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Gene: Gdf5 MGI:95688

Gene Summary

Name:

growth differentiation factor 5

Synonyms:

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

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
abnormal bone structure	Gdf5^em1(IMPC)Bay	HOM	Early adult	2.16×10^-09
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	1.53×10^-05
abnormal autopod morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
abnormal bone structure	Gdf5^em1(IMPC)H	HOM	Early adult	4.41×10^-07
decreased grip strength	Gdf5^em1(IMPC)Bay	HOM	Early adult	3.49×10^-38
abnormal gait	Gdf5^em1(IMPC)H	HOM	Early adult	5.71×10^-18
abnormal forelimb morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
decreased vertical activity	Gdf5^em1(IMPC)H	HOM	Early adult	4.39×10^-05
decreased leukocyte cell number	Gdf5^em1(IMPC)H	HOM	Early adult	8.06×10^-05
increased bone mineral density	Gdf5^em1(IMPC)H	HOM	Early adult	5.11×10^-05
decreased lymphocyte cell number	Gdf5^em1(IMPC)H	HOM	Early adult	1.56×10^-05
abnormal hindlimb morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
abnormal digit morphology	Gdf5^em1(IMPC)H	HOM	Early adult	1.10×10^-23
limb grasping	Gdf5^em1(IMPC)H	HOM	Early adult	1.91×10^-08

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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 left eye

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

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 (1577 diseases)

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

Disease	Matching phenotypes	Source
Symphalangism, Proximal, 1B	Proximal/middle symphalangism of 5th finger, Pes planus, Abnormal finger flexion crease, Short 2n...	OMIM:615298
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed skeletal maturat...	ORPHA:63442

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

Disease	Matching phenotypes	Source
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Brachydactyly, Type A1, D	Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ab...	OMIM:616849
Symphalangism, Proximal, 1B	Proximal/middle symphalangism of 5th finger, Pes planus, Abnormal finger flexion crease, Short 2n...	OMIM:615298
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Wahab Syndrome	Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal...	OMIM:615170
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay	Unusual dermatoglyphics, Metatarsus adductus	OMIM:112370
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Metachondromatosis	Abnormal epiphysis morphology, Multiple enchondromatosis, Abnormal metaphysis morphology, Avascul...	ORPHA:2499
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Li...	ORPHA:93351
Distal Symphalangism	Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C...	ORPHA:3248
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Limited elbow extens...	OMIM:271650
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ...	ORPHA:79445
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Brachydactyly	ORPHA:3314
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta...	ORPHA:1278
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Blount Disease, Infantile	Abnormality of the proximal tibial epiphysis, Genu varum	OMIM:188700
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Brachydactyly, Type A4	Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle...	OMIM:112800
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Upington Disease	Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head	OMIM:191520
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea...	OMIM:164900
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Metatarsus Varus, Type I	Metatarsus adductus	OMIM:156520
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal maturation, Short long...	OMIM:102370
Exostoses, Multiple, Type Ii	Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exo...	OMIM:133701
Exostoses, Multiple, Type I	Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exo...	OMIM:133700
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co...	OMIM:151200
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f...	OMIM:180870
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi...	OMIM:185900
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Steel Syndrome	Carpal synostosis, Pes cavus, Limited elbow extension, Pes planus, Coxa vara, Clinodactyly of the...	OMIM:615155
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Elbow ankylosi...	ORPHA:3266
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged interphalangeal joi...	OMIM:615222
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
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	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl...	ORPHA:2249
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone miner...	OMIM:617974
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
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 pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly	OMIM:233270
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
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
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Talipes equinovarus, Narrow il...	OMIM:616716
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Congenital Vertical Talus	Abnormality of the foot musculature, Myelomeningocele, Ankle pain, Equinus calcaneus, Pes valgus,...	ORPHA:178382
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger	ORPHA:1471
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn...	ORPHA:2496
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit	ORPHA:228190
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Short palm, Coxa vara	ORPHA:168555
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Joint hypermobility, Large hands, Tapered finger	OMIM:102150
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Delayed skeletal ma...	ORPHA:969
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia	OMIM:277150
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb, Delayed skeletal maturation	ORPHA:2489
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle, Carpal synostosis	ORPHA:2010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Delayed skeletal maturatio...	OMIM:190351
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Short foot	OMIM:300261
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa...	OMIM:277950
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Legg-Calvé-Perthes Disease	Delayed skeletal maturation, Joint dislocation, Cartilage destruction, Avascular necrosis	ORPHA:2380
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ...	OMIM:618435
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Reduced arm span, Arthralgia...	ORPHA:166002
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh...	OMIM:614613
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Pseudopseudohypoparathyroidism	Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:612463
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me...	OMIM:600705
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Ankle pain,...	ORPHA:93308
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ...	ORPHA:973
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb	ORPHA:435804
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,...	OMIM:184255
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea...	ORPHA:174
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, 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
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	OMIM:612916
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Talonavicular Coalition	Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge...	OMIM:186750
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of...	OMIM:216100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Metaphyseal dysp...	OMIM:156510
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm...	OMIM:249710
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Enchondromatosis, Multiple, Ollier Type	Multiple enchondromatosis, Abnormal long bone morphology	OMIM:166000
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio...	OMIM:602849
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, Delayed skeletal maturation, 11 pairs of ribs, Patellar aplasia, Radioulnar ...	OMIM:617604
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Small epiphyses...	OMIM:184260
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes planus, Hypoplasia of the ulna,...	OMIM:618395
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,...	ORPHA:896
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif...	ORPHA:1263
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Bowing of the legs, Apl...	ORPHA:2502
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou...	OMIM:148820
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Brachydactyly, Short palm	ORPHA:3238
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Pes planus, Pes cavus, Tapered finger	OMIM:309585
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,...	ORPHA:2557
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly, Decreased body weight	ORPHA:357175
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional...	ORPHA:566943
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot	OMIM:300577
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta...	OMIM:163400
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone	ORPHA:1423
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma...	ORPHA:2633
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
2q37 monosomy	Brachydactyly	DECIPHER:44
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Czech Dysplasia	Limitation of joint mobility, Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa ...	OMIM:609162
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly, Decreased body weight	OMIM:615162
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca...	OMIM:601356
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Clinodactyly of the 5th fi...	ORPHA:3268
Acromesomelic Dysplasia 4	Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t...	OMIM:619636
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Tetrasomy X	Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th...	ORPHA:9
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly	OMIM:241000
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed skeletal maturat...	ORPHA:63442
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Laron Syndrome	Delayed menarche, Limb undergrowth, Short long bone	OMIM:262500
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ...	OMIM:620662
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Shox-Related Short Stature	Obesity, Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deform...	ORPHA:314795
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Metatarsu...	OMIM:158300
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Generalized morning stiffness, Wrist flexion contractur...	OMIM:208250
Orofaciodigital Syndrome X	Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly	OMIM:165590
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Otoonychoperoneal Syndrome	Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra...	OMIM:259780
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C...	ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly o...	OMIM:612350
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly of finger, Short 4th ...	ORPHA:3201
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femoral bowing, Short...	OMIM:619638
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Micrognath...	OMIM:211350
Roifman-Chitayat Syndrome	Osteopenia, Cone-shaped epiphysis, Umbilical hernia, Arthritis, Short metatarsal, Short metacarpal	OMIM:613328
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Short femoral neck, Brachydactyly, Delayed ossification of carpal b...	OMIM:618392
Seckel Syndrome 7	Delayed skeletal maturation, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, S...	OMIM:614851
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia...	ORPHA:3320
Spondylometaphyseal Dysplasia, Type A4	Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic...	OMIM:609052
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra...	ORPHA:83468
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum, Joint hyp...	OMIM:614134
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly	ORPHA:294975
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Limitation of joint mobility, Ectopic ossification in ligament tissue, Abno...	ORPHA:337
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod...	ORPHA:3104
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Failure to thrive, Short humerus, Brachydactyly, Short lower...	ORPHA:420794
Variegate Porphyria, Childhood-Onset	Short metacarpal, Delayed skeletal maturation, Short finger	OMIM:620483
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation	ORPHA:1508
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul...	OMIM:212780
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap...	OMIM:108720
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Marinesco-Sjogren Syndrome	Cubitus valgus, Pes planus, Short metatarsal, Flexion contracture, Short metacarpal, Coxa valga	OMIM:248800
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Short toe,...	ORPHA:2619
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Delayed skeletal maturation, Reduced bone mineral density, Bowing ...	ORPHA:2501
Chst3-Related Skeletal Dysplasia	Rhizomelia, Irregular epiphyses, Small epiphyses, Genu valgum, Cubitus valgus, Brachydactyly, Fle...	ORPHA:263463
Kyphomelic Dysplasia	Micromelia, Micrognathia, Missing ribs, Bowing of the long bones, Large hands, Flat acetabular ro...	ORPHA:1801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi...	ORPHA:1826
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	OMIM:615198
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal synostosis, Dysplas...	OMIM:615349
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Brachydactyly	ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Small epiphyses, Overla...	OMIM:616723
Cooks Syndrome	Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand	ORPHA:1487
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Abnormal j...	ORPHA:1427
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the...	OMIM:614900
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Rhizo-meso-a...	OMIM:611717
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, H...	OMIM:619135
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irregular acetabula...	OMIM:184252
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Arthrogryposis multipl...	OMIM:108120
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	ORPHA:217017
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle...	ORPHA:324442
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly	OMIM:176305
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short metatarsal...	OMIM:103580
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Wormian bones, Brachydactyly	ORPHA:2787
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Aplasia/hypoplasia of the extremities, ...	OMIM:146000
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Limitation of j...	OMIM:607326
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t...	ORPHA:246
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:2631
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
W Syndrome	Clinodactyly, Radial bowing, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia...	ORPHA:2804
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Radial head subluxation, Advanced ossi...	OMIM:615777
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno...	ORPHA:1837
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,...	OMIM:272460
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal	OMIM:600430
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Rhizomelia, ...	OMIM:228520
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Cohen Syndrome	Genu valgum, Micrognathia, Single transverse palmar crease, Narrow palm, Joint hypermobility, Cub...	OMIM:216550
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly of finger, Ulnar deviation ...	OMIM:601680
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Ataxia, Dementia, Osteoporosis, Incr...	OMIM:136300
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Short humerus, Short ribs, Talipes equino...	OMIM:607143
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Lower limb pain, Joint hypermobility, 2-3 toe s...	OMIM:261990
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,...	OMIM:618853
Humero-Radial Synostosis	Limitation of joint mobility, Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of ...	ORPHA:3265
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral e...	OMIM:166300
Hip Dysplasia, Beukes Type	Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Clinodactyly, Delayed skel...	OMIM:190350
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Joint stiffness, B...	ORPHA:1005
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Brachydactyly, Short phalanx of finger, Broad finger	OMIM:614684
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Carpal synostosis, Elbow flexion contracture, Elbow contracture, Cutaneous f...	OMIM:178110
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac...	ORPHA:1927
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro...	OMIM:222765
Intellectual Developmental Disorder, X-Linked 9	Short distal phalanx of finger	OMIM:309549
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Enl...	OMIM:215150
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia...	ORPHA:140
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Hypo...	OMIM:614813
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Slender long bone, Delayed skeletal maturation, Micrognathia, Joint h...	OMIM:170390
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Broad foot, Short ri...	OMIM:250420
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Short metatarsal, Brachydactyly, Short metacarpal	OMIM:612462
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper...	OMIM:620269
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus	ORPHA:2183
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Limb undergro...	ORPHA:1803
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasia of the odonto...	OMIM:226980
49,Xyyyy Syndrome	Short 5th finger, Lower limb asymmetry, Finger clinodactyly, Delayed skeletal maturation, Bridged...	ORPHA:99330
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Hypoplastic pelvis...	ORPHA:2616
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol...	ORPHA:1597
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly o...	ORPHA:376
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Image Syndrome	Micromelia, Metaphyseal dysplasia	ORPHA:85173
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporefle...	OMIM:162370
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Microg...	ORPHA:958
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Roifman Syndrome	Short toe, Irregular femoral epiphysis, Hip contracture, Single transverse palmar crease, Short d...	OMIM:616651
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads	OMIM:271600
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone...	ORPHA:1422
Multiple Synostoses Syndrome 4	Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis	OMIM:617898
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, Short foo...	OMIM:166250
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Elbow dislocation, Micrognathia, Abnormal femur morphology, Abnormal morp...	ORPHA:93329
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Osteopenia, Delayed skeletal maturation, Genu valgum, Cu...	OMIM:608154
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Short ribs, Brachydactyly, Postaxial hand polydacty...	OMIM:617405
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Short ribs, Squared il...	OMIM:215045
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger, Irregular epiphyses, Gen...	OMIM:222600
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgu...	OMIM:615632
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Elbow dislocation, Short f...	ORPHA:628
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl...	ORPHA:1352
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Atelosteogenesis Type I	Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ...	ORPHA:1190
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Limited hip movement, S...	ORPHA:93346
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalacia, Accessory carpal bones, Knee d...	OMIM:150250
Eng-Strom Syndrome	Brachydactyly, Camptodactyly of finger	ORPHA:1937
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Delayed skeletal maturation, Micr...	ORPHA:2980
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Split-Foot Deformity With Mandibulofacial Dysostosis	Micrognathia, Toe syndactyly, Split hand, Split foot	OMIM:183700
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
20Q11.2 Microdeletion Syndrome	Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly	ORPHA:444051
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Small hand, Short foot, Arthrogryposis multiplex congenita	OMIM:615282
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Wide distal femoral metaphysis...	ORPHA:99642
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Synostosis of carpal bones, Bilateral single transverse palmar creases	ORPHA:3191
Panner Disease	Limited elbow extension, Abnormality of upper limb joint, Limited elbow movement, Irregular artic...	ORPHA:97336
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen...	OMIM:225500
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Micromelia, Bowing of the long bones, Short palm, Abno...	ORPHA:166272
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Abnormality of the elbow	ORPHA:2220
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Short 4th metacarpal	OMIM:606220
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecularization, Camptodactyly o...	ORPHA:2635
Cri-Du-Chat Syndrome	Microretrognathia, Single transverse palmar crease, Pes planus, Metatarsus adductus, Short metata...	OMIM:123450
Tibial Hemimelia	Absent tibia	OMIM:275220
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal stippling, Hypoplasti...	OMIM:101800
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo...	ORPHA:94068
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis...	OMIM:231095
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Lim...	OMIM:258315
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Microcephalic Primordial Dwarfism, Dauber Type	Delayed skeletal maturation, Madelung deformity, Limb undergrowth, Hip dysplasia, Clinodactyly of...	ORPHA:319675
Auriculoosteodysplasia	Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormality of the wrist, Abnormal metacarpa...	ORPHA:114
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn...	ORPHA:239
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Hip contracture,...	OMIM:618363
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla...	ORPHA:1147
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Cocaine Embryofetopathy	Short distal phalanx of finger	ORPHA:1911
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Talipes equinovarus, Small hand, Short foot, Hip dislocation	OMIM:300434
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyly of finger, Metaca...	ORPHA:2774
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Brachydactyly, Patellar hypoplasia	ORPHA:464288
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius	OMIM:314390
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Limb undergrowth, Adduct...	OMIM:616897
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Sillence Syndrome	Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ...	ORPHA:3168
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Abnormal fe...	ORPHA:1842
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p...	OMIM:618469
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Joint dislocation, Femoral bowing, Limited elb...	OMIM:618019
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Short ribs, Missing ...	OMIM:617866
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ...	OMIM:618658
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangea...	OMIM:124480
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Pentasomy X	Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Hip dysplasia, Clinodac...	ORPHA:11
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Pes cavus, ...	OMIM:169400
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh...	OMIM:600373
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Rhizomelia, Hypoplastic iliac wing, Fibular ...	OMIM:260660
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary ...	OMIM:200980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal...	ORPHA:2319
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing...	OMIM:608940
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility, Abnormal morphology of ulna, Abnormal metacarpal morp...	ORPHA:2233
Anauxetic Dysplasia 1	Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu...	OMIM:607095
Beta-Mercaptolactate Cysteine Disulfiduria	Arachnodactyly, Micromelia, Genu valgum, Sandal gap	ORPHA:1035
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot	DECIPHER:46
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Short 5th finger, Complete duplication of thumb phalanx, Shortening of all distal phalanges of th...	OMIM:106995
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Toe syndactyly, Elbow flexion contracture, Hip contracture, Knee flexion contracture, 2-3 toe syn...	OMIM:616809
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Fail...	ORPHA:356961
Dermatoosteolysis, Kirghizian Type	Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of...	ORPHA:1657
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Flared metaphysis, Cone-...	OMIM:309350
Desbuquois Syndrome	Genu recurvatum, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly of finger, Jo...	ORPHA:1425
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of ...	ORPHA:2900
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Flat acet...	OMIM:619345
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Tracheomalacia, Avascular necrosis o...	OMIM:212720
Xq27.3Q28 Duplication Syndrome	Small hand, Short foot, Delayed skeletal maturation	ORPHA:261483
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the...	OMIM:617895
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Pedal edema, Arthralgia of the hip, Metaphyseal spurs, Abnormal ...	ORPHA:166011
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Short ribs, Postaxial hand ...	OMIM:241800
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Abnormal metaphysis morphology, Flat capital femoral epiphysis, Flattened epi...	ORPHA:157965
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Overlapping toe, Narr...	OMIM:610954
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J...	ORPHA:1416
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Joint hypermobility, Metatarsus adductus, Clinodactyly of the 5th finger, Hip sublu...	OMIM:619180
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed proximal femor...	ORPHA:93296
Ring Chromosome 6 Syndrome	Short distal phalanx of finger	ORPHA:1448
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Micrognathia, P...	ORPHA:96148
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Achondroplasia	Rhizomelia, Hip joint hypermobility, Obesity, Limited elbow extension, Trident hand, Knee joint h...	ORPHA:15
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ...	OMIM:211750
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t...	OMIM:277170
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Failure to thrive, Micrognathia, Talipes equinovarus, Brachydactyly, S...	OMIM:612626
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, Joi...	OMIM:613848
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Camptodactyly, Short long bone	OMIM:619751
Dysspondyloenchondromatosis	Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Generalized joint hypermobility,...	ORPHA:85198
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad distal phalanx of the thumb, ...	OMIM:101200
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Abnormal foot morphology, Micrognathia, Radioulnar synos...	OMIM:263750
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi...	ORPHA:3429
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Van Maldergem Syndrome 1	Osteopenia, Clinodactyly, Tracheomalacia, Abnormal foot morphology, Cutaneous finger syndactyly, ...	OMIM:601390
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Obesity, Narrow palm, Hypogonadotropic hypogonadism, Short foot, Abnormal ulnar metap...	ORPHA:177910
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ...	ORPHA:210110
Oslam Syndrome	Radioulnar synostosis, Radial deviation of finger, Clinodactyly	OMIM:165660
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla...	ORPHA:2370
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Tracheomalacia, Umbilical hernia, Bilateral single...	ORPHA:1001
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Paget Disease Of Bone 5, Juvenile-Onset	Bowing of the long bones, Failure to thrive, Short humerus, Lateral femoral bowing	OMIM:239000
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multipl...	ORPHA:86822
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Genu valgum, Delayed ...	OMIM:620099
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Distal Duplication 5Q	Absent thumb, Micrognathia, Hypoplasia of the ulna, Hypoplasia of the radius, Brachydactyly	ORPHA:96097
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Wilson-Turner Syndrome	Small hand, Micrognathia, Pes cavus, Pes planus, Short foot, Tapered finger	ORPHA:3459
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den...	OMIM:616943
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Clinodactyly, Micrognathia, Acromicria, Short foot	ORPHA:254525
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Charlie M Syndrome	Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Triphalangeal thumb, Brachydacty...	ORPHA:1406
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v...	OMIM:618870
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Brachydactyly, Fused cervical vertebrae	ORPHA:1436
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger	OMIM:155050
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger	ORPHA:2776
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly of finger, Large ha...	ORPHA:3080
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Worm...	ORPHA:166277
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity	ORPHA:1765
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Talipes valgus, Overlapping toe, Clinoda...	ORPHA:221120
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of...	OMIM:613390
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dislocation, Sandal gap, Kn...	OMIM:108721
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies...	OMIM:258480
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing, Hip dysplasia	ORPHA:1858
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom...	ORPHA:2839
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i...	OMIM:135100
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micrognathia, Micromelia	ORPHA:93298
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic bone, Metaphys...	OMIM:614524
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Umbilical hernia, Multiple joint contrac...	OMIM:618143
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Short ribs, Carp...	OMIM:252600
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Short ribs	OMIM:600972
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Limb undergrowth, Abnormal metap...	ORPHA:177
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Delayed skeletal maturation, Rhizomelic arm shortening, Iliac crest serrat...	ORPHA:93317
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Reduced bone mine...	OMIM:619489
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly, Camptodac...	OMIM:301026
Scholte Syndrome	Short foot, Small hand, Acromicria, Patellar hypoplasia	OMIM:300977
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Abnormal ilium morphology, Osteopenia, Aplasia/Hypoplasia of the vertebra...	ORPHA:168549
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Acrofacial Dysostosis, Palagonia Type	Small hand, Finger syndactyly, Delayed skeletal maturation, Micrognathia, Short 4th metacarpal, S...	ORPHA:1787
Kinsship Syndrome	Failure to thrive, Micrognathia, Single transverse palmar crease, Polydactyly, Fibular hypoplasia...	OMIM:619297
Achondrogenesis Type 1A	Short foot, Micrognathia, Micromelia, Short palm	ORPHA:93299
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Say Syndrome	Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Micrognathia, Tapered finger	OMIM:181180
Kuskokwim Syndrome	Talipes, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella	ORPHA:1149
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ...	OMIM:218330
Osteogenesis Imperfecta, Type Viii	Osteopenia, Slender long bone, Radial bowing, Femoral bowing, Recurrent fractures, Tibial bowing,...	OMIM:610915
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye...	ORPHA:53
Van Maldergem Syndrome 2	Osteopenia, Cutaneous syndactyly of toes, Clinodactyly, Tracheomalacia, Cutaneous finger syndacty...	OMIM:615546
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasti...	OMIM:601370
Schneckenbecken Dysplasia	Hypoplastic scapulae, Umbilical hernia, Advanced tarsal ossification, Short ribs, Limb undergrowt...	OMIM:269250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,...	OMIM:255800
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Brachydactyly, Hip d...	ORPHA:2655
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Short metacarpal, Hammertoe	ORPHA:773
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Delayed skeletal maturation, Short finger, Elbow flexion contracture...	OMIM:608328
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Grange Syndrome	Increased susceptibility to fractures, Short palm, Syndactyly	ORPHA:79094
Steinfeld Syndrome	Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ...	OMIM:184705
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Short distal phalanx of finger	OMIM:618470
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, O...	ORPHA:3138
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Metaph...	OMIM:250410
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica...	OMIM:617925
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro...	OMIM:616145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone	OMIM:619479
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb und...	ORPHA:453510
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Elbow contractur...	OMIM:617137
Alagille Syndrome	Short distal phalanx of finger, Failure to thrive, Micrognathia, Hypoplasia of the ulna, Clinodac...	ORPHA:52
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short foot, Short palm	ORPHA:238750
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Three M Syndrome 3	Slender long bone, Joint hypermobility, Prominent calcaneus, Hip dysplasia, Clinodactyly of the 5...	OMIM:614205
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Micrognathia, Aplasia/Hypoplasia of the patella...	ORPHA:1225
Larsen-Like Syndrome	Joint dislocation, Delayed skeletal maturation, Radial deviation of the 4th finger, Joint hypermo...	OMIM:608545
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pes planus, Calcaneovalgus deformity, Joint hypermobility	OMIM:225320
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short hallux, Clinod...	ORPHA:2662
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Umbilical hernia, Elbow flexion contracture, 11 pairs of ribs, Micrognath...	OMIM:616266
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow flexion contrac...	OMIM:615065
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Short toe, Delayed skeletal maturation, Short 5th metacarpal, 11 pairs of...	OMIM:617877
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon...	ORPHA:3035
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Metaphyseal chondrodysplasia, Hallux valgus, Pes planus, Brachydactyly, Craniosynos...	ORPHA:166035
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth	OMIM:613124
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Achondrogenesis	Micrognathia, Micromelia	ORPHA:932
Abruzzo-Erickson Syndrome	Radioulnar synostosis	OMIM:302905
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Tal...	OMIM:134780
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Failure to thrive, Fibular aplasia, Micrognathia, Fibular hypoplas...	OMIM:300373
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, Oligodactyly, Abno...	ORPHA:1307
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Clinodactyly of the 5th finger, Short foot, Joint contracture of the 5th finger	OMIM:248910
Craniosynostosis 3	Hallux valgus, Brachydactyly, Single transverse palmar crease	OMIM:615314
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Talipes equinovarus, Vertebral fusion, Short long bone	OMIM:618845
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Pes planus,...	OMIM:620494
Char Syndrome	Clinodactyly of the 5th finger, Distal/middle symphalangism of 5th finger	OMIM:169100
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Umbilical hernia, Delayed skeletal mat...	OMIM:601358
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica...	ORPHA:79443
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha...	OMIM:184460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Broad hallux, Long hallux, Adducted thumb, Pseudoepi...	OMIM:611816
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl...	ORPHA:3186
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Cortical sclerosis	OMIM:122860
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Micrognathia	ORPHA:2013
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Micromelia, Clubbing of fingers, Broad long bones, Micrognathia, Short ribs, Ta...	ORPHA:1865
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Hand polydactyly, Symphal...	ORPHA:46627
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Abnormal hand morphology, Azoospermia, Hypergonadotropic hypogonadism, Short phalanx ...	OMIM:300845
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Brachydactyly, Short thumb	OMIM:165800
Qazi-Markouizos Syndrome	Dysharmonic skeletal maturation, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Small ...	OMIM:166210
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Brachydactyly, Short metacarpal, Short humerus	ORPHA:508542
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Hypoplasia of the ulna, Ankle clonus	OMIM:615398
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Phalangeal cone-shaped epiphyses, Short toe, Clinodactyly of the 2nd finger, Absent m...	OMIM:266920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Unilateral brachydactyly, Synd...	OMIM:173800
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El...	ORPHA:1507
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Humeroradial synostosis, Arachn...	ORPHA:95699
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Thanatophoric Dysplasia Type 2	Micromelia, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture...	OMIM:259700
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Limited elbow mov...	OMIM:218600
Fetal Encasement Syndrome	Lower limb undergrowth, Upper limb undergrowth	OMIM:613630
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the wrist, Abnormal femur morphology, Abnormal hip ...	ORPHA:3130
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Broad femoral neck, Wrist swelling, Nar...	ORPHA:1159
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphyseal widening, ...	OMIM:612813
Aplasia Cutis Congenita	Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Becker Nevus Syndrome	Abnormal tibia morphology, Micromelia, Upper limb asymmetry	ORPHA:64755
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with rounded ...	OMIM:231050
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs...	ORPHA:40366
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Subperiosteal bone form...	OMIM:618188
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Abnormal diaphysis morphology...	ORPHA:192
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Absent Achilles reflex, Pes planus, Hyporeflexia of lower limbs, Cal...	ORPHA:93952
Nager Syndrome	Aplasia/Hypoplasia of the radius, Micrognathia, Abnormality of the lower limb, Aplasia/Hypoplasia...	ORPHA:245
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the radius, Short thumb, Infertility, Aplasia/Hypoplasia of the patella, Me...	ORPHA:2909
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Short phalanx of finger, Complete duplication ...	ORPHA:59315
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Micrognathia, Joint hypermobility, Short foot	ORPHA:254531
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Delayed patellar ossification, Abnormal femoral neck/h...	ORPHA:163649
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavi...	ORPHA:370930
Nail-Patella Syndrome	Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist...	ORPHA:2614
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Decreased skull ossification, Clinodactyly of the 5th finger, Syndactyly	OMIM:601163
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Metaphyseal dappling, Delayed pubi...	OMIM:184250
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Deep palmar crease, Accelerated skeletal maturation, Osteoporosi...	OMIM:617190
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe...	OMIM:156550
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density	ORPHA:37748
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Microretrognathia, Finger syndactyly, Camptodactyly of finger, Ar...	ORPHA:2994
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Decreased skull ossifica...	ORPHA:93324
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Narrow foot, Single transverse palmar crease, Pes valgus, Pes pl...	ORPHA:2896
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexio...	ORPHA:88630
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j...	OMIM:605130
Christian Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Prominent metopic ridge	OMIM:309620
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Patellar hypoplasia, Delayed skeletal maturation, Pathologic fract...	ORPHA:221016
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger, Failure to thrive	OMIM:222748
Arteriosclerosis, Severe Juvenile	Short phalanx of finger, Hip dysplasia	OMIM:208060
Joubert Syndrome 33	Syndactyly	OMIM:617767
Al-Gazali Syndrome	Broad distal phalanx of finger, Failure to thrive, Micrognathia, Wrist flexion contracture, Bowed...	OMIM:609465
Anauxetic Dysplasia 2	Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Brachydactyly, Metaphysea...	OMIM:617396
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas...	OMIM:617425
Trisomy 8P	Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal...	ORPHA:264450
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Tracheomalacia	OMIM:245650
Achondrogenesis, Type Ia	Hypoplastic scapulae, Hypoplastic sacrum, Abnormal femoral metaphysis morphology, Severe limb sho...	OMIM:200600
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r...	ORPHA:2021
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Microretrognathia, Bowing of the long bones, Angulated humerus, Short long bone, Smal...	OMIM:616229
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Failure to thrive, Limb undergrowth, Brachydactyly, Abnormal metap...	ORPHA:2107
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Three M Syndrome 2	Short 5th finger, Slender long bone, Clinodactyly, Delayed skeletal maturation, Prominent calcane...	OMIM:612921
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Tibial bowing, Single...	OMIM:612651
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Absent toe, Patellar dislocation, Clinodactyly of the 2nd finger, Clinodactyly of...	OMIM:620663
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Radioulnar synostosis, Overlapping fingers, Limited pronation/supination of forearm, Short middle...	OMIM:616738
Occipital Horn Syndrome	Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Short humerus, Joint h...	OMIM:304150
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de...	OMIM:611490
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa...	OMIM:259710
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Micrognathia, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly...	ORPHA:444002
Glutamine Deficiency, Congenital	Camptodactyly, Micromelia	OMIM:610015
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, 2-5 f...	OMIM:619339
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease	OMIM:614230
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the long bones, Talipes equinovarus, Short long bone	OMIM:224410
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Schisis Association	Micromelia	ORPHA:63862
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Abnormality of the wrist, Abnormal thumb morphology, Bilateral single tran...	ORPHA:2511
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ...	OMIM:609638
Osteogenesis Imperfecta, Type Xiii	Wide distal femoral metaphysis, Increased bone mineral density, Femoral bowing, Wide pubic symphy...	OMIM:614856
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Mesomelia	ORPHA:1908
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic...	OMIM:157800
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Delayed skeletal maturation, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-mes...	ORPHA:163654
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Delayed skeletal maturation, Plantar hyperkeratosis, Metaphyseal...	ORPHA:221008
Alpha-Mannosidosis	Synostosis of joints, Delayed skeletal maturation, Bowing of the long bones, Arthritis, Hip dyspl...	ORPHA:61
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Contractures of the large joints, Equinovarus deformity, Micrognathia...	ORPHA:3078
Microlissencephaly-Micromelia Syndrome	Adducted thumb, 11 pairs of ribs, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Meier-Gorlin Syndrome 5	Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the capital femoral epiphysis, ...	OMIM:613805
Histidinuria Due To A Renal Tubular Defect	Rounded middle phalanx of finger, Short middle phalanx of finger	OMIM:235830
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm, Abnormality of the...	ORPHA:3015
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Histidinuria-Renal Tubular Defect Syndrome	Rounded middle phalanx of finger, Short middle phalanx of finger	ORPHA:2158
Acrogeria	Micrognathia, Small hand, Short foot, Joint hypermobility	ORPHA:2500
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Myelomeningocele, Brac...	OMIM:305600
Majeed Syndrome	Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong...	ORPHA:77297
Fryns-Smeets-Thiry Syndrome	Micrognathia, Patellar aplasia, Joint hypermobility, Arachnodactyly, Hip dislocation	ORPHA:2058
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short femur, Failure to thrive, Short humerus, Polydactyly	ORPHA:17
ERI1-related disease	Small for gestational age, Failure to thrive, Slender metacarpals, Oligodactyly, Clinodactyly of ...	OMIM:608739
Brachyolmia Type 3	Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of finger, Clinod...	OMIM:113500
Pseudohypoparathyroidism Type 1B	Depression, Laryngeal dystonia, Increased bone density with cystic changes, Irritability, Cortica...	ORPHA:94089
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Brachydactyly, Mesomelia	ORPHA:171866
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Short metacarpal, Acetabular dysplasia	OMIM:201180
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Short distal phalanx of finger, Epiphyseal stippling	OMIM:302950
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Townes-Brocks Syndrome 1	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseudoepiphyses of ...	OMIM:107480
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Arachnodactyly, Brachydac...	OMIM:600325
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Short femur	OMIM:617798
Osteogenesis Imperfecta, Type Iii	Wide anterior fontanel, Slender long bone, Micrognathia, Bowing of limbs due to multiple fracture...	OMIM:259420
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Large knee, Cone-shaped epiph...	OMIM:619269
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density	OMIM:620366
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Radial-Renal Syndrome	Absent thumb, Absent radius	OMIM:179280
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Delayed skeletal maturation, Short 5th metacarpal, Micrognathi...	ORPHA:264200
Temtamy Syndrome	Short toe, Micrognathia, Brachydactyly, Clinodactyly of the 5th finger, Genu varum	ORPHA:1777
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Hypophosphatasia, Infantile	Metaphyseal cupping, Micromelia, Short ribs, Short lower limbs, Bowing of the legs	OMIM:241500
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Tenosynovial Giant Cell Tumor	Abnormality of the ankle, Limitation of joint mobility, Chondrocalcinosis, Abnormal shoulder morp...	ORPHA:66627
Oslam Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti...	OMIM:187600
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Micrognathia, Short clavicles, Acroosteolysis of distal phalanges...	OMIM:608612
Nail-Patella Syndrome	Triceps aplasia, Elongated radius, Patellar hypoplasia, Quadriceps aplasia, Hypoplastic radial he...	OMIM:161200
Camurati-Engelmann Disease	Sclerosis of skull base, Genu valgum, Anemia, Cortical thickening of long bone diaphyses, Increas...	OMIM:131300
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly	OMIM:244600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Delayed skeletal maturation, Small epiphyses, Genu valgum, Lim...	OMIM:271510
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Penoscrotal Transposition	Clinodactyly of the 5th finger, Micrognathia, Patellar aplasia, Bilateral single transverse palma...	ORPHA:2842
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip contracture, Knee flexion...	OMIM:156400
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Micrognathia, Limited elbow movement, Brachydactyly, Short foot, Proxim...	OMIM:300590
Osteogenesis Imperfecta, Type Xviii	Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge...	OMIM:617952
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Obesity, Micrognathia, Fibular hypoplasia, Brachydacty...	ORPHA:444077
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Osteopenia, Ulnar deviation of finger, Elbow flexion contracture, Microgn...	OMIM:121050
Rhyns Syndrome	Osteopenia, Radial bowing, Delayed skeletal maturation, Brachydactyly, Short long bone, Osteoporo...	OMIM:602152
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arthrogryposis multiplex congenita, Ulnar deviation of the hand or of fingers of the hand, Microg...	ORPHA:562528
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p...	ORPHA:1553
Achondrogenesis, Type Ii	Microretrognathia, Abnormal foot morphology, Short tubular bones of the hand, Hypoplastic iliac w...	OMIM:200610
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal b...	ORPHA:371428
Tarp Syndrome	Clinodactyly, Failure to thrive, Micrognathia, Single transverse palmar crease, Postaxial polydac...	OMIM:311900
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Umbilical hernia, Recurrent mandibular subluxations, Micrognathia, Limb undergrowth, D...	OMIM:225410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Incr...	OMIM:618476
Bartsocas-Papas Syndrome 1	Axillary pterygium, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short thumb, Oligoda...	OMIM:263650
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease	OMIM:601224
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal metacarpal morphology, Short distal phalanx of finger, Genu valgum, Brachydactyly	ORPHA:1295
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Brachydactyly, Single transverse palmar crease	OMIM:620062
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Dumbbel...	ORPHA:485
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Brachydactyly	ORPHA:921
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology	ORPHA:935
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Hydrolethalus	Micrognathia, Micromelia, Postaxial hand polydactyly	ORPHA:2189
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Brachydactyly, Coxa vara, Narr...	ORPHA:2637
Genitopatellar Syndrome	Hypoplastic ilia, Micrognathia, Patellar aplasia, Hip contracture, Knee flexion contracture, Tali...	ORPHA:85201
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Acetabular spurs, Broad long bone diaphyses, Pes valgus, Brachydac...	OMIM:614376
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly, Cone-shaped ...	OMIM:615630
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:264700
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, Mesomelic/r...	ORPHA:2347
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Osteopetrosis, Autosomal Recessive 5	Hip subluxation, Cranial hyperostosis, Flared metaphysis, Extramedullary hematopoiesis, Hepatospl...	OMIM:259720
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger	OMIM:601355
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:277440
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Osteopenia, Broad hallux, Abnormal hip bone morphology, ...	ORPHA:251028
Cartilage-Hair Hypoplasia	Small hand, Rhizomelia, Abnormal pelvic girdle bone morphology, Micromelia, Abnormal diaphysis mo...	ORPHA:175
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Aplas...	ORPHA:1234
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Infantile Systemic Hyalinosis	Micromelia, Brachydactyly, Short palm, Camptodactyly of finger	ORPHA:2176
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly	ORPHA:3352
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu valgum, Join...	ORPHA:230851
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, P...	ORPHA:2876
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o...	OMIM:117650
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Decreased body weight, Hypoplasia of the radius	OMIM:609053
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Radioulnar dislocation, Joint dislocation, Elbow dislocation, Sandal gap, Knee disloc...	ORPHA:536532
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Silver-Russell Syndrome	Lower limb asymmetry, Sandal gap, Abnormality of the calcaneus, Delayed cranial suture closure, D...	ORPHA:813
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp...	ORPHA:89936
Lowry-Wood Syndrome	Shallow acetabular fossae, Squared iliac bones, Elbow flexion contracture, Irregular epiphyses, S...	OMIM:226960
Kenny-Caffey Syndrome, Type 1	Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossification, Delayed...	OMIM:244460
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Cubitus valgus, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:617157
Frank-Ter Haar Syndrome	Flared metaphysis, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipe...	OMIM:249420
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ...	ORPHA:85408
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Brachydactyly, Bilateral single transverse p...	ORPHA:1581
Nicolaides-Baraitser Syndrome	Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Abno...	ORPHA:3051
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Pes planus, Generalized osteoporosis, Small joint hypermobilty, Short femoral neck, ...	OMIM:184095
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas...	ORPHA:2911
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger	ORPHA:181
Hajdu-Cheney Syndrome	Foot acroosteolysis, Osteopenia, Umbilical hernia, Pathologic fracture, Genu valgum, Fibular bowi...	OMIM:102500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Hypogonadism, Pes cavus, 2-3 toe syndactyly, 4-5 toe syndactyly, ...	ORPHA:3041
Meier-Gorlin Syndrome 4	Genu recurvatum, Slender long bone, Delayed skeletal maturation, Micrognathia, Patellar aplasia	OMIM:613804
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pes planus, Clinodact...	OMIM:300990
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed skeletal maturation, Micrognathia, Short 4th metacarpal, Cubitus valgus, Hallux valgus, M...	ORPHA:1772
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Bil...	ORPHA:1120
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane...	OMIM:614378
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi...	ORPHA:289176
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ...	ORPHA:1782
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v...	OMIM:224690
Senior-Loken Syndrome 9	Hypogonadism, Polydactyly, Obesity, Hypoplasia of the femoral head	OMIM:616629
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Polydactyly, Down-sloping shoulders...	OMIM:109400
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Short distal phalanx of finger, Epiphyseal stippling, Brachydactyly	ORPHA:1914
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Decreased skull ossification, Narrow greater sciatic notch, Ulnar deviation of the ...	OMIM:263210
Weill-Marchesani Syndrome	Brachydactyly, Short thumb	ORPHA:3449
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas...	OMIM:136760
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ...	ORPHA:2163
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand polydactyly,...	ORPHA:1520
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Dysosteosclerosis	Short diaphyses, Osteopenia, Broad femoral neck, Flared metaphysis, Sclerosis of hand bone, Scler...	OMIM:224300
Pycnodysostosis	Coronal craniosynostosis, Rhizomelia, Small hand, Short finger, Hypoplastic iliac wing, Hepatospl...	ORPHA:763
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Camptodactyly of toe, K...	ORPHA:2848
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metatarsal periosteal thickening, Metacarpal periosteal thickening, Perioste...	OMIM:161700
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Micrognathia, Adducted thumb, Brachydactyly, Abnormality of the humerus	ORPHA:1794
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Micrognathia, Arachnodactyly, Brachydactyly	ORPHA:2824
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Bilateral single transverse palmar creases, Hip contracture, Bro...	ORPHA:353298
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head	ORPHA:2975
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Down-sloping shoulders	ORPHA:1390
Oncogenic Osteomalacia	Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo...	ORPHA:352540
Cutis Laxa, Autosomal Recessive, Type Iie	Hip dislocation, Deep palmar crease, Brachydactyly, Clinodactyly of the 5th finger, Genu varum, S...	OMIM:619451
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of...	ORPHA:93259
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Delayed cranial suture closure, Micrognathia, Ab...	ORPHA:2484
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Broad foot, Limited elbow movement, Short foot, Short metacarpa...	OMIM:261540
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Spastic Paraplegia 9A, Autosomal Dominant	Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Pes cavus, Delayed skeletal matur...	OMIM:601162
Autoimmune Hypoparathyroidism	Depression, Laryngeal dystonia, Confusion, Irritability, Increased bone mineral density	ORPHA:36913
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Ankle flexion contracture, Absent thumb, Clinodactyly, Radial deviation of finger...	OMIM:268300
Microcephaly 13, Primary, Autosomal Recessive	Micrognathia, Small hand, Short foot, Metaphyseal sclerosis	OMIM:616051
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Meier-Gorlin Syndrome 2	Slender long bone, Tracheomalacia, Delayed skeletal maturation, Micrognathia, Patellar aplasia, J...	OMIM:613800
Marinesco-Sjögren Syndrome	Avascular necrosis of the capital femoral epiphysis, Metatarsus valgus, Coxa valga, Abnormal meta...	ORPHA:559
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ...	OMIM:201750
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Small for gestational age, Clinodactyly, Slender long bone, Failure to thrive, ...	OMIM:264090
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint hypermobility,...	OMIM:610442
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Anemia, Gait disturbance, Thro...	ORPHA:77261
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite...	OMIM:617809
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Abnormal foot morphology	OMIM:609166
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Micrognathia, 2-3 toe syndactyly, H...	OMIM:618659
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Osteopetrosis, Increased bone mineral density	OMIM:617306
Mosaic Trisomy 9	Micromelia, Finger clinodactyly, Camptodactyly of finger, Elbow dislocation, Micrognathia, Talipe...	ORPHA:99776
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius	ORPHA:2476
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Brac...	ORPHA:1824
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, P...	ORPHA:800
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the thumb	ORPHA:87
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, M...	OMIM:616894
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Single transverse palmar crease, Talipes, Limb undergrowth, Small for gestational age	ORPHA:79243
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Brachydactyly, Tapered finger	ORPHA:317
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Brachydactyly, Ulnar deviation of the hand, Camptodactyly, Short foot, Hammertoe	OMIM:275900
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Microretrognathia, Decreased body weight, Talipes equinovarus, Sh...	OMIM:615789
Dpm1-Cdg	Sandal gap, Failure to thrive, Long hallux, Micrognathia, Knee flexion contracture, Limb undergro...	ORPHA:79322
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion contracture, 2-3 t...	OMIM:618162
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Small for gestational age, Microretrognathia, Micro...	ORPHA:508488
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Lower limb asymmetry, Abnormality of the wrist, Abnormal femur morphology, Micrognathia, Abnormal...	ORPHA:2063
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Narrow palm, Brachydactyly, Camptodactyly, Short fo...	OMIM:615547
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Failure to thrive, 2-3 finger syndactyly, Hypoplasia of the radius	OMIM:603467
Osteopathia Striata-Cranial Sclerosis Syndrome	High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increa...	ORPHA:2780
Mosaic Trisomy 16	Short forearm, Short thumb, Clinodactyly, Single transverse palmar crease, Short femoral neck, Sm...	ORPHA:1708
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu...	ORPHA:1327
Acrofacial Dysostosis, Catania Type	Single transverse palmar crease, Micrognathia, Brachydactyly, Short palm	OMIM:101805
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas...	ORPHA:2746
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Micro...	ORPHA:989
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Small for gestational age, Absent thumb, Short thumb	OMIM:610832
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia	OMIM:612840
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Short finger, Micrognathia, Single...	OMIM:619841
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Hypoplastic radial head, Elbow flexion contracture, Micrognathia, Lim...	OMIM:122470
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, Brachydactyly, Camptodactyly of finger	ORPHA:2863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Short toe, Delayed ossification of carpal bones, Tapered finger	OMIM:239300
Osteopetrosis, Autosomal Recessive 8	Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia	OMIM:615085
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Micromelia, Abnormal distal phala...	ORPHA:2636
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Luscan-Lumish Syndrome	Long foot, Advanced ossification of carpal bones	OMIM:616831
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Ataxia-Telangiectasia	Lymphopenia, Tremor, Gait disturbance, Cognitive impairment, Ataxia	ORPHA:100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Reduced bone mineral...	OMIM:620210
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Arachnodactyly, Metatarsus adductus, Camptodactyly, Calcaneovalgus...	OMIM:612513
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cuta...	OMIM:236500
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Small hand, Short foot	OMIM:617903
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of joint mobility, Tracheo...	ORPHA:93260
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Osteopenia, Hypoplasia of the odonto...	OMIM:616007
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl...	OMIM:166200
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped capital femor...	OMIM:300232
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone...	OMIM:183900
Alagille Syndrome 1	Short distal phalanx of finger, Hypoplasia of the ulna, Failure to thrive	OMIM:118450
Laron Syndrome	Micrognathia, Brachydactyly, Short toe, Abnormality of the elbow	ORPHA:633
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Prominent metopic ridge, Long fingers, Calcaneovalgus deformit...	ORPHA:521445
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Limb undergrowth, Failure to thrive, Coxa valga	OMIM:230600
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Congenital foot contractures, Ankle clonus	ORPHA:565624
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Short thumb, Brachydactyly	ORPHA:401935
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly, Clinodactyly of ...	OMIM:200110
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Bowed humerus, Hip dislocation, Thin long bone diaphyses	OMIM:616507
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Delayed skeletal maturation, Ivory epiphyses of the distal pha...	OMIM:136140
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ...	OMIM:166220
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Femoral bowing, Micrognathia, Talipes equinovarus, Adducted thum...	OMIM:617022
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Micrognathia, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Meier-Gorlin Syndrome 3	Microretrognathia, Slender long bone, Patellar hypoplasia, Tracheomalacia, Delayed skeletal matur...	OMIM:613803
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Ataxia, Anemia, Increased bone mineral density, Abn...	ORPHA:35687
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly	OMIM:616546
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My...	OMIM:252500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Joint hypermobility, Brachydactyly, Shor...	OMIM:619184
Hall-Riggs Syndrome	Brachydactyly, Metaphyseal dysplasia	OMIM:234250
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Brachydactyly	OMIM:259775
Coffin-Lowry Syndrome	Bifid sternum, Delayed skeletal maturation, Single transverse palmar crease, Tapered finger, Pes ...	OMIM:303600
Mosaic Trisomy 8	Limitation of joint mobility, Deep plantar creases, Camptodactyly of finger, Micrognathia, Patell...	ORPHA:96061
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos...	ORPHA:2473
Pyknoachondrogenesis	Short iliac bones, Micromelia, Short ribs, Aplastic pubic bone, Short long bone, Abnormal iliac w...	ORPHA:3003
Trichothiodystrophy	Osteopenia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral density, ...	ORPHA:33364
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Failure to thrive, Micrognathia, ...	ORPHA:2886
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Postaxial pol...	ORPHA:435638
Grange Syndrome	Finger clinodactyly, Increased susceptibility to fractures, Brachydactyly, Recurrent fractures, S...	OMIM:602531
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck, Rhizomelia,...	OMIM:611209
Holzgreve Syndrome	Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2167
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Abnormality of the spleen, Tremor	ORPHA:94063
Kagami-Ogata Syndrome	Micrognathia, Coxa valga, Limb undergrowth, Long fingers	OMIM:608149
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Failure to thrive, Camptodactyly of finger, Slender build, Short humerus, 2-3 t...	ORPHA:3455
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Joint hemorrhage, Epiphyseal stippling	OMIM:277450
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Abnormal foot morphol...	ORPHA:2095
Lujan-Fryns Syndrome	Arachnodactyly, Micrognathia, Brachydactyly, Camptodactyly of finger	ORPHA:776
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Brachydactyly, Short toe	ORPHA:3085
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Micrognathia, Hallux valgus, Brachydactyly, Clinodac...	ORPHA:1305
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Desmosterolosis	Micrognathia, Micromelia, Metatarsus adductus	ORPHA:35107
Gaucher Disease	Splenic infarction, Osteopenia, Depression, Osteolysis, Pathologic fracture, Osteomyelitis, Joint...	ORPHA:355
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Clinodactyly of the 4th finger, 2-3 toe syndactyly, H...	ORPHA:485405
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Bent Bone Dysplasia Syndrome 1	Micrognathia, Short clavicles, Brachydactyly, Hypoplastic pubic bone, Bent long bone	OMIM:614592
Pycnodysostosis	Aplastic clavicle, Brachydactyly, Narrow iliac wing, Increased bone mineral density, Osteolytic d...	OMIM:265800
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Broad foot, Short ribs, Limb un...	OMIM:269860
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Enlargement of the ankles, Metaphyseal cupping, Irregular iliac crest, Abnormal joint morphology,...	ORPHA:99646
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Micromelia, Camptodactyly of finger, Elbow dislocation, Avascular necrosis of ...	ORPHA:3107
Jansen-De Vries Syndrome	Small hand, Short foot, Brachydactyly	OMIM:617450
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Brachydactyly, Camptodactyly of f...	ORPHA:137834
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Equinus calcaneus, Decreased patellar reflex, Equinovarus deformity	ORPHA:746
Osteoglosphonic Dysplasia	Rhizomelia, Micrognathia, Brachydactyly	ORPHA:2645
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima...	OMIM:619762
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Rhizomelia, Femoral bowing, Tibial bowing, Palmoplantar cutis laxa, Mesom...	OMIM:616482
Antley-Bixler Syndrome	Camptodactyly of finger, Joint stiffness, Femoral bowing, Arachnodactyly, Talipes, Elbow ankylosi...	ORPHA:83
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Micrognathia, Cubitus valgus, Hall...	OMIM:620072
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Joint contracture of the 5th finger, Joint contracture of the 4th finge...	OMIM:618914
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of...	ORPHA:2905
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Femoral bo...	ORPHA:289157
Joubert Syndrome 10	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly	OMIM:300804
Stüve-Wiedemann Syndrome	Micromelia, Camptodactyly of finger, Elbow flexion contracture, Genu valgum, Bowing of the long b...	ORPHA:3206
Inverted Duplicated Chromosome 15 Syndrome	2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3306
Spinocerebellar Ataxia, Autosomal Recessive 20	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	OMIM:616354
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diaphysis morpholog...	ORPHA:354
Acrocephalopolydactylous Dysplasia	Micromelia, Postaxial hand polydactyly	OMIM:200995
Temtamy Syndrome	Micrognathia, Talipes equinovarus, Brachydactyly, Short 2nd toe, Hip dislocation	OMIM:218340
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the odontoid process, Clinodactyly, Radial deviation of finger, S...	OMIM:305400
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Delayed skeletal maturation, Umbilical hernia, Patellar aplasia, H...	OMIM:616835
Geroderma Osteodysplasticum	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ...	OMIM:231070
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Delayed skeletal maturation, Avascular necrosis of the capital femoral...	ORPHA:2044
Werner Syndrome	Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral density	ORPHA:902
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage ...	ORPHA:169805
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Small hand, Short foot, Brachydactyly	OMIM:300354
Charge Syndrome	Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hypogonadotropic hypogonadism, Ha...	OMIM:214800
Camurati-Engelmann Disease	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp...	ORPHA:1328
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di...	OMIM:259730
Humeroradial Synostosis	Humeroradial synostosis	OMIM:236400
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Coffin-Siris Syndrome 6	Micrognathia, Brachydactyly, Clinodactyly	OMIM:617808
Neu-Laxova Syndrome	Micrognathia, Micromelia, Large hands	ORPHA:2671
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lymphopenia, ...	OMIM:242900
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial...	ORPHA:50815
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Hip dysplasia	OMIM:618381
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Abnormality of the hand, Abnormal metacarpal morphology, Brachydactyly,...	ORPHA:3194
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly	ORPHA:1439
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Limb undergrowth, Metaphyseal dysplasia, Bowing...	ORPHA:1855
9Q33.3Q34.11 Microdeletion Syndrome	Patellar hypoplasia, Patellar aplasia, Single transverse palmar crease, Talipes equinovarus, Bila...	ORPHA:495818
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Hip dislocation, Failure to thrive	OMIM:618005
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Proximal placement of thumb, ...	ORPHA:94065
Sirenomelia	Absence of the sacrum, Sirenomelia, Aplasia/Hypoplasia of the radius	ORPHA:3169
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, 2-3 toe syndac...	OMIM:614188
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Slender long bone, Brachydactyly	OMIM:618265
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Brachydactyly, Abnormality of the elbow	ORPHA:2701
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Acetabular dysplasia, Hypoplastic vertebral bodies, Flared iliac wing,...	ORPHA:79255
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Increased susceptibility to fr...	OMIM:619752
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Micromelia, Crumpled long bones, Femoral retroversion, Coxa vara, Protrusio acetabuli...	OMIM:610682
Recombinant 8 Syndrome	Deep plantar creases, Camptodactyly of finger, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:96167
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M...	ORPHA:783
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol...	ORPHA:3219
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short...	ORPHA:488434
Kenny-Caffey Syndrome, Type 2	Anemia, Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medull...	OMIM:127000
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Pes valgus, Progressive flexion contr...	ORPHA:522077
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Single transverse palmar crease, Polydactyly, Brachydactyly	OMIM:618950
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Splenomegaly, Single transverse palmar crease	OMIM:618541
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Bilateral single transverse palmar creases	ORPHA:1116
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Hip dislocation, Microretrognathia, Postaxial foot polydactyly, Sho...	OMIM:270400
Duane Retraction Syndrome	Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr...	ORPHA:233
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Broad thumb, Brachydactyly, Large hands	ORPHA:1770
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Bra...	ORPHA:1786
Tonne-Kalscheuer Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:300978
Trichorhinophalangeal Syndrome Type 2	Avascular necrosis of the capital femoral epiphysis, Genu valgum, Bilateral single transverse pal...	ORPHA:502
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Brachydactyly	OMIM:614607
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac...	ORPHA:2554
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Osteomyelitis, Lymp...	ORPHA:443811
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Clinodactyly, Failure to thrive in infancy, Short proximal phalanx of the 5th fing...	ORPHA:261323
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Failure to thrive, ...	OMIM:105650
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Hypergonadotropic hypogonadism, Absent radius, Small for gestational a...	OMIM:227650
Genitopatellar Syndrome	Congenital hip dislocation, Inferior pubic ramus hypoplasia, Micrognathia, Patellar aplasia, Hip ...	OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Micrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Sca...	OMIM:617061
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, 2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular nec...	OMIM:150230
Osteogenesis Imperfecta	Rhizomelia, Calcification of the interosseus membrane of the forearm, Micromelia, Slender long bo...	ORPHA:666
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Smith-Magenis Syndrome	Abnormal forearm morphology, Broad palm, Brachydactyly, Short palm	OMIM:182290
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Dysmetria, Knee flexion contracture, Head titubation, Ataxia, B...	OMIM:619708
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Elbow dislocation, Missing ribs, Aplasia/hypoplasia of the femur,...	ORPHA:2769
Sneddon Syndrome	Mental deterioration, Lymphopenia, Tremor	OMIM:182410
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Absent radius, Small for gestational age, Hypergonadotropic hypogonadi...	OMIM:600901
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Clinodactyly, Lymphopenia, Dysmetria, Limb undergrowth, Gait disturbance, Cogni...	OMIM:616541
Slc39A8-Cdg	Cutaneous syndactyly of toes, Elbow flexion contracture, Failure to thrive in infancy, Knee flexi...	ORPHA:468699
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Knee flexion contracture, Short long bone	OMIM:620454
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Micrognathia, Brachydactyly, Bilateral single transverse palmar creases, Camptodactyly of finger	ORPHA:2083
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Cartilage-Hair Hypoplasia	Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Lymphopenia, Femoral bowing, Limited...	OMIM:250250
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Microretrognathia, Rocker bottom foot, Clinodactyly, Overlapping toe, Bilateral singl...	ORPHA:488642
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Micrognathia, Equinus calcaneus, Limited elbow extensi...	OMIM:154700
Vater/Vacterl Association	Short thumb, Failure to thrive, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb,...	OMIM:192350
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia o...	ORPHA:90154
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Microretrognathia, Brachydactyly, Cubitus valgus	OMIM:620237
Turner Syndrome Due To Structural X Chromosome Anomalies	Genu valgum, Micrognathia, Pes planus, Splayed toes, Abnormal forearm bone morphology, Osteopenia...	ORPHA:99413
Mosaic Monosomy X	Genu valgum, Micrognathia, Pes planus, Splayed toes, Abnormal forearm bone morphology, Osteopenia...	ORPHA:99228
Monosomy X	Genu valgum, Micrognathia, Pes planus, Splayed toes, Abnormal forearm bone morphology, Osteopenia...	ORPHA:99226
Vacterl With Hydrocephalus	Absence of the sacrum, Hypoplasia of the radius, Micrognathia, Hip dislocation	ORPHA:3412
Turner Syndrome	Genu valgum, Micrognathia, Pes planus, Splayed toes, Abnormal forearm bone morphology, Osteopenia...	ORPHA:881
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Lymphopenia, Irritability	ORPHA:391307
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy...	OMIM:269500
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia, Arthritis	OMIM:604250
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Brachydactyly, Clinodactyly	OMIM:614261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Short foot, Short palm	OMIM:241410
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal morphology, B...	ORPHA:974
Feingold Syndrome Type 1	Toe syndactyly, Short thumb, Short middle phalanx of finger, Micrognathia, Short middle phalanx o...	ORPHA:391641
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, Mi...	ORPHA:199
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Brachydactyly	OMIM:617763
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Kid Syndrome	Palmoplantar keratoderma, Patellar hypoplasia, Equinus calcaneus, Delayed pubic bone ossification...	ORPHA:477
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Micrognathia, 2-3 toe syndactyly, Postaxial polydacty...	OMIM:614099
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa v...	OMIM:614701
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Small cervical vertebral bodies, Twelfth rib hypoplasia, Rhizomelic arm sh...	ORPHA:397715
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Failure to thrive,...	ORPHA:2538
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Microretrognathia, Po...	ORPHA:672
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Hypoplastic vertebral bodies, Brachydactyly, Postaxial hand polydactyly, Clino...	ORPHA:2916
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Craniosynostosis 2	Triphalangeal thumb, Brachydactyly	OMIM:604757
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Ataxia-Telangiectasia	Dysdiadochokinesis, Inability to walk, Lymphopenia, Decreased proportion of CD4-positive helper T...	OMIM:208900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Micrognathia, Talipes equinovarus, Cubitus valgus, Brachydactyly,...	OMIM:300534
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Bilateral single transverse palmar creases, Hand polyda...	ORPHA:1308
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly	OMIM:217100
Hypomagnesemia 3, Renal	Genu valgum, Rickets, Short metacarpal, Bowing of the legs	OMIM:248250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Brachydactyly	OMIM:618027
Keutel Syndrome	Short distal phalanx of finger, Calcification of cartilage	ORPHA:85202
Gracile Bone Dysplasia	Slender long bone, Brachydactyly, Flared metaphysis	OMIM:602361
Menkes Disease	Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Micrognathia, Joint hypermobility, Bowing of ...	ORPHA:565
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Micrognathia, Tibial bowing, Flexion contractu...	OMIM:601812
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Ataxia, Decreased proportio...	ORPHA:760
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Developmental And Epileptic Encephalopathy 89	Talipes equinovarus, Limb undergrowth, Microretrognathia	OMIM:619124
Myhre Syndrome	Cone-shaped epiphysis, Limitation of joint mobility, Short toe, Clinodactyly, Short finger, Radia...	OMIM:139210
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinova...	OMIM:602398
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Broad finger	ORPHA:488632
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Brachydactyly, Symphalangism affecti...	ORPHA:1292
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ...	OMIM:180700
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Sclerosis of skull b...	OMIM:607944
Mirage Syndrome	Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Talipes equinovarus, Thrombocytop...	OMIM:617053
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Micrognathia, Brachydactyly, Proximal placement of thumb, Short palm, Syndactyly	OMIM:217980
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At...	OMIM:127550
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Brachydactyly	ORPHA:79325
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Micrognathia, Hand polydactyly, Mesoaxial polydactyly,...	ORPHA:2754
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Steep acetabular roof, Micrognathia, Short clavicles, Brachydac...	ORPHA:313855
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Hand polydactyly, Brachydactyly, Clinodactyly of the 5th finger	ORPHA:819
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Brachydactyly, Clinodactyly of t...	ORPHA:709
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly	OMIM:619123
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Splenomegaly, Tremor, Bowing of th...	ORPHA:667
Alg12-Cdg	Sandal gap, Overlapping fingers, Micrognathia, Talipes equinovarus, Long fingers, Short long bone...	ORPHA:79324
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Short ribs, Postaxial polydactyly, Short clavicles, Aplasia of the epiglot...	OMIM:617088
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus...	OMIM:211380
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Overlapping toe, Limb undergrowth, Broad palm, Small for gestational age	ORPHA:99843
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Delayed skeletal maturation, Delayed cranial suture ...	ORPHA:85199
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Micrognathia, Single transverse palmar crease, Limi...	OMIM:610759
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Micrognathia, Short rib...	ORPHA:93271
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Missing ribs, Hand polydactyly, Br...	ORPHA:7
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Short foot	ORPHA:2323
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia	OMIM:612301
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Small for gestational age, Micrognathia, ...	ORPHA:97360
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ...	ORPHA:794
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	ORPHA:397709
Adams-Oliver Syndrome 5	Brachydactyly, Syndactyly	OMIM:616028
Rin2 Syndrome	Brachydactyly	ORPHA:217335
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Micrognathia, Abnorma...	ORPHA:2363
Genitopalatocardiac Syndrome	Micrognathia, Brachydactyly, Postaxial hand polydactyly	ORPHA:2075
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Brachydactyly	OMIM:612938
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Micrognathia, Talipes equinovarus, Brachydactyly, Aplasia of the pecto...	ORPHA:1358
Radio-Tartaglia Syndrome	Micrognathia, Brachydactyly, Tapered finger	OMIM:619312
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachydactyly	OMIM:619995
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Osteopenia, Lymphopenia, Thrombocytopenia	OMIM:620365
Trisomy 8Q	Deep palmar crease, Micrognathia, Brachydactyly, Camptodactyly of finger	ORPHA:1752
Craniofrontonasal Syndrome	Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Down-sloping shoulders, Brachydactyly, Clino...	OMIM:304110
Cloacal Exstrophy	Abnormal tibia morphology, Talipes equinovarus, Abnormal fibula morphology, Absent foot, Hip disl...	ORPHA:93929
Orofaciodigital Syndrome Xix	Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po...	OMIM:620107
Immunodeficiency 9	Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Short long bone	OMIM:301110
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Lymphopenia, Splenomegaly, Arthritis, Thrombocytopenia, Anemia, Flexion contracture	OMIM:617591
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Tremor, Splenomegaly, Neutropenia in presence of anti-n...	OMIM:613179
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, Pedal edema, ...	OMIM:236700
Williams Syndrome	Synostosis of joints, Osteopenia, Abnormal pelvic girdle bone morphology, Depression, Joint stiff...	ORPHA:904
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly	OMIM:616954
Atypical Werner Syndrome	Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Osteolytic defects of ...	ORPHA:79474
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype...	OMIM:259770
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Frontorhiny	Finger clinodactyly, Brachydactyly, Hypoplastic frontal sinuses, Camptodactyly of finger	ORPHA:391474
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Abnormal thumb morphology, Tibi...	ORPHA:500095
Cog1-Cdg	Rhizomelia, Failure to thrive, Micrognathia, Talipes equinovarus, Short long bone, Flat acetabula...	ORPHA:263508
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Brachydactyly, Short palm, Narrow iliac wing, Clinodactyly of the 5th f...	OMIM:300712
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Micrognathia, Failure to thrive, Mesomelia	OMIM:613457
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Kleefstra Syndrome 1	Talipes equinovarus, Brachydactyly, Single transverse palmar crease	OMIM:610253
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Micrognathia, Brachydactyly, Hip dislocation	OMIM:300867
Cinca Syndrome	Brachydactyly	ORPHA:1451
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Prominent fingertip pads, Tracheomalacia, Positional foot deformity, Pes cavus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Prominent fingertip pads, Tracheomalacia, Positional foot deformity, Pes cavus...	ORPHA:363958
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Sandal gap, Micrognathia, Aplasia/Hypoplasia of the thum...	ORPHA:235
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo...	ORPHA:261318
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Brachydactyly	ORPHA:457193
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia, Joint contracture	OMIM:620443
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Tapered finger	OMIM:601353
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Broad foot, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sci...	OMIM:312870
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Microretrognathia, Preaxial hand p...	OMIM:200990
Ebola Hemorrhagic Fever	Lymphopenia, Lethargy, Leukopenia, Thrombocytopenia	ORPHA:319218
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Brachydactyly, Broad metatarsal, Broad palm, Broad metacarpals	OMIM:277600
Alg9-Cdg	Rhizomelia, Microretrognathia, Flared metaphysis, Delayed cranial suture closure, Micrognathia, T...	ORPHA:79328
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Single tran...	OMIM:612541
Smith-Lemli-Opitz Syndrome	Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna...	ORPHA:818
Macs Syndrome	Micrognathia, Brachydactyly, Single transverse palmar crease	OMIM:613075
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Micrognathia, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th f...	ORPHA:1974
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Micrognathia, Brachydactyly	ORPHA:2959
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Talipes valgus, Synostosis involving the 1st metacarpal, Joint hypermobility, Hallux valgus, Pes ...	ORPHA:466791
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Clinodactyly of the 4th finger, Brachyda...	ORPHA:177907
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Growth arrest lines, Abnormal pelvic girdle bone morphology, Lymphopenia, Autoimmune hemolytic an...	OMIM:102700
White-Sutton Syndrome	Micrognathia, Broad thumb, Hypoplastic cervical vertebrae, Brachydactyly	OMIM:616364
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd...	ORPHA:404448
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Micrognathia, Narrow joint spaces of the elbow, Brachydactyly, Clinodactyly of the ...	ORPHA:96182
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Micrognathia, Broad foot,...	OMIM:601803
15q26 overgrowth syndrome	Camptodactyly of finger, Micrognathia, Arachnodactyly, Long toe, Brachydactyly, Abnormal finger m...	DECIPHER:81
Adult-Onset Still Disease	Arthritis, Joint swelling, Cartilage destruction, Arthralgia/arthritis	ORPHA:829
Reactive Arthritis	Osteomyelitis, Joint stiffness, Joint swelling, Arthritis, Cartilage destruction, Enthesitis	ORPHA:29207
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Maternal Phenylketonuria	Bifid distal phalanx of the thumb, Micrognathia, Brachydactyly, Clinodactyly	ORPHA:2209
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Short ribs, Brachydactyly, Postaxial hand po...	OMIM:613610
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Monosomy 13Q14	Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of ...	ORPHA:1587
Myhre Syndrome	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Brachydactyly, Abnormal pubic bone...	ORPHA:2588
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Down Syndrome	Shallow acetabular fossae, Sandal gap, Clinodactyly, Hypoplastic iliac wing, Single transverse pa...	OMIM:190685
Orofaciodigital Syndrome I	Microretrognathia, Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2n...	OMIM:311200
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Micrognathia, Hip dysplasia, Brachydactyly, Syndactyly	OMIM:620654
Carpenter Syndrome 2	Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ...	OMIM:614976
Alkaptonuria	Joint dislocation, Calcification of cartilage, Joint stiffness, Increased susceptibility to fract...	ORPHA:56
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Anemia, Recurrent frac...	ORPHA:2785
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Absent fourth finger distal interphalangeal crease, Contracture of the proximal in...	OMIM:618050
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Contracture of the proximal interphal...	OMIM:280000
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Single transverse palmar crease, Bilateral c...	OMIM:619777
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Single transverse palmar crease, Brachydactyly, Clinodactyly of the 5...	OMIM:617062
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:847
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Aplasia of the distal phalanx of the...	ORPHA:364577
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Hypoplastic 5th ...	ORPHA:955
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ...	ORPHA:1521
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Microretrognathia, Proportionate shortening of all digits, Tapered finger, Brachydact...	ORPHA:280633
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Brachydactyly, Prominent fingertip pads, Short palm	ORPHA:466950
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Down Syndrome	Clinodactyly of the 5th finger, Sandal gap, Brachydactyly, Bilateral single transverse palmar cre...	ORPHA:870
Gorlin Syndrome	Arachnodactyly, Palmar pits, Brachydactyly	ORPHA:377
Chops Syndrome	Brachydactyly	OMIM:616368
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Brachydactyly, Camptodactyly, Short foot...	OMIM:309590
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Brachydactyly, ...	ORPHA:306542
Arboleda-Tham Syndrome	Microretrognathia, Sandal gap, Enlarged proximal interphalangeal joints, Genu valgum, Deviation o...	OMIM:616268
Jacobsen Syndrome	Missing ribs, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly	OMIM:147791
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Myelomeningocele, Short long ...	OMIM:306955
Fraser Syndrome 1	Aplasia/Hypoplasia of the sternum, Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symp...	OMIM:219000
Meester-Loeys Syndrome	Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Brachydactyly	OMIM:300989
Mgat2-Cdg	Brachydactyly	ORPHA:79329
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Barber-Say Syndrome	Talipes equinovarus, Micrognathia, Brachydactyly, Clinodactyly of the 5th finger	OMIM:209885
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Brachydactyly, Short palm	ORPHA:466943
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Ayme-Gripp Syndrome	Camptodactyly, Radioulnar synostosis, Brachydactyly, Tapered finger	OMIM:601088
Toriello-Carey Syndrome	Micrognathia, Brachydactyly, Clinodactyly	ORPHA:3338
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Cutaneous syndactyly	ORPHA:2052
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
46,Xy Sex Reversal 4	Distal symphalangism	OMIM:154230
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly	ORPHA:1519
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad hallux, Delayed skeletal maturation, Long hallux, Genu valgum, Arachnodactyly, Long toe, Ha...	ORPHA:261537
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Microretrognathia, Short thumb, Clinodactyly, Radial deviation of fin...	OMIM:613406
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Absent distal phalanges, Arachnodactyly, Talipes equ...	OMIM:610168
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Single transverse palmar crea...	OMIM:607932
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Holoprosencephaly	Hand polydactyly, Brachydactyly	ORPHA:2162
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Mowat-Wilson Syndrome	Broad hallux, Delayed skeletal maturation, Genu valgum, Long toe, Hallux valgus, Syndactyly, Addu...	ORPHA:2152
Noonan Syndrome	Radioulnar synostosis, Micrognathia, Brachydactyly, Clinodactyly of the 5th finger	ORPHA:648
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad hallux, Delayed skeletal maturation, Long hallux, Genu valgum, Arachnodactyly, Long toe, Ha...	ORPHA:261552
Adams-Oliver Syndrome 1	Talipes equinovarus, Toe syndactyly, Brachydactyly	OMIM:100300
1P36 Deletion Syndrome	Camptodactyly of finger, 11 pairs of ribs, Clinodactyly of the 5th finger, Brachydactyly, Hip dys...	ORPHA:1606
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Clinodactyly, Radial deviation of finger, Genu valgum, Micrognathia, Talipes equi...	OMIM:309580
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Brachydactyly, Metatarsus adductus, ...	OMIM:607872
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin...	ORPHA:110
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Clinodactyly of the 5th finger	ORPHA:138
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Micrognathia, Cubitus valgus, Brachydactyly	OMIM:163950
Cowden Syndrome	Palmoplantar keratoderma, Brachydactyly	ORPHA:201
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 21.1 Data