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 3.06×10-06
abnormal vitreous body morphology Zbtb16em1(IMPC)Mbp HOM   Early adult 6.00×10-07
abnormal spleen morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
small liver Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Zbtb16em1(IMPC)Mbp HOM Early adult 2.26×10-15
abnormal testis morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
small spleen Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal autopod morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.26×10-07
abnormal heart morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Zbtb16em1(IMPC)Mbp HOM Early adult 9.33×10-10
enlarged heart Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal gait Zbtb16em1(IMPC)Mbp HOM Early adult 2.78×10-20
corneal opacity Zbtb16em1(IMPC)Mbp HOM   Early adult 2.77×10-05
abnormal auditory brainstem response Zbtb16em1(IMPC)Mbp HOM   Early adult 2.88×10-06
small testis Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal hindlimb morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.26×10-07
abnormal digit morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.32×10-12
decreased total body fat amount Zbtb16em1(IMPC)Mbp HOM Early adult 2.98×10-06
abnormal brain morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal optic disk morphology Zbtb16em1(IMPC)Mbp HOM Early adult 2.60×10-09
cataract Zbtb16em1(IMPC)Mbp HOM   Early adult 5.05×10-07
increased freezing behavior Zbtb16em1(IMPC)Mbp HOM Early adult 6.10×10-09
decreased prepulse inhibition Zbtb16em1(IMPC)Mbp HOM Early adult 1.60×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Histopathology

Images

1 Images

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
Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, Leukopenia,... 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 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 17
Male infertility OMIM:617214
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Broad Terminal Phalanges, Familial
Broad distal phalanx of the toes, Broad distal phalanx of finger OMIM:602071
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Abn... OMIM:616849
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Cervical Rib
Cervical ribs OMIM:117900
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Abnormality of the vertebral column, Upper limb phocom... ORPHA:294975
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism OMIM:615988
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of... OMIM:119650
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S... OMIM:618167
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, Iliac crest s... ORPHA:93317
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Tibial Torsion, Bilateral Medial
Scoliosis, Bowing of the legs, Tibial torsion OMIM:188800
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Labial hypoplasia, Short 2nd toe, Cuboid-shaped vertebral bod... ORPHA:1326
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Abnormal clavicle morphology, Bilateral single transverse palmar crea... ORPHA:1453
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Talipes, Clinodactyly of the 5th finger, Cubitus v... ORPHA:1836
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Scholte Syndrome
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Decreased testicular size, Micropenis, Short foo... OMIM:300977
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... ORPHA:1263
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, Short metacar... OMIM:132400
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Cousin Syndrome
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract... OMIM:260660
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Otoonychoperoneal Syndrome
Ankle flexion contracture, Straight clavicles, Hip contracture, Knee flexion contracture, Aplasia... OMIM:259780
Atelosteogenesis Type Iii
Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,... ORPHA:56305
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Elevated circulating l... OMIM:305400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Smith-Mccort Dysplasia 2
Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin... OMIM:615222
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Scoliosis, Micrognathia, Patellar hypoplasia, Hypogonadism OMIM:251240
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... ORPHA:1149
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Increased serum testosterone level, Abnormal vagina morphology, Abnormality of th... ORPHA:247768
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Absent sternal ossification, Pectus carinatum, Short ribs, Coxa valga, Genu... OMIM:224690
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis... ORPHA:96061
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Pes cavus, External genital hypoplasia, Patellar hypoplasia, Patellar subluxation... ORPHA:3041
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Talipes calcane... OMIM:265000
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Penoscrotal Transposition
Penoscrotal transposition, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi... ORPHA:2842
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ... ORPHA:90652
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Short neck OMIM:168400
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Bardet-Biedl Syndrome 10
Polydactyly, Hypogonadism OMIM:615987
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... ORPHA:566943
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a... OMIM:607326
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Nail-Patella Syndrome
Abnormal femur morphology, Spondylolysis, Spondylolisthesis, Dislocated radial head, Pectus excav... ORPHA:2614
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Gordon Syndrome
Talipes, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Pectus excavatum, Camptoda... ORPHA:376
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Male ... ORPHA:99330
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Amelia, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Recombinant 8 Syndrome
Bilateral single transverse palmar creases, Deep plantar creases, Clinodactyly of the 5th finger,... ORPHA:96167
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Narrow chest, Scoliosis, Short metacarpal, Kyphosis, M... OMIM:180870
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimpl... OMIM:206920
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Bowing of the long bones, Short lower l... ORPHA:2501
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Micrognathia,... OMIM:311895
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Platyspondyly ORPHA:168555
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Young Syndrome
Azoospermia OMIM:279000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Narrow chest, Scoliosis, Short long bone, Brachydactyly OMIM:613819
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me... ORPHA:85198
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Pectus excavatum, Long fibula ORPHA:935
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Meier-Gorlin Syndrome 3
Breast hypoplasia, Clitoral hypertrophy, Patellar hypoplasia, Talipes equinovarus, Hypospadias, S... OMIM:613803
ERI1-related disease
Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest... OMIM:608739
Clark-Baraitser syndrome
Genu valgum, Genu recurvatum, Scoliosis, Kyphosis, Short palm, Macroorchidism, Broad palm, Tapere... OMIM:300602
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Roberts Syndrome
Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes... ORPHA:3103
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... OMIM:610442
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Disorganization, Mouse, Homolog Of
Hand polydactyly, Limb duplication, Sacral meningocele, Hip dislocation OMIM:223200
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Hypogonadism, Clinodactyly OMIM:615984
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi... OMIM:602875
Prenatal Bowing
Bowing of the long bones OMIM:264050
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Butterfly vertebr... ORPHA:958
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... OMIM:618728
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp... ORPHA:93304
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Equinus calcaneus, Achilles tendon contr... ORPHA:178382
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Breast hypoplasia, Slender long bone, Genu recurvatum, Micrognathia, Patel... OMIM:613804
Mccune-Albright Syndrome
Decreased fertility, Abnormal femur morphology, Increased serum testosterone level, Scoliosis, Ab... ORPHA:562
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
9Q33.3Q34.11 Microdeletion Syndrome
Fixed elbow flexion, Patellar hypoplasia, Single transverse palmar crease, Bilateral coxa valga, ... ORPHA:495818
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Meier-Gorlin Syndrome 5
Slender long bone, Elbow dislocation, Prominent metopic ridge, Hypoplasia of the capital femoral ... OMIM:613805
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Megalencephaly
Short neck, Genu valgum, Macroorchidism, Long penis ORPHA:2477
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Seckel Syndrome 1
Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Cone-shaped epiphy... OMIM:210600
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Fryns-Smeets-Thiry Syndrome
Scoliosis, Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation ORPHA:2058
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Short ribs, Short metacarpal, Abnormal forearm bone morphology, Mesomelia, ... ORPHA:3404
Genitopatellar Syndrome
Clitoral hypertrophy, Knee flexion contracture, Hypoplastic ilia, Hypoplastic ischia, Short palm,... ORPHA:85201
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Li-Campeau Syndrome
Patellar hypoplasia, Single transverse palmar crease, Hypothyroidism, Patent ductus arteriosus, C... OMIM:619189
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, Genu valgum, External genital hypoplasia, Craniosynostosis, Finger s... ORPHA:65759
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Abnormality of the endocrine system, Short fourth metatarsal, Pseudohypopara... ORPHA:464288
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Fragile X Syndrome
Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Scoliosis, Macroorchidis... OMIM:300624
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl... OMIM:610313
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Decreased circulating... OMIM:146510
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Long penis, Abnormal sacrum morphology, Scoliosis,... ORPHA:1988
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... OMIM:602557
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae,... OMIM:620076