Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gremlin 1, DAN family BMP antagonist
Synonyms:
gremlin,  Drm,  Cktsf1b1,  Grem

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Grem1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Grem1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Mixed Polyposis Syndrome
ORPHA:157794

The table below shows human diseases predicted to be associated to Grem1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly OMIM:236110
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Renal hypoplasia, Hypoplasia of the ulna, Syndactyly, Renal agenesis OMIM:212780
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis OMIM:256690
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Acrorenal Syndrome
Abnormal renal morphology, Hand oligodactyly OMIM:102520
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Radial-Renal Syndrome
Absent thumb, Absent radius, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Crossed Polysyndactyly
Postaxial hand polydactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Mesomelia, Hypoplasia of the ulna, Syndactyly, Renal cyst OMIM:228940
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Split hand, Radial deviation of finger, Clinodac... OMIM:201310
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Unilateral renal agenesis, Short long bone, Ureteral atresia, Talipes e... OMIM:618845
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Short distal phalanx of finger, Type B brachydactyly, Renal... ORPHA:1471
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Renal hypoplasia, Hypoplasia of... ORPHA:2256
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology, Renal agenesis ORPHA:294975
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Renal hypoplasia, Rhizomelia, Glomerulon... OMIM:614376
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly OMIM:614416
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Renal... OMIM:120400
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Renal hypoplasia, Aplasia/Hypoplasia of the radius, Abnormality ... ORPHA:1307
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Brachydactyly, Renal dysplasia, Renal cyst, Cutaneous synda... OMIM:236500
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Split-Hand/Foot Malformation 3
Renal hypoplasia, Split hand, Camptodactyly OMIM:246560
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Acrorenal Syndrome
Abnormal renal morphology, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the... ORPHA:971
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Polydactyly, Renal hypoplasia, Stage 5 chronic kidney disease OMIM:614377
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Joubert Syndrome 22
Renal hypoplasia, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615665
Verheij Syndrome
Renal hypoplasia, Clinodactyly, Renal cyst, Renal agenesis, Hip dislocation, Short 5th finger OMIM:615583
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, Postaxial polydactyly OMIM:600151
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Crossed fused renal ectopia, Toe syndactyly, Radioulnar s... ORPHA:3258
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Penile hypospadias, Swan neck-like deformities of the fingers, Penoscrotal h... ORPHA:329252
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Preaxial polydactyly, Unilateral renal agenesis, Postaxial polydactyly, Bila... OMIM:618142
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Radioulnar synostosis, Renal agenesis, Renal hypoplasia, Bowing of the long bones... ORPHA:171839
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Respiratory distress, Bronchiolitis, Renal dysplasia, ... OMIM:615993
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Chronic kidney disease OMIM:617661
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypopl... OMIM:601389
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Renal cyst, Brachydactyly, Abnormality of the kidney OMIM:615982
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Ring Chromosome 8 Syndrome
Short nose, Abnormality of the ureter, Hydronephrosis, Anteverted nares, Deviation of finger ORPHA:1450
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of tibia morphology, Respiratory insufficiency, Abnormality of the ureter ORPHA:2487
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Renal hypoplasia, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydact... OMIM:614091
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Syndactyly, Ectopic kidney, R... OMIM:181510
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodactyly, Talipes equinova... OMIM:201170
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Tubulointerstitial fibrosis, Recurrent uppe... OMIM:263000
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Hydronephrosis, Absent thumb, Proximal pl... OMIM:602418
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabular r... OMIM:184260
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Fanconi Anemia, Complementation Group W
Absent thumb, Renal hypoplasia, Hypoplasia of the radius, Abnormality of radial ray OMIM:617784
Cutis Laxa, Autosomal Dominant 3
Talipes equinovarus, Hip dislocation, Adducted thumb, Unilateral renal agenesis OMIM:616603
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Unilateral renal agenesis, Talipes equinovarus, Clinodactyly of the 5th finge... ORPHA:3306
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Renal hypoplasia OMIM:276950
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Death in childhood, Tapered finger OMIM:302000
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hip dysplasia, Overlapping fingers, Overlapping toe, Renal hypoplasia, Hydronephrosis, Renal agen... OMIM:618494
Cyanosis And Hepatic Disease
Clubbing, Cyanosis, Dyspnea OMIM:219400
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Nager Syndrome
Hypoplasia of the radius, Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Aplasia/Hy... ORPHA:245
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing, Nephritis OMIM:127350
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Abnormal... OMIM:600057
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late ins... ORPHA:2302
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Fraser Syndrome 2
Cutaneous syndactyly, Renal agenesis, Renal hypoplasia, Aplasia of the bladder OMIM:617666
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:3268
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Clinodactyly of the 3rd toe, Clinodactyly of the 5th finger, Abnormality of the han... ORPHA:521308
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Summitt Syndrome
Syndactyly OMIM:272350
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Unilateral renal agenesis OMIM:608406
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Capitate-hamate fusio... OMIM:102510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing, Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Patent ductus arteriosus, Choanal atresia, Mesoaxial foot poly... OMIM:146510
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Sandal gap, Absent radius, Vesicoureteral reflux, Short thumb, Spina... OMIM:607323
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Braddock Syndrome
Preaxial hand polydactyly, Unilateral renal agenesis ORPHA:52047
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Meckel Syndrome 12
Renal hypoplasia, Rocker bottom foot, Renal agenesis, Ureteral hypoplasia OMIM:616258
Jeune Syndrome
Nephronophthisis, Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Nephropathy,... ORPHA:474
Apnea, Central Sleep
Sleep apnea, Irregular respiration, Urinary incontinence, Abnormal pattern of respiration, Cyanosis OMIM:207720
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Dysplasia of the fem... OMIM:616854
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Hy... OMIM:156810
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Overlap... OMIM:154400
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Hypospadias OMIM:179250
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Joubert Syndrome 20
Syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Perching Syndrome
Camptodactyly, Respiratory distress, Depressed nasal bridge OMIM:617055
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Renal hypoplasia, Vesicoureteral reflux, Patellar hypoplasia, Brachydactyly ORPHA:464288
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Brachydactyly, Type B1
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis OMIM:274210
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Bifid distal phalanx of toe, Limited elbow extension, Broad palm, Unilateral renal... OMIM:618419
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Renal hypoplasia, 2-3 toe syndactyly, Joint contracture of the 5th finger,... OMIM:618914
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Abnormality of the kidney, Broad thumb, Horseshoe kidney, Finger syndactyly, Add... ORPHA:3320
Burn-Mckeown Syndrome
Renal hypoplasia, 2-3 toe syndactyly OMIM:608572
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Bresek Syndrome
Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicou... ORPHA:85284
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Sandal gap, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs... ORPHA:1046
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Fibular hypoplasia, Renal insufficiency, Ulna... OMIM:113470
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Bowed forearm bones, Forearm undergrowth, Absent radius, Ectopic kidney, Absent... OMIM:602200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Odontochondrodysplasia
Short nose, Respiratory distress, Square pelvis bone, Micromelia, Bowing of the long bones, Death... ORPHA:166272
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Crossed fused renal ectopia, Renal agenesis, Abnormality of finger, Ho... ORPHA:2538
Ulnar-Mammary Syndrome
Absent hand, Camptodactyly of finger, Postaxial hand polydactyly, Abnormality of finger, Renal hy... ORPHA:3138
Renal Agenesis
Renal insufficiency, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis,... ORPHA:411709
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Short 1s... OMIM:609053
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Overlapping toe, Camptodactyly, Recurrent urinary tract infections, Unilateral ... ORPHA:363444
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Ureteral atresia, Split foot, Hydronephrosis, Spina bifi... OMIM:183802
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Polycystic kidney dy... OMIM:617866
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand OMIM:225280
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Broad pa... OMIM:101800
Bronchopulmonary Dysplasia
Pulmonary sequestration, Hyperoxemia, Abnormal lung morphology, Abnormal respiratory system morph... ORPHA:70589
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Hypoplasia of the ulna, Bilateral single transverse p... ORPHA:1972
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, H... ORPHA:1788
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly OMIM:183700
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Ectopic kidney, Unilateral renal agenesis ORPHA:3109
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias, Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Clinodactyly, Respiratory distress OMIM:300934
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Hematuria, Proteinuria, Madelung deformity, Aplasia/Hypoplasia of the radius, Neph... ORPHA:1765
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Proximal tubulopathy, Unilateral renal agenesis, Postaxial polydactyly, Hyperechog... OMIM:614576
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Umbilical hernia, Sandal gap, Abnormality of the ureter, Arachnodactyly, Anteverted ... ORPHA:1035
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Hydronephrosis, Renal cyst, Short thumb, Stage 5 chronic kidney disease... OMIM:613390
Severe Acute Respiratory Syndrome
Dyspnea, Acute kidney injury, Respiratory distress, Cough, Acute infectious pneumonia, Respirator... ORPHA:140896
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Coach Syndrome 1
Nephronophthisis, Postaxial hand polydactyly, Unilateral renal agenesis, Renal cyst, Stage 5 chro... OMIM:216360
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Branchial cyst, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Urinary incontinence, Syndactyly, Short... OMIM:114150
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Respiratory distress, Postaxial polydactyly, Limb unde... OMIM:617102
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Broad palm, Aplasia/Hypoplasia of metatarsal bones... ORPHA:2502
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Sclerosteosis
Curved distal phalanges of the hand, 2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Moebius Syndrome
Short phalanx of finger, Abnormal nasopharynx morphology, Respiratory distress, Split hand, Campt... OMIM:157900
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Silver-Russell Syndrome 3
Hypospadias, Syndactyly, Finger clinodactyly OMIM:616489
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Horseshoe... ORPHA:2319
Fanconi Anemia, Complementation Group F
2-3 finger syndactyly, Hypoplasia of the radius, Microphallus, Renal hypoplasia, Vesicoureteral r... OMIM:603467
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Renal hypoplasia, Short sternum, Aplasia of the ulna, Renal dysplasia, ... OMIM:266910
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... OMIM:228900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Postaxial hand polydactyly ORPHA:75389
Marden-Walker Syndrome
Radioulnar synostosis, Renal hypoplasia, Camptodactyly, Joint contracture of the hand, Hypospadia... OMIM:248700
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Flexion contracture... ORPHA:3409
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Poland Syndrome
Absent hand, Split hand, Duplicated collecting system, Unilateral brachydactyly, Vesicoureteral r... ORPHA:2911
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Enlarged kidney, Micropenis, Preaxial polydactyly, Cone-shaped... OMIM:613091
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Hypoplasia of the bladder, Hyperechogenic kidneys, Renal hypoplasia, Recu... OMIM:614527
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Postaxial hand polydactyly, Unilateral renal agenesis, Umbilical hernia, Multicystic kidney dyspl... OMIM:308205
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Congenital hip dislocation, Aminoaciduria OMIM:617913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Tarsal synostosis, Camptodactyly, Vesicoureteral reflux, Elbow flexion contracture, Femoral bowin... ORPHA:95699
Neurofaciodigitorenal Syndrome
Abnormality of the elbow, Unilateral renal agenesis, Abnormality of the metacarpal bones, Abnorma... ORPHA:2673
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis, Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Unilateral renal agenesis, Limb undergrowth, Clinodactyly, Ectopic kidney, Micr... OMIM:616541
Cryofibrinogenemia, Familial Primary
Acrocyanosis, Hematuria, Transient nephrotic syndrome OMIM:123540
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Renal phosphate wasting, Low-molecular-weight proteinuria, Metaphyseal irregul... OMIM:300554
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Juberg-Hayward Syndrome
Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of ... OMIM:216100
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Syndactyly OMIM:615284
6P22 Microdeletion Syndrome
Clinodactyly, Hydronephrosis, Finger syndactyly ORPHA:251046
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Down-sloping shoulders OMIM:616817
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300009
Radio-Renal Syndrome
Hypoplasia of the radius, Renal agenesis, Respiratory distress, Dyspnea, Pleural effusion, Microm... ORPHA:3015
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Preaxial hand polydactyly, Renal cyst, Syndactyly OMIM:263630
Takenouchi-Kosaki Syndrome
Overlapping toe, Camptodactyly, Unilateral renal agenesis, Clinodactyly, Hydronephrosis, Hypospad... OMIM:616737
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Laurence-Moon Syndrome
Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases, Hypoplasia of pe... ORPHA:2377
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts, Myelomeningocele, Narrow pelvis bone ORPHA:66637
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Clubbing of fingers, Pulmonary capillary hemangiomatosis, Interlobula... ORPHA:199241
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
Van Maldergem Syndrome 2
Short 4th metacarpal, Short fourth metatarsal, Renal hypoplasia, Clinodactyly, Cutaneous finger s... OMIM:615546
Fanconi Anemia, Complementation Group L
Absent thumb, Renal hypoplasia, Micropenis OMIM:614083
Charlie M Syndrome
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... ORPHA:1406
Townes-Brocks Syndrome 1
3-4 toe syndactyly, Short metatarsal, Broad thumb, Pseudoepiphyses of second metacarpal, Clinodac... OMIM:107480
Rhyns Syndrome
Radial bowing, Nephronophthisis, Renal insufficiency, Chronic kidney disease, Short femoral neck,... OMIM:602152
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hip subluxation, Protrusio acetabuli, Flattened femoral head, Coxa vara, Broad rad... ORPHA:99642
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Clinodactyly of the 5th finger, Ectopic kidney ORPHA:94063
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... OMIM:210720
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Abnormal localization of kidney, Abnormality of the... ORPHA:1825
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... OMIM:227270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Trisomy 4P
Radial club hand, Preaxial hand polydactyly, Camptodactyly of finger, Hypospadias ORPHA:1738
Pfeiffer Syndrome Type 3
Short hallux, Horseshoe kidney, Short nose, Broad thumb, Toe syndactyly, Hallux varus, Finger syn... ORPHA:93260
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Absent radius, Hydronephrosis... OMIM:314390
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly OMIM:300801
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Overlapping toe, Renal hypoplasia, Ureteropelvic junction obstruction, Clino... OMIM:618975
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Penoscrotal Transposition
Penoscrotal transposition, Bilateral single transverse palmar creases, Abnormality of the ureter,... ORPHA:2842
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... OMIM:605432
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Prune Belly Syndrome
Talipes equinovarus, Urogenital sinus anomaly, Congenital hip dislocation, Hydroureter, Patent du... ORPHA:2970
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Sandal gap, Neonatal death, Syndactyly, Tapered distal phal... OMIM:609638
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Van Maldergem Syndrome 1
Short 4th metacarpal, Short fourth metatarsal, Renal hypoplasia, Clinodactyly, Cutaneous finger s... OMIM:601390
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Weaver Syndrome
Camptodactyly of finger, Broad thumb, Finger syndactyly, Large hands, Sandal gap, Hypoplasia of p... ORPHA:3447
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome ORPHA:60
Fanconi Renotubular Syndrome 5
Genu valgum, Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuri... OMIM:618913
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Triphalangeal ... ORPHA:2251
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Hydroureter, Patent ductus arteriosus, Symphalangism affecti... ORPHA:2547
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Phocomelia, Elbow flexion contracture, Limited elbow extension, Hypoplasia... OMIM:122470
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Single transverse palmar crease OMIM:619053
Choanal Atresia
Respiratory distress, Polydactyly, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia... ORPHA:137914
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Poland Syndrome
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly OMIM:173800
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Clinodactyly of the 4th finger, Cone-shaped epiphysis, Broad middle phalanx of finger, Recurrent ... ORPHA:221139
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses, Limb undergrowth, Short long bone, Micromelia ORPHA:1423
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Tetraploidy
Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Finger syndactyly, Renal hypoplasia, Short 5th metacarpal, ... ORPHA:264200
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Emanuel Syndrome
Renal hypoplasia, Renal agenesis, Micropenis, Congenital hip dislocation OMIM:609029
Pulmonary Fibrosis, Idiopathic
Clubbing of fingers, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Co... OMIM:178500
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Short tibia, Hip dislocation, Fibular aplasia OMIM:605274
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Isolated Cloverleaf Skull Syndrome
Finger syndactyly ORPHA:2343
Emanuel Syndrome
Renal hypoplasia, Micropenis, Congenital hip dislocation, Unilateral renal agenesis ORPHA:96170
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Renal hypoplasia, Rhizomelia, Preaxial polydactyly, Post... OMIM:616300
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Pulmonary hypoplasia, Respirato... OMIM:616733
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Pseudotrisomy 13 Syndrome
Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Ren... OMIM:264480
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Brachydactyly, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx, Patent ductus ... OMIM:217980
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short femur, Elbow dislocation, Renal hypoplasia, Micropenis, Enlarged metaphyses, Hypoplastic il... OMIM:210710
Nail-Patella Syndrome
Limited elbow extension, Triceps aplasia, Biceps aplasia, Hematuria, Renal insufficiency, Spina b... OMIM:161200
Bartsocas-Papas Syndrome 1
Oligodactyly, Talipes equinovarus, Short phalanx of finger, Hypoplastic scapulae, Hypoplastic ili... OMIM:263650
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, B... OMIM:307800
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Cerebrofacioarticular Syndrome
Renal hypoplasia, Camptodactyly, Syndactyly, Caudal appendage, Hypospadias, Talipes equinovarus ORPHA:314679
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Proxima... OMIM:231680
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Smith-Lemli-Opitz Syndrome
Hip subluxation, Epiphyseal stippling, Metatarsus adductus, Short thumb, Micropenis, Postaxial ha... OMIM:270400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, Clinodactyly of th... ORPHA:457284
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Finger syndactyly, Genu valgum, Clinodactyly, Abnormality of epiphysis morphology ORPHA:166024
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Polydactyly, Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney... ORPHA:464306
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Respiratory distress, Cystic renal dysplasia, Enlarged kidney, N... OMIM:608022
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Renal cy... OMIM:618454
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Tracheo... ORPHA:896
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Focal segmental glomerulosclerosis, Enlarged kidney, F... OMIM:617303
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... OMIM:108721
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Urethral valve, Abnormality of the ureter, Syndactyly, Ne... OMIM:180860
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis, Unilateral re... OMIM:619194
Jackson-Weiss Syndrome
Short metatarsal, Hallux varus, Broad metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, B... OMIM:123150
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Short-Rib Thoracic Dysplasia 12
Short toe, Broad palm, Cystic renal dysplasia, Renal hypoplasia, Hypoplastic scapulae, Short fing... OMIM:269860
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, Ab... ORPHA:1505
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormality of the urethra, Abnormality of the upper urinary tract... ORPHA:2145
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Abno... ORPHA:3429
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Long palm, Choanal atresia, Wide nasal bridge, Respiratory failure... ORPHA:2759
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Bulbous nose, Respiratory distress, Enlarged kidney, Tapered toe, Respiratory insufficienc... OMIM:608836
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria, Respiratory distress ORPHA:26792
Limb-Mammary Syndrome
Split hand, Camptodactyly, Syndactyly, Split foot, Joint contracture of the hand, Hallux valgus OMIM:603543
Acro-Renal-Ocular Syndrome
Radial club hand, Crossed fused renal ectopia, Broad hallux phalanx, Sandal gap, Vesicoureteral r... ORPHA:959
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short metacarpal, C... OMIM:605282
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Preaxial hand polydactyly, Broad thumb, Renal agenesis, Overlapping toe, Horseshoe ... ORPHA:508498
Osteoglophonic Dysplasia
Short metatarsal, Short phalanx of finger, Chordee, Depressed nasal bridge, Respiratory distress,... OMIM:166250
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Humeroradial synostosis, Renal hypoplasia, Abnormal penis morphology, S... ORPHA:3404
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormality of the kidney, Abnormal lung morphology, Wheezing, Respirator... ORPHA:141127
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Short toe, Flexion contracture of finger, Micropenis, Unilateral renal agenesis, Short foot, Rena... ORPHA:464311
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Scalp-Ear-Nipple Syndrome
Renal agenesis, Pyelonephritis, Renal hypoplasia, 2-3 toe syndactyly, 3-4 finger cutaneous syndac... OMIM:181270
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Postaxial polydactyly, Clinodactyly, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Respiratory distress, Micromelia, Hypoplastic ilia, Postaxial polydacty... OMIM:617895
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Radial Aplasia, X-Linked
Penile hypospadias, Absent radius OMIM:312190
Malaria
Acute kidney injury, Respiratory distress ORPHA:673
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Congenital megaureter, Abnormality of... ORPHA:2437
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Hypomelanosis Of Ito
Clinodactyly, Syndactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Hydroureter, Vesicoureteral reflux, Talipes equinovarus, Clinodactyly of the 5th f... OMIM:617219
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Renal cell carcinoma, Pneumothorax ORPHA:122
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Patent ductus arteriosus, Small hand... OMIM:608799
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Campomelic Dysplasia
Apnea, Respiratory distress, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hypopl... OMIM:114290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Hypercalciur... OMIM:241530
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Umbilical hernia, Hydrone... OMIM:619218
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Shwachman-Diamond Syndrome 1
Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, R... OMIM:260400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Spina bifida occulta OMIM:619227
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Monosomy 5P
Small hand, Finger syndactyly ORPHA:281
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, 4-5 finger syndactyly, 2-5 finger syndactyly, Microphallus, Abnormal ren... ORPHA:468631
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypopla... OMIM:208500
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Cleft Palate, Cardiac Defects, And Mental Retardation
Broad thumb, 2-3 toe syndactyly, Sandal gap, Cutaneous syndactyly, Broad hallux, Short 5th finger... OMIM:600987
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Weakness of the intrinsic hand mus... ORPHA:98913
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad thumb, Broad hallux OMIM:613684
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Joint contracture of the ha... OMIM:600325
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted