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
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly OMIM:236110
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Abnor... ORPHA:3266
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Abnor... ORPHA:971
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A... ORPHA:1040
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis ORPHA:2935
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Short long bone, Ureteral atresia, Talipes e... OMIM:618845
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx of finger, Type B brac... ORPHA:1471
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Absent thumb, Unilateral renal agenesis OMIM:179280
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Renal ag... OMIM:212780
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Renal agenesis, Upper limb phocomelia, Syndactyly ORPHA:294975
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... ORPHA:1570
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges... ORPHA:2256
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Broad distal phalanx of the thumb, Renal agenesis, Bifid distal phalanx ... OMIM:120400
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal metacarpal m... ORPHA:3258
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Partial duplicat... OMIM:617926
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Hydronephrosis, Mesoaxial hand pol... OMIM:615996
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Hydranencephaly OMIM:601355
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Split-Hand/Foot Malformation 3
Renal hypoplasia, Split hand, Camptodactyly OMIM:246560
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Finger aplasia, Abse... OMIM:614900
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Respiratory distress, Bronchiolitis, Renal cyst, R... OMIM:615993
Joubert Syndrome 22
Renal hypoplasia, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615665
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My... ORPHA:93322
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Fing... ORPHA:3104
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Broad long bone diaphyses, A... OMIM:614376
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Bowing of the long bones, Renal agenesis, Renal hypoplasia, Short palm, Umbilical he... ORPHA:171839
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Preaxial hand polydactyly, Renal hypoplasia, Renal dysplasia, Urinary bladd... OMIM:601389
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Oligodactyly, Absent fo... OMIM:201170
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Abnormal radial ray morphology, Absent thumb, Hypoplasia of the radius OMIM:617784
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Schizophrenia 1
Ectopic kidney, Renal agenesis, Syndactyly, Partially duplicated kidney, Short proximal phalanx o... OMIM:181510
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow... OMIM:614091
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Micropenis, Unilateral renal agenesis OMIM:244200
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, 2-3 toe syndactyly, Brachydactyly, Tal... ORPHA:3306
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:3268
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Ve... OMIM:608739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Oligodactyly, Short foot, Renal hypoplasia, Umbilical hernia, Abs... OMIM:619758
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Tapered finger, Acrocyanosis OMIM:302000
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip ... OMIM:616362
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agenesis, Aplasia/Hypoplasia of t... ORPHA:245
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Ring Chromosome 8 Syndrome
Deviation of finger, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Vacterl Association With Hydrocephalus
Renal hypoplasia, Radial club hand, Absent thumb OMIM:276950
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Bladd... OMIM:600057
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Epiphyseal dysplasia, Renal hypoplasia... OMIM:616854
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Burn-Mckeown Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Unilateral renal agenesis OMIM:608572
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Lower Limb Malformation-Hypospadias Syndrome
Abnormal tibia morphology, Hypospadias, Abnormality of the ureter ORPHA:2487
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, 3-Methylglutaconic aciduria, Camptodactyly, Renal hypoplasia, Aminoaciduria, ... OMIM:604273
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Clubbing, Crazy paving pattern, Death in... OMIM:610921
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis, Radial bowing OMIM:617993
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal ... OMIM:607323
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyl... ORPHA:2538
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent uppe... OMIM:263000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Unilateral renal agenesis, Sandal gap, Single transverse palmar crease, 2-3 t... OMIM:619951
Perching Syndrome
Cyanosis, Camptodactyly, Respiratory distress OMIM:617055
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Prominent fingertip pads, Renal hypoplasia, Hydronephrosis, Hip dyspla... OMIM:618494
Verheij Syndrome
Branchial cyst, Renal cyst, Renal agenesis, Renal hypoplasia, Short 5th finger, Clinodactyly, Hip... OMIM:615583
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis, Abnormal limb bone morphology OMIM:118100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... OMIM:618914
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias OMIM:179250
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Abnormal acetabulum morpholo... ORPHA:79106
Jeune Syndrome
Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Nephropathy, Abnorm... ORPHA:474
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of... ORPHA:3320
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Vesicoureteral reflux, Short fourth metatarsal, Renal hypoplasia, Brachydactyly ORPHA:464288
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Braddock Syndrome
Preaxial hand polydactyly, Unilateral renal agenesis ORPHA:52047
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... ORPHA:3138
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... ORPHA:93356
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Absent thumb,... OMIM:610832
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Forearm undergrowth, Renal agenesis, Bowed forearm bones, A... OMIM:602200
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Meningocele, Hydronephrosis, Hallux valgus, Multicystic kidney dysplasia OMIM:620511
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Bresek Syndrome
Vesicoureteral reflux, Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasia, R... ORPHA:85284
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Absent thumb, Absent radi... OMIM:251230
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Renal hypoplasia, Nephroblastoma, Spinal dysraphism OMIM:612918
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Unilateral renal agenesis, Epiphyseal stippling,... OMIM:308050
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Patellar hypoplasia, Ureteral stenosis, Tachypnea, Hypoxemia, Apnea, Pulm... ORPHA:2257
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Short long bone, Death in adolescence, Bowing of the long bones... OMIM:619751
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Ectopic kidney, Unilateral renal agenesis OMIM:601076
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Death in infancy, Neonatal death, Int... OMIM:265120
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Abs... OMIM:609053
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ... ORPHA:2302
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Postaxial ha... OMIM:216360
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Hypospadias, Respiratory distress OMIM:300934
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress, Pneumonia, Umbilical hernia OMIM:254120
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger ORPHA:376
Cutis Laxa, Autosomal Dominant 3
Adducted thumb, Unilateral renal agenesis, Talipes equinovarus, Hip dislocation OMIM:616603
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Sandal gap, Hypoplasia of penis, Abnormality of the ureter... ORPHA:1046
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Clinod... ORPHA:166024
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infect... ORPHA:363444
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia ORPHA:2252
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Oligodactyly, Ectrodactyly ORPHA:3016
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Exe... ORPHA:2032
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:101800
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Intellectual Developmental Disorder, Autosomal Dominant 72
Broad palm, Renal hypoplasia, Micropenis, Spina bifida OMIM:620439
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Split hand OMIM:183700
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Postaxial polydactyly, Hyperechogenic kidneys, H... OMIM:614576
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Renal hypoplasia/aplasia, Finger syndactyly, Abnormal pelvic girdle bone morp... ORPHA:1788
Camptobrachydactyly
Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac... OMIM:114150
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Clubbing, Intraalveolar phospholipid accumulation, Nonspecific interstitial... OMIM:610913
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Congenital Disorder Of Glycosylation, Type Iiaa
Short long bone, Hydronephrosis, Unilateral renal agenesis, Bilateral talipes equinovarus OMIM:620454
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Acrodysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ... ORPHA:950
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Hypospadias, Renal cyst, Syndactyly OMIM:605231
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thum... OMIM:154400
Poland Syndrome
Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia, Ureterocele, Cone-shaped epiphy... ORPHA:2911
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Short long bone, Femoral bowing, Metaphyseal spurs, F... OMIM:618188
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia, A... OMIM:603467
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Respiratory distress, Bowing of the long bone... ORPHA:166272
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Postaxial hand polydactyly ORPHA:75389
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Marden-Walker Syndrome
Hypospadias, Camptodactyly, Renal hypoplasia, Arachnodactyly, Radioulnar synostosis, Micropenis, ... OMIM:248700
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Hypospadias, Abnormal metacarpal morphology, ... ORPHA:2319
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p... ORPHA:380
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Madelung deformity, Ulnar bowing, Micromelia, Proteinuria, Aplasia/Hypoplasia of the r... ORPHA:1765
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Encephalocele... OMIM:616300
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Shashi-Pena Syndrome
Short metacarpal, Deep palmar crease, Unilateral renal agenesis OMIM:617190
Diaphanospondylodysostosis
Narrow pelvis bone, Multiple renal cysts, Myelomeningocele, Respiratory distress ORPHA:66637
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Clubbing, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, R... OMIM:610910
6P22 Microdeletion Syndrome
Finger syndactyly, Hydronephrosis, Clinodactyly ORPHA:251046
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Hypospadias, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metac... OMIM:175700
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Down-sloping shoulders OMIM:616817
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Mesomelic Dysplasia, Savarirayan Type
Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Anterior tibial bowing, Dislocated ... OMIM:605274
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal morphology, Abnormal distal p... ORPHA:2673
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis, Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact... ORPHA:2377
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Moebius Syndrome
Radial deviation of finger, Respiratory distress, Split hand, Abnormal pelvic girdle bone morphol... OMIM:157900
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty... ORPHA:1825
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Metaphyseal irregularity, Fibular bowing, Renal phosphate wasti... OMIM:300554
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Limb undergrowth, Micropenis, Clinod... OMIM:616541
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Madelung deformity, Radial bowing DECIPHER:58
Bartsocas-Papas Syndrome 1
Ectopic kidney, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phala... OMIM:263650
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S... OMIM:609638
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Preaxial hand polydactyly, Syndactyly, Renal cyst OMIM:263630
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Ectopic kidney, Clinodactyly of the 5th finger ORPHA:94063
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Long toe, Upper limb undergrowth, Recurrent urinary tract infections, ... OMIM:614527
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300009
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Unilateral renal agenesis, Hypospadias, Tapered finger, Camptodactyl... OMIM:616737
Congenital Myopathy 17
Overlapping fingers, Tapered finger, Renal hypoplasia, Hand clenching, Hydronephrosis, Ureteropel... OMIM:618975
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr... OMIM:227270
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Hydronephrosis, Absent thumb, ... OMIM:613390
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Penoscrotal Transposition
Penoscrotal transposition, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi... ORPHA:2842
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria, Acrocyanosis OMIM:123540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Single transverse palmar crease, Ketonuria OMIM:619053
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, Single transverse palmar crease,... OMIM:617866
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, Micromelia, Abnormality of the ureter, Arachnodactyly, Umbilical hernia ORPHA:1035
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... OMIM:618913
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Hypospadias, Short middle phalanx of the 5th finger, Abnormality ... OMIM:180860
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Weaver Syndrome
Abnormal metaphysis morphology, Sandal gap, Hypoplasia of penis, Finger syndactyly, Broad thumb, ... ORPHA:3447
Van Maldergem Syndrome 1
Short 4th metacarpal, Hypospadias, Short clavicles, Camptodactyly, Short fourth metatarsal, Renal... OMIM:601390
Van Maldergem Syndrome 2
Short 4th metacarpal, Hip subluxation, Hypospadias, Short clavicles, Short fourth metatarsal, Ren... OMIM:615546
Emanuel Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Congenital hip dislocation, Renal ... OMIM:609029
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Dyspnea, Hypoxemia, Respirator... ORPHA:79127
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly, Acrocyanosis ORPHA:2901
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ... OMIM:615986
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Severe Acute Respiratory Syndrome
Acute kidney injury, Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia ORPHA:140896
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis OMIM:613680
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... ORPHA:70589
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Birt-Hogg-Dubé Syndrome
Pneumothorax, Renal cell carcinoma, Pulmonary sequestration, Emphysema ORPHA:122
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Respiratory dis... OMIM:617102
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Radio-Renal Syndrome
Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormality of the elbow, Chylothorax, Respir... ORPHA:3015
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Abnormal ulnar metaphysis morphology, Short foot, Narrow palm ORPHA:177910
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Dy... ORPHA:60033
Rhyns Syndrome
Nephronophthisis, Short long bone, Radial bowing, Short femoral neck, Chronic kidney disease, Bra... OMIM:602152
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Bilateral talipes equinovarus, Renal hypoplasia, Absent thumb, Absent ... OMIM:614083
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hematuria, Exertional dyspnea, Clubbing of fingers, Bronchitis,... ORPHA:60025
Cornelia De Lange Syndrome 1
Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, H... OMIM:122470
Short-Rib Thoracic Dysplasia 12
Short finger, Anencephaly, Short long bone, Bowing of the arm, Renal hypoplasia, Short palm, Limb... OMIM:269860
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Resp... OMIM:151210
Pseudotrisomy 13 Syndrome
Encephalocele, 2-3 toe syndactyly, Postaxial hand polydactyly, Renal agenesis, Renal hypoplasia, ... OMIM:264480
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Unilateral renal agenesis, Single transverse palmar crease, Bifid distal... OMIM:618419
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinod... ORPHA:221139
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Respirato... OMIM:616733
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Sandal gap, Camptodactyl... OMIM:206920
Dysspondyloenchondromatosis
Metaphyseal enchondromatosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, G... ORPHA:85198
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Syndactyly OMIM:615284
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Absent scaphoid, Ectopic kidney, Aplasia of the 1st metacarpal, Absent ... OMIM:617247
Cerebrofacioarticular Syndrome
Caudal appendage, Hypospadias, Camptodactyly, Renal hypoplasia, Syndactyly, Talipes equinovarus ORPHA:314679
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Clinodactyly of the 5th finger, Hypospadias, Ulnar bowing, Flared metaph... OMIM:210720
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Genu valgum, Broad distal... OMIM:619194
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Vesicoureteral reflux, Umbilical hernia, Renal hypoplasia, Syndactyly,... OMIM:620654
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T... ORPHA:70587
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi... OMIM:600785
Lethal Recessive Chondrodysplasia
Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Limb undergrowth ORPHA:1423
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormality of the upper urinary tract, Micromelia, Brachydactyly,... ORPHA:2145
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis, Congenital hip dislocation ORPHA:96170
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Hypospadias, Respiratory distress, Glandular hypospadias, Death in infancy, Neonatal... OMIM:300219
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormal morphology o... ORPHA:2167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Hypospadias, Pelvic kidney, Short 5th fi... ORPHA:508498
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertional dyspnea, Clubbing of fingers, Ab... ORPHA:199241
Malaria
Acute kidney injury, Respiratory distress ORPHA:673
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypospadias, Acromesomeli... ORPHA:464306
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Dyspnea, Bronchiectasis, Tachypnea, Hypoxemia, Interlobular septal... ORPHA:79126
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ... OMIM:612387
Czeizel-Losonci Syndrome
Congenital megaureter, Hitchhiker thumb, Spina bifida occulta, Single transverse palmar crease, E... ORPHA:2437
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Broad thumb, Urethral valve, Umbilical hernia, Aplasia/Hypoplasia of... OMIM:107480
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Renal tubular dysfunction, 2-3 toe syndactyly, Renal hypoplasia, Sho... ORPHA:37553
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Acro-Renal-Ocular Syndrome
Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, C... ORPHA:959
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Hypomelanosis Of Ito
Hand polydactyly, Clinodactyly, Radial deviation of finger, Syndactyly OMIM:300337
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Polycystic kidney dysplasia, Postaxial hand polydactyly, B... OMIM:619879
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, H... ORPHA:457284
Endove Syndrome, Limb-Brain Type
Aplasia of the 3rd finger, Talar aplasia, Recurrent urinary tract infections, Neurogenic bladder,... OMIM:619218
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys OMIM:617914
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Death in childhood, Respiratory distress, Clubbing, Focal segmental glomeruloscl... OMIM:617303
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... ORPHA:2547
Waardenburg Syndrome Type 3
Atelectasis, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bone... ORPHA:896
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Renal h... OMIM:619297
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Multiple Osteochondromas
Abnormal femur morphology, Cervical myelopathy, Abnormal lower limb bone morphology, Deformed for... ORPHA:321
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias OMIM:312190
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Isolated Osteopoikilosis
Abnormality of the kidney, Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal ... ORPHA:166119
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Congenital hip dislocation, Epiphyseal dysplasia, Renal hypoplasia, Nephro... OMIM:617913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Short foot, Renal cyst, Hydronephrosis, Fl... ORPHA:464311
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger syndactyly, Camptodactyly of fing... ORPHA:1520
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Clinodactyly of the 5th finger, Vesicoureteral reflux, Nephrolithiasis, Hip dysplasi... OMIM:617219
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Dislocated radial ... ORPHA:2839
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Respiratory distress, Renal cortical cyst... OMIM:231680
Monosomy 5P
Finger syndactyly, Small hand ORPHA:281
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M... ORPHA:2249
Scalp-Ear-Nipple Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Finger syndactyly, 2-3 toe syndactyly,... OMIM:181270
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal hypoplasia, Umbilical hernia, Renal dysplasia, Renal insufficiency ORPHA:85321
Cach Syndrome
Renal hypoplasia ORPHA:135
Pfeiffer Syndrome Type 3
Short hallux, Finger syndactyly, Respiratory distress, Vesicoureteral reflux, Short foot, Broad t... ORPHA:93260
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria ORPHA:26792
Ehlers-Danlos Syndrome, Classic-Like, 1
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Pallister-Hall Syndrome
Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... ORPHA:672
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Talipes equinovarus, Respiratory distress OMIM:614399
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Respiratory distress, Short humeru... OMIM:607143
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... OMIM:602875
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Short metacarpal, Humeror... ORPHA:3404
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasi... OMIM:274000
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ... OMIM:208500
Bnar Syndrome
Renal agenesis, Abnormal fifth toe morphology ORPHA:217266
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Hypopl... ORPHA:2879
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia, Clinodactyly of the 5th finger OMIM:619695
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Renal phosphate wasting, Cupped metaphyses of hand bones, Tibial bow... OMIM:307800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Cyan... ORPHA:747
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Renal hypoplasia ORPHA:254913
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Alfadhel Syndrome
Nasal flaring, Horseshoe kidney, Talipes equinovarus OMIM:620655
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia o... ORPHA:1112
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Fetal megacystis, Arachnodactyly, Short palm, Toe syndactyly, Multicystic kidn... ORPHA:73246
Cornelia De Lange Syndrome
Bilateral single transverse palmar creases, Short 1st metacarpal, Hypospadias, Multicystic kidney... ORPHA:199
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Brachydactyly, Short thum... OMIM:600325
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn... OMIM:137920
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory distress, Homocystinuria, Slender finger, Methylmalonic aciduria OMIM:250940
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Respiratory distress, Elbow flexion contracture, Wrist flexion contracture, H... ORPHA:1143
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Bruising susceptibility, Subcutaneous hemorrhage, Micropenis ORPHA:335
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Pfeiffer Syndrome Type 1
Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short palm, Hallux... ORPHA:93258
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Respiratory di... OMIM:156550
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Fibular bowing, Renal phosphate wasting, Enlargement of the wrists, Hypercalciuria, Bulging epiph... OMIM:241530
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Neurooculorenal Syndrome
Unilateral renal agenesis, Short hallux, Bilateral renal agenesis, Stage 2 chronic kidney disease... OMIM:620305
Holt-Oram Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o... ORPHA:392
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho... ORPHA:50251
Interstitial Lung Disease 2
Exertional dyspnea, Clubbing of fingers, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:178500
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Postaxial polydactyly, Renal hypoplasia,... OMIM:618460
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Spina bifida occulta OMIM:619227
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Baller-Gerold Syndrome
Hypoplasia of the ulna, Abnormality of the kidney, Hypoplasia of the radius, Limited elbow moveme... OMIM:218600
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Abnormal iliac wing morphology, Vesicoureteral reflux, Abno...