Gene Summary

Name:
zinc finger and BTB domain containing 16
Synonyms:
Zfp145,  Green's luxoid,  PLZF

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased lean body mass Zbtb16em1(IMPC)Mbp HOM Early adult 1.43×10-06
decreased total body fat amount Zbtb16em1(IMPC)Mbp HOM Early adult 1.39×10-06
abnormal auditory brainstem response Zbtb16em1(IMPC)Mbp HOM   Early adult 4.17×10-06

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Viewing: all phenotypes

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 Zbtb16 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.

The table below shows human diseases associated to Zbtb16 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520

The table below shows human diseases predicted to be associated to Zbtb16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Broad Terminal Phalanges, Familial
Broad distal phalanx of the toes, Broad distal phalanx of finger OMIM:602071
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short distal phalanx of the 2nd finge... OMIM:616849
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Cervical Rib
Cervical ribs OMIM:117900
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618498
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Polydactyly, Lateral clavicle hook, Brachydactyly OMIM:617405
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Abnormal thorax morphology, Hi... OMIM:605274
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short ph... OMIM:300106
Immunodeficiency 40
Lymphopenia OMIM:616433
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... ORPHA:166016
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Schneckenbecken Dysplasia
Diaphyseal thickening, Lateral clavicle hook, Hypoplastic scapulae, Abnormal form of the vertebra... ORPHA:3144
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Abnormal thorax morphology, Syndactyly, Upper l... ORPHA:294975
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap... ORPHA:2502
Eiken Syndrome
Abnormal acetabulum morphology, Limited elbow flexion, Broad palm, Narrow pelvis bone, Metaphysea... ORPHA:79106
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... OMIM:250220
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of... OMIM:119650
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodies, ... ORPHA:3104
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Scoliosis, Tibial torsion, Bowing of the legs OMIM:188800
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Pectus excavatum, Fibular hypoplasia OMIM:607278
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the elbow, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... OMIM:260660
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... OMIM:609052
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ... OMIM:601376
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Pectus excavatum, Flat capital femoral epiphysis, Micro... OMIM:601560
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... OMIM:182255
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Bardet-Biedl Syndrome 12
Hypogonadism, Polydactyly OMIM:615989
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Hand oligodactyly OMIM:172880
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... ORPHA:2141
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Acropectoral Syndrome
Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... OMIM:605967
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platyspondyly, Rhizomelic arm sh... ORPHA:93317
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Pectus excavatum, Short 2nd toe, Talipes equinovarus, Labial hypoplasia, Cuboid-sh... ORPHA:1326
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Cleidorhizomelic Syndrome
Diaphyseal thickening, Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of the 5th ... ORPHA:1453
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Scholte Syndrome
Kyphoscoliosis, Small hand, Acromicria, Short foot, Micropenis, Patellar hypoplasia, Decreased te... OMIM:300977
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Ab... OMIM:164900
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... OMIM:618167
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly ORPHA:3314
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Costochondral pai... OMIM:118610
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Liebenberg Syndrome
Elbow flexion contracture, Metaphyseal widening, Radially deviated wrists, 2-3 finger syndactyly,... OMIM:186550
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Metaphyseal Dysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Metaphyseal sclerosi... OMIM:250400
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Avascular necrosis of the ca... OMIM:132400
Langer Mesomelic Dysplasia
Madelung deformity, Radial bowing, Micrognathia, Broad ulna, Hypoplasia of the radius, Mesomelia,... OMIM:249700
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Pectus carinatum, S... OMIM:615222
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... OMIM:612447
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Genu varum, Pectus carinatum, Hyperconvex vertebral body endp... OMIM:184255
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Humeroradial synostosis OMIM:614416
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Otoonychoperoneal Syndrome
Ankle flexion contracture, Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Straight c... OMIM:259780
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism, Micrognathia, Scoliosis, Patellar hypoplasia OMIM:251240
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals OMIM:618724
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Irregular patellae, Patellar hypoplasia, Broad femoral neck, Sh... OMIM:609325
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Abnormality of the lower limb, Bowi... ORPHA:1040
Aarskog-Scott Syndrome
Elevated circulating follicle stimulating hormone level, Pes planus, Syndactyly, Elevated circula... OMIM:305400
Omodysplasia 1
Limited elbow flexion, Micrognathia, Popliteal pterygium, Rhizomelia, Limited knee flexion/extens... OMIM:258315
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Reduced spe... OMIM:602271
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius, Abnormal form of th... ORPHA:1149
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Narrow chest, Mesomelia, Postaxial hand pol... OMIM:611263
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Hypoplastic nipples, Talipes equinovarus, Syndactyly, Dysplastic patella, Micrognath... OMIM:265000
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... ORPHA:1788
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Shield ... ORPHA:247768
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Micrognathia, Talipe... OMIM:211920
Craniosynostosis-Fibular Aplasia Syndrome
Fibular aplasia, Talipes, Abnormal sternum morphology, Wormian bones, Short neck, Sacral dimple, ... ORPHA:1533
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies,... ORPHA:1837
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Mosaic Trisomy 8
Micrognathia, Patellar aplasia, Deep palmar crease, Narrow pelvis bone, Short neck, Narrow chest,... ORPHA:96061
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Penoscrotal Transposition
Hypospadias, Micrognathia, Patellar aplasia, Pectus carinatum, Abnormal external genitalia, Abnor... ORPHA:2842
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Brachydactyly, Type A4
Talipes calcaneovalgus, Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger... OMIM:112800
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Ovoid vertebra... OMIM:102370
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Fin... OMIM:274000
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Metatarsus adductus, 2-3 toe syndactyly, 4-5 toe syndactyly, Lumbar kyphosis in infancy, Patellar... ORPHA:3041
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... ORPHA:474
Phocomelia, Schinzel Type
Fibular aplasia, Aplasia of the uterus, Radial bowing, Hand oligodactyly, Hypoplasia of penis, Mi... ORPHA:2879
47,Xyy Syndrome
Hypospadias, Macroorchidism, Oligospermia, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Young Syndrome
Azoospermia OMIM:279000
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Micrognathia, Hypoplastic frontal sinuses, Abnormal vertebral... ORPHA:90652
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Mesomelic/rhizomelic limb s... ORPHA:1354
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia of the uterus, Hypoplastic ... OMIM:276820
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Pectus carinatum, Abnormalit... ORPHA:93351
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... ORPHA:166024
Nail-Patella Syndrome
Abnormality of the knee, Talipes equinovarus, Cubitus valgus, Pes planus, Contracture of the dist... ORPHA:2614
Mueller-Weiss Syndrome
Abnormality of the os naviculare pedis, Positional foot deformity, Facet joint arthrosis, Limitat... ORPHA:566943
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality... ORPHA:2768
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Toe syndactyly, Amelia, Syndactyly, Clinodactyly of the 5th finger OMIM:601163
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Short ribs, Sprengel anomal... OMIM:173800
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Talipes equinovarus, Absent radius, Short tibia, Narrow ch... OMIM:251230
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Pear-sh... OMIM:602111
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... OMIM:613091
Gordon Syndrome
Pectus excavatum, Talipes, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi... ORPHA:376
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Genu valgum, Sandal gap, Preaxial polydact... OMIM:617927
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Jawad Syndrome
Hallux valgus, 4-5 toe syndactyly, Short middle phalanx of the 5th finger, Thoracic scoliosis, Si... OMIM:251255
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Metaphyseal irregularity, Lo... OMIM:610442
Recombinant 8 Syndrome
Micrognathia, Pectus excavatum, Patellar aplasia, Abnormal sternum morphology, Small scrotum, Pat... ORPHA:96167
49,Xyyyy Syndrome
Micrognathia, Lower limb asymmetry, Azoospermia, Decreased serum testosterone concentration, Larg... ORPHA:99330
Nail-Patella Syndrome
Talipes equinovarus, Hypoplasia of first ribs, Quadriceps aplasia, Elongated radius, Pes planus, ... OMIM:161200
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Simplified gyral pattern, Sho... OMIM:617604
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Narrow chest, Short foot, Limited elbow... OMIM:180870
Fibrochondrogenesis 1
Broad ischia, Short ribs, Joint contracture of the hand, Camptodactyly, Short long bone, Anterior... OMIM:228520
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Chromosome 16P13.3 Duplication Syndrome
Pectus excavatum, Tapered finger, Long fingers, Short toe, Proximal placement of thumb, Hip dislo... OMIM:613458
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicula... ORPHA:2790
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Coxa vara, Short palm, Micromelia ORPHA:168555
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Maternal diabetes, Thin ribs, Talipes equinovarus, Phocomelia, Apl... OMIM:266910
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Meier-Gorlin Syndrome 5
Micrognathia, Patellar aplasia, Micropenis, Slender long bone, Hypoplasia of the capital femoral ... OMIM:613805
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Pec... OMIM:271530
Dysspondyloenchondromatosis
Lower limb asymmetry, Kyphoscoliosis, Abnormality of ulnar metaphysis, Platyspondyly, Genu valgum... ORPHA:85198
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Clubbing of toes, Clubbin... ORPHA:329252
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri... OMIM:602557
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Pes planus, Clinodactyly of the 3rd toe, Oligodactyly, Clinodactyl... ORPHA:521308
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Disorganization, Mouse, Homolog Of
Hip dislocation, Limb duplication, Sacral meningocele, Hand polydactyly OMIM:223200
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Short distal ph... OMIM:311895
Clark-Baraitser syndrome
Macroorchidism, Broad palm, Tapered finger, Genu recurvatum, Kyphosis, Genu valgum, Short palm, S... OMIM:300602
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... OMIM:617719
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Meier-Gorlin Syndrome 4
Micrognathia, Patellar aplasia, Lateral clavicle hook, Genu recurvatum, Slender long bone, Crypto... OMIM:613804
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all distal phalanges of the fingers, Carpal bone malsegmentation, Co... OMIM:600593
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Clinodactyly OMIM:615984
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Long fibula, Abnormality of the metaphysis ORPHA:935
Prenatal Bowing
Bowing of the long bones OMIM:264050
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Abnormality of the metaphysis, Increased vertebral h... ORPHA:93304
Acrocapitofemoral Dysplasia
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Ovoid verteb... ORPHA:63446
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... OMIM:184260
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal gap, Short metaca... OMIM:617102
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Scol... OMIM:112350
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Atkin-Flaitz Syndrome
Macroorchidism, Broad palm, Tapered finger, Genu recurvatum, Kyphosis, Genu valgum, Short palm, S... OMIM:300431
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Abnormality of femur morphology, Goiter, Prim... ORPHA:562
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Metaphyseal irre... OMIM:184250
Exostoses, Multiple, Type I
Abnormal foot morphology, Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metaca... OMIM:133700
Brachydactyly Type A4
Talipes equinovarus, Symphalangism affecting the phalanges of the hand, Short middle phalanx of t... ORPHA:93394
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
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
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Split hand OMIM:183800
Congenital Vertical Talus
Rocker bottom foot, Achilles tendon contracture, Pes valgus, Abnormality of the foot musculature,... ORPHA:178382
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Proximal fibular overgrowth, Short 1st metacarpa... OMIM:301940
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short ribs, Narrow chest, Short long bone, Scoliosis, Brachydactyly OMIM:613819
9Q33.3Q34.11 Microdeletion Syndrome
Patellar aplasia, Talipes equinovarus, Small scrotum, Prominent metopic ridge, Fixed elbow flexio... ORPHA:495818
Chromosome 8Q22.1 Duplication Syndrome
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... OMIM:151200
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Megalencephaly
Macroorchidism, Short neck, Long penis, Genu valgum ORPHA:2477
Multiple Synostoses Syndrome 3
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... OMIM:612961
Ulbright-Hodes Syndrome
Talipes equinovarus, Phocomelia, Abnormal external genitalia, Short ribs, Hypoplasia of the radiu... ORPHA:3404
Summitt Syndrome
Syndactyly OMIM:272350
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Pectus carinatum, Hemivertebr... ORPHA:958
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hypospadias, Undulate clavicles, Short metatarsal, Short ribs, Broa... OMIM:304120
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Orofaciodigital Syndrome Iv
Toe syndactyly, Pectus excavatum, Micrognathia, Postaxial polydactyly, Short finger, Foot polydac... OMIM:258860
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Fryns-Smeets-Thiry Syndrome
Micrognathia, Patellar aplasia, Arachnodactyly, Hip dislocation, Scoliosis ORPHA:2058
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Short phalanx of finger, Lower limb undergrowth, Delayed ossification of carpa... OMIM:127200
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Protuberances at end... OMIM:133701
Seckel Syndrome 1
Hypospadias, Micrognathia, Single transverse palmar crease, Ivory epiphyses, Talipes, Elbow flexi... OMIM:210600
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... ORPHA:93314
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Bardet-Biedl Syndrome 19
Hypogonadism, Polydactyly OMIM:615996
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... ORPHA:1307
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... OMIM:250460
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short 3rd metacarpal, Rounded epiphyses, Broad distal phalanx of finger, Broa... OMIM:255980
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Wt Limb-Blood Syndrome
Micrognathia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Short thumb, Absent thumb... OMIM:194350
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... OMIM:113000
Arthrogryposis, Distal, Type 1A
Adducted thumb, Rocker bottom foot, Talipes equinovarus, Hand clenching, Elbow flexion contractur... OMIM:108120
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Genitopatellar Syndrome
Micrognathia, Patellar aplasia, Radioulnar synostosis, Talipes equinovarus, Small scrotum, Knee f... ORPHA:85201
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Large for gestational age, Hearing im... OMIM:600501
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ... ORPHA:1509
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Tapered finger, Irregular vertebral endplates, Metaphyseal irregular... OMIM:618395
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Short metatarsal, Proximal placeme... OMIM:609945
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Abnormal reproductive system morphology, Kyphos... ORPHA:65759
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Short neck, Pseudohypoparathyroidism, Patellar hypoplasia, S... ORPHA:464288
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Rib segmentation abnorma... OMIM:184400
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Pectus excavatum, Short middle phalanx of finger, 2-3 toe synd... OMIM:263540
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Campomelic Dysplasia
Micrognathia, Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Bowing of the... ORPHA:140
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Abnormality of the calcaneus, Thin ribs, Hypoplastic iliac wing, Metaphyseal cuppin... ORPHA:163966
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Femoral-Facial Syndrome
Micrognathia, Maternal diabetes, Rib fusion, Talipes equinovarus, Long penis, Abnormal sacrum mor... ORPHA:1988
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Metaphyseal dysplasia, Genu varum, Pseudoepiphyses of hand bones, Metaphyseal... OMIM:613330
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Atelosteogenesis, Type Iii
Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip... OMIM:108721
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalan... ORPHA:2256
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short long bone, Limb undergrowth, Short ribs, Narrow chest, Severe platyspondyly, Hyp... OMIM:151210
Diastrophic Dysplasia
Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral bodies, Proxima... ORPHA:628
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal foot morphology, Abnormal vertebral morphology, Preaxial polydactyly, Fi... ORPHA:64754
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Increased circulating androgen concentration, ... ORPHA:79320
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhizomelia, Abnormal... ORPHA:93267
Meier-Gorlin Syndrome 1
Hypoplastic labia minora, Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Short rib... OMIM:224690
49,Xxxyy Syndrome
Abnormal plantar dermatoglyphics, Micrognathia, External genital hypoplasia, Increased circulatin... ORPHA:261534
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand po... ORPHA:1278
Gnathodiaphyseal Dysplasia