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Gene: Sfrp2 MGI:108078

Gene Summary

Name:

secreted frizzled-related protein 2

Synonyms:

Sdf5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina vasculature morphology	Sfrp2^tm1Aksh	HOM	Early adult	5.12×10^-09
increased startle reflex	Sfrp2^C50F	HOM	Early adult	7.85×10^-05
decreased bone mineral density	Sfrp2^I153N	HOM	Early adult	7.57×10^-08
decreased lean body mass	Sfrp2^C50F	HOM	Early adult	8.28×10^-05
decreased lean body mass	Sfrp2^tm1Aksh	HOM	Early adult	2.38×10^-14
increased bone mineral content	Sfrp2^tm1Aksh	HOM	Early adult	8.34×10^-12
increased bone mineral content	Sfrp2^I153N	HOM	Early adult	7.25×10^-09
curly tail	Sfrp2^C50F	HOM	Early adult	1.07×10^-05
corneal vascularization	Sfrp2^tm1Aksh	HOM	Early adult	1.58×10^-06
increased total body fat amount	Sfrp2^C50F	HOM	Early adult	8.18×10^-07
abnormal tail movements	Sfrp2^C50F	HOM	Early adult	7.12×10^-05
kinked tail	Sfrp2^tm1Aksh	HOM	Early adult	1.53×10^-08
curly tail	Sfrp2^tm1Aksh	HOM	Early adult	4.49×10^-06
increased bone mineral content	Sfrp2^C50F	HOM	Early adult	9.54×10^-07
decreased lean body mass	Sfrp2^I153N	HOM	Early adult	1.32×10^-05
kinked tail	Sfrp2^C50F	HOM	Early adult	5.45×10^-07
decreased bone mineral density	Sfrp2^tm1Aksh	HOM	Early adult	2.10×10^-06
abnormal bone structure	Sfrp2^tm1Aksh	HOM	Early adult	1.14×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Sfrp2 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 Sfrp2 (0 diseases)
Human diseases predicted to be associated with Sfrp2 (1354 diseases)

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

The table below shows human diseases predicted to be associated to Sfrp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Wahab Syndrome	Short thumb, Clinodactyly, Camptodactyly, Adducted thumb, Ankylosis, Short foot, Short metacarpal...	OMIM:615170
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Limitation of joint mobility, Brachydactyly, Abnormal metaphysis m...	ORPHA:3314
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Pseudopseudohypoparathyroidism	Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ...	ORPHA:79445
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Joint hypermobility, ...	OMIM:250460
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen...	OMIM:112800
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Joint stiffness, Bilateral single transverse palmar creases, ...	ORPHA:3237
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta...	ORPHA:1278
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal...	ORPHA:3246
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morphology, Upper li...	ORPHA:93351
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valg...	OMIM:271650
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay	Unusual dermatoglyphics, Metatarsus adductus	OMIM:112370
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Epiphyseal dysplasia, Irregular epiphyses, Abnormal hip joint mo...	OMIM:600969
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir...	OMIM:132400
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Leri-Weill Dyschondrosteosis	Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing...	OMIM:127300
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness...	ORPHA:2249
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
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
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger	ORPHA:1471
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad phalanges of the 2nd toe, Broad thumb, Sandal gap, Aplas...	ORPHA:93397
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Camptodactyly of finger, Carpal sy...	OMIM:186300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Joint stiffness, Overlappi...	OMIM:618167
Metatarsus Varus, Type I	Metatarsus adductus	OMIM:156520
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly	OMIM:233270
Tetrasomy X	Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th...	ORPHA:9
Arthrogryposis, Distal, Type 2B2	Sandal gap, Broad hallux, Short toe, Clinodactyly, Ulnar deviation of the wrist, Overlapping fing...	OMIM:618435
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Exostoses, Multiple, Type Ii	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133700
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,...	ORPHA:1275
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal...	OMIM:102370
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
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
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f...	OMIM:180870
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Joint stiffness, Ab...	ORPHA:969
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia	OMIM:277150
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac...	ORPHA:3266
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Pseudopseudohypoparathyroidism	Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:612463
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Limited elbow extension, Enl...	OMIM:615222
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel...	ORPHA:2639
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Spondylometaphyseal Dysplasia, Type A4	Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic...	OMIM:609052
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
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Joint hypermobility, Large hands, Tapered finger	OMIM:102150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short 5th metacarpal, Abnormal hand morphology, Clinodactyly of the 5th finger, Short digit	ORPHA:228190
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular ne...	OMIM:190351
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
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
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me...	OMIM:600705
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon...	OMIM:102510
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Joint hypermob...	OMIM:610797
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Epiphyseal dysplasia, Limited elb...	ORPHA:79106
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
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
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
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
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Carpal synostosi...	OMIM:186570
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
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
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Talipes,...	ORPHA:2557
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff...	ORPHA:93308
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb	ORPHA:2489
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Acrodysostosis	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Abnormal diaphysis morphology...	ORPHA:950
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short femoral neck, Knee dislocation, Joint hypermobility, Carpal bone hypoplasia, Pes planus, Hy...	OMIM:618395
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ...	ORPHA:973
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th finger, Short 4t...	ORPHA:3210
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Multiple Synostoses Syndrome 3	Cutaneous syndactyly of toes, Broad thumb, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Short foot	OMIM:300261
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh...	OMIM:614613
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Joint hypermobility	ORPHA:238446
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo...	ORPHA:3250
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Joint h...	ORPHA:429
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow	ORPHA:3268
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly	ORPHA:294975
Eng-Strom Syndrome	Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epi...	OMIM:184260
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac...	ORPHA:1927
2q37 monosomy	Brachydactyly	DECIPHER:44
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph...	ORPHA:2370
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul...	OMIM:212780
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Czech Dysplasia	Limitation of joint mobility, Short toe, Flat capital femoral epiphysis, Short metatarsal, Narrow...	OMIM:609162
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Aplasia/hypoplasia of the extremities, ...	OMIM:146000
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Joint hypermobility, Hip...	ORPHA:63442
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of t...	OMIM:185800
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
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
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Jawad Syndrome	Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang...	OMIM:251255
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P...	OMIM:619135
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	OMIM:612916
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ...	OMIM:620662
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Talipes calcaneovalgus, Adducted thumb, Brachydactyly, Camptodactyly	ORPHA:444051
Roifman-Chitayat Syndrome	Osteopenia, Cone-shaped epiphysis, Arthritis, Short metatarsal, Short metacarpal	OMIM:613328
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif...	ORPHA:1263
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Cooks Syndrome	Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand	ORPHA:1487
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the...	OMIM:614900
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Scapul...	OMIM:602471
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Craniosynostosis 3	Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagittal craniosynostosis, ...	OMIM:615314
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Reduced bone mineral density, Brachydactyly, Delayed ossification of carpal b...	OMIM:618392
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short metatarsal...	OMIM:103580
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum, Joint hyp...	OMIM:614134
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
W Syndrome	Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia...	ORPHA:2804
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Acromesomelic Dysplasia 4	Mesomelia, Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Flared metaphysis, Pro...	OMIM:619636
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
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
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
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod...	ORPHA:3104
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Metatarsu...	OMIM:158300
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t...	ORPHA:246
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly o...	OMIM:612350
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap...	OMIM:108720
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Hypoplasia of the radius	ORPHA:2252
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly	ORPHA:357175
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Acromesomelic Dysplasia, Maroteaux Type	Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Arthrogryposis, Distal, Type 11	Limited pronation/supination of forearm, Absent proximal finger flexion creases, Talipes equinova...	OMIM:620019
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Pes planus, Pes cavus, Tapered finger	OMIM:309585
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot	OMIM:300577
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul...	OMIM:300244
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed...	ORPHA:166011
Chst3-Related Skeletal Dysplasia	Rhizomelia, Irregular epiphyses, Small epiphyses, Genu valgum, Cubitus valgus, Brachydactyly, Fle...	ORPHA:263463
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly	OMIM:615162
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of ...	ORPHA:2900
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly o...	ORPHA:376
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Limitation of joint mobility, Dumbbell-shaped femur, Sandal gap, Flared fem...	ORPHA:1427
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Tapered phal...	OMIM:611717
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangea...	OMIM:124480
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Joint hypermobility, Bra...	OMIM:301026
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat...	ORPHA:2633
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Marinesco-Sjogren Syndrome	Cubitus valgus, Pes planus, Short metatarsal, Flexion contracture, Short metacarpal, Coxa valga	OMIM:248800
Aurocephalosyndactyly	Craniosynostosis, 4-5 toe syndactyly	OMIM:109050
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Joint stiffness, Abnor...	ORPHA:916
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small epip...	OMIM:616723
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Brachydactyly	OMIM:165800
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Short 4th metacarpal, Aplasia...	ORPHA:3201
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Small hand, Cone-shaped epiphysis, Short distal phalanx of finger, Clinodactyly, Rhiz...	OMIM:614813
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Shor...	OMIM:614326
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia...	ORPHA:3320
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Short ribs, Brachydactyly, Postaxial hand polydacty...	OMIM:617405
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Limitation of joint mobility, Ectopic ossification in ligament tissue, Abno...	ORPHA:337
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of ...	OMIM:190350
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Short metatarsal, Brachydactyly, Short metacarpal	OMIM:612462
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplastic acetabulae, Limitation of joint mobility, Hypoplasia of the odo...	OMIM:607326
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle...	ORPHA:324442
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Variegate Porphyria, Childhood-Onset	Short metacarpal, Short finger	OMIM:620483
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,...	OMIM:618853
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Charlie M Syndrome	Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand,...	ORPHA:1406
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
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Cohen Syndrome	Genu valgum, Micrognathia, Single transverse palmar crease, Joint hypermobility, Narrow palm, Cub...	OMIM:216550
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Brachydactyly, Osteoarthritis	ORPHA:2762
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Slender long bone, Micrognathia, Joint hypermobility, Clinodactyly of...	OMIM:170390
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Generalized morning stiffness, Wrist flexion contracture, Arthritis, Coxa vara, Flattened metatar...	OMIM:208250
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp...	ORPHA:3098
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoarthritis	OMIM:271600
Sillence Syndrome	Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ...	ORPHA:3168
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, Short foo...	OMIM:166250
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno...	ORPHA:1837
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Broad foot, Joint hy...	OMIM:250420
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Hypoplastic pelvis...	ORPHA:2616
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Abnormal foot morphology	ORPHA:168796
Mesomelia-Synostoses Syndrome	Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Progressive forearm bowing,...	OMIM:600383
Roifman Syndrome	Short toe, Irregular femoral epiphysis, Hip contracture, Single transverse palmar crease, Short d...	OMIM:616651
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, Recurrent fractures, Joint hypermobility, Abnor...	ORPHA:281
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Joint hypermobility, 2-3 toe syndactyly, Clinod...	OMIM:261990
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger, Irregular epiphyses, Gen...	OMIM:222600
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal	OMIM:600430
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	ORPHA:217017
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Knee dislocation, Monkey wrench femoral neck...	OMIM:615777
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, ...	OMIM:610313
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn...	ORPHA:2496
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Brachydactyly, Fused cervical vertebrae	ORPHA:1436
Anauxetic Dysplasia 2	Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Brachydactyly, Metaphysea...	OMIM:617396
Multiple Synostoses Syndrome 4	Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis	OMIM:617898
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal...	ORPHA:2319
Osteoporosis	Osteoporosis	OMIM:166710
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot	DECIPHER:46
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, M...	OMIM:184250
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Nievergelt Syndrome	Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal s...	OMIM:163400
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl...	ORPHA:1352
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Cli...	ORPHA:1515
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing, Hip dysplasia	ORPHA:1858
Split-Foot Deformity With Mandibulofacial Dysostosis	Micrognathia, Toe syndactyly, Split hand, Split foot	OMIM:183700
Grange Syndrome	Increased susceptibility to fractures, Short palm, Syndactyly	ORPHA:79094
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Temtamy Syndrome	Short toe, Micrognathia, Joint hypermobility, Pes planus, Brachydactyly, Clinodactyly of the 5th ...	ORPHA:1777
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Pre...	OMIM:215150
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humer...	OMIM:211350
Distal Duplication 5Q	Absent thumb, Micrognathia, Hypoplasia of the ulna, Brachydactyly, Hypoplasia of the radius, Cran...	ORPHA:96097
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly, Joint hypermobility	OMIM:619692
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Join...	ORPHA:1824
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyse...	OMIM:101800
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgu...	OMIM:615632
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Abnormal foot morphology, Micrognathia, Radioulnar synos...	OMIM:263750
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Ectrodactyly-Polydactyly	Split hand, Split foot, Postaxial hand polydactyly	OMIM:225290
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Microg...	ORPHA:958
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif...	ORPHA:64754
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio...	OMIM:602849
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys...	OMIM:618019
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t...	ORPHA:90650
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Camptodactyly, Flexio...	ORPHA:88630
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ...	OMIM:610915
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocat...	OMIM:164900
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short clavicles, Short 4th metacarpal, Microretrognathia, Joint hypermobility	OMIM:606220
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s...	OMIM:175700
Cri-Du-Chat Syndrome	Microretrognathia, Single transverse palmar crease, Pes planus, Metatarsus adductus, Short metata...	OMIM:123450
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Brachydactyly, M...	OMIM:612813
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing...	OMIM:608940
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Abnormality of the wrist, Abnormal thumb morphology, Bilateral single tran...	ORPHA:2511
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	Short middle phalanx of finger, Talipes equinovarus, Micrognathia, Brachydactyly	OMIM:612626
Dermatoosteolysis, Kirghizian Type	Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of...	ORPHA:1657
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
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
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Micrognathia, Decreased palmar cr...	ORPHA:2980
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Brachydactyly, Patellar hypoplasia	ORPHA:464288
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Tracheomalacia, Bilateral single transverse palmar...	ORPHA:1001
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus	ORPHA:2183
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i...	OMIM:135100
Kuskokwim Syndrome	Talipes, Joint stiffness, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella	ORPHA:1149
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Micrognathia, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly...	ORPHA:444002
Pfeiffer Syndrome Type 1	Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Martsolf Syndrome 1	Broad femoral neck, Tracheomalacia, Short toe, Slender ulna, Talipes valgus, Avascular necrosis o...	OMIM:212720
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multipl...	ORPHA:86822
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Brachydactyly	ORPHA:921
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Delayed ossification of...	ORPHA:93346
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Joint hypermobility, Metatarsus adductus, Clinodactyly of the 5th finger, Hip sublu...	OMIM:619180
Pentasomy X	Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Hip dysplasia, Clinodac...	ORPHA:11
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Brachydactyly, Limited elbow extension and supination, Abnormal v...	OMIM:244600
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Clinodactyly of...	ORPHA:96148
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Postaxial foot pol...	OMIM:211750
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Auriculoosteodysplasia	Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormality of the wrist, Abnormal metacarpa...	ORPHA:114
Van Maldergem Syndrome 1	Osteopenia, Tracheomalacia, Clinodactyly, Abnormal foot morphology, Cutaneous finger syndactyly, ...	OMIM:601390
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
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
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Micrognathia, Limited elbow movement, Brachydactyly, Short foot, Proxim...	OMIM:300590
Larsen Syndrome	Hypoplastic cervical vertebrae, Tracheomalacia, Elbow dislocation, Accessory carpal bones, Knee d...	OMIM:150250
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Micrognathia, Joint hypermobility, Arachnodactyl...	ORPHA:2824
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Joint hypermobility, Deep palmar crease, Brachydactyly, Genu varu...	OMIM:619451
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Unilateral brachydactyly, Synd...	OMIM:173800
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Joint stiffness, Hypoplastic vertebral bodies, Brachy...	ORPHA:2746
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Decreased skull ossification, Clinodactyly of the 5th finger, Syndactyly	OMIM:601163
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Arachnodactyly, Brachydac...	OMIM:600325
Weill-Marchesani Syndrome	Brachydactyly, Limitation of joint mobility, Short thumb	ORPHA:3449
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Microduplication Xp11.22P11.23 Syndrome	Toe syndactyly, Pes planus, Pes cavus	ORPHA:217377
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper...	OMIM:620269
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Lowry-Wood Syndrome	Shallow acetabular fossae, Squared iliac bones, Elbow flexion contracture, Irregular epiphyses, S...	OMIM:226960
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Anauxetic Dysplasia 1	Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu...	OMIM:607095
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ...	OMIM:617866
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Pes cavus, Polydactyly, Short...	OMIM:169400
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of...	OMIM:613390
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Overlapping toe, Narr...	OMIM:610954
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Joint stiffness, Micrognathi...	ORPHA:3447
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary ...	OMIM:200980
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Achondroplasia	Hip joint hypermobility, Rhizomelia, Limited elbow extension, Trident hand, Knee joint hypermobil...	ORPHA:15
Van Maldergem Syndrome 2	Osteopenia, Cutaneous syndactyly of toes, Tracheomalacia, Clinodactyly, Cutaneous finger syndacty...	OMIM:615546
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica...	ORPHA:79443
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Flexion contracture, Clinodactyly, Syndactyly	OMIM:619091
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Joint hypermobility	ORPHA:1390
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Multiple joint contractures, Single tran...	OMIM:618143
Weill-Marchesani Syndrome 3	Joint stiffness, Brachydactyly	OMIM:614819
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact...	OMIM:608328
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of the 5th finger, Joint hyp...	ORPHA:1520
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Pes cavus, Ankle clonus, Hyperextensible hand joints, Brachydactyly, Ulnar deviatio...	OMIM:275900
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Hypoplasia of the radius, Brachy...	OMIM:617895
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease	OMIM:601224
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Micrognathia, Decreased calvarial ossification, Short clavicles, Brachy...	OMIM:614592
Stuve-Wiedemann Syndrome 2	Camptodactyly, Bowing of the long bones, Short long bone	OMIM:619751
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho...	OMIM:210720
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Hall-Riggs Syndrome	Osteoporosis, Brachydactyly, Metaphyseal dysplasia	OMIM:234250
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Brachydactyly, Short palm	ORPHA:3238
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Steinfeld Syndrome	Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ...	OMIM:184705
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Decreased calvarial ossification, Brachydactyly, Craniosynostosi...	OMIM:618265
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mesomelia	ORPHA:171866
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Metaph...	OMIM:250410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Osteoporosis	OMIM:615398
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Bilateral single transverse palmar creases, Hip contracture, Bro...	ORPHA:353298
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Craniosynostosis	ORPHA:2145
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Palmoplantar Carcinoma, Multiple Self-Healing	Finger joint hypermobility, Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Joint stiffness, Genu valgum, Abnormal metacarpal morphology, Bra...	ORPHA:1295
Nicolaides-Baraitser Syndrome	Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Abno...	ORPHA:3051
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Nager Syndrome	Aplasia/Hypoplasia of the radius, Joint stiffness, Micrognathia, Abnormality of the lower limb, A...	ORPHA:245
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Opsismodysplasia	Metaphyseal cupping, Rhizomelia, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies...	OMIM:258480
Schneckenbecken Dysplasia	Hypoplastic scapulae, Short ribs, Limb undergrowth, Dumbbell-shaped long bone, Brachydactyly, Sho...	OMIM:269250
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Flexion contracture, Hip dislocation, Short middle phalanx of the 5th finger, Cutaneous finger sy...	OMIM:203550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Slender finger, Hip subluxation, Elbow fle...	ORPHA:93360
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Metaphyseal chondrodysplasia, Hallux valgus, Pes planus, Brachydactyly, Craniosynos...	ORPHA:166035
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi...	ORPHA:3429
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Hypoplasia of the ...	OMIM:272460
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Alopecia-Intellectual Disability Syndrome	Flexion contracture, Split hand, Brachydactyly	ORPHA:2850
Rudiger Syndrome	High axial triradius, Flexion contracture, Short digit, Single transverse palmar crease	OMIM:268650
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm	ORPHA:177910
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Microretrognathia, Limitation of joint mobility, Finger syndactyl...	ORPHA:2994
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp...	ORPHA:50945
Marinesco-Sjögren Syndrome	Avascular necrosis of the capital femoral epiphysis, Metatarsus valgus, Coxa valga, Abnormal meta...	ORPHA:559
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped capital femor...	OMIM:300232
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Hip contracture,...	OMIM:618363
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Scoliosis, Proximal place...	ORPHA:1825
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, I...	ORPHA:2909
Al-Raqad Syndrome	Sandal gap, Brachydactyly, Joint hypermobility	OMIM:616459
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Failure to thrive	OMIM:617388
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Narrow palm, Brachydactyly, Camptodactyly, Flexion ...	OMIM:615547
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Tarsal sclerosis, Pigmentary retinopathy, Failure to thrive, Sclerosis of finger p...	ORPHA:404454
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Joint stiffness, Abnormal hip bone m...	ORPHA:1147
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Short metacarpal, Hammertoe	ORPHA:773
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic bone, Metaphys...	OMIM:614524
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Limited elbow extension and supination, Joint hypermobility, Brachydactyly, Dislocat...	ORPHA:401935
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi...	OMIM:617137
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5t...	OMIM:617877
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachy...	ORPHA:137834
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Brachydactyly, Single transverse palmar crease	OMIM:620062
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Micrognathia, Joint hypermobility, ...	OMIM:618659
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
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
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Camptodactyly of finger, Carpal synostosis, Cutaneou...	OMIM:148820
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Clinodactyly, Micrognathia, Acromicria, Short foot	ORPHA:254525
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti...	ORPHA:2879
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Laron Syndrome	Short toe, Micrognathia, Brachydactyly, Osteoarthritis, Abnormality of the elbow	ORPHA:633
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
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Foot polydactyly, Abno...	ORPHA:1553
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim...	ORPHA:1190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Talipes equinovarus, Short long bone	OMIM:618845
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl...	ORPHA:3186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
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 9 With Or Without Polydactyly	Osteopenia, Rhizomelia, Phalangeal cone-shaped epiphyses, Short toe, Clinodactyly of the 2nd fing...	OMIM:266920
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh...	OMIM:600373
Osteoglosphonic Dysplasia	Rhizomelia, Micrognathia, Brachydactyly, Abnormal bone ossification, Craniosynostosis	ORPHA:2645
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Abnormal periosteum morph...	ORPHA:313855
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis	OMIM:609428
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Craniofacial hyperostosis, Ab...	ORPHA:192
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Epiphyseal stippling, Brachydactyly	ORPHA:1914
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas...	OMIM:136760
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Small hand, Micrognathia, Finger syndactyly	ORPHA:1787
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cuta...	OMIM:236500
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Abnormality of the wrist, P...	ORPHA:3138
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Brachydactyly, Bilateral single transverse p...	ORPHA:1581
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj...	OMIM:278730
Kid Syndrome	Keratitis, Failure to thrive, Delayed pubic bone ossification, Limbal stem cell deficiency, Corne...	ORPHA:477
Alagille Syndrome	Clinodactyly of the 5th finger, Micrognathia, Short distal phalanx of finger, Hypoplasia of the ulna	ORPHA:52
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Chitayat Syndrome	Hallux valgus, Brachydactyly, Tracheomalacia	OMIM:617180
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Micrognathia, Adducted thumb, Brachydactyly, Abnormality of the humerus	ORPHA:1794
Acrofacial Dysostosis, Catania Type	Single transverse palmar crease, Micrognathia, Brachydactyly, Short palm	OMIM:101805
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ...	ORPHA:2655
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi...	OMIM:609128
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with rounded ...	OMIM:231050
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth	OMIM:613124
Eales Disease	Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio...	ORPHA:40923
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Narrow palm, Fused thoracic vertebrae, Syndactyly	ORPHA:1445
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Limited elbow mov...	OMIM:218600
Joubert Syndrome 33	Syndactyly	OMIM:617767
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Bra...	ORPHA:2163
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Joint hypermobility, Bowing of the long bones, Decreas...	OMIM:616229
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth...	ORPHA:94068
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Single transverse palmar crease, Promi...	OMIM:601358
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ...	OMIM:609638
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu...	ORPHA:1327
Trisomy 8P	Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal...	ORPHA:264450
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal...	ORPHA:1860
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:600906
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Pes cavus, Joint hypermobility, Pes planus, Brachydactyly, Short foot	OMIM:300354
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Joint stiffness, Limb undergrowth, Brachydactyly, Abnormal metaphy...	ORPHA:2107
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Finger syndactyly, Clinodactyly, Short neck	ORPHA:251046
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha...	OMIM:184460
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Pes planus, Syndactyly	OMIM:615284
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Rothmund-Thomson Syndrome, Type 3	Osteopenia, Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Short digit, ...	OMIM:615789
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis, Deep palmar crease, Short metacarpal	OMIM:617190
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, Brachydactyly, Camptodactyly of finger	ORPHA:2863
Lujan-Fryns Syndrome	Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodactyly, Brachydactyly	ORPHA:776
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Humeroradial synostosis, Arachn...	ORPHA:95699
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly, Cone-shaped ...	OMIM:615630
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Syndactyly	OMIM:616006
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Orofaciodigital Syndrome Xvii	Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd...	OMIM:617926
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly	ORPHA:261272
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Decreased skull ossification, Stenosis of the medullary cavity of the long bones, Cal...	ORPHA:93324
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Brachydactyly, Tapered finger	ORPHA:317
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar...	ORPHA:915
Fetal Encasement Syndrome	Lower limb undergrowth, Upper limb undergrowth	OMIM:613630
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndacty...	ORPHA:93259
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn...	ORPHA:239
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the odontoid process, Clinodactyly, Radial deviation of finger, H...	OMIM:305400
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Brachydactyly, Short toe, Broad foot	ORPHA:3085
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas...	OMIM:617425
Jansen-De Vries Syndrome	Small hand, Short foot, Brachydactyly	OMIM:617450
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Narrow foot, Single transverse palmar crease, Pes valgus, Pes pl...	ORPHA:2896
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly, Joint hypermobility	OMIM:602501
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Gracile Bone Dysplasia	Slender long bone, Brachydactyly, Flared metaphysis, Decreased skull ossification	OMIM:602361
Grange Syndrome	Finger clinodactyly, Increased susceptibility to fractures, Brachydactyly, Recurrent fractures, S...	OMIM:602531
Inverted Duplicated Chromosome 15 Syndrome	Joint hypermobility, 2-3 toe syndactyly, Talipes equinovarus, Brachydactyly, Clinodactyly of the ...	ORPHA:3306
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom...	ORPHA:2839
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho...	ORPHA:1106
Warburg-Cinotti Syndrome	Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, L...	OMIM:618175
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,...	ORPHA:896
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ...	OMIM:158310
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles, Pes planus, S...	ORPHA:370930
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Trichorhinophalangeal Syndrome Type 2	Avascular necrosis of the capital femoral epiphysis, Genu valgum, Bilateral single transverse pal...	ORPHA:502
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Micrognathia, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Specific Granule Deficiency 2	Osteopenia, Sandal gap, Brachydactyly	OMIM:617475
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease	OMIM:614230
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs...	OMIM:200610
Focal Dermal Hypoplasia	Midclavicular hypoplasia, Congenital hip dislocation, Finger aplasia, Toe syndactyly, 3-4 finger ...	OMIM:305600
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Pathologic fracture, Planta...	ORPHA:221016
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro...	OMIM:616145
Townes-Brocks Syndrome 1	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,...	OMIM:107480
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Joint stiffness, B...	ORPHA:1005
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abnormal metaphysis...	ORPHA:93274
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortening, Shor...	ORPHA:2347
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Micro...	ORPHA:989
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Small epiphyses, Genu valgum, Limited elbow extension, Metaphy...	OMIM:271510
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal thumb, Brachydactyly, Craniosynostosis	OMIM:604757
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Micrognathia, Talipes, Apl...	ORPHA:1234
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Pes cavus, Clinodactyly, Syndactyly	OMIM:619092
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased suscept...	ORPHA:2176
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Small hand, Syndactyly, Elbow contracture	OMIM:616489
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip...	OMIM:156400
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M...	ORPHA:783
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Plantar hyperkeratosis, Met...	ORPHA:221008
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
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Osteomyelitis, Joint hypermobility, Aplasia of the 3rd finger, Tri...	OMIM:619218
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Abnormally ossified vertebrae	ORPHA:1318
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Joint hypermobility, Brachydactyly, Shor...	OMIM:619184
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Radial-Renal Syndrome	Absent thumb, Absent radius	OMIM:179280
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima...	OMIM:619762
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact...	OMIM:613573
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Vertebral segmentation defect, Split hand, Phocomelia	ORPHA:3004
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Joint hypermobility	ORPHA:2475
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Temtamy Syndrome	Micrognathia, Talipes equinovarus, Pes planus, Brachydactyly, Short 2nd toe, Hip dislocation	OMIM:218340
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, Oligodactyly, Abno...	ORPHA:1307
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Brachydactyly, Narrow iliac wing, Increa...	OMIM:265800
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Joint contracture of the 5th finger, Joint contracture of the 4th finge...	OMIM:618914
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Micrognathia, Cubitus valgus, Hall...	OMIM:620072
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto...	OMIM:616007
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal thumb morphology, Joint hypermobility, Brachydactyly, Proximal...	ORPHA:94065
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Micrognathia, Hallux valgus, Brachydactyly, Clinodac...	ORPHA:1305
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Talipes valgus, Overlapping toe, Clinoda...	ORPHA:221120
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Abnormality of the hand, Abnormal metacarpal morphology, Brachydactyly,...	ORPHA:3194
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Clinodactyly of the 4th finger, 2-3 toe syndactyly, H...	ORPHA:485405
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Tracheomalacia, Broa...	ORPHA:93260
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Overlapping toe, Bilateral singl...	ORPHA:488642
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Toe syndactyly, Finger syndactyly, Pes cavus, Abnormal metacarpal morphology, Short hallux	ORPHA:3224
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Kenny-Caffey Syndrome, Type 1	Small hand, Slender long bone, Decreased skull ossification, Calvarial osteosclerosis, Short foot...	OMIM:244460
ERI1-related disease	Osteopenia, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:608739
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Short neck, Flattened epiphysis, Ta...	OMIM:607131
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Micrognath...	OMIM:263650
Joubert Syndrome 10	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly	OMIM:300804
Spinocerebellar Ataxia, Autosomal Recessive 20	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	OMIM:616354
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused cervical vertebrae	OMIM:609053
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm, Abnormality of the...	ORPHA:3015
Long Qt Syndrome 8	Syndactyly	OMIM:618447
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Micrognathia, Bilateral single transvers...	ORPHA:264200
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Meso...	OMIM:146510
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Femoral bowi...	ORPHA:140
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Bra...	ORPHA:1786
Silver-Russell Syndrome 1	Micrognathia, Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middl...	OMIM:180860
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Brachydactyly, Short metacarpal, Short humerus	ORPHA:508542
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Ankle flexion contracture, Absent thumb, Clinodactyly, Radial deviation of finger...	OMIM:268300
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Tarp Syndrome	Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Short sternum...	OMIM:311900
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Limitation of joint mobility, Micromelia, Broad long bones, Clubbing of fingers...	ORPHA:1865
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Nephronophthisis 15	Polydactyly	OMIM:614845
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Short metacarpal, Acetabular dysplasia	OMIM:201180
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite...	OMIM:617809
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	OMIM:272440
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane...	OMIM:614378
Joubert Syndrome 18	Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Talipes equinovarus, Postaxial polydact...	OMIM:614815
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Fibrochondrogenesis 1	Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ...	OMIM:228520
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Hip dysplasia	OMIM:618381
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly	OMIM:613195
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Wide anterior fontanel, Sacral dimple, Syndactyly	OMIM:239710
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Short finger, Acromelia, ...	ORPHA:763
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Dumbbel...	ORPHA:485
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Aplasia/H...	ORPHA:2911
X Small Rings	Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Lower limb undergrowth, J...	ORPHA:96201
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan...	OMIM:308050
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly...	OMIM:600987
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity	ORPHA:1765
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormality of the lower limb, Ta...	ORPHA:974
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Rhizomelia, Sandal gap, Micrognathia, Joint hypermobility, 2-3 toe syndactyly...	OMIM:614099
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:1770
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Sandal gap, Short tibia, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Brachydactyly, Abnormality of the elbow	ORPHA:2701
Coffin-Siris Syndrome 6	Micrognathia, Brachydactyly, Clinodactyly	OMIM:617808
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
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Tonne-Kalscheuer Syndrome	Micrognathia, Broad thumb, Pes planus, Brachydactyly	OMIM:300978
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar...	OMIM:175780
Peters-Plus Syndrome	Abnormal pelvic girdle bone morphology, Rhizomelia, Square pelvis bone, Short toe, Clinodactyly o...	OMIM:261540
Rin2 Syndrome	Brachydactyly, Pes planus, Increased susceptibility to fractures, Joint hypermobility	ORPHA:217335
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Decreased skull ossification, Narrow greater sciatic notch, Ulnar deviation of the ...	OMIM:263210
Filippi Syndrome	Limitation of joint mobility, Finger syndactyly, Bilateral single transverse palmar creases, Clin...	ORPHA:3255
22Q11.2 Deletion Syndrome	Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Optic atrophy, Failure to thrive, Mul...	ORPHA:567
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Metaphyseal irregularity, Limitation of joint mobility, Clinodact...	ORPHA:93315
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Brachydactyly, P...	ORPHA:2916
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Postaxial polydactyly, Y-shaped metacarpa...	OMIM:615996
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r...	ORPHA:2021
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Brachydactyly	OMIM:614607
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metacarpal periosteal thickening, Periosteal thickening of long tubular bone...	OMIM:161700
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Micrognathia, Brachydactyly, Bilateral single transverse palmar creases, Camptodactyly of finger	ORPHA:2083
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti...	OMIM:187600
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Short ribs, Soft...	OMIM:252600
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Polydactyly, Down-sloping shoulders...	OMIM:109400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgum, Arachnodactyly, Posta...	OMIM:619721
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Finger syndactyly, Knee flexion contracture, Single transverse palmar ...	ORPHA:435938
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheomalacia, Clinodactyly, Micrognathia, Brachydactyly, Proximal placement of thumb, Short pal...	OMIM:217980
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Cubitus valgus, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:617157
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Tibial bowing, Single...	OMIM:612651
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Micrognathia, Polydactyly, Clinodactyly of the 5th finger, Syndac...	ORPHA:397590
Smith-Magenis Syndrome	Abnormal forearm morphology, Pes planus, Brachydactyly, Broad palm, Short palm	OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Micrognathia, Talipes equinovarus, Cubitus valgus, Brachydactyly,...	OMIM:300534
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Deep palmar crease, Brachydactyly, Bone cyst	ORPHA:1752
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm	ORPHA:73246
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Micrognathia, Tibial bowing, Flexion contractu...	OMIM:601812
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Brachydactyly, Clinodactyly	OMIM:614261
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Vertebral...	ORPHA:2332
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Coxa valga, Short hallux...	ORPHA:1517
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Brachydactyly	OMIM:617763
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Toe syndactyly, Finger syndactyly, Joint hypermobility, Hand polydactyly, Foot polydactyly	ORPHA:60040
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Single transverse palmar crease, Polydactyly, Brachydactyly	OMIM:618950
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
45,X/46,Xy Mixed Gonadal Dysgenesis	Micrognathia, Short 4th metacarpal, Cubitus valgus, Hallux valgus, Muscle hypertrophy of the lowe...	ORPHA:1772
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Joint hypermobility	ORPHA:1252
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Camptodactyly of finge...	ORPHA:2710
Ellis-Van Creveld Syndrome	Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Genu valgum, Postaxial hand...	OMIM:225500
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Joint stiffness, Brachydactyly, Broad palm, Thin bony cortex, Broad ...	OMIM:277600
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Joint stiffness, Pes planus, B...	OMIM:620494
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Joint hypermobility, Brachydac...	ORPHA:2637
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Short finger, Micrognathia, Single...	OMIM:619841
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral single transverse palma...	ORPHA:794
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Single transverse palmar crease, 2-3 finge...	ORPHA:2437
Oliver Syndrome	Postaxial foot polydactyly, Prominent fingertip pads, Short toe, Camptodactyly of finger, Elbow f...	ORPHA:2920
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Micrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Sca...	OMIM:617061
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Flexion contracture	OMIM:619479
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Joubert Syndrome 23	Polydactyly	OMIM:616490
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Scoliosis, Postaxial hand polydactyly	OMIM:611560
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po...	OMIM:614175
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph...	ORPHA:2636
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Joint stiffness, Abnormal hip j...	ORPHA:85408
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
9Q21.13 Microdeletion Syndrome	Vertebral segmentation defect, Hip dysplasia, Scoliosis, Polydactyly	ORPHA:531151
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly	ORPHA:231140
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Pes valgus, Brachydactyly, Ankle clonus	OMIM:619995
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy...	OMIM:269500
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
8Q22.1 Microdeletion Syndrome	Limitation of joint mobility, Sandal gap, Finger syndactyly, Camptodactyly of finger, Craniosynos...	ORPHA:178303
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos...	ORPHA:2473
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Vertebral segm...	ORPHA:2311
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, 2-3 finger syndactyly, Absent thumb, Short thumb	OMIM:603467
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Postaxial pol...	ORPHA:435638
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Small cervical vertebral bodies, Rhizomelic arm shortening, Twelfth rib hy...	ORPHA:397715
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Abnormal foot morphology, Overlapping toe, Overlapping fingers, Mic...	OMIM:617822
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Micrognathia, Decreased calvarial ossification, Bo...	OMIM:619879
Meckel Syndrome, Type 8	Talipes equinovarus, Short neck, Polydactyly	OMIM:613885
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Congenital contracture, Brachydactyly	OMIM:620156
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the long bones, Talipes equinovarus, Short long bone	OMIM:224410
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly	OMIM:619123
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck,...	OMIM:611209
Adams-Oliver Syndrome 5	Brachydactyly, Syndactyly	OMIM:616028
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Clinodactyly, Abnormal foot morphology, Abnormality of the hand...	ORPHA:369891
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Broad foot, Short ribs, Limb un...	OMIM:269860
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Brachydactyly, Symphalangism affecti...	ORPHA:1292
Short Syndrome	Brachydactyly, Short palm, Joint hypermobility	ORPHA:3163
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
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad thu...	OMIM:101200
Orthostatic Hypotension 1	Brachydactyly, Joint hypermobility	OMIM:223360
Hamamy Syndrome	Osteopenia, Clinodactyly of the 5th finger, Micrognathia, Down-sloping shoulders, Long toe, Taper...	OMIM:611174
Lacrimoauriculodentodigital Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun...	ORPHA:2363
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Micrognathia, Joint hypermobility, Down-sloping shoulders, Brachydactyly, Clin...	ORPHA:1974
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly, Clinodactyly of ...	OMIM:200110
Smith-Magenis Syndrome	Toe syndactyly, Joint stiffness, Micrognathia, Hand polydactyly, Pes planus, Brachydactyly, Clino...	ORPHA:819
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Short 5th...	OMIM:136140
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Cubitus valgus, Hemivertebrae, Scoliosis, Patent ductus arteriosus, S...	OMIM:104350
Cinca Syndrome	Reduced bone mineral density, Brachydactyly	ORPHA:1451
Craniofrontonasal Syndrome	Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Joint hypermobilit...	OMIM:304110
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Micrognathia, Hand polydactyly, Mesoaxial polydactyly,...	ORPHA:2754
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali...	OMIM:618142
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Microretrognathia, Broad 2nd toe, Camptodactyly of finger, Elbow ...	ORPHA:1692
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Short phalanx of finger, Complete duplication ...	ORPHA:59315
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Deep plantar creases, Clinodactyly of the 5th fi...	ORPHA:254346
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r...	ORPHA:1647
Macrodactyly	Macrodactyly	OMIM:155500
Mosaic Trisomy 16	Short forearm, Short thumb, Clinodactyly, Single transverse palmar crease, Short femoral neck, Sy...	ORPHA:1708
Joubert Syndrome 16	Polydactyly	OMIM:614465
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Brachydactyly	ORPHA:79325
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Femoral bowing, Micrognathia, Talipes equinovarus, Adducted thum...	OMIM:617022
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb	OMIM:610832
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Short distal phalanx of finger, Micrognathia, Multiple joint contractures, Brachydact...	ORPHA:2959
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hallu...	ORPHA:2008
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Pes planus, Brachydactyly, Narrow iliac wi...	OMIM:300712
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip dysplasia, Scoliosis	OMIM:616362
Myhre Syndrome	Craniofacial hyperostosis, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaphysis mo...	ORPHA:2588
Methylcobalamin Deficiency Type Cble	Osteoporosis, Clinodactyly, Syndactyly	ORPHA:2169
Duane Retraction Syndrome	Preaxial hand polydactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Talipes equinovarus, Tr...	ORPHA:233
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:607361
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Brachydactyly, Camptodacty...	ORPHA:261323
Bohring-Opitz Syndrome	Short toe, Deep plantar creases, Dislocated radial head, Overlapping toe, Micrognathia, Mesomelic...	OMIM:605039
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	ORPHA:397709
Kleefstra Syndrome 1	Talipes equinovarus, Tracheobronchomalacia, Brachydactyly, Single transverse palmar crease	OMIM:610253
Trisomy 20P	Finger syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal foot morphology, ...	ORPHA:261318
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Dislocated radial head, Talipes calcaneovalgus, Micrognathia, Dysplast...	OMIM:265000
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Micrognathia, Talipes, Aplasia/Hypoplasia of the thumb, Mesomelia	ORPHA:1908
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Microretrognathia, Brachydactyly	ORPHA:457193
Coffin-Lowry Syndrome	Bifid sternum, Single transverse palmar crease, Tapered finger, Pes planus, Drumstick terminal ph...	OMIM:303600
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly, Joint hypermobility	OMIM:618505
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Single transverse p...	ORPHA:2886
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Down-sloping shoulders, Hyperextensible hand joints, Metatarsus a...	OMIM:227330
Macs Syndrome	Micrognathia, Single transverse palmar crease, Joint hypermobility, Pes planus, Brachydactyly, Os...	OMIM:613075
Alagille Syndrome 1	Short distal phalanx of finger, Hypoplasia of the ulna	OMIM:118450
Genitopalatocardiac Syndrome	Micrognathia, Brachydactyly, Postaxial hand polydactyly	ORPHA:2075
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Subperiosteal bone form...	OMIM:618188
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Brachydactyly	OMIM:612938
Joubert Syndrome 27	Polydactyly	OMIM:617120
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo...	OMIM:257850
Ritscher-Schinzel Syndrome 1	Missing ribs, Micrognathia, Syndactyly	OMIM:220210
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Micrognathia, Lim...	OMIM:122470
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finge...	ORPHA:158687
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Sandal gap, Clinodactyly of the 5th finger, Micrognathia...	ORPHA:235
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Scoliosis, Pa...	OMIM:618316
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Missing ribs, Hand polydactyly, Br...	ORPHA:7
Frontorhiny	Hypoplastic frontal sinuses, Brachydactyly, Finger clinodactyly, Camptodactyly of finger	ORPHA:391474
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly	OMIM:616954
Orofaciodigital Syndrome Xix	Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po...	OMIM:620107
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly	ORPHA:1439
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Broad foot, Postaxial polydactyly, Brachy...	OMIM:209900
Myhre Syndrome	Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Short finger, Radia...	OMIM:139210
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Micrognathia, Joint hypermobility, Brachydactyly, Hip...	OMIM:300867
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Tracheomalacia, Micrognathia, Talipes equinovarus, Camptodactyly, S...	ORPHA:314679
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, M...	OMIM:616894
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar...	ORPHA:2215
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the long bones, Tal...	OMIM:249420
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal...	OMIM:302960
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Finger syndactyly, Joint stiffness, Micrognathia, Split hand	ORPHA:1300
Teebi-Shaltout Syndrome	Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha...	OMIM:272950
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Micrognathia, Joint hyp...	ORPHA:193
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Micrognathia, Talipes equinovarus, Brachydactyly, Aplasia of the pecto...	ORPHA:1358
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Brachydactyly, Subperiosteal bon...	OMIM:259775
Radio-Tartaglia Syndrome	Micrognathia, Pes cavus, Pes planus, Brachydactyly, Tapered finger	OMIM:619312
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11 pairs of ribs,...	ORPHA:2044
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Charge Syndrome	Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hand polydactyly, Abnormal palmar...	OMIM:214800
Autosomal Recessive Robinow Syndrome	Mesomelia, Short distal phalanx of finger, Broad thumb, Toe syndactyly, Synostosis of carpal bone...	ORPHA:1507
Hajdu-Cheney Syndrome	Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Oste...	ORPHA:955
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Aplasia ...	ORPHA:3472
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Tapered finger	OMIM:601353
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius	OMIM:314390
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Clinodactyly of ...	ORPHA:217346
15q26 overgrowth syndrome	Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodactyly, Long toe, Brachydacty...	DECIPHER:81
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, 2-4 toe syndactyly, Avascular necrosis of the capital femoral epiphysis, Micrognathia...	OMIM:150230
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ...	ORPHA:1521
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Thoracic kyphosis, Single transver...	OMIM:148050
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Micrognathia, Abnormality of the lower limb, Short lower limbs...	ORPHA:1556
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 57	Joint hypermobility, Pes planus, Brachydactyly, Absent fourth finger distal interphalangeal creas...	OMIM:618050
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Prader-Willi Syndrome	Osteopenia, Small hand, Clinodactyly, Radial deviation of finger, Genu valgum, Narrow palm, Hip d...	OMIM:176270
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Micrognathia, Talipes equinovarus, Pes valgus, Pes planus, Cutaneou...	OMIM:620029
Triploidy	Micrognathia, Finger syndactyly, Decreased skull ossification	ORPHA:3376
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Scoliosis, Syndactyly	OMIM:217100
Monosomy 13Q14	Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of ...	ORPHA:1587
Vater/Vacterl Association	Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ...	OMIM:192350
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Meester-Loeys Syndrome	Broad distal phalanx of finger, Joint hypermobility, Arachnodactyly, Pes planus, Brachydactyly, J...	OMIM:300989
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Short neck, Rocker bottom foot, Scoliosis	OMIM:616038
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu va...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu va...	ORPHA:99228
Monosomy X	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu va...	ORPHA:99226
Turner Syndrome	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu va...	ORPHA:881
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Overlapping toe, Micrognathia, Distally placed thumb, Single transverse palmar creas...	OMIM:619148
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Radial deviat...	OMIM:305450
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, Joint hyperm...	ORPHA:404448
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Short long bone, Knee flexion contracture	OMIM:620454
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin lesions, Tel...	ORPHA:247691
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Acetabular dysplasia, Hypoplastic vertebral bodies, Flared iliac wing,...	ORPHA:79255
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Hyperlordosis, Clinodac...	ORPHA:568
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Single transverse pa...	OMIM:190685
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Short ribs, Postaxial polydactyly, Short clavicles, Brachydactyly, Short l...	OMIM:617088
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Absent ...	ORPHA:284160
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Thoracic scoliosis	OMIM:603387
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Broad foot, Joint hypermobility, Brach...	OMIM:616364
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Microretrognathia, Po...	ORPHA:672
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Tracheomalacia, Micrognathia, Joint hypermobility, Brachydactyly, Hip dysplasia, Syndactyly	OMIM:620654
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the...	ORPHA:464738
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Limited elbow extension and supi...	ORPHA:93932
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Lower limb asymmetry, Clinodactyly, Micrognathia, Syndactyly, Brachydactyly, Clinodactyly of the ...	ORPHA:96182
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, 11 pairs of ribs, M...	OMIM:105650
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica...	OMIM:617925
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Clinodactyly of the 4th finger, Micrognathia, Pes plan...	ORPHA:177907
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Micrognathia, 2-4 finger syndactyly, P...	OMIM:225060
Vacterl With Hydrocephalus	Absence of the sacrum, Hypoplasia of the radius, Micrognathia, Hip dislocation	ORPHA:3412
Chops Syndrome	Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia	OMIM:616368
Apert Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae fusion, Apla...	ORPHA:87
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Single transverse palmar crease, Joint hypermobility, Brachydactyly, ...	OMIM:617062
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp...	OMIM:619727
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Microretrognathia, Preaxial hand p...	OMIM:200990
Hypomagnesemia 3, Renal	Genu valgum, Rickets, Short metacarpal, Bowing of the legs	OMIM:248250
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Joint stiffness, Talipes equinovarus, Brachydactyly, Clinodactyly of the 5th finger, Flexion cont...	ORPHA:847
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, Brachydactyly, Clinodactyly	ORPHA:2209
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Corneal neovascularization, Recurrent corneal erosions, Opacification of the corneal s...	OMIM:308205
Carpenter Syndrome 2	Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, B...	OMIM:614976
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response	OMIM:614619
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Avascular necrosis of ...	ORPHA:3107
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
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palmar creases, Palm...	ORPHA:3253
Hyperekplexia 3	Hiatus hernia, Exaggerated startle response	OMIM:614618
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Single transverse palmar crease, Bilateral c...	OMIM:619777
Gorlin Syndrome	Palmar pits, Plantar pits, Arachnodactyly, Brachydactyly, Vertebral fusion	ORPHA:377
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Micrognathia, Missing ribs, Bifid distal ...	ORPHA:97360
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis, Finger syndactyly, Genu varum	ORPHA:1969
Fraser Syndrome 3	Micrognathia, Cutaneous syndactyly, Short toe	OMIM:617667
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Vertebral segment...	ORPHA:887
Hyperekplexia 1	Inguinal hernia, Exaggerated startle response, Umbilical hernia	OMIM:149400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Brachydactyly, Camptodactyly, Craniosyno...	OMIM:309590
Meier-Gorlin Syndrome 7	Preaxial hand polydactyly, Aplasia/Hypoplasia of the patella, Joint hypermobility, 2-3 toe syndac...	OMIM:617063
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Single transverse palmar crease, Pes valgus, Pes planus, Brachydactyly,...	ORPHA:466950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Pes planus, Recurrent patellar dislocation, 3-4 finger syndactyly	OMIM:615877
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Mgat2-Cdg	Osteopenia, Brachydactyly	ORPHA:79329
Alg12-Cdg	Sandal gap, Overlapping fingers, Clinodactyly of the 5th finger, Micrognathia, Talipes equinovaru...	ORPHA:79324
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Tracheomalacia, Hypoplasia of proximal radius, Micrognathia, Fibular hypoplasia, Cerv...	ORPHA:444077
Orofaciodigital Syndrome I	Microretrognathia, Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2n...	OMIM:311200
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Ayme-Gripp Syndrome	Camptodactyly, Radioulnar synostosis, Brachydactyly, Tapered finger	OMIM:601088
Smith-Lemli-Opitz Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger s...	ORPHA:818
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Fusion of middle ear ossicles, Carpal synostosis, Joint hypermobility, Bra...	OMIM:157800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Microretrognathia...	ORPHA:280633
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Joint hypermobility, Short ribs, Brachydacty...	OMIM:613610
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Brachydactyly, ...	ORPHA:306542
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, Pedal edema, ...	OMIM:236700
Monosomy 22	Finger syndactyly, Contractures of the large joints, Single transverse palmar crease, Clinodactyl...	ORPHA:96123
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Long hallux, Ove...	OMIM:618164
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers...	OMIM:300960
Jacobsen Syndrome	Micrognathia, Missing ribs, Brachydactyly, Clinodactyly of the 5th finger, Flexion contracture	OMIM:147791
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Long foot, Contracture of the proxima...	OMIM:280000
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Joint hypermobility, Brachydactyly, Clino...	ORPHA:870
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Absent distal phalanges, Joint hypermobility, Arachn...	OMIM:610168
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Scoliosis	OMIM:174300
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab...	ORPHA:2907
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly	ORPHA:2211
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Arboleda-Tham Syndrome	Microretrognathia, Lower limb asymmetry, Sandal gap, Enlarged proximal interphalangeal joints, Ge...	OMIM:616268
Genitopatellar Syndrome	Congenital hip dislocation, Inferior pubic ramus hypoplasia, Micrognathia, Patellar aplasia, Knee...	OMIM:606170
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Pes valgus, Pes planus, Brachydactyly, Short palm	ORPHA:466943
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, ...	OMIM:607932
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Abnormal foot morpholog...	ORPHA:2990
Noonan Syndrome	Osteopenia, Micrognathia, Joint hypermobility, Radioulnar synostosis, Brachydactyly, Clinodactyly...	ORPHA:648
Pgm3-Cdg	Decreased/absent ankle reflexes, Osteomyelitis, Brachydactyly	ORPHA:443811
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly	ORPHA:1519
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:617864
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent...	ORPHA:464
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly	OMIM:129400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Sacral dimple, Preaxial polydactyly	OMIM:248340
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Kyphosis, Polydactyly, Arachnodactyly, Abnormality of the cervical spine, Patent ...	ORPHA:464306
Kinsship Syndrome	Sacral dimple, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Shor...	OMIM:619297
Cog1-Cdg	Osteopenia, Rhizomelia, Micrognathia, Talipes equinovarus, Short long bone, Flat acetabular roof,...	ORPHA:263508
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Tremor, Exaggerated startle response	OMIM:620327
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Choanal Atresia	Polydactyly	ORPHA:137914
Faciocardiomelic Syndrome	Cuboid-shaped vertebral bodies, Hypoplastic pelvis, Slender long bone, Polydactyly	OMIM:612731
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar...	OMIM:617301
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Pes planus, Patellar disl...	OMIM:180849
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro...	ORPHA:1896
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ...	OMIM:247200
Toriello-Carey Syndrome	Micrognathia, Brachydactyly, Clinodactyly	ORPHA:3338
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino...	OMIM:620025
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Microretrognathia, Short thumb, Clinodactyly, Radial deviation of fin...	OMIM:613406
Alg9-Cdg	Rhizomelia, Microretrognathia, Flared metaphysis, Micrognathia, Talipes equinovarus, Narrow great...	ORPHA:79328
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly	OMIM:210900
Hartsfield Syndrome	Craniosynostosis, Ectrodactyly, Syndactyly	OMIM:615465
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Barber-Say Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Micrognathia, Brachydactyly	OMIM:209885
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Short long bone	OMIM:301110
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Talipes, Missing rib...	ORPHA:2308
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Brachydactyly, Shortening of all ph...	OMIM:211380
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Mi...	OMIM:249000
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation ...	OMIM:256520
Legius Syndrome	Clinodactyly of the 5th finger, Scoliosis, Polydactyly	ORPHA:137605
Monosomy 9Q22.3	Palmar pits, Abnormality of the vertebral column, Polydactyly, Short neck, Kyphosis	ORPHA:77301
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Adams-Oliver Syndrome 1	Talipes equinovarus, Toe syndactyly, Brachydactyly	OMIM:100300
Holoprosencephaly	Talipes, Hand polydactyly, Brachydactyly, Joint hypermobility	ORPHA:2162
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Postaxial polydactyly, Short neck	OMIM:616546
1P36 Deletion Syndrome	Lower limb asymmetry, Camptodactyly of finger, Joint stiffness, Clinodactyly of the 5th finger, 1...	ORPHA:1606
Dubowitz Syndrome	Micrognathia, Single transverse palmar crease, Pes planus, Clinodactyly of the 5th finger, Syndac...	OMIM:223370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Micrognathia, Palmoplantar keratoderma, Finger syndactyly	ORPHA:1071
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Contractures of the large joints, Failure to thrive, Exaggerated startle response	ORPHA:521426
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Cowden Syndrome	Palmoplantar keratoderma, Brachydactyly, Bone cyst	ORPHA:201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Scoliosis	ORPHA:457284
Degcags Syndrome	Osteopenia, Toe syndactyly, Short thumb, Tracheomalacia, Preaxial hand polydactyly, Genu valgum, ...	OMIM:619488
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Clinodactyly, Radial deviation of finger, Talipes calcaneovalgus, Genu valgum, Mi...	OMIM:309580
Congenital Sialidosis Type 2	Polydactyly	ORPHA:93400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hip dysplasia, Clinodactyly of the 5th finger, Scoliosis, Patent ductus art...	OMIM:616975
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Helsmoortel-Van Der Aa Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd...	OMIM:615873
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Polydactyly, Talipes, Brachydactyly, Clinodactyly of the ...	ORPHA:138
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Micrognathia, Synovitis, Cubitus valgus, Brachydactyly	OMIM:163950
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Exaggerated startle response	OMIM:617527
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, 3-4 finger cu...	OMIM:181270
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Joint hypermobility, Postaxial polyd...	ORPHA:110
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Brachydactyly, Clinodactyly of t...	ORPHA:709
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Pes cavus, Brachydactyly, Metatarsus...	OMIM:607872
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Equinovarus deformity, 11 pairs of ribs, Sireno...	ORPHA:79500
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Hennekam Syndrome	Craniosynostosis, Finger syndactyly, Abnormal foot morphology, Camptodactyly of finger	ORPHA:2136
Fraser Syndrome 2	Cutaneous syndactyly	OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Micrognathia, Syndactyly	OMIM:618820
Asparagine Synthetase Deficiency	Failure to thrive, Tremor, Exaggerated startle response	OMIM:615574
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Exaggerated startle response	OMIM:253800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, 2-4 toe cutaneous syndactyly, Sacral dimple, Polydactyly, Hallux valgus, Scoliosis...	ORPHA:268261
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Micrognathia, Joint hypermobility, Radioulnar synostosi...	OMIM:619325
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Proteus Syndrome	Macrodactyly, Lower limb asymmetry, Finger syndactyly, Cranial hyperostosis, Joint stiffness, Cli...	ORPHA:744
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Short distal phalanx of finger, Micrognathia, Absent distal phalanges, ...	OMIM:612289
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Alstrom Syndrome	Scoliosis, Kyphosis, Polydactyly	OMIM:203800
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Short long bone, Bilateral ta...	OMIM:306955
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Scoliosis, Polydactyly	OMIM:301022
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short femur, Patent ductus arteriosus, Short humerus, Polydactyly	ORPHA:17
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Joint hypermobility, Cutaneous syndactyly, Long fingers	OMIM:620330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteoporosis of vertebrae, Abnormal digit morphology, Decreased cervical spine mobility, Polydactyly	ORPHA:95494
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Broad thumb, Knee dislocation, Polydactyly, Broad first metatarsal, Joint hypermobili...	OMIM:619534
Microphthalmia, Syndromic 1	Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger...	OMIM:309800
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Cutaneous syndactyly	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Pes planus, Addu...	ORPHA:261537
Okamoto Syndrome	Hip dysplasia, Scoliosis, Polydactyly	ORPHA:2729
Mowat-Wilson Syndrome	Broad hallux, Genu valgum, Long toe, Hallux valgus, Syndactyly, Adducted thumb, Ulnar deviation o...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Pes planus, Addu...	ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Uterine prolapse, Exaggerated startle response, Osteoporosis, Dystonia	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Sfrp2

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 Sfrp2.

No publications found that use IMPC mice or data for Sfrp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sfrp2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sfrp2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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