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:
Grem,  Drm,  Cktsf1b1,  gremlin

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
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly OMIM:236110
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna, Renal hypoplasia OMIM:212780
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar sy... ORPHA:3266
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Abnormality of tibia morphology, Abnormal ... ORPHA:971
Acrorenal Syndrome
Hand oligodactyly, Abnormal renal morphology OMIM:102520
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hand polydactyly OMIM:235740
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly ORPHA:2935
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Avascular necrosis of the capital femoral epiphys... OMIM:611555
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis, Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula... ORPHA:1837
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hypoplasia OMIM:228940
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Radial-Renal Syndrome
Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb OMIM:179280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Short... OMIM:618845
Acrorenal Syndrome, Autosomal Recessive
Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli... OMIM:201310
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... ORPHA:1471
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the h... ORPHA:2256
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Hydranencephaly OMIM:601355
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Renal agenesis, Abnormal hip bone morphology, Syndactyly, Polydactyly ORPHA:294975
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... ORPHA:1307
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... OMIM:120400
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
Orofaciodigital Syndrome Xvii
Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydac... OMIM:617926
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, Postaxial polydactyly OMIM:600151
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Cutaneous syndactyly, Br... OMIM:236500
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Split-Hand/Foot Malformation 3
Split hand, Renal hypoplasia, Camptodactyly OMIM:246560
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly, Micropenis OMIM:615983
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Joubert Syndrome 22
Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly OMIM:615665
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Hypoplasia of the radius, Crossed fused renal ectopia, Synostosis of ca... ORPHA:3258
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Verheij Syndrome
Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyly, Hip dislocation OMIM:615583
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brachydactyly, Rhiz... OMIM:614376
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Radioulnar synostosis, Renal hypoplasia, Bowing of the l... ORPHA:171839
Adams-Oliver Syndrome 6
Brachydactyly, Renal hypoplasia, Syndactyly, Foot oligodactyly OMIM:616589
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Rhizomelia OMIM:617661
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, Micropenis, Preaxial polydacty... OMIM:618142
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromelia, Abnormality o... ORPHA:1350
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Renal hypoplasia, Ureth... OMIM:601389
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Respiratory insufficiency, Abnormality of tibia morphology ORPHA:2487
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst OMIM:615982
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Finger joint hypermobility, Micropenis OMIM:244200
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... OMIM:602418
Bardet-Biedl Syndrome 16
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, ... OMIM:615993
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... OMIM:181510
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... OMIM:201170
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Hypospadias, Brachydactyly, Polydactyly, S... OMIM:614091
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Adducted thumb OMIM:616603
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral renal agenesi... ORPHA:3306
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:3268
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micro... OMIM:184260
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Clubbing OMIM:219400
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Renal agenesis, Overlapping fingers, Renal hypoplasia, Hydronephrosis, Hip dyspl... OMIM:618494
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Tapered finger, Short finger OMIM:302000
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Nager Syndrome
Unilateral renal agenesis, Hypoplasia of the radius, Aplasia/Hypoplasia of the radius, Phocomelia... ORPHA:245
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, Hip ... OMIM:616362
Fraser Syndrome 2
Aplasia of the bladder, Cutaneous syndactyly, Renal hypoplasia, Renal agenesis OMIM:617666
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, 2-3 toe syndactyly OMIM:608572
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... ORPHA:141152
Fanconi Anemia, Complementation Group W
Hypoplasia of the radius, Renal hypoplasia, Absent thumb OMIM:617784
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... ORPHA:521308
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Hydronephrosis ORPHA:1450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic aciduria, Rocker bottom foot, ... OMIM:604273
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Vacterl Association With Hydrocephalus
Radial club hand, Renal hypoplasia, Absent thumb OMIM:276950
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Summitt Syndrome
Syndactyly OMIM:272350
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Pec... OMIM:607323
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux... OMIM:616854
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Radial bowing, Hypercalciuria OMIM:617993
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... OMIM:102510
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Preaxial hand polydactyly OMIM:608406
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney, Abnormality of limb bone morphology OMIM:118100
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Renal hypoplas... OMIM:619758
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Apnea, Central Sleep
Sleep apnea, Irregular respiration, Cyanosis, Abnormal pattern of respiration, Urinary incontinence OMIM:207720
Primary Pulmonary Hypoplasia
Apnea, Asthma, Hypoxemia, Cyanosis, Ureteral stenosis, Tachypnea, Pulmonary hypoplasia, Abnormal ... ORPHA:2257
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Small thenar eminence, Brachydactyly, Jo... OMIM:618914
Jeune Syndrome
Nephronophthisis, Cone-shaped epiphysis, Nephropathy, Brachydactyly, Micromelia, Postaxial hand p... ORPHA:474
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly ORPHA:52047
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Rocker bottom foot OMIM:616258
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
2-3 toe syndactyly, Micropenis, Unilateral renal agenesis, 3-4 finger cutaneous syndactyly, Campt... OMIM:619951
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopi... OMIM:602200
Microgastria-Limb Reduction Defects Association
Absent thumb, Hand oligodactyly, Unilateral renal agenesis, Hypoplasia of the radius, Cystic rena... OMIM:156810
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Renal hypoplasia/aplasia, Abnormality of finger, Renal agenesis, Multi... ORPHA:2538
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Short tibia, Abnormality of the hand, Micromelia, Oligo... OMIM:251230
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Brachydactyly, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux ORPHA:464288
Acrofacial Dysostosis 1, Nager Type
Overlapping toe, Short toe, Talipes equinovarus, Absent thumb, Unilateral renal agenesis, Hypopla... OMIM:154400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Respirator... ORPHA:1046
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Talipes equinovarus, Hand oligodactyly,... ORPHA:1788
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia o... OMIM:113000
Joubert Syndrome 20
Renal cyst, Syndactyly, Postaxial polydactyly OMIM:614970
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short humerus, Micromelia, Abnormality of th... ORPHA:2491
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Spinal dysraphism, Renal hypoplasia, Sandal gap, Macrodactyly OMIM:612918
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis OMIM:274210
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Pallister-Hall Syndrome
Y-shaped metacarpals, Distal shortening of limbs, Distal urethral duplication, Abnormal lung loba... OMIM:146510
Bresek Syndrome
Hypoplasia of the bladder, Renal dysplasia, Postaxial hand polydactyly, Renal hypoplasia, Vesicou... ORPHA:85284
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bon... OMIM:619751
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... ORPHA:3138
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Unilateral renal agenesis, Absent middle phalanx of 3rd finge... OMIM:308050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Split foot, Spina bifida occulta, Hydronephrosis, Split hand, Cutaneous finger ... OMIM:183802
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Abnormal renal morphology, Renal hy... OMIM:609053
Renal Agenesis
Talipes equinovarus, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder... ORPHA:411709
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst, Multiple sma... OMIM:216360
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, R... ORPHA:363444
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... OMIM:608571
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Unilater... OMIM:101800
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Clinodactyly OMIM:300934
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bilateral single trans... ORPHA:1972
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... ORPHA:166024
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Unilateral renal agenesis, Hyperechogenic kidneys, Proximal tubulopathy, H... OMIM:614576
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia OMIM:254120
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Radioulnar ... OMIM:164900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Perching Syndrome
Respiratory distress, Camptodactyly OMIM:617055
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Congen... OMIM:113650
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney ORPHA:3109
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly, U... OMIM:114150
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Encephalocele, Abnormality of the hand, Aplasi... ORPHA:2911
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Radioulnar synostosis, Hammertoe, A... ORPHA:2319
Fanconi Anemia, Complementation Group F
Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Pelvic kidney, V... OMIM:603467
Silver-Russell Syndrome 3
Syndactyly, Hypospadias, Finger clinodactyly OMIM:616489
Sclerosteosis
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Marden-Walker Syndrome
Talipes equinovarus, Joint contracture of the hand, Micropenis, Arachnodactyly, Hypospadias, Radi... OMIM:248700
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Single transverse palmar crease, Renal insufficiency, Mesomelic arm sho... OMIM:113470
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Renal hypoplasia ORPHA:75389
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Syndactyly, Postaxial polydactyly OMIM:605231
Odontochondrodysplasia
Respiratory distress, Cone-shaped epiphysis, Micromelia, Square pelvis bone, Patent ductus arteri... ORPHA:166272
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Talipes equinovarus, Hypoplasia of the radi... OMIM:266910
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... ORPHA:380
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, ... OMIM:260660
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Urinary incontinence OMIM:615284
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Postaxial hand polydact... OMIM:308205
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydronephrosis ORPHA:251046
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Nephropathy, Hematuria, Micromelia, Aplasia/Hypoplasia of the radius, Proteinuria,... ORPHA:1765
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Pulmonary Alveolar Microlithiasis
Hematuria, Pneumothorax, Respiratory failure, Interlobular septal thickening, Oxygen desaturation... ORPHA:60025
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Talipes equinovarus, Micropenis, Postaxial pol... OMIM:613091
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Renal hypoplasia OMIM:616817
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis, Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bones, Rocker bottom f... ORPHA:95699
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Limb undergrowth, Renal hypoplasia, Ectopic kidney, Clinod... OMIM:616541
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Abnormal metacarpal morphology, Triphalangeal thumb, Abnormal distal p... ORPHA:2673
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Laurence-Moon Syndrome
Hypoplasia of penis, Brachydactyly, Bilateral single transverse palmar creases, Renal insufficien... ORPHA:2377
Chromosome 17Q12 Deletion Syndrome
Long toe, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder, Rec... OMIM:614527
Abruzzo-Erickson Syndrome
Hypospadias, Radioulnar synostosis OMIM:302905
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Metaphyseal irregularity, Tibia... OMIM:300554
Van Maldergem Syndrome 2
Short clavicles, Talipes equinovarus, Short fourth metatarsal, Micropenis, Hypospadias, Abnormali... OMIM:615546
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Respiratory distress, Multiple renal cysts ORPHA:66637
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Abnormal localization of kidney, Proximal pl... ORPHA:1825
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Abnormality of the ureter, Micromelia, Genu valgum, Sandal gap, Umbilical hernia ORPHA:1035
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Charlie M Syndrome
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly ORPHA:1406
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Moebius Syndrome
Respiratory distress, Talipes equinovarus, Micropenis, Brachydactyly, Short phalanx of finger, Sy... OMIM:157900
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Takenouchi-Kosaki Syndrome
Overlapping toe, Unilateral renal agenesis, Hypospadias, Tapered finger, Camptodactyly, Clinodact... OMIM:616737
Rhyns Syndrome
Chronic kidney disease, Radial bowing, Nephronophthisis, Brachydactyly, Short femoral neck, Renal... OMIM:602152
Dent Disease 1
Femoral bowing, Glycosuria, Proximal tubulopathy, Stage 5 chronic kidney disease, Renal phosphate... OMIM:300009
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Renal cyst, Syndactyly, Preaxial hand polydactyly OMIM:263630
Urban-Rogers-Meyer Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormality of the ureter, Camptodactyly of ... ORPHA:3409
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Short 5th finger, Hypoplasia of the ulna, Single transverse palmar crea... OMIM:227270
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Brachyda... ORPHA:950
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb, Renal cyst, Hydroneph... OMIM:613390
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney OMIM:613680
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Prune Belly Syndrome
Urogenital sinus anomaly, Talipes equinovarus, Abnormality of the ureter, Hydroureter, Multicysti... ORPHA:2970
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Tapered finger, Ureteropelvic junction obstruction, Renal h... OMIM:618975
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... ORPHA:2251
Penoscrotal Transposition
Clinodactyly of the 5th finger, Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormali... ORPHA:2842
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Emphysema ORPHA:60
Radio-Renal Syndrome
Respiratory distress, Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Hypoplasia of the ra... ORPHA:3015
Van Maldergem Syndrome 1
Short clavicles, Talipes equinovarus, Short fourth metatarsal, Hypospadias, Abnormality of the ha... OMIM:601390
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of t... OMIM:617102
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Cryofibrinogenemia, Familial Primary
Acrocyanosis, Hematuria, Transient nephrotic syndrome OMIM:123540
Weaver Syndrome
Talipes equinovarus, Hypoplasia of penis, Camptodactyly of finger, Large hands, Broad thumb, Sand... ORPHA:3447
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Short humerus, Enlarged kidney, Hydronephrosis, Hand polydactyly, Proximal plac... OMIM:314390
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Hyperechogenic ki... OMIM:617866
Summitt Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... ORPHA:3210
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Renal agenesis, Brachydactyly, Renal dysplasia... OMIM:277170
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Decreased DLCO, Genu... OMIM:618913
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreas... ORPHA:747
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Poland Syndrome
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle OMIM:173800
Cornelia De Lange Syndrome 1
Short sternum, Hypoplasia of the radius, Micromelia, Single transverse palmar crease, Hypoplastic... OMIM:122470
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Micropenis, Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, Pos... OMIM:264480
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Hypoplastic pelvis, Renal cyst, Renal... OMIM:616300
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Abruzzo-Erickson Syndrome
Short toe, Hypospadias, Coronal hypospadias, Brachydactyly, Ulnar deviation of finger, Radioulnar... ORPHA:921
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Ketonuria, Renal hypoplasia OMIM:619053
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Bifid distal phalanx of toe, Broad palm, Limited elbow extension, Sing... OMIM:618419
Fanconi Anemia, Complementation Group L
Absent thumb, Micropenis, Unilateral renal agenesis, Bilateral talipes equinovarus, Renal hypopla... OMIM:614083
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Renal hypoplasia, Sho... ORPHA:264200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Absent knee epiphyses, Micropenis, Short femur, Femoral bowing, Hypoplastic ilia, Short humerus, ... OMIM:210710
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long... ORPHA:1106
Diamond-Blackfan Anemia 11
Absent thumb, Renal agenesis, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ... OMIM:614900
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Talipes equinovarus, Respiratory insufficiency, Camptodactyly of finger, Re... OMIM:614399
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Clubbing of fingers, Usual interstitial pneumonia... OMIM:178500
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Absent thumb, Micropenis, Syndactyly, Short phalanx of finger, Short thumb, ... OMIM:263650
Emanuel Syndrome
Renal agenesis, Congenital hip dislocation, Renal hypoplasia, Micropenis OMIM:609029
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Short distal phalanx of the thumb, Unilateral renal agenesis, Clinodactyly of the 3rd finger, Con... ORPHA:221139
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Mesomelia, Hip dislocation, Fibular aplasia OMIM:605274
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of toe, 1-3 toe s... OMIM:175700
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology ORPHA:177910
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Bowing of the arm, Cystic renal dysplasia, Brachydactyly, Broad pa... OMIM:269860
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia, Respiratory distress, Rena... OMIM:616733
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Limb undergrowth, Flared elbow metaphyses, Short long bone ORPHA:1423
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Elevated pulmonary artery ... ORPHA:199241
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Ectopic kidney, Aplasia of the 1st metac... OMIM:617247
Emanuel Syndrome
Unilateral renal agenesis, Congenital hip dislocation, Renal hypoplasia, Micropenis ORPHA:96170
Developmental Delay With Or Without Dysmorphic Facies And Autism
Clinodactyly of the 5th finger, Renal cyst, Renal hypoplasia, Short foot, Hydronephrosis, Umbilic... OMIM:618454
Meckel Syndrome 14
Postaxial polydactyly, Cyanosis, Syndactyly, Postaxial hand polydactyly, Polycystic kidney dyspla... OMIM:619879
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Cerebrofacioarticular Syndrome
Talipes equinovarus, Hypospadias, Syndactyly, Camptodactyly, Caudal appendage, Renal hypoplasia ORPHA:314679
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... ORPHA:2879
Dysspondyloenchondromatosis
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... ORPHA:85198
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Hypospadias, Abnormality of the ureter, Nephroblastoma, Syndactyl... OMIM:180860
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... ORPHA:79126
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Short distal phalanx of finger, Flared iliac wing, Carpal... ORPHA:93314
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... OMIM:210720
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Tombstone-shaped proximal phalanges, Widened d... OMIM:108721
Townes-Brocks Syndrome 1
Umbilical hernia, 3-4 finger syndactyly, Vesicoureteral reflux, 1-2 toe syndactyly, Partial dupli... OMIM:107480
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... OMIM:600785
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Genu valgum, Cubitus valgus, Short foot, Madelung deformity, ... ORPHA:314795
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Dyrk1A-Related Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Micropenis, Unilateral renal agenesis, Hypospadias, Arachnodactyl... ORPHA:464306
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Limb-Mammary Syndrome
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand OMIM:603543
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short ... ORPHA:1988
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... ORPHA:1505
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveola... OMIM:616414
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Renal agenesi... ORPHA:508498
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, Micromelia, Sp... ORPHA:2145
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Talipes equinovarus, Aplasia/... OMIM:609945
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, H... ORPHA:457284
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Polydactyly, Chro... ORPHA:137914
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Scalp-Ear-Nipple Syndrome
2-3 toe syndactyly, Renal agenesis, 3-4 finger cutaneous syndactyly, Renal hypoplasia, Renal insu... OMIM:181270
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormality of the kidney, Abnormality of limb bone, Syndactyly,... ORPHA:166119
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Broad distal phalanx of finger,... OMIM:619194
Acro-Renal-Ocular Syndrome
Radial club hand, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Bladder diverticulum, Sho... ORPHA:959
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Jackson-Weiss Syndrome
2-3 toe syndactyly, Broad hallux, Broad metatarsal, Hallux varus, Short metatarsal, Calcaneonavic... OMIM:123150
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Renal hypoplasia, Clinodactyly, Hydronephrosis, Vesicoureteral reflux OMIM:618460
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Scapular winging ORPHA:2901
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Clubbing, Intralobular septal th... OMIM:619611
Andersen-Tawil Syndrome
Renal tubular dysfunction, 2-3 toe syndactyly, Small hand, Renal hypoplasia, Short foot, Clinodac... ORPHA:37553
Birt-Hogg-Dubé Syndrome
Pneumothorax, Renal cell carcinoma, Pulmonary sequestration, Emphysema ORPHA:122
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Holzgreve Syndrome
Hand polydactyly, Abnormal metacarpal morphology, Renal hypoplasia/aplasia, Abnormal morphology o... ORPHA:2167
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Recurrent bronchopulmonary infections, Nephritis, Renal... OMIM:617303
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria... OMIM:231680
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Abnormal local... ORPHA:3429
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... ORPHA:2547
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Congenital megaureter, Split foot, Abnormality of the urinary sys... ORPHA:2437
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria ORPHA:26792
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Clubbing,... OMIM:612387
Kinsship Syndrome
Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Renal hypoplasia... OMIM:619297
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... OMIM:137920
Hypomelanosis Of Ito
Hand polydactyly, Syndactyly, Clinodactyly, Radial deviation of finger OMIM:300337
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Talipes equinovarus, Hydroureter, Hip dysplasia,... OMIM:617219
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Short toe, Flexion contracture of finger, Micropenis, Unilateral renal agenesis, Hypospadias, Tap... ORPHA:464311
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Micropenis OMIM:308750
Klippel-Trenaunay-Weber Syndrome
Hand polydactyly, Macrodactyly, Syndactyly, Hand oligodactyly OMIM:149000
Endove Syndrome, Limb-Brain Type
Aplasia of the 3rd finger, Recurrent urinary tract infections, Hydronephrosis, Umbilical hernia, ... OMIM:619218
Radial Aplasia, X-Linked
Penile hypospadias, Absent radius OMIM:312190
Diaphanospondylodysostosis
Respiratory distress, Talipes equinovarus, Nephrogenic rest, Tracheomalacia, Respiratory insuffic... OMIM:608022
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Talipes equinovarus, Abnormal pe... ORPHA:3404
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Hypospadias, Broad hallux phalanx, Down-sloping shoulders, Campto... ORPHA:1520
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Camptodactyly of f... ORPHA:2839
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Broad thumb... ORPHA:93260
Monosomy 5P
Small hand, Finger syndactyly ORPHA:281
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Metaphyseal irregularity, Tibial bowing, Bowi... OMIM:307800
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Urin... ORPHA:321
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Metaphyseal irregularity, Tibial bowing, Dela... OMIM:241530
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Caudal Regression Syndrome
Talipes equinovarus, Abnormal iliac wing morphology, Renal agenesis, Abnormality of the ureter, U... ORPHA:3027
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... OMIM:274000
Rubinstein-Taybi Syndrome 2
Broad hallux, Broad thumb, Syndactyly OMIM:613684
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Brachydactyly, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirat... ORPHA:70587
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the h... OMIM:208500
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, Cyanosis, Orthopnea, W... ORPHA:98913
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Persistent... ORPHA:1112
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromel...