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Gene: Fmn1 MGI:101815

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
formin 1
Synonyms:
Fmn,  formin-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Fmn1 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.

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

The table below shows human diseases predicted to be associated to Fmn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Acrorenal Syndrome
Abnormal renal morphology, Hand oligodactyly OMIM:102520
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Symphalangism, Proximal, 1B
Pes planus, Abnormal finger flexion crease, Proximal/middle symphalangism of 5th finger, Clinodac... OMIM:615298
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... OMIM:186570
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... ORPHA:1040
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... ORPHA:1836
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... ORPHA:1822
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
Digitotalar Dysmorphism
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Achilles ... ORPHA:178382
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capi... OMIM:147891
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... OMIM:615170
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma... ORPHA:971
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... OMIM:271650
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head OMIM:266255
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... ORPHA:3104
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Solitary Bone Cyst
Abnormal tibia morphology, Proximal femoral metaphyseal abnormality, Lytic defects of the radius,... ORPHA:83468
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... OMIM:120400
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness ORPHA:2064
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Steel Syndrome
Carpal synostosis, Pes planus, Limited elbow extension, Hip dislocation, Coxa vara, Clinodactyly ... OMIM:615155
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... OMIM:164900
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... OMIM:618469
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Rocker bottom foot, Micrognathia OMIM:211180
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone mor... ORPHA:294975
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ... ORPHA:1471
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... ORPHA:1837
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon... ORPHA:1146
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... OMIM:614335
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join... ORPHA:1147
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... ORPHA:3320
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O... ORPHA:1657
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Radioulnar synostosis, ... ORPHA:3268
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the wrist, Abnormality of the ... ORPHA:2496
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Tarsal Coalition
Tarsal synostosis OMIM:186850
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Osteochondrosis Of The Tarsal Bone
Pedal edema, Tarsal sclerosis, Tarsal stippling, Abnormal tarsal ossification, Flattening of the ... ORPHA:563991
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Smith-Mccort Dysplasia 2
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... OMIM:615222
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... ORPHA:363417
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... ORPHA:3429
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... OMIM:606835
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles... ORPHA:750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... ORPHA:1307
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility ORPHA:238446
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone,... OMIM:618845
Hhhh Syndrome
Hemiatrophy OMIM:306960
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... OMIM:108120
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... OMIM:617974
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb OMIM:179280
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... OMIM:602849
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity OMIM:162370
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k... OMIM:216100
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... ORPHA:896
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... OMIM:148820
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,... ORPHA:566943
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... OMIM:601680
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Tetrasomy X
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... ORPHA:9
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... OMIM:201170
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Otoonychoperoneal Syndrome
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f... OMIM:259780
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... OMIM:132400
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Metap... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Short palm ORPHA:3238
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... ORPHA:2438
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Prenatal Bowing
Bowing of the long bones OMIM:264050
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop... OMIM:614900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... ORPHA:1788
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Decreased fertility, Hypogonadism, Abnormal metacarpal morphology, A... ORPHA:2233
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Limitation of joint mobility, Clinodactyly o... ORPHA:376
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... ORPHA:3121
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente... OMIM:177170
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, ... ORPHA:521308
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Narrow foo... OMIM:600383
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Winchester Syndrome
Arthropathy, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized... OMIM:277950
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Crani... OMIM:178110
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Abnormal hip bone morphology, Synost... ORPHA:1323
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu... OMIM:602111
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Osteoporoti... OMIM:609052
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Bra... OMIM:615982
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis OMIM:109050
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia OMIM:236110
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Hypoplastic iliac wing, 4-5 t... OMIM:260660
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... ORPHA:166024
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Sclerosteosis
Finger syndactyly, Increased bone mineral density, 2-3 finger syndactyly, Curved distal phalanges... ORPHA:3152
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare... OMIM:615349
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... OMIM:614326
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... OMIM:610797
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... OMIM:274000
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Rocker bottom foot, Micrognathia ORPHA:1270
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Lower limb asymmetry, Osteoarthritis, Generalized joint laxit... ORPHA:85198
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia ORPHA:1277
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Knee pain, Delayed epiphyseal ossification, Limited elbow... OMIM:600969
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... ORPHA:2631
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Laron Syndrome
Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed menarche OMIM:262500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... OMIM:272460
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... OMIM:251230
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Fin... OMIM:244200
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... ORPHA:429
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Renal h... OMIM:617661
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb OMIM:614257
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Micrognathia, Unilateral ren... OMIM:618142
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... ORPHA:90652
Crisponi/Cold-Induced Sweating Syndrome 2
Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly OMIM:610313
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pes planus, Calcaneovalgus deformity, Genu recurvatum OMIM:225320
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... ORPHA:1802
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... ORPHA:2249
Jeune Syndrome
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... ORPHA:474
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... ORPHA:1278
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... ORPHA:3210
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Joint stiffness, Abnormality of the elbow, Hip dislocation, Short middle phala... ORPHA:1005
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Acromicric Dysplasia
Short metacarpal, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, Short long bone... OMIM:102370
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs ORPHA:156728
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m... ORPHA:380
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Acrocephalopolydactyly
Genu recurvatum, Abnormal renal morphology, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Odontochondrodysplasia 1
Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widen... OMIM:184260
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... OMIM:613091
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Toe syndactyly, Pes cavus ORPHA:217377
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand ORPHA:177910
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, Hypogonadism, Talipes equinovarus,... ORPHA:3306
Tibial Hemimelia
Absent tibia OMIM:275220
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly,... OMIM:616809
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... ORPHA:85438
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... ORPHA:93952
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly o... OMIM:614851
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... ORPHA:3103
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M... OMIM:146510
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Radial deviation of the 4th finger, Bipartit... OMIM:608545
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... OMIM:616266
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor... OMIM:256050
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... OMIM:600002
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
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
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Three M Syndrome 3
Clinodactyly of the 5th finger, Prominent calcaneus, Hip dysplasia, Slender long bone OMIM:614205
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... OMIM:271640
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... ORPHA:1803
Shox-Related Short Stature
Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under... ORPHA:314795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... ORPHA:93360
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Hyp... OMIM:615993
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... ORPHA:1856
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Renal agenesis, Foot polydactyly ORPHA:2155
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... ORPHA:95699
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Radial deviation of finger OMIM:165660
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... ORPHA:65759
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ... OMIM:619951
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Micrognathia, Wris... OMIM:166300
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Abnormality of the t... ORPHA:99330
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... ORPHA:1765
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density ORPHA:1114
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the radiu... ORPHA:245
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Micromelia, Coxa vara ORPHA:168555
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Tombstone-shaped proximal phalanges, Elbow dislocation, Wi... OMIM:108721
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysp... OMIM:616362
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Micrognathia OMIM:616570
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov... OMIM:615065
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... ORPHA:3078
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ... OMIM:184252
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Arthrogryposis, Distal, Type 1C
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contracture, Elbow... OMIM:619110
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... OMIM:164745
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... OMIM:124480
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Grange Syndrome
Syndactyly, Increased susceptibility to fractures, Short palm ORPHA:79094
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... OMIM:140000
Monosomy 5P
Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m... ORPHA:281
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... OMIM:601356
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... ORPHA:2538
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Pontocerebellar Hypoplasia, Type 12
Talipes equinovarus, Overlapping fingers, Rocker bottom foot, Micrognathia OMIM:618266
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... OMIM:225500
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... ORPHA:63446
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
Burn-Mckeown Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Unilateral renal agenesis, Micrognathia OMIM:608572
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... ORPHA:93329
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Coxa valga, Accelerated skeletal maturation, Elbow disl... ORPHA:1425
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Delayed skeletal matur... ORPHA:1825
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... OMIM:180870
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence OMIM:179270
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Toe syndactyly ORPHA:168624
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Death in c... OMIM:618961
Three M Syndrome 2
Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly OMIM:612921
Weismann-Netter Syndrome
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Fetal Akinesia Deformation Sequence 3
Talipes, Overlapping fingers, Rocker bottom foot, Micrognathia OMIM:618389
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Flexion contracture OMIM:619091
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... OMIM:620076
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hip dysplasia, Prom... OMIM:618494
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... OMIM:101200
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly OMIM:113300
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Accelerated skeletal maturation, Joint st... ORPHA:3447
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormality of the urinary system, Abnormal limb bone morphology ORPHA:2204
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Braddock Syndrome
Preaxial hand polydactyly, Missing ribs, Unilateral renal agenesis, Micrognathia ORPHA:52047
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal s... OMIM:101800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... OMIM:190351
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, Clinodactyly of ... OMIM:619758
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han... ORPHA:1801
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Limb undergrow... ORPHA:319675
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camp... ORPHA:562528
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Large ilia... ORPHA:3168
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Broad hallux, Micrognathia, Small hand, Tibial bowing, Short foot, Broad... ORPHA:251028
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Abruzzo-Erickson Syndrome
Radioulnar synostosis OMIM:302905
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... ORPHA:88630
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... OMIM:210600
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Short 5th finger... OMIM:133705
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi... OMIM:613390
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Joubert Syndrome 33
Syndactyly OMIM:617767
Sclerosteosis 2
Cutaneous finger syndactyly, Short finger OMIM:614305
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Chronic kidney disease, Early ossificat... OMIM:208500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormality of the lower ... ORPHA:3035
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Brachydactyly, Acromesomelia ORPHA:40
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syn... OMIM:236500
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Overlapping toe, Abnormality... ORPHA:363444
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... ORPHA:973
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... OMIM:602200
Hypomelanosis Of Ito
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal... ORPHA:2774
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Decreased skull ossification OMIM:601163
Silver-Russell Syndrome
Sandal gap, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Abnormal appendicular skele... ORPHA:813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Spermatogenic Failure 17
Male infertility OMIM:617214
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs OMIM:114000
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... ORPHA:1515
Ectodermal Dysplasia With Mental Retardation And Syndactyly
3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Pentasomy X
Camptodactyly of finger, Small hand, Short foot, Radioulnar synostosis, Hip dysplasia, Clinodacty... ORPHA:11
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Polysyndactyly With Cardiac Malformation
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth OMIM:263630
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
X-Linked Intellectual Disability, Miles-Carpenter Type
Rocker bottom foot ORPHA:85283
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Odontochondrodysplasia
Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Square... ORPHA:166272
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... ORPHA:392
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopath... OMIM:300373
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... OMIM:611555
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Long fing... ORPHA:230851
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal maturation, Craniosy... OMIM:175700
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Wormian bones, Delayed cranial s... OMIM:616603
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Flexion contracture, Cutaneous finger syndactyly, Hip dis... OMIM:203550
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Craniosynostosis, Hip dislocation, Genu varum, Deep palmar crease, Clin... OMIM:619451
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Charcot-Marie-Tooth Disease, Type 4B3
Pes planus, Syndactyly, Distal lower limb muscle weakness OMIM:615284
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Abnormal foot morphology ORPHA:64754
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... ORPHA:1225
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... OMIM:609638
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Proximal tubul... OMIM:614576
Pseudoaminopterin Syndrome
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyl... ORPHA:221120
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Un... OMIM:154400
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... OMIM:620269
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Larsen Syndrome
Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dislocated wrist, Sh... OMIM:150250
Diastrophic Dysplasia
Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb... ORPHA:628
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Pes planus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus,... ORPHA:536532
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... ORPHA:3404
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... ORPHA:56304
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... OMIM:241800
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ... ORPHA:356961
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... OMIM:601559
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Radioulnar synostosis, Abnormal... ORPHA:1988
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... ORPHA:2167
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... OMIM:307800
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Auriculoosteodysplasia
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... ORPHA:114
Ellis Van Creveld Syndrome
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir... ORPHA:289
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... OMIM:607143
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Split hand, Abnormal pelvic girdle bone morphology, Arthro... OMIM:157900
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... OMIM:600325
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap... ORPHA:177
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Limitation of joint mobility, Triphal... ORPHA:2994
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... ORPHA:2557
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... ORPHA:239
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Tapered finger, ... OMIM:612350
Larsen Syndrome
Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b... ORPHA:503
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Rocker bottom foot, Micrognathia OMIM:618766
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... OMIM:617247
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Pterygium, Absent thumb, Absent radius, Short... OMIM:263650
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Short middle phalanx of the 4th finger, Limited prona... OMIM:616738
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... OMIM:615986
Bnar Syndrome
Renal agenesis, Abnormal fifth toe morphology ORPHA:217266
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... ORPHA:1597
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto... ORPHA:2804
Short Stature, Dauber-Argente Type
Long toe, Long fingers, Arachnodactyly, Decreased fibular diameter OMIM:619489
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper... ORPHA:2145
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Abnormal localizatio... ORPHA:921
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... ORPHA:1553
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Cryptorchidism, Abnormal... ORPHA:2673
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... ORPHA:570
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist... OMIM:601957
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... ORPHA:565
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... OMIM:617666
Coach Syndrome 1
Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullary renal cysts, Stag... OMIM:216360
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula... OMIM:258315
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joint contracture o... OMIM:612513
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Rocker bottom foot, Camptodactyly OMIM:618393
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Short distal ph... OMIM:180860
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly ORPHA:251046
Satoyoshi Syndrome
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... OMIM:600705
Desbuquois Dysplasia 2
Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,... OMIM:615777
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand... OMIM:218600
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Clinodac... ORPHA:1445
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... OMIM:613684
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease, Unilateral renal agenesis OMIM:617190
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Prominent calcaneus ORPHA:565624
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis, Limb und... OMIM:616541
Hyperparathyroidism, Transient Neonatal
Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, ... OMIM:618188
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Micrognathia, Missi... OMIM:200980
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Symphalangism of the 5th ... ORPHA:46627
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum ORPHA:1035
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... ORPHA:2911
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:2760
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Proxi... ORPHA:168549
Long Qt Syndrome 8
Syndactyly OMIM:618447
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan... OMIM:224400
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
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
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... ORPHA:1507
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnorm... ORPHA:1842
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... ORPHA:1427
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly OMIM:612463
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle, Delayed skeletal maturation, Coronal craniosynostosis, Dela... ORPHA:85199
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... OMIM:609128
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ... OMIM:602557
Greenberg Dysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly ORPHA:1426
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pes cavus, Syndactyly, Clinodactyly, Arachnodactyly OMIM:619092
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor... ORPHA:2635
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Coxa valga, Micrognathia, Advanced ossification of carpal bon... OMIM:618363
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Camptodactyly OMIM:616006
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly ORPHA:1514
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Rocker bottom foot, Equinovarus deformity, Micrognathia, Ankle flexion contractu... ORPHA:1143
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... ORPHA:15
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Congenital Varicella Syndrome
Micromelia ORPHA:291
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Abnor... ORPHA:3409
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Mitochondrial Trifunctional Protein Deficiency
Pes cavus, Decreased patellar reflex, Equinovarus deformity, Equinus calcaneus ORPHA:746
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... OMIM:616737
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... OMIM:613573
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... OMIM:114300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Polydactyly OMIM:602501
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Hip dysplasia, Areflexia of lo... OMIM:611890
C Syndrome
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyda... OMIM:211750
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Anauxetic Dysplasia 1
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... OMIM:607095
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... OMIM:157800
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Emanuel Syndrome
Congenital hip dislocation, Unilateral renal agenesis, Micrognathia, Cryptorchidism, Renal hypopl... ORPHA:96170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... ORPHA:171839
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha... OMIM:617926
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening ... OMIM:619135
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly ORPHA:261272
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Emanuel Syndrome
Recurrent urinary tract infections, Congenital hip dislocation, Unilateral renal agenesis, Microg... OMIM:609029
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... ORPHA:93317
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Zechi-Ceide Syndrome
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger OMIM:612916
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger ORPHA:521445
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos... OMIM:304150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Delayed skeletal maturation, Joint hyperflexib... ORPHA:2475
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Flexion contracture, Flared metaphysis... OMIM:215150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Renal insufficiency, Bowing of the legs, Delayed ep... OMIM:300554
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius ORPHA:246
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... OMIM:100800
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cr... ORPHA:1865
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot OMIM:619072
Hypertrichosis Cubiti
Abnormality of the elbow, Rhizomelia, Micromelia ORPHA:2220
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Cardioacrofacial Dysplasia 2
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... OMIM:619143
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye... ORPHA:93346
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Silver-Russell Syndrome 3
Syndactyly, Elbow contracture, Delayed skeletal maturation, Small hand, Antecubital pterygium, Cl... OMIM:616489
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Cryptorchidism, Elbow flexion contractur... OMIM:619194
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora... OMIM:602080
Kniest Dysplasia
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif... OMIM:156550
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac... OMIM:612813
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Cryptorchi... ORPHA:464306
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal joint morphology, A... ORPHA:3130
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia... ORPHA:96334
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly OMIM:272440
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip... OMIM:613320
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,... ORPHA:3015
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Talipes equinovalgus, Tibial bowing, Cong... ORPHA:453510
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... ORPHA:1512
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Aarskog-Scott Syndrome
Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly of finger, Single transverse palmar... ORPHA:915
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Hypophosphatasia, Infantile
Death in infancy, Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis,... OMIM:241500
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent radius, Absent thumb, Renal h... OMIM:614083
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay... OMIM:620099
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... OMIM:607323
Mohr Syndrome
Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys... OMIM:252100
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widening, Renal hypop... OMIM:614376
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly OMIM:601357
Rhyns Syndrome
Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo... OMIM:602152
Martsolf Syndrome 1
Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Metatarsus adductus, Slender ulna,... OMIM:212720
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Br... OMIM:618419
Greenberg Dysplasia
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... OMIM:215140
Bardet-Biedl Syndrome 3
Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a... OMIM:619218
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d... OMIM:602471
Achondrogenesis, Type Ib
Hypoplastic ilia, Stillbirth, Short ribs, Micromelia OMIM:600972
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... ORPHA:959
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Clubbing of... ORPHA:1318
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb, Flared metaphysis, Elb... OMIM:610758
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Talipes, Absent thumb, Aplasia/Hypoplasia of the distal phalan... ORPHA:1234
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co... OMIM:259600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flexion contracture, Cryptorchidism... ORPHA:464311
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Acrofrontofacionasal Dysostosis 2
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb OMIM:239710
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation, Flattened epiphysis,... OMIM:183900
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Hypospadias, Camptodactyly of ... ORPHA:468631
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus ORPHA:3224
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis, Clinodactyly of the 2nd finger, Co... ORPHA:221139
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Renal hypoplasia, Absent thumb OMIM:276950
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Rocker bottom foot OMIM:618506
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, ... OMIM:270400
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi... OMIM:224410
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... ORPHA:2616
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Pre... ORPHA:93352
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... OMIM:304120
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Single transverse palmar crease, C... OMIM:617425
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio... OMIM:600920
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Ectopic kidney ORPHA:2578
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Hypospadias, Wormian bones, Decreased fibular diameter, Micrognath... OMIM:616897
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Joint dislocation, Scapular winging, Single transverse palmar crease, Micromel... OMIM:618870
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Bilateral talipes equinovarus, 2-3 toe syndactyly, Pes valgus, Equinus calcaneus ORPHA:522077
Blepharocheilodontic Syndrome 1
Clinodactyly, Cutaneous syndactyly OMIM:119580
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... OMIM:201750
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... ORPHA:435938
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... OMIM:255800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... OMIM:602531
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cryptorchidism, ... ORPHA:73246
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Vesicoureteral reflux... ORPHA:199
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar... OMIM:616723
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... OMIM:601389
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Pallister-Hall Syndrome
Ectopic kidney, Micropenis, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Hypospadias,... ORPHA:672
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density ORPHA:935
Kid Syndrome
Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Palmoplantar kerato... ORPHA:477
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... OMIM:300963
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... ORPHA:1860
Qazi-Markouizos Syndrome
Cryptorchidism, Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... OMIM:166210
Neurooculorenal Syndrome
Hypoplasia of the bladder, Short hallux, Micrognathia, Unilateral renal agenesis, Cryptorchidism,... OMIM:620305
Achondrogenesis Type 2
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... ORPHA:93296
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyl... ORPHA:397590
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... OMIM:143095
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe... OMIM:609465
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... ORPHA:1112
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Ollier Disease
Abnormal metaphysis morphology, Micromelia ORPHA:296
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... ORPHA:93259
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... OMIM:600987
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysp... ORPHA:457284
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Acrofrontofacionasal Dysostosis
Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal pha... ORPHA:1784
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia ORPHA:171866
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Thanatophoric Dysplasia
Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnor... ORPHA:2655
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Pde4D Haploinsufficiency Syndrome
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Short ... ORPHA:439822
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:77258
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... OMIM:610442
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Delayed skeletal maturation, Limitation of joint mobility,... ORPHA:3255
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna... ORPHA:1328
Osteoglophonic Dysplasia
Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ... OMIM:166250
Hall-Riggs Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2107
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Delayed s... ORPHA:2332
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 finger cutaneous syndactyl... OMIM:181270
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Clubbing ... ORPHA:2437
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Marfan Syndrome
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re... OMIM:154700
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin... ORPHA:84
Kinsship Syndrome
Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Renal hyp... OMIM:619297
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Abnormal foot morpho... OMIM:263750
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Postaxial h... ORPHA:110
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol... ORPHA:221016
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
6Q25 Microdeletion Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Rocker bottom foot, Micrognathia ORPHA:251056
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Hypoplasia of penis, Micromelia ORPHA:2772
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis OMIM:613328
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ... OMIM:305400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Joint hyperflexibility, Hand polydactyly, Foot polydactyly ORPHA:60040
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Joint hyperflexibility ORPHA:1252
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact... OMIM:615547
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Delayed skelet... OMIM:614800
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney disease, V... ORPHA:261222
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short dist... OMIM:615789
7Q11.23 Microduplication Syndrome
Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Micrognathia, Craniosyno... ORPHA:96121
Maternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Camptodactyly of finger, Rocker bottom foot ORPHA:261519
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Hajdu-Cheney Syndrome
Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Osteolytic defects of the phal... OMIM:102500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Unilateral renal agen... OMIM:213980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... ORPHA:487796
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand... OMIM:268310
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
8Q24.3 Microdeletion Syndrome
Long toe, Microretrognathia, Congenital hip dislocation, Short femur, Single transverse palmar cr... ORPHA:508488
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... OMIM:227650
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Hypoplasia of penis, Camptoda... ORPHA:2008
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... ORPHA:2920
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Abnormal tibia morpho... ORPHA:93929
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ... ORPHA:3041
Achondrogenesis Type 1A
Short foot, Micrognathia, Micromelia, Short palm ORPHA:93299
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Abnormal foot morphology, Cutaneous finger syndactyly OMIM:210745
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm ORPHA:238750
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Rothmund-Thomson Syndrome Type 1
Osteopenia, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Delayed skeletal mat... ORPHA:221008
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Accelerated skeletal maturatio... ORPHA:1517
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Abnormal femur morphology, Upper lim... ORPHA:2063
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular... OMIM:618162
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Delayed skeletal maturation, Small hand, Short 4th metacarpal ORPHA:1787
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... OMIM:271510
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short long bone, Meso... OMIM:616229
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... OMIM:614701
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Micrognathia, Short toe, Cutaneous syndactyly, Ur... OMIM:617667
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Achondrogenesis Type 1B
Short foot, Talipes equinovarus, Micromelia, Micrognathia ORPHA:93298
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... OMIM:256520
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Limitation of joint mob... ORPHA:178303
Schisis Association
Renal agenesis, Micromelia ORPHA:63862
Joubert Syndrome 20
Renal cyst OMIM:614970
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Abnormality of the kidney, Micromelia, Brachydactyly ORPHA:93274
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Camptodactyly of finger, Unilateral renal agenesis, Micrognathia, Tapered finger,... ORPHA:261337
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly OMIM:600092
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla... OMIM:311900
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Tapere... ORPHA:268261
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Ring Chromosome 12 Syndrome
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb ORPHA:1439
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... ORPHA:93260
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Missing ribs, Unilateral renal agenesis, C... OMIM:151100
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... OMIM:618529
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... ORPHA:783
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Flexion contracture, Talipes calcaneovalgus, Knee flexion contractur... OMIM:265000
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... ORPHA:1001
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb ORPHA:139471
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Ectopic k... OMIM:122470
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx ORPHA:59315
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Renal hypoplasia, Short foot, Sh... OMIM:269860
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... OMIM:151050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femo... ORPHA:93315
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... OMIM:210710
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Fetal pyelectasis, Addu... ORPHA:50810
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Nephrolithiasis, Tib... OMIM:613848
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Glutamine Deficiency, Congenital
Neonatal death, Micromelia, Camptodactyly OMIM:610015
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Mosaic Trisomy 1
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter... ORPHA:1692
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Micrognathia OMIM:610756
Alkuraya-Kucinskas Syndrome
Overlapping toe, Abnormal foot morphology, Cutaneous syndactyly, Talipes equinovarus, Camptodacty... OMIM:617822
Axial Osteomalacia
Renal cyst OMIM:109130
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Metatarsus adductus, S... OMIM:123450
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Arachnodactyly, Rocker bottom foot OMIM:271225
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Abnormal foot morphology, Arthrogryposis-like hand anomaly, ... ORPHA:369891
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... ORPHA:508533
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Bilateral single transverse palmar creases, Delayed skeletal maturation, Small... ORPHA:1786
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Micrognathia, Elbow flexion contracture, Knee flexion contracture... OMIM:214150
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Missing ribs, Micrognathia, Hydronephrosis OMIM:220210
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... OMIM:617809
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Delayed skeletal maturation, Sh... OMIM:170390
X Small Rings
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... ORPHA:96201
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Adducted thumb ORPHA:89844
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... OMIM:107480
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Curry-Jones Syndrome
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... OMIM:601707
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma... ORPHA:1798
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... ORPHA:158687
Humeroradial Synostosis
Humeroradial synostosis OMIM:236400
Becker Nevus Syndrome
Upper limb asymmetry, Abnormal tibia morphology, Micromelia ORPHA:64755
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Bilate... ORPHA:2754
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Calcaneovalgus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Calcaneovalgus ... ORPHA:363958
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Cryptorchidism, Metopic synostosis, Unilateral renal agenesis OMIM:620024
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... OMIM:231070
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... OMIM:616331
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Postaxial hand polydactyly,... OMIM:619879
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Broad palm, Joint hypermobility OMIM:618505
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Achondrogenesis
Micromelia, Micrognathia ORPHA:932
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... ORPHA:974
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Rocker bottom foot, Camptodactyly OMIM:604273
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... ORPHA:2021
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... OMIM:308205
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m... ORPHA:50945
Autosomal Dominant Cutis Laxa
Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Pyelonephritis, Bladder diverticulum... ORPHA:90348
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Abnormal medullary pyramid morphology, Single transverse palmar crease ORPHA:79243
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno... ORPHA:89936
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... OMIM:236700
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... ORPHA:217346
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Urinary incontinence, Irregular menstruation, Tibial bowing, Femoral bowing, Neonatal... OMIM:616482
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Occipital Horn Syndrome
Pes planus, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa va... ORPHA:198
Bohring-Opitz Syndrome
Joint dislocation, Syndactyly, Prominent metopic ridge, Overlapping toe, Ulnar deviation of the w... OMIM:605039
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Renal insufficiency, Radial club hand ORPHA:2165
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Developmental And Epileptic Encephalopathy 29
Hip dislocation, Rocker bottom foot OMIM:616339
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614866
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Renal agenesis, Primary amenorrhea, Brachydactyly ORPHA:247768
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia,... ORPHA:8
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... ORPHA:794
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Cryptorchidism, Genu valgum, Deep palmar crease, Palmoplantar kerato... ORPHA:1340
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia ORPHA:1908
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, C... ORPHA:568
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly, Osteoporosis ORPHA:2169
Dpm1-Cdg
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux ORPHA:79322
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, A... ORPHA:2273
Macrodactyly
Macrodactyly OMIM:155500
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdl... OMIM:269500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Overlapping fingers OMIM:618316
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb OMIM:314390
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:600901
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Achilles te... OMIM:301041
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Popliteal pterygium ORPHA:1300
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot OMIM:616038
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Deep plantar creases, Deep palmar cr... ORPHA:254346
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... DECIPHER:81
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Proteinuria, Bowing of the legs, Hypoplastic ilia, Chronic kidney disease,... ORPHA:1855
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Congenital hip dislocation OMIM:104350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... OMIM:134780
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Craniosynostosis, Small hand, Horseshoe kidney, Short foot OMIM:617140
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Short phalanx of finger OMIM:208060
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Micrognathia, Sh... ORPHA:391641
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fanconi Anemia, Complementation Group B
Death in infancy, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Bilateral radial ... OMIM:300514
Sandestig-Stefanova Syndrome
Clinodactyly, Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases OMIM:618804
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Short palm, Tracheomalacia, Clinodactyly, Brachydactyly OMIM:217980
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger syndactyly, Renal... OMIM:603467
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplasia, Short foot, Sh... ORPHA:264200
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Hamamy Syndrome
Long toe, Syndactyly, Osteopenia, Down-sloping shoulders, Recurrent fractures, Tapered finger, Cr... OMIM:611174
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly OMIM:616430
Osteogenesis Imperfecta, Type Vii
Death in infancy, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Fem... OMIM:610682
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
Melnick-Needles Syndrome
Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, ... OMIM:309350
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f... ORPHA:488642
Constricting Bands, Congenital
Syndactyly, Hand polydactyly, Talipes equinovarus OMIM:217100
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Abnormal pelvic girdle bone morphology, Urinary incontinence, Carpal bone hypopl... OMIM:601162
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met... OMIM:272950
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Cutaneous finger syndactyly, Rocker bottom foot, Micrognathia OMIM:606851
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... ORPHA:99776
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... OMIM:227330
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T... ORPHA:2215
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Rocker bottom foot, Shoulder flexion contracture,... OMIM:193700
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly OMIM:614230
Vater/Vacterl Association
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... OMIM:192350
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Oculodentodigital Dysplasia, Autosomal Recessive
Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger synd... OMIM:257850
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... ORPHA:175
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... ORPHA:261529
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... ORPHA:193
Autosomal Recessive Hypophosphatemic Rickets
Increased bone mineral density, Osteomalacia, Rickets of the lower limbs, Lower limb asymmetry, C... ORPHA:289176
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
3Mc Syndrome 3
Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar synostosis, Clinod... OMIM:248340
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias ORPHA:139466
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... OMIM:601812
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Delayed skeletal maturation, Cutan... OMIM:148050
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Sh... ORPHA:2909
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Death in childhood, Hypoplasia of the odontoid process, Split... OMIM:252500
Kagami-Ogata Syndrome
Limb undergrowth, Long fingers, Micrognathia, Coxa valga OMIM:608149
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Short toe, Abnormal renal morphology, Delayed ossification of carpal bones, Short... OMIM:239300
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Micrognathia, Small hand, Fibular hypoplasia, Horseshoe kidney, Hypoplasia of proxim... ORPHA:444077
Luscan-Lumish Syndrome
Irregular menstruation, Advanced ossification of carpal bones OMIM:616831
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Pycnodysostosis
Persistent open anterior fontanelle, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Acromelia,... ORPHA:763
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Hyperextensibility of the finger joints, Internally rotated shoulders, Single tr... OMIM:619503
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Micromelia, Micrognathia ORPHA:2189
3C Syndrome
Finger syndactyly, Death in infancy, Hypoplasia of penis, Hypospadias, Micrognathia, Missing ribs... ORPHA:7
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pes planus, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous syndactyly, C... OMIM:620029
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Recurrent mandibular subluxa... OMIM:225410
Opitz-Kaveggia Syndrome
Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Delayed c... OMIM:305450
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... ORPHA:731
Prader-Willi Syndrome
Syndactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Acromicria, Small hand, Narrow palm, P... OMIM:176270
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... ORPHA:2636
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Micrognathia, Cryptorchidism, Micropenis, Mesomelia, Camptodactyly, Vesicoureteral re... OMIM:616894
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pes planus, Micrognathia, Rocker bottom foot, Tapered finger OMIM:620070
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S... OMIM:268300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5t... OMIM:619269
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... ORPHA:2092
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Delayed closure of the anterior fontan... ORPHA:96182
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly OMIM:615877
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Bardet-Biedl Syndrome 1
Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:209900
Chromosome 13Q33-Q34 Deletion Syndrome
Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Hypospadias, Tapered f... OMIM:619148
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hypoplasia of the radius, Ve... ORPHA:140952
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormal metacarpal morphology ORPHA:284160
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... ORPHA:2886
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... ORPHA:464738
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage ORPHA:314679
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Adducted thumb OMIM:618622
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplastic iliac wing,... ORPHA:2637
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Micrognathia,... ORPHA:261318
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short... ORPHA:1708
Triploidy
Finger syndactyly, Decreased skull ossification ORPHA:3376
Raine Syndrome
Death in infancy, Bowing of the long bones, Hydroureter, Micromelia, Micrognathia, Hydronephrosis... OMIM:259775
Pentalogy Of Cantrell
Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the rad... ORPHA:1335
Gm1 Gangliosidosis
Camptodactyly of finger, Abnormal diaphysis morphology, Abnormal epiphysis morphology, Limb under... ORPHA:354
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Pes planus, Limited elbow extension and supination, Single transver... ORPHA:93932
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the ureter, Palmoplantar hyperker... ORPHA:3253
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Limb undergrowth, Nephrocalcinosis, Hip dislocation OMIM:618005
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Neurogenic bladder, Prominent metopic ridge, Cryptorchidism, 2-3 toe... ORPHA:488632
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli... OMIM:305600
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Talipes equinovarus, Neonatal death, Death in childhood, Limb undergrowth OMIM:619124
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:227645
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Absen... OMIM:227646
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder... ORPHA:1521
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter ORPHA:2311
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Abnormal metaph... ORPHA:800
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
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Absent thumb, Sagittal cran... ORPHA:500150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Coxa valga, Talipes equinovalgus, Postaxial hand polydactyly, Postaxial foot ... OMIM:301056
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Gm1-Gangliosidosis, Type Ii
Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga OMIM:230600
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Robinow Syndrome, Autosomal Dominant 1
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Renal duplication, ... OMIM:180700
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
C Syndrome
Joint dislocation, Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Mi... ORPHA:1308
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia ORPHA:48
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Microg... ORPHA:2753
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Rocker bottom foot, Micrognathia, Elbow flexion contracture, Hip dislocation, H... OMIM:618947
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5th finger OMIM:612582
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... ORPHA:567
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb, Delayed cranial ... ORPHA:2211
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Bifid distal p... ORPHA:97360
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Abnormality of the lower limb, Reduced bone mineral density, A... ORPHA:1556
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Clubbing, Contractures of the large joints, J... ORPHA:96123
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Urethral stricture, Hypospadias, Sagittal craniosynostosis, Bowing of the ... OMIM:617063
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Short foot, Micropenis, Thickened cortex of long bones, Broad femoral neck, Distal sh... ORPHA:488434
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Infantile Systemic Hyalinosis
Brachydactyly, Camptodactyly of finger, Micromelia, Short palm ORPHA:2176
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Short foot, Joint hyperflexibility, Clinodactyly of th... ORPHA:1974
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Abnormal foot morphology, Limitati... ORPHA:2990
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Male infertility, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral... ORPHA:1772
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... ORPHA:261537
Stüve-Wiedemann Syndrome
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... ORPHA:3206
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Finger syndactyly, Multicystic ki... ORPHA:818
Lumbar Syndrome
Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication ORPHA:83628
Slc39A8-Cdg
Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of to... ORPHA:468699
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Micrognathia, Achilles tendon contracture, Talipes equinovarus, Congenital fi... ORPHA:363528
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi... ORPHA:373
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... ORPHA:85450
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Single transverse palmar cr... ORPHA:521426
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyly, Hypoplasia of the radi... ORPHA:233
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme... ORPHA:1896
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Desmosterolosis
Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Metatarsus adductus, Micrognathia ORPHA:35107
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pes planus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture... OMIM:602782
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pes planus, Taper... ORPHA:2152
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Hypospadias, Camptodactyly of ... ORPHA:3107
Mirage Syndrome
Overlapping fingers, Rocker bottom foot, Radial club hand, Talipes equinovarus OMIM:617053
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... ORPHA:261552
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull base, Short palm, 3... OMIM:619727
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Abnormal femoral tors... ORPHA:500095
Monosomy 13Q14
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly ORPHA:1587
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Urethrovaginal fistula, Preaxial hand polydactyly,... ORPHA:93271
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Bloom Syndrome
Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Clinod... OMIM:210900
Congenital Fibrosis Of Extraocular Muscles
Hand oligodactyly ORPHA:45358
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... OMIM:269150
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Micrognathia, Hydronephrosis, Hydrocele testis, P... OMIM:188400
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Joint hyperflexibility, ... ORPHA:2907
Aspartylglucosaminuria
Pes planus, Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Arthritis ORPHA:93
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, ... OMIM:200990
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... OMIM:617527
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly OMIM:601353
Chromosome 18Q Deletion Syndrome
Pes planus, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Tal... OMIM:601808
Pyknoachondrogenesis
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas... ORPHA:3003
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Micrognathia, M... OMIM:214100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypoplastic sacrum, Hydroureter, R... OMIM:604292
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... OMIM:259770
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypt... OMIM:613457
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Multicystic kidney dys... ORPHA:2308
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Palmoplantar keratoderma, Short ... ORPHA:2908
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly OMIM:620025
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Hartsfield Syndrome
Syndactyly, Ectrodactyly, Craniosynostosis OMIM:615465
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Cranioectodermal Dysplasia 2
Syndactyly, Renal insufficiency, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polyd... OMIM:613610
Cystinosis, Nephropathic
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Metaphyseal wide... OMIM:219800
Arterial Tortuosity Syndrome
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, 2-3 toe syndac... ORPHA:163979
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Renal agenesis, Absent radius, Short thumb, Partial duplica... OMIM:149730
Chromosome 16P13.3 Duplication Syndrome
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micrognathia, Short ... OMIM:613458
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Flexion contractur... OMIM:180849
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Neurocardiofaciodigital Syndrome
Syndactyly, Polydactyly OMIM:619869
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Congenital hip dislocation... OMIM:258040
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Osteolysis, De... ORPHA:464
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... OMIM:312870
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma ORPHA:1071
Osteogenesis Imperfecta
Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, F... ORPHA:666
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Dubowitz Syndrome
Syndactyly, Pes planus, Single transverse palmar crease, Delayed skeletal maturation, Clinodactyl... OMIM:223370
Leukocyte Adhesion Deficiency Type Ii
Limb undergrowth, Recurrent urinary tract infections, Overlapping toe, Broad palm ORPHA:99843
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,... OMIM:610168
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Diphallia
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... ORPHA:227
Degcags Syndrome
Syndactyly, Recurrent urinary tract infections, Toe syndactyly, Hypospadias, Bilateral renal dysp... OMIM:619488
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Pes planus, Synostosis involving the 1st metacarpal, Clinodactyly of... ORPHA:466791
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Cystic Echinococcosis
Ovarian cyst, Hepatic cysts, Renal cyst, Membranous nephropathy ORPHA:400
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... OMIM:261540
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Vesicoureteral reflux, Renal cyst, Hip dys... OMIM:616975
Werner Syndrome
Small hand, Rocker bottom foot ORPHA:902
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Aymé-Gripp Syndrome
Rocker bottom foot, Tapered finger, Radioulnar synostosis, Reduced arm span, Camptodactyly, Clino... ORPHA:1272
Charge Syndrome
Hypoplasia of the ulna, Renal agenesis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, ... OMIM:214800
Joubert Syndrome 14
Renal cyst OMIM:614424
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis OMIM:257300
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ectopic kidney, Cryptorchidism, Short toe, Clinodactyly of the 5th finger, Bra... ORPHA:1519
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... OMIM:607932
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Chordee, Micropenis, Urogeni... OMIM:618820
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... OMIM:208150
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Neu-Laxova Syndrome
Micromelia, Micrognathia, Large hands, Hypogonadism, Pterygium ORPHA:2671
Monosomy 9P
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda... ORPHA:261112
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria ORPHA:2239
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Renal duplication... ORPHA:709
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnormality of the ki... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnormality of the ki... ORPHA:353277
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Iniencephaly
Rhizomelia, Rocker bottom foot, Absent vertebra, Talipes equinovarus, Mandibular aplasia ORPHA:63259
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Deep palmar crease, Uraciluria, Micromelia ORPHA:1675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal foot morphology ORPHA:2136
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa... OMIM:150230
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
Coffin-Siris Syndrome 12
Joint laxity, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial sutures, Radiouln... OMIM:619325
Noonan Syndrome 1
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Synovitis, Hypogonadism, Radial devi... OMIM:163950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Fryns Syndrome
Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo... OMIM:229850
Doors Syndrome
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the ph... ORPHA:79500
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Death in infancy, Multicystic kidney dysp... ORPHA:2052
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Fontaine Progeroid Syndrome
Syndactyly, Death in infancy, Craniosynostosis, Micrognathia, Cryptorchidism, Coronal craniosynos... OMIM:612289
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Cystic Fibrosis
Male infertility, Clubbing of fingers, Hypercalciuria OMIM:219700
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... ORPHA:251510
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Lower limb a... ORPHA:744
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Microphthalmia, Syndromic 1
Syndactyly, Hydroureter, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Re... OMIM:309800
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly OMIM:620330
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Male infertility OMIM:244400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Syndactyly, Renal insufficiency, Postaxial polydactyly, Broad first metatarsal, Dilat... OMIM:619534
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Hyperphosphaturia, Stippled calcification of the shoulder, Abnormal calc... ORPHA:51608
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Restrictive Dermopathy 1
Rocker bottom foot, Micrognathia, Overtubulated long bones, Osteolytic defects of the distal phal... OMIM:275210
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Atypical Werner Syndrome
Pes planus, Rocker bottom foot, Micrognathia, Osteolytic defects of the phalanges of the hand, Fi... ORPHA:79474
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... ORPHA:892
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... ORPHA:904
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Viss Syndrome
Long toe, Microretrognathia, Pes planus, Arachnodactyly, Rocker bottom foot, Micrognathia, Hip di... OMIM:619472
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Pmm2-Cdg
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fmn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fmn1.

No publications found that use IMPC mice or data for Fmn1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Fmn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fmn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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