banner
Genes Phenotypes Help, News, Blog

Gene: Hivep3 MGI:106589

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
human immunodeficiency virus type I enhancer binding protein 3
Synonyms:
Schnurri-3,  Shn3,  2900056N03Rik,  E030045D18Rik,  Krc

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 Hivep3 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 Hivep3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Broad hallux, Abnormal thumb morphology, Hydronephrosis, Bifid... ORPHA:2669
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Gonadoblastoma
Gonadoblastoma OMIM:424500
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Neoplasm ORPHA:99926
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Teratoma, Pineal
Teratoma, Polyuria OMIM:273120
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Syndactyly ORPHA:294975
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Deviation of finger ORPHA:1450
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Osteoporosis
Osteoporosis OMIM:166710
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Hepatoblastoma, Splenopancreatic fusio... OMIM:269150
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,... OMIM:619217
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Ren... OMIM:615993
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Po... OMIM:615996
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Orofaciodigital Syndrome Xv
Hydronephrosis, Duplication of phalanx of hallux, Broad hallux, Postaxial hand polydactyly OMIM:617127
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosis, Hepatobla... ORPHA:798
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Abnormality of the urinary system OMIM:213010
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Hydronephrosis, Hypoplasia of the... OMIM:602418
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Image Syndrome
Hydronephrosis, Hypospadias, Micromelia, Metaphyseal dysplasia ORPHA:85173
8P23.1 Duplication Syndrome
Hydronephrosis, Toe syndactyly, Exostoses ORPHA:251076
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Holzgreve Syndrome
Renal hypoplasia, Hand polydactyly, Renal agenesis OMIM:236110
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Hypoplasia... OMIM:613390
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Genu valg... ORPHA:65759
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Recurrent fractures, Thin bony cortex, Multiple prenatal fractures OMIM:619795
Mesomelia-Synostoses Syndrome
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abn... ORPHA:2496
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Sacrococcygeal teratoma ORPHA:1552
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hip dysplasia ORPHA:195
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the... OMIM:617926
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Brachydactyly, Short long bone, Polydactyly OMIM:613819
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
6P22 Microdeletion Syndrome
Hydronephrosis, Finger syndactyly, Clinodactyly ORPHA:251046
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Polydactyly OMIM:614465
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Renal dysplasia OMIM:615985
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Proximal placement of thum... OMIM:304050
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Renal agenesis, Postaxial hand polydactyly ORPHA:2155
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Polydacty... OMIM:615994
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Talar aplasia, Recurrent urinary tract infections, Hydronephrosis, Neurogenic bla... OMIM:619218
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:873
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Nephroblastoma, Polydactyly, Leukemia, Syndactyly OMIM:602501
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Joubert Syndrome 17
Postaxial polydactyly, Abnormal renal morphology, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Orofaciodigital Syndrome Viii
Hamartoma, Syndactyly, Short tibia, Polydactyly OMIM:300484
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypoplastic ischia, Hypospadias, Polydactyly OMIM:616910
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Short distal phalanx of the 5th finger, Short metacarpa... OMIM:620662
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Duplication Of The Pituitary Gland
Teratoma ORPHA:314621
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ectopic kidney, Renal dys... OMIM:146510
X-Linked Intellectual Disability, Schimke Type
Elbow flexion contracture, Hydronephrosis, Vesicoureteral reflux, Hip contracture ORPHA:85285
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Complete d... OMIM:201000
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon... OMIM:114150
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera... ORPHA:2437
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polyda... OMIM:614815
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Short long bone OMIM:615633
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino... OMIM:620663
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Absent thumb, Rena... OMIM:607323
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Multicystic kidney dysplasia, Postaxial foot polydactyly, Polydactyly OMIM:607361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Acetabular s... OMIM:613091
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Congenital hip dislocation, Dislocation of the femoral head, Hyperextensibility o... OMIM:619797
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Hypospadias, Renal hypoplasia, Micromelia, ... OMIM:614091
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia... ORPHA:2473
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Postaxial polydacty... OMIM:258860
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Crossed fu... OMIM:618142
Laurence-Moon Syndrome
Micropenis, Abnormality of the hand, Polydactyly OMIM:245800
Joubert Syndrome 7
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Postaxial polydactyly, Renal cyst,... OMIM:611560
Nevus Comedonicus Syndrome
Toe syndactyly, Hamartoma, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly,... OMIM:169400
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly ORPHA:141333
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia of the femoral head, Tu... OMIM:616629
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Ulnar deviation of finger, Broad femoral ... OMIM:611209
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Enlarged k... OMIM:613885
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Micropenis, Ulnar deviation of the... OMIM:614175
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Hydronephrosis, Talipes equinovarus, Congenital posterio... OMIM:100100
Kury-Isidor Syndrome
Finger syndactyly, Hydronephrosis, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bott... OMIM:619762
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Mesomelic/rhizomelic limb shor... ORPHA:2839
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Horseshoe kidney, Vesicoureteral refl... ORPHA:93260
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transver... OMIM:618161
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Slender long bone, Brachydactyly OMIM:618265
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Leukopenia, Overlapping fingers, Vesicoureteral reflux, Hydronephrosi... OMIM:301056
Joubert Syndrome 15
Micropenis, Nephronophthisis, Preaxial polydactyly OMIM:614464
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Abnormal metaphysis morphology, Vesicoureteral r... ORPHA:2484
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Rhizomelia, Hypoplastic iliac wing, Fibular ... OMIM:260660
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Hydroureter, Interphalangeal joint contracture of finger, Partial fu... OMIM:305620
ERI1-related disease
Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Vesic... OMIM:608739
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem... OMIM:314390
Feingold Syndrome Type 1
Nephritis, Toe syndactyly, Short thumb, Renal dysplasia, Short middle phalanx of finger, Horsesho... ORPHA:391641
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Lymphoma, Abnormality of the ureter, Vesicouret... ORPHA:1225
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Wolfram Syndrome 1
Hydroureter, Limited mobility of proximal interphalangeal joint, Sideroblastic anemia, Hydronephr... OMIM:222300
Tetraploidy
Radial club hand, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Capillary hemangioma, Abnormality of the ur... ORPHA:3378
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Ulnar bowing, Single tra... OMIM:617866
Suleiman-El-Hattab Syndrome
Clinodactyly, Single transverse palmar crease, Polydactyly, Hydronephrosis, Brachydactyly OMIM:618950
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Recombinant Chromosome 8 Syndrome
Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the hand, Hydronephrosis OMIM:179613
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping toe, Overlappi... OMIM:618494
Tetrasomy 15Q26
Arachnodactyly, Camptodactyly, Hydronephrosis, Horseshoe kidney OMIM:614846
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Al-Gazali Syndrome
Broad distal phalanx of finger, Hydronephrosis, Wrist flexion contracture, Bowed humerus, Bilater... OMIM:609465
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Tarp Syndrome
Clinodactyly, Horseshoe kidney, Single transverse palmar crease, Postaxial polydactyly, Talipes e... OMIM:311900
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Hydronephrosis, Limb undergrowth, Adducted thumb, ... OMIM:616897
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:264700
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Hypoplasia of the p... OMIM:619648
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u... ORPHA:887
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:277440
Retinitis Pigmentosa 51
Abnormality of the kidney, Polydactyly OMIM:613464
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Hip dysplasia, Polydactyly ORPHA:531151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Bilateral single transverse palmar creases, Hydronephrosis, Brachydactyl... ORPHA:2083
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Joubert Syndrome 37
Postaxial polydactyly, Micropenis, Hydronephrosis OMIM:619185
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, P... ORPHA:137605
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Arachnodactyly, Hydronephrosis,... ORPHA:314588
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Ulnar deviation of the ... OMIM:600383
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Renal cyst, Postaxial hand polydactyly OMIM:603194
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... OMIM:259700
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Renal agenes... OMIM:277170
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Joubert Syndrome 23
Polydactyly OMIM:616490
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Tapered finger ORPHA:1920
15q26 overgrowth syndrome
Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... DECIPHER:81
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Hydronephrosis, Postaxial ha... OMIM:236700
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Hypospadias, Sandal gap OMIM:615761
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly,... ORPHA:261344
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Unilateral renal agenesis, Finger syndactyly, A... OMIM:308050
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormality of the spl... ORPHA:1834
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac... ORPHA:2092
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger OMIM:620141
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Hydronephrosi... ORPHA:250989
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hor... ORPHA:314585
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Polydactyly, Clinodactyly of the 5th finger, Hyposp... ORPHA:397590
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... OMIM:268310
Microphthalmia, Lenz Type
Hydroureter, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Renal hypo... ORPHA:568
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Postaxial polydactyly, Renal corticomedullary cysts,... OMIM:219730
Nijmegen Breakage Syndrome
Glioma, Sandal gap, Lymphoma, Recurrent urinary tract infections, Rhabdomyosarcoma, Autoimmune he... OMIM:251260
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Retinitis Pigmentosa 89
Postaxial polydactyly, Hepatosplenomegaly OMIM:618955
3C Syndrome
Finger syndactyly, Abnormal hip bone morphology, Hydronephrosis, Facial hemangioma, Hand polydact... ORPHA:7
Trisomy 17P
Hydronephrosis, Urethral stenosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Urethral ... ORPHA:261290
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip ... OMIM:616362
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Hydroureter, Hypoplasia of the bladder, 3-4 toe syndactyly, Crossed fused renal e... OMIM:300707
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias, Syndactyly OMIM:220210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elbow flexion contracture, Renal insufficiency, Enlarged kidney, Hydronephrosis, Lon... OMIM:608836
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, L... OMIM:612541
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas... ORPHA:289157
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Hallux valgus OMIM:620511
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered fi... OMIM:616737
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Sandal gap, Lymphoma, Neoplasm, Hydronephrosis, Aplasia/... ORPHA:235
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Over... ORPHA:464738
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Renal insufficiency, Nephroblastoma, Gonadoblastoma, Hypospadias OMIM:194072
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor... ORPHA:2750
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Patellar aplasia, Hip contracture, Hydronephrosis... ORPHA:85201
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Teebi-Shaltout Syndrome
Caudal appendage, Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Hydroneph... OMIM:272950
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Hyperechogenic kidneys, Fibular bowin... OMIM:612651
Tarp Syndrome
Clinodactyly, Finger syndactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Hor... ORPHA:2886
Mosaic Trisomy 9
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Renal dysplasia, Hor... ORPHA:99776
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Hydronephrosis, Hemangioma ORPHA:1297
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormality of the ureter,... ORPHA:261318
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Lymphopenia, Vesicoureteral reflux, Postaxial polydactyly, Hydron... OMIM:618460
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Talipes equinovarus... ORPHA:373
Trisomy 8P
Short fifth metatarsal, Nephrocalcinosis, Short 1st metacarpal, Clinodactyly of the 2nd finger, C... ORPHA:264450
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Congenital Myopathy 17
Hand clenching, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Ureteropelv... OMIM:618975
Currarino Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Perianal abscess, Ne... OMIM:176450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Capillary hemangioma, Bulbous tips of toes, 2-3 toe syndactyl... ORPHA:163979
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Horseshoe kidney, Hypoplastic iliac wing, Cutaneous fi... OMIM:235510
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Arachnodactyly, Hydronephrosis, Micropenis, Metatarsus adductus, C... OMIM:612513
Apert Syndrome
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... OMIM:101200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, HbH hemoglobin, Radial deviation of finger, Renal agenesis, Hydronephrosis, Talipes... OMIM:301040
Campomelic Dysplasia
Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of th... ORPHA:140
Orofaciodigital Syndrome Type 6
Renal agenesis, Finger clinodactyly, Preaxial polydactyly, Hamartoma of tongue, Renal hypoplasia/... ORPHA:2754
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Hypospadias ORPHA:544254
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Eec Syndrome
Hypospadias, Toe syndactyly, Finger syndactyly, Ectrodactyly, Lymphoma, Vesicoureteral reflux, Re... ORPHA:1896
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
Basal Cell Nevus Syndrome 1
Palmar pits, Basal cell carcinoma, Short distal phalanx of the thumb, Hamartomatous stomach polyp... OMIM:109400
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Arthritis, Osteop... ORPHA:2796
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Ureteral triplication, Hydronephrosis, Cubitus valgus, Syndactyly OMIM:104350
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Renal dysplasia, Postaxial polydactyly, Hydronephrosis, Hip dysplasia, Short foot, Hi... OMIM:300968
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Vater/Vacterl Association
Hypospadias, Short thumb, Renal agenesis, Preaxial polydactyly, Vesicoureteral reflux, Ureteropel... OMIM:192350
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Abnormal renal morphology, Overlapping toe, Tapered finger OMIM:613792
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Glandular hypospadias, Hydronephrosis, Talipes equinovarus, Brachydact... ORPHA:1358
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Ureteral stenosis, Cone-... OMIM:309350
Autosomal Recessive Spastic Paraplegia Type 20
Clinodactyly, Abnormal hand morphology, Genu valgum, Abnormal thumb morphology, Hydronephrosis, A... ORPHA:101000
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Abnormal renal morphology, Short phalanx of finger, Complete dupl... ORPHA:59315
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology ORPHA:3079
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Single transverse palmar crease, Hydronephrosis, Wrist flexion contracture, Long... ORPHA:254528
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Pancytopenia, Splenomega... OMIM:614576
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra... ORPHA:2909
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Clubbing of toes, Aplastic clavi... ORPHA:3474
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Duplicated collecting system, Multicystic kidney dysplasia, Hydrou... ORPHA:79404
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Arachnodactyly, Hydronephrosis, Ureteral duplication, H... ORPHA:96169
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... ORPHA:435638
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpa... ORPHA:1507
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... ORPHA:49041
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Bilateral si... ORPHA:261349
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Hydronephrosis, Astrocytoma, Multiple central nervous system lipomas, Lipoma... OMIM:613001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Noonan Syndrome 4
Hydronephrosis, Cubitus valgus, Ureteral duplication, Thrombocytopenia OMIM:610733
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia ORPHA:449400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Short toe, Hydronephrosis, Clinodactyly of the 5th finger, Short phalanx of... OMIM:619269
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Epiphyseal stippling, Singl... OMIM:214100
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large hands, Aplasia/... ORPHA:2636
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hepatosplenomegaly, Hydronephrosis, Drumstick terminal phalanges ORPHA:541423
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Talipes equinovarus, Bra... ORPHA:847
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Toe syndactyly, Polydactyly, Arachnodactyly, Hydronephrosis, Renal cys... ORPHA:464306
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly OMIM:616562
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Hydronephrosis, Talipes equinovarus, Neonatal epiphyseal stippling, Hip dis... ORPHA:35173
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Webb-Dattani Syndrome
Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hip dislocation OMIM:615926
Mosaic Trisomy 8
Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Hydronephrosis, Deep palmar cre... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Facial capillary hem... ORPHA:818
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Nephronophthisis, Sandal gap, Stage 5 chronic kidney disease, Pos... OMIM:614099
Occipital Horn Syndrome
Bladder carcinoma, Ureteral obstruction, Genu valgum, Limited elbow extension, Short humerus, Sho... OMIM:304150
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Small hypothenar eminence, Hydronephrosis, Long fingers, Micro... ORPHA:96092
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Thin bony cortex OMIM:230600
Craniofacioskeletal Syndrome
Small hand, Hydronephrosis, Brachydactyly, Narrow iliac wing, Clinodactyly of the 5th finger, Sho... OMIM:300712
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
Congenital Disorder Of Glycosylation, Type Iiaa
Bilateral talipes equinovarus, Unilateral renal agenesis, Hydronephrosis, Short long bone OMIM:620454
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Osteogenesis Imperfecta, Type X
Osteopenia, Joint hypermobility, Generalized joint hypermobility, Decreased calvarial ossificatio... OMIM:613848
Koolen-De Vries Syndrome
Slender finger, Prominent fingertip pads, Recurrent urinary tract infections, Vesicoureteral refl... OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Hydronephrosis, Hypospadias, Single transverse palmar crease OMIM:616449
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hydronephrosis, Abnormal renal morphology, Postaxial hand polyd... ORPHA:1655
Sotos Syndrome
Small cell lung carcinoma, Hip contracture, Talipes equinovarus, Large hands, Abnormality of the ... ORPHA:821
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Renal hypoplasia, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypoplastic... OMIM:616300
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Functional abnormality of the bladder, Horseshoe kidney, Nephrolithiasis, Hydrone... ORPHA:2953
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Facial capillary hemangioma, Duplicated collecting s... OMIM:270400
Distal Deletion 12Q
Pituitary adenoma, Broad hallux, Elbow flexion contracture, Overlapping toe, Vesicoureteral reflu... ORPHA:96149
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis... ORPHA:221016
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Talipes equinovarus, Renal cyst, Micr... ORPHA:261494
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Brachydactyly ORPHA:457193
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Splenomegaly, Postaxial hand polydactyly OMIM:235255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Short distal phalanx of finger, Vesicoureteral reflux, Hydronephrosis,... OMIM:614080
Gabriele-De Vries Syndrome
Sandal gap, Ureteropelvic junction obstruction, Hydronephrosis, Hallux valgus, Long fingers, Fing... OMIM:617557
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, N... ORPHA:221008
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures ORPHA:2769
Pyomyositis
Testicular teratoma, Leukocytosis, Recurrent cutaneous abscess formation, Renal insufficiency ORPHA:764
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Nephrocalcinos... OMIM:617913
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Overlapping toe, Vesicoureteral reflux, P... OMIM:616580
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Monosomy 9Q22.3
Palmar pits, Medulloblastoma, Nephroblastoma, Polydactyly, Cardiac fibroma, Ovarian fibroma, Odon... ORPHA:77301
Stromme Syndrome
Accessory spleen, Hydronephrosis, Bilateral renal hypoplasia, Preaxial polydactyly OMIM:243605
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Tibial torsion, Overlapping toe, Vesicoureteral reflux, 2-3 toe syndactyly, Hydronephrosis, Micro... OMIM:618653
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Epiphyseal stippling, Hypospadias ORPHA:912
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Joubert Syndrome 39
Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Shortening of all distal phalanges of the fingers, Clinodactyly, Hip dysplasia ORPHA:247262
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Uretero... OMIM:280000
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Horseshoe kidney, Hamartoma of tongue, Postaxial polydact... OMIM:174300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Hyperechogenic kidneys, Rhizomelic arm shortening, Proximal femoral metaph... ORPHA:397715
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Short toe, Hydronephrosis, Renal cyst, Flexion contracture of finger, ... ORPHA:464311
Johanson-Blizzard Syndrome
Anemia, Hypoplasia of penis, Hydronephrosis, Hypospadias ORPHA:2315
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hydroureter, Ureterocele, Ectrodactyly, Renal agenesis, Megacystis, Vesicouretera... OMIM:604292
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Splenomegaly, Hydronephrosis, Neurogenic bladder, Adducted thumb OMIM:608779
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... OMIM:180700
Jacobsen Syndrome
Toe clinodactyly, Bone marrow hypocellularity, Multicystic kidney dysplasia, Toe syndactyly, Fing... ORPHA:2308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered fi... ORPHA:487796
Floating-Harbor Syndrome
Nephrocalcinosis, Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of t... OMIM:136140
Focal Dermal Hypoplasia
Toe syndactyly, Laryngeal papilloma, Foot polydactyly, Short metacarpal, Brachydactyly, Postaxial... OMIM:305600
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Leukemia, Dislocated radial head, Hypos... OMIM:180849
Fryns Syndrome
Short distal phalanx of finger, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephros... ORPHA:2059
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosis, Penoscrotal hypospad... OMIM:248340
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bilateral single tran... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Genu valgum, Micropenis, Short femur OMIM:617798
Kabuki Syndrome
Short 5th finger, Abnormal localization of kidney, Small hand, Short middle phalanx of finger, Cr... ORPHA:2322
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephros... OMIM:618454
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Clinodactyly, Short thumb, Renal agenesis, Avas... ORPHA:2044
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Hypospadias, Short thumb, Prominen... OMIM:229850
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Abn... OMIM:209900
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydronephrosis, Cubitus valgus, Deep palmar crease, Clinodactyly of the 5th finger,... OMIM:115150
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polyd... OMIM:619879
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Proteinuria, Postaxial hand... OMIM:619471
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Talipes equinovarus, 2-3 finger syndactyly, Hepatoblastoma, Broad toe, Short greater... OMIM:312870
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Abnormal renal co... ORPHA:280633
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... OMIM:601186
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Horseshoe kidney, Overlapping toe, Clino... ORPHA:221120
Erdheim-Chester Disease
Abnormal epiphysis morphology, Renal insufficiency, Abnormal metaphysis morphology, Hydronephrosi... ORPHA:35687
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Alg9-Cdg
Rhizomelia, Hypoplasia of the bladder, Flared metaphysis, Abnormal renal artery morphology, Hydro... ORPHA:79328
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Proximal renal tubular acidosis OMIM:615824
3Mc Syndrome 1
Short 5th finger, Caudal appendage, Hydronephrosis, Radioulnar synostosis, Single interphalangeal... OMIM:257920
Raine Syndrome
Hydroureter, Micromelia, Long hallux, Bowing of the long bones, Hydronephrosis, Brachydactyly OMIM:259775
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia OMIM:154230
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Hydronephrosis, Cubitus valgu... ORPHA:1340
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hydronephrosis, ... OMIM:129900
Oculodentodigital Dysplasia
Abnormal cortical bone morphology, Hyperostosis, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Granuloma, Ossifying fibroma, Abnormal tibia morphology, Schwannoma, Genu valgum, Renal hypoplasi... ORPHA:363700
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Absent radius OMIM:115470
Oeis Complex
Congenital hip dislocation, Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephr... OMIM:258040
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Duplication of thumb phalanx ORPHA:2995
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Enuresis, Short thumb, Renal agenesis, Short finger, Grade III vesicoureteral r... OMIM:619522
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Postaxial polydactyly, ... OMIM:616546
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormality of the kidney, Polydactyly ORPHA:93400
Cerebellar-Facial-Dental Syndrome
Slender long bone, Ureteropelvic junction obstruction, Single transverse palmar crease, Hydroneph... ORPHA:444072
Robinow Syndrome
Webbed penis, Short distal phalanx of finger, Radioulnar dislocation, Multicystic kidney dysplasi... ORPHA:97360
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Hamartoma of tongue, Polydactyly, Proteinuria, Hypothal... OMIM:311200
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Ves... ORPHA:2363
Intellectual Developmental Disorder, Autosomal Dominant 42
Hand clenching, Limited elbow extension, Ureteropelvic junction obstruction, Narrow palm, Hydrone... OMIM:616973
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Prominent fingertip pads, Recurrent urinary tract infections, Vesicoureteral reflux,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Prominent fingertip pads, Recurrent urinary tract infections, Vesicoureteral reflux,... ORPHA:363958
Adnp Syndrome
Urinary incontinence, Broad thumb, Sandal gap, Broad hallux, Recurrent urinary tract infections, ... ORPHA:404448
Weill-Marchesani Syndrome 1
Joint stiffness, Thin bony cortex OMIM:277600
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney, Single transverse palmar crease, Polydactyly, Fibular hypopla... OMIM:619297
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Crossed fused renal ectopia, Polydactyly, 2-3... OMIM:300960
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Horseshoe kidney, Splenomegaly, Postaxial polydactyly, Short clavicles, Br... OMIM:617088
Spondyloocular Syndrome
Osteopenia, Femur fracture, Thin bony cortex OMIM:605822
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Enuresis, Single transverse palmar crease, Hydronephrosis, Cubitus val... ORPHA:96121
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re... ORPHA:2785
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad hallux, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad hallux, Abn... ORPHA:353277
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... ORPHA:79500
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Hepatosplenomegaly, Pancytopenia, Genu valgum, Abnormal r... OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad hallux, Rec... ORPHA:353281
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Single transvers... ORPHA:83617
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Crumpled long bones, Hydronephrosis, Femoral retroversion, Coxa vara, Pro... OMIM:610682
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Sandal gap, Single transverse palmar crease, Hydr... OMIM:613177
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Sandal gap, Prominent fingertip pads, Short distal phalanx of the ... OMIM:135900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux, Hip dysplasia ORPHA:453499
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Clinodactyly of the 5th finger, Hydronephrosi... ORPHA:1606
Arboleda-Tham Syndrome
Sandal gap, Enlarged proximal interphalangeal joints, Recurrent urinary tract infections, Genu va... OMIM:616268
Joubert Syndrome 14
Postaxial polydactyly, Renal cyst OMIM:614424
Meckel Syndrome, Type 1
Accessory spleen, Postaxial foot polydactyly, Hypoplasia of the bladder, Clinodactyly, Radial dev... OMIM:249000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Hydro... ORPHA:93271
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Hydronephrosis, Talipes equi... OMIM:236680
Culler-Jones Syndrome