Micrognathia, Rhizomelia, Brachydactyly	ORPHA:2645
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Decreased patellar reflex, Equinovarus deformity, Equinus calcaneus	ORPHA:746
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly of finger, Abnormal metacarpal morph...	ORPHA:137834
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	OMIM:616354
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly	OMIM:614592
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Joint st...	ORPHA:83
Jansen-De Vries Syndrome	Short foot, Small hand, Brachydactyly	OMIM:617450
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ge...	OMIM:620072
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Gm1 Gangliosidosis	Camptodactyly of finger, Weight loss, Abnormal diaphysis morphology, Abnormal epiphysis morpholog...	ORPHA:354
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th...	OMIM:618914
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Irregular menstruation, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis ...	OMIM:616482
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Hypoplasia ...	OMIM:305400
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly	ORPHA:3306
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Micromelia	OMIM:200995
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Temtamy Syndrome	Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly	OMIM:218340
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Avascular necrosis of the cap...	ORPHA:2044
Charge Syndrome	Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Abnormal palmar de...	OMIM:214800
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Small hand, Short foot, Brachydactyly	OMIM:300354
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Delayed skeletal maturation, Patellar aplasia, Hip dysplasia, Shor...	OMIM:616835
Coffin-Siris Syndrome 6	Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Humeroradial Synostosis	Humeroradial synostosis	OMIM:236400
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis	ORPHA:902
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Thrombocytopenia, Neutropenia, Abnormal T cell morpholog...	OMIM:242900
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Limb undergrowth, Short distal phala...	ORPHA:1855
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Failure to thrive, Hip dislocation	OMIM:618005
Ring Chromosome 12 Syndrome	Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb	ORPHA:1439
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Small hand, Clin...	ORPHA:94065
Neu-Laxova Syndrome	Large hands, Micromelia, Micrognathia	ORPHA:2671
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly	OMIM:618381
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ...	ORPHA:50815
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Brachydactyly	OMIM:618265
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty...	OMIM:614188
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Patellar aplasia, Patellar hypoplasia, ...	ORPHA:495818
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca...	OMIM:256520
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Brachydactyly	ORPHA:2701
Recombinant 8 Syndrome	Camptodactyly of finger, Micrognathia, Patellar aplasia, Deep plantar creases, Clinodactyly of th...	ORPHA:96167
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Talipes equinovarus, Neutropenia, Lymphopenia, Reduced nat...	OMIM:619752
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal shortening of ...	ORPHA:488434
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of...	OMIM:610682
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Single transverse palmar crease, Osteopetrosis	OMIM:618541
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Large hands, Abnormal metacarpal mor...	ORPHA:3219
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:1770
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:502
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Smith-Lemli-Opitz Syndrome	Microretrognathia, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus,...	OMIM:270400
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ...	ORPHA:1786
Tonne-Kalscheuer Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:300978
Coffin-Siris Syndrome 2	Brachydactyly, Sandal gap, Short distal phalanx of finger	OMIM:614607
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Smith-Magenis Syndrome	Brachydactyly, Broad palm, Abnormal forearm morphology, Short palm	OMIM:182290
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent...	OMIM:227650
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation	ORPHA:3412
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Flattened femoral head, Acetabu...	ORPHA:79255
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, De...	ORPHA:2554
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Bilateral single transverse palmar creases	ORPHA:1116
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull...	OMIM:127000
Diamond-Blackfan Anemia 1	11 pairs of ribs, Failure to thrive, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplica...	OMIM:105650
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Truncal obesity, Limb undergrowth, Clinodactyly, Pes cavus	OMIM:616541
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa...	OMIM:150230
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Microgna...	ORPHA:1452
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus...	OMIM:606170
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent radius, Short thu...	OMIM:600901
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of...	ORPHA:261323
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p...	OMIM:250250
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxi...	ORPHA:443811
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolytic defe...	ORPHA:90154
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ...	OMIM:617061
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Bifid femur, Aplasia/hypoplasia of the femur,...	ORPHA:2769
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Dysmetria, Knee flexion contracture, Bilateral talipes equinovarus, Dyst...	OMIM:619708
Sneddon Syndrome	Mental deterioration, Lymphopenia, Tremor	OMIM:182410
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases	ORPHA:2083
Gorlin Syndrome	Palmar pits, Arachnodactyly, Brachydactyly	ORPHA:377
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Fractures of...	ORPHA:666
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Slc39A8-Cdg	Failure to thrive in infancy, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Lymphopenia, 2-3 toe syndactyly	ORPHA:391307
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th...	ORPHA:881
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Microcephaly-Capillary Malformation Syndrome	Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Feingold Syndrome Type 1	Toe syndactyly, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, 4-5 toe syndac...	ORPHA:391641
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Marfan Syndrome	Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re...	OMIM:154700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short foot, Small hand, Patchy osteosclerosis, Short palm	OMIM:241410
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
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
Kid Syndrome	Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla...	ORPHA:477
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi...	ORPHA:672
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Clinodactyly of the ...	ORPHA:2916
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi...	ORPHA:2750
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Cryptorchidism, 2-3 toe syndactyly, Broad finger, Limb undergrowth, ...	ORPHA:488632
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo...	ORPHA:1308
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Micrognathia, Crypt...	OMIM:180700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Short foot, Large hands, Talipes equinovarus, Cubitus valgus, Short distal phalanx ...	OMIM:300534
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetos...	OMIM:208900
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Brachydactyly	OMIM:602361
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Craniosynostosis 2	Triphalangeal thumb, Brachydactyly	OMIM:604757
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Limb undergrowth, Talipes equinovarus	OMIM:619124
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Brachydactyly	OMIM:618027
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os...	ORPHA:565
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Keutel Syndrome	Calcification of cartilage, Short distal phalanx of finger	ORPHA:85202
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec...	ORPHA:760
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Micrognathia, Osteoporosis, P...	OMIM:601812
Desmosterolosis	Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogryposis multiplex c...	OMIM:602398
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo...	ORPHA:667
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Clinodactyly, Brachydactyly	OMIM:217980
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl...	ORPHA:2754
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Short toe, Limitation of joint mobility, 2-3 ...	OMIM:139210
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Autoimmune thrombocytopenia, Metaphyseal sclerosis, Short iliac bones, Met...	OMIM:607944
Mirage Syndrome	Rocker bottom foot, Radial club hand, Thrombocytopenia, Leukopenia, Talipes equinovarus, Overlapp...	OMIM:617053
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Robinow Syndrome	Syndactyly, Small for gestational age, Bifid distal phalanx of the thumb, Micrognathia, Missing r...	ORPHA:97360
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:819
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Small for gestational age, Broad palm, Limb undergrowth, Failure to thrive	ORPHA:99843
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Alg12-Cdg	Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, Long fingers...	ORPHA:79324
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
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly	OMIM:619123
3C Syndrome	Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br...	ORPHA:7
Sanjad-Sakati Syndrome	Short foot, Small hand, Patchy osteosclerosis	ORPHA:2323
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Aplastic clavicle, Micrognathia, Delayed skeletal maturation, Coronal craniosy...	ORPHA:85199
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ...	OMIM:613179
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Short clavicles, Steep acetabular roof, Inc...	ORPHA:313855
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Cryptorchidism, Mesomelia, Fai...	OMIM:613457
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	ORPHA:397709
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing...	OMIM:211380
Rin2 Syndrome	Brachydactyly	ORPHA:217335
Acrofacial Dysostosis, Cincinnati Type	Femoral bowing, Acetabular dysplasia, Flared lower limb metaphysis, Micrognathia	OMIM:616462
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova...	ORPHA:1358
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Brachydactyly	ORPHA:2075
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Radio-Tartaglia Syndrome	Brachydactyly, Micrognathia, Tapered finger	OMIM:619312
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachydactyly	OMIM:619995
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,...	OMIM:269150
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Renal-Hepatic-Pancreatic Dysplasia 2	Talipes equinovarus, Femoral bowing	OMIM:615415
Trisomy 8Q	Deep palmar crease, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:1752
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finger, Congenital ...	OMIM:304110
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Adult-Onset Still Disease	Cartilage destruction, Joint swelling, Arthritis	ORPHA:829
Cloacal Exstrophy	Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology, Talipes equi...	ORPHA:93929
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P...	OMIM:236700
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Frontorhiny	Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Proteasome-Associated Autoinflammatory Syndrome 3	Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, Finger swelling, Lymphopenia, Anemia	OMIM:617591
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m...	ORPHA:79474
Williams Syndrome	Osteopenia, Tremor, Dysmetria, Clinodactyly of the 5th finger, Joint laxity, Increased bone miner...	ORPHA:904
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Craniofacioskeletal Syndrome	Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinodactyly of th...	OMIM:300712
Cog1-Cdg	Rhizomelia, Micrognathia, Coxa valga, Flat acetabular roof, Short long bone, Talipes equinovarus,...	ORPHA:263508
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Large hands,...	ORPHA:500095
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Brachydactyly	OMIM:610253
Down Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Sandal gap, Bilateral single transverse palmar cre...	ORPHA:870
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty...	ORPHA:363958
Kabuki Syndrome 2	Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Cinca Syndrome	Brachydactyly	ORPHA:1451
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Brachydactyly	ORPHA:457193
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Micrognathia, Preaxial hand polydactyly, Abnormal hip...	ORPHA:261318
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg...	ORPHA:235
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Structural foot deformi...	ORPHA:464306
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Cryptorchidism, Postaxi...	ORPHA:818
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Narrow greater sciatic notch, Short palm, Short greater sciatic ...	OMIM:312870
Weill-Marchesani Syndrome 1	Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly	OMIM:277600
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Alg9-Cdg	Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Micrognathia...	ORPHA:79328
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Micrognathia, Short distal phalanx of finger	ORPHA:2959
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing...	ORPHA:1974
Macs Syndrome	Micrognathia, Single transverse palmar crease, Brachydactyly	OMIM:613075
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Pes planus, Joint laxity, Synostosis involving the 1st metacarpal, Clinodactyly of...	ORPHA:466791
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia	ORPHA:319218
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus, Clinodactyl...	ORPHA:177907
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
White-Sutton Syndrome	Micrognathia, Broad thumb, Hypoplastic cervical vertebrae, Brachydactyly	OMIM:616364
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Clinodactyly of the 5th finger, Clino...	ORPHA:96182
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Micro...	DECIPHER:81
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling	ORPHA:29207
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Polydactyly, Short ribs, Mesome...	OMIM:613610
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn...	OMIM:601803
Myhre Syndrome	Brachydactyly, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abnormal metaphysis m...	ORPHA:2588
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A...	ORPHA:2785
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Brac...	OMIM:617062
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v...	OMIM:614976
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ...	OMIM:618050
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty...	OMIM:311200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus, Camptodac...	OMIM:280000
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture...	OMIM:619777
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly	ORPHA:847
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br...	ORPHA:364577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot...	ORPHA:280633
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla...	ORPHA:1521
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse...	ORPHA:955
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Tapered finger, Micrognathia, Small hand, Short foot, Camptodactyly, Clinodactyl...	OMIM:309590
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Brachydactyly, Single transverse palmar crease, Short palm	ORPHA:466950
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology, Osteochondrosis, Osteolysis	ORPHA:2396
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla...	ORPHA:306542
Chops Syndrome	Brachydactyly	OMIM:616368
Arboleda-Tham Syndrome	Microretrognathia, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, 3-4 finger c...	OMIM:616268
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce...	OMIM:219000
Jacobsen Syndrome	Clinodactyly of the 5th finger, Micrognathia, Missing ribs, Brachydactyly	OMIM:147791
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Myelomeningocele, Short long ...	OMIM:306955
Mgat2-Cdg	Brachydactyly	ORPHA:79329
Meester-Loeys Syndrome	Brachydactyly, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly	OMIM:300989
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Barber-Say Syndrome	Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly	OMIM:209885
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Brachydactyly, Single transverse palmar crease, Short palm	ORPHA:466943
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
Toriello-Carey Syndrome	Clinodactyly, Micrognathia, Brachydactyly	ORPHA:3338
Ayme-Gripp Syndrome	Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger	OMIM:601088
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Noonan Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Micrognathia, Brachydactyly	ORPHA:648
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly	ORPHA:1519
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261537
46,Xy Sex Reversal 4	Distal symphalangism	OMIM:154230
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Absent dist...	OMIM:610168
Witteveen-Kolk Syndrome	Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Holoprosencephaly	Hand polydactyly, Brachydactyly	ORPHA:2162
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pes planus, Recur...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261552
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Short foot, Hip dysplasia, Foot polydactyly, Clinodact...	ORPHA:1606
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tapered finger, Micrognathia, Genu valgum, Talipes equinovarus, Radial deviation of finger, Clino...	OMIM:309580
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Short foot, Hip dysplasia, Short ...	OMIM:607872
Noonan Syndrome 1	Micrognathia, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydactyly	OMIM:163950
Cowden Syndrome	Palmoplantar keratoderma, Brachydactyly	ORPHA:201
Charge Syndrome	Clinodactyly of the 5th finger, Abnormal tibia morphology, Bifid femur, Brachydactyly	ORPHA:138
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987

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 Gdf5

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 Gdf5.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Role of Bmp2 in the Maturation and Maintenance of the Murine Knee Joint.	Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (June 2018)	Gdf5^{tm1a(EUCOMM)Hmgu}	29665134

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MGI Allele	Allele Type	Produced
Gdf5^em2(IMPC)H	Indel	Mice
Gdf5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gdf5^em1(IMPC)Bay	Intra-exon deletion	Mice
Gdf5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gdf5^em1(IMPC)H	Indel	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gdf5 MGI:95688

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

Human diseases caused by Gdf5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data