Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
homeobox A13
Synonyms:
Hox-1.10

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Hoxa13 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 Hoxa13 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Hoxa13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Toes, Space Between First And Second
Sandal gap OMIM:189230
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hallux Varus-Preaxial Polysyndactyly Syndrome
Clinodactyly of the 5th finger, Sandal gap ORPHA:2110
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Symphalangism, Proximal, 1B
Proximal/middle symphalangism of 5th finger, Abnormal finger flexion crease, Clinodactyly of the ... OMIM:615298
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Cli... OMIM:616849
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Keratosis Palmaris Et Plantaris With Clinodactyly
Clinodactyly of the 5th finger OMIM:148520
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Thumb Deformity
Aplasia/Hypoplasia of the thumb OMIM:188100
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Renal agenesis, Short stature, Short distal phalanx of fing... ORPHA:1471
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Adactylia, Unilateral
Adactyly, Short thumb OMIM:102650
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Acrorenal Syndrome
Finger aplasia OMIM:102520
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Cleidorhizomelic Syndrome
Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger OMIM:119650
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome... ORPHA:2632
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid distal ... ORPHA:2669
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Abnor... ORPHA:971
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split foot, Split hand, Tapered finger, Severe short stature OMIM:220600
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... OMIM:618435
Split-Hand And Split-Foot With Hypodontia
Split foot, Split hand OMIM:183500
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Talonavicular Coalition
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... OMIM:186750
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... OMIM:236700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Cooks Syndrome
Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly ORPHA:1487
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... OMIM:226900
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Split hand OMIM:183700
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly, Craniosynostosis OMIM:614416
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly, Abnormal... DECIPHER:46
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... OMIM:186570
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly ORPHA:391646
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Tetrasomy X
Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia ORPHA:9
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
2q37 monosomy
Brachydactyly DECIPHER:44
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid distal phalanx of the thumb, Short... OMIM:256200
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Finger aplasia OMIM:172880
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Metaphysea... ORPHA:750
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro... ORPHA:93351
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Disproportiona... OMIM:609052
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Chromosome 20Q11-Q12 Deletion Syndrome
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly OMIM:614257
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly ORPHA:294975
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly OMIM:615995
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Eng-Strom Syndrome
Arthritis, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation ORPHA:1937
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Short statu... OMIM:216100
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Abdominal pa... ORPHA:3109
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Bowing of... OMIM:617974
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly OMIM:610313
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Oligodactyly, Absent fo... OMIM:201170
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Gastroparesis, Intestinal pseud... OMIM:619350
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal OMIM:604381
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Brachydactyly ORPHA:1277
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Finger clinodactyly, Camptodactyly ORPHA:444051
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Wormian bones, Brachydactyly ORPHA:2787
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Short stature, Brachydactyly, Short distal phalanx of the... ORPHA:79445
Ring Chromosome 8 Syndrome
Deviation of finger, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:3268
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Arthropathy, Carpal osteolysis OMIM:277950
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
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
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subluxation, Abn... ORPHA:2619
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Tetralogy of Fallot, Ambiguous genita... OMIM:615542
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Split hand, Weakness of the intrinsic hand muscles, Joint contract... ORPHA:399086
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... OMIM:193530
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Hand muscle atrophy, Hand muscle weakness ORPHA:100998
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... OMIM:618728
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerul... ORPHA:85450
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Alopecia-Intellectual Disability Syndrome
Split hand, Hypergonadotropic hypogonadism, Short stature, Growth delay, Brachydactyly ORPHA:2850
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
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Anorectal anomaly, Bifid scrotum, Bladder duplication... ORPHA:237
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Image Syndrome
Hypospadias, Micromelia, Hydronephrosis, Metaphyseal dysplasia, Hypogonadism, Intrauterine growth... ORPHA:85173
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly OMIM:619248
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
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
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Feingold Syndrome 2
Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short s... OMIM:614326
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... ORPHA:429
Myopathy, Distal, 3
Split hand, Joint contracture of the hand OMIM:610099
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Prenatal Bowing
Bowing of the long bones OMIM:264050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly, Hypogonadism OMIM:615982
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal thumbs, Brachyd... OMIM:124480
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate OMIM:236110
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Brachydactyly, Type E2
Short stature, Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Aplasia/H... ORPHA:337
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormality of the upper urinary tract, Micromelia, Short stature,... ORPHA:2145
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Enlarged joints, Cutaneous s... ORPHA:166024
Mmep Syndrome
Split foot, Triphalangeal thumb ORPHA:3434
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus OMIM:607831
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Decrease... ORPHA:90796
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly... OMIM:615314
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Abnormal acetabulum morpholo... ORPHA:79106
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
2-3 toe syndactyly, Clinodactyly OMIM:619311
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Split hand, Hammertoe, Thenar muscle weakness OMIM:118300
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand OMIM:103300
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u... OMIM:249600
Split-Hand/Foot Malformation 3
Renal hypoplasia, Split hand, Camptodactyly OMIM:246560
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn... ORPHA:3104
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Desmoid Tumor
Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pain, Abnorm... ORPHA:873
Acces Syndrome
Clinodactyly of the 5th finger, Ectrodactyly, Split foot, Hip dysplasia, Horseshoe kidney, Hip di... OMIM:619959
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m... ORPHA:3210
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Postaxial foot p... OMIM:617405
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Brachydactyly, Preaxial hand p... ORPHA:1278
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Broad hallux, Short thumb, Brachydactyly, Prematur... OMIM:165800
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly OMIM:300928
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal ORPHA:228190
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly OMIM:618453
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Clinodactyly ORPHA:500166
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Jeune Syndrome
Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Abnormal pelvic gir... ORPHA:474
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Premature ovarian insufficiency, Split hand OMIM:618124
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Single transverse palmar cre... OMIM:617927
Charcot-Marie-Tooth Disease, Type 4B2
Hammertoe, Split hand, Ulnar claw, Talipes equinovarus OMIM:604563
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... ORPHA:85166
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Ectrodactyly, Short stature, Primary amenorrhea, Hypogonadotropic hypogonadism, ... OMIM:147950
Keipert Syndrome
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Clinodac... OMIM:301026
Vertical Talus, Congenital
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hammertoe, Split hand, Ulnar claw OMIM:118220
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Ectrodact... ORPHA:397590
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Split hand, Thenar muscle weakness OMIM:270685
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
Patent Ductus Arteriosus 2
Clinodactyly of the 5th finger OMIM:617035
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Short stature, Lower limb undergrowth, Brachydactyly, Bowing of the legs OMIM:612847
Bardet-Biedl Syndrome 19
External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Renal insufficiency OMIM:615996
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Short stature, Hydronephrosis,... OMIM:613390
Macdermot-Winter Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Hydronephrosis OMIM:247990
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the ovary, Na... ORPHA:543
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Micromelia, Short statur... ORPHA:2928
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Prune Belly Syndrome
Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin... ORPHA:2970
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... ORPHA:989
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Short femoral neck, Br... OMIM:146000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger ORPHA:376
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Sandal gap OMIM:251220
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation ORPHA:178382
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Synostosis... ORPHA:90650
Charcot-Marie-Tooth Disease Type 4D
Upper limb amyotrophy, Split hand, Hammertoe, Distal upper limb muscle weakness ORPHA:99950
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Renal agenesis, Dysmenorrhea,... ORPHA:3411
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
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Lamb-Shaffer Syndrome
Overlapping toe, Long fingers, Clinodactyly, Long hallux OMIM:616803
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Split hand, Short stature ORPHA:3004
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly OMIM:618879
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Genu recurvatum, ... ORPHA:2900
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hammertoe, Split hand, Ulnar claw OMIM:118200
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Short hallux OMIM:216300
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Bowing of the long bones, Brachydactyly ORPHA:40
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Neonatal death, Absent th... OMIM:251230
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... ORPHA:2768
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia ORPHA:2513
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang... OMIM:186400
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Short palm, Clinodactyly ORPHA:73273
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Infundibulopelvic Dysgenesis
Microscopic hematuria, Abdominal pain, Multicystic kidney dysplasia OMIM:600989
Aurocephalosyndactyly
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Pfeiffer Syndrome Type 1
Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short palm, Hallux... ORPHA:93258
Acromicric Dysplasia
Abnormal femur morphology, Short metacarpal, Short palm, Severe short stature, Fifth metacarpal w... ORPHA:969
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Hartsfield Syndrome
Intrauterine growth retardation, Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius ORPHA:2117
Multiple Synostoses Syndrome 4
Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus OMIM:617898
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Pes planus OMIM:620393
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Hip subluxation, Genu valgum, Multiple joint dislocation, Flat capital femoral epiphysis, Metaphy... ORPHA:93360
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Cu... OMIM:608739
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Czeizel-Losonci Syndrome
Congenital megaureter, Hitchhiker thumb, Single transverse palmar crease, Ectrodactyly, Split foo... ORPHA:2437
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph... ORPHA:166011
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
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
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... OMIM:617914
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Delayed cranial suture closure, Short lon... OMIM:113000
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Moderat... OMIM:113300
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac... ORPHA:1856
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Broad thumb, Aplasi... ORPHA:2662
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Bardet-Biedl Syndrome 6
Renal cyst, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Genu recurvatum, Split hand, Hypergonadotropic hypogonadism, Short stature, Primary amenorrhea, H... OMIM:604168
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Vaginal atresia, Hy... OMIM:616258
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Absen... OMIM:618658
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Odontochondrodysplasia 1
Mesomelic short stature, Nephronophthisis, Irregular epiphyses, Small epiphyses, Cone-shaped epip... OMIM:184260
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand OMIM:617882
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Short middle phalanx of finger, Brachydactyly, Intrauterine growth re... OMIM:612626
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Carpenter Syndrome
Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly, Broad ... ORPHA:65759
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia ORPHA:1858
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Short stature, Brachydactyly, Stage 5 chronic kidney disease OMIM:613819
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Infertility, Short metacarpal, Short stature, Micropenis ORPHA:261524
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s... OMIM:244600
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ... ORPHA:319675
Metatropic Dysplasia
Narrow greater sciatic notch, Disproportionate short-limb short stature, Flat acetabular roof, Lo... OMIM:156530
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Oligodactyly, Ectrodactyly ORPHA:3016
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent 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
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hy... ORPHA:752
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Small thenar eminence, Ulnar d... OMIM:140000
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Ana... ORPHA:2973
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Oslam Syndrome
Radial deviation of finger, Clinodactyly, Radioulnar synostosis OMIM:165660
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... OMIM:108120
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly ORPHA:1436
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Short metacar... OMIM:151200
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Abdominal pain, Vesicoureteral reflux,... ORPHA:617
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr... OMIM:227270
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 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar... OMIM:102370
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Holt-Oram Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o... ORPHA:392
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligozoospermia, Obstructive azoospermia ORPHA:48
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Abnormality of the kidney, Short greater sciatic notch, Femoral b... ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 72
Shawl scrotum, Micropenis, Renal hypoplasia, Feeding difficulties OMIM:620439
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Split hand OMIM:610127
Orofaciodigital Syndrome Xv
Duplication of phalanx of hallux, Hydronephrosis, Postaxial hand polydactyly, Broad hallux OMIM:617127
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Split hand OMIM:614707
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Anauxetic Dysplasia 2
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Short stature,... OMIM:617396
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... ORPHA:2831
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Anal atresia, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hyper... OMIM:601389
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Sclerotic cranial sutures,... OMIM:259600
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Short metatarsal, Upper limb undergrowth, Short metacarpal,... OMIM:271650
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Cach Syndrome
Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Vomiting, Renal hypopl... ORPHA:135
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia OMIM:277180
Bresek Syndrome
Aganglionic megacolon, Vesicoureteral reflux, Hypoplasia of the bladder, Decreased testicular siz... ORPHA:85284
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Short stature, Hydronephrosis, Abnormal localization of kidney, Intraut... ORPHA:195
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Intrinsic hand muscle atrophy, Urinary incontinence, Split hand OMIM:616688
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Prieto Syndrome
Radial deviation of finger, Coxa valga, Patellar dislocation, Patellar subluxation, Clinodactyly,... OMIM:309610
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Zaki Syndrome
Broad distal phalanx of finger, Ectrodactyly, Hypoplasia of the phalanges of the toes, Renal agen... OMIM:619648
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Boudin-Mortier Syndrome
Pseudoepiphysis of the 1st metacarpal, Pseudoepiphyses of the proximal phalanges of the hand, Pse... OMIM:619543
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis ORPHA:171839
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... ORPHA:363417
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Split hand, Hand musc... ORPHA:101097
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Trichothiodystrophy 9, Nonphotosensitive