Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spalt like transcription factor 1
Synonyms:
Msal-3

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 Sall1 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 Sall1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sall1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... ORPHA:93321
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all distal phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... OMIM:182255
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Dislocated radial head, Limited elbow extension, Radioulnar synostosis OMIM:179300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Hydronephrosis, Abnormality of the urinary system, Bifid distal ph... ORPHA:2669
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... ORPHA:50809
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... OMIM:609655
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, Irregular epiphy... OMIM:603546
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Absent... OMIM:606895
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Toe syndactyly, Reduced proximal interphalangeal joint space, Symp... ORPHA:3246
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Delayed ossification of carpal bones, Pre... OMIM:105835
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Distal Symphalangism
Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Camptodactyly of f... ORPHA:3248
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Holzgreve Syndrome
Renal hypoplasia, Cleft palate, Renal agenesis, Hand polydactyly OMIM:236110
Tukel Syndrome
Carpal synostosis, Syndactyly, Postaxial oligodactyly, Carpal bone aplasia OMIM:609428
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... OMIM:147750
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Ana... ORPHA:2310
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Multiple Synostoses Syndrome
Conductive hearing impairment, Cone-shaped epiphysis, Symphalangism affecting the phalanges of th... ORPHA:3237
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Hand oligodactyly, Abnormality of the ulna, Glossoptosis, Clinodactyl... ORPHA:3104
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Unilateral renal agenesis, Pachygyria, Vesicoureteral reflux, Ag... ORPHA:2512
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Hand oligodactyly OMIM:172880
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... OMIM:220150
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Coxa vara, Irregular, rachitic-like metaphyses, Enlarged joints, Sever... OMIM:184252
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Renal hypoplasia, Conductive hearing impairment, High palate, Cleft palate, Ab... ORPHA:1307
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Hirschsprung Disease
Nausea and vomiting, Aganglionic megacolon, Adducted thumb, Functional abnormality of the gastroi... ORPHA:388
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bilateral renal agenesis, Patent ductus arteriosus, Unilateral renal agenesis, ... OMIM:618845
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Polydactyly, Prominent metopic ridge, Hearing impairment, ... OMIM:617926
Crome Syndrome
Renal tubular epithelial necrosis, Microcephaly OMIM:218900
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Micrognathia, Renal cyst, Abnormality of the pinna, Syndactyly, Mesomelia, Hypo... OMIM:228940
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morph... ORPHA:294975
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Split-Hand/Foot Malformation 1
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... OMIM:183600
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity, Dislocate... OMIM:618395
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Hypoplasia of the radius, Rectal atre... OMIM:613390
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Leri-Weill Dyschondrosteosis
Abnormality of the carpal bones, Madelung deformity, Tibial bowing, Radial bowing, Abnormal metat... OMIM:127300
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Renal in... OMIM:615993
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Dysphagia, Cleft palate, Renal hypoplasia, Hydronephrosis, Renal agenesis, R... OMIM:618494
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Delayed ossification of carpal bones OMIM:617974
Split-Hand/Foot Malformation 3
Renal hypoplasia, High palate, Cleft palate, Abnormality of the pinna, Split hand, Camptodactyly,... OMIM:246560
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... OMIM:250420
Juberg-Hayward Syndrome
Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Craniosynostosis, Arachnodactyly, Humeroradial synostosis OMIM:614416
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Fanconi Anemia, Complementation Group U
Absent scaphoid OMIM:617247
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Proximal Symphalangism
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... ORPHA:3250
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Micrognathia, Renal agenesis, Hypoplasia of the radius, Syndactyly, Hypoplasia ... OMIM:212780
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... OMIM:102510
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Rectal atresia, Anal atresia, Hypoplasia of the radius, H... ORPHA:3016
Vacterl Association With Hydrocephalus
Renal hypoplasia, Radial club hand, Stillbirth, Anal atresia, Hydrocephalus, Absent thumb, Aquedu... OMIM:276950
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, High palate, Small epiphyses, Irregular carpal bones, Ivory epiphy... OMIM:226980
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus, Absent radius, Anal atresia OMIM:312190
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... OMIM:185900
Bardet-Biedl Syndrome 6
Hypospadias, Syndactyly, Renal cyst, Polydactyly OMIM:605231
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Genu v... OMIM:304950
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Short hum... OMIM:218600
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypo... OMIM:276820
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormal joint morphology, A... ORPHA:93351
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Microcephaly, Unilateral renal agenesis OMIM:601355
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... OMIM:184253
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Cerebral calcification, Red-... ORPHA:157
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Cleft palate, Absent tib... ORPHA:93322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Renal dysplasia, Renal cyst, Ureteral ... OMIM:236500
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Meier-Gorlin Syndrome 8
Renal hypoplasia, Micrognathia, Low-set ears, Microtia OMIM:617564
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow ext... ORPHA:457395
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Small epiphyses, Hypoplastic iliac wing, Tapered metacarpals, Cubitus valgus, Short phalanx of fi... OMIM:611717
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Micrognathia, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal p... ORPHA:2256
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Renal cyst OMIM:614870
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Vertebral fusion, Feeding difficulties, Renal cyst, Short 5th f... OMIM:615583
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Short middle phalanx of finger, Fused cervical vertebrae, Anal atresia ORPHA:1436
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Desmoid Tumor
Hydronephrosis, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhag... ORPHA:873
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Clinodactyly, Split hand, Decreased numbers of nephrons, Radial deviation of fi... OMIM:201310
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly OMIM:138790
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Vomiting, Neoplasm of the rectum, ... ORPHA:2869
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Anal atresia, Hydro... OMIM:314390
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux OMIM:605192
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Delayed ossification of carpal b... OMIM:607095
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Optic disc coloboma, Hearing impairment, Multicystic kidney dy... ORPHA:1475
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Rhizomelia, Low-set ears OMIM:617661
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapp... OMIM:201170
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Cerebral calcification, Red-... ORPHA:228308
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect, Anal atresia OMIM:119580
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Rhyns Syndrome
Abnormal acetabulum morphology, Small epiphyses, Nephronophthisis, Abnormality of long bone morph... ORPHA:140976
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Multiple Synostoses Syndrome 3
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... OMIM:612961
Symphalangism, Proximal, 1A
Tarsal synostosis, Conductive hearing impairment, Proximal symphalangism of hands, Short 5th meta... OMIM:185800
Abruzzo-Erickson Syndrome
Hypospadias, Conductive hearing impairment, Toe syndactyly, Cleft palate, Ulnar deviation of fing... ORPHA:921
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Bresek Syndrome
Renal hypoplasia, Aganglionic megacolon, Cleft palate, Renal dysplasia, Optic nerve hypoplasia, H... ORPHA:85284
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Genu valgum, Hypoplasia of penis, Anal atresia ORPHA:1381
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Say Syndrome
Cystic renal dysplasia, Micrognathia, Cleft palate, Tapered finger, Macrotia, Proximal renal tubu... OMIM:181180
Fanconi Anemia, Complementation Group R
Hydrocephalus, Anal atresia OMIM:617244
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Cenani-Lenz Syndrome
High, narrow palate, Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the ... ORPHA:3258
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Toe syndactyly, Renal agenesis, Micrognathia, Bowing of the long b... ORPHA:171839
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged interphalangeal joints, Genu recurvatum... OMIM:151200
Acropectorovertebral Dysplasia
Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... ORPHA:957
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:186400
Nephronophthisis 13
Renal hypoplasia, Polydactyly, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic... OMIM:614377
Burn-Mckeown Syndrome
Renal hypoplasia, Feeding difficulties in infancy, Cleft palate, Conductive hearing impairment, 2... OMIM:608572
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Anus, Imperforate
Hypospadias, Ectopic anus, Anal atresia OMIM:301800
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Nephropathy, Anal atresia ORPHA:2408
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, High palate, Overfolded helix, Abnormality of the pinna, Sensorine... ORPHA:3216
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Achondroplasia
Conductive hearing impairment, Genu varum, Bowing of the legs, Rhizomelia, Recurrent otitis media... OMIM:100800
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Arrhinencephaly, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormal... ORPHA:2538
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short middle phalanx of finger, Fused cervical vertebrae, Anal atresia OMIM:309620
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Branchial cyst, Abnormal nephron morphology, P... ORPHA:2260
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Micrognathia, High palate, Cleft palate, Renal agenesis, Toe synda... OMIM:277170
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Syndromic Recessive X-Linked Ichthyosis
Lissencephaly, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Hypertelorism-Microtia-Facial Clefting Syndrome
Horseshoe kidney, Conductive hearing impairment, Median cleft lip and palate, Crossed fused renal... ORPHA:2213
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Cleft palate, Abnormal vertebral segmentation and fusion, Cervical... OMIM:118100
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Anal ... OMIM:601389
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Micropenis, Unilateral renal agenesis, Lissencephaly, Microcephaly OMIM:618142
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Midshaft hypospadias, Wormian bones, Anal atresia, Camptodactyly of fi... ORPHA:2863
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Short thumb, Inte... OMIM:614326
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Talipes equinovarus, Short ribs, Micropenis, Fem... OMIM:613091
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb muscle hypop... OMIM:607323
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Abnormality of the autonomic nervo... OMIM:611376
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis ORPHA:3268
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, High palate, Cleft palate, Broad thumb, Small hand, Intesti... ORPHA:93259
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, High palate, Cleft palate, Polydactyly, Hypoplastic scapulae, Post... OMIM:614091
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Anal atresia ORPHA:3469
Phocomelia, Schinzel Type
Meningocele, High, narrow palate, Micrognathia, Cleft palate, Hand oligodactyly, Fibular aplasia,... ORPHA:2879
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Penoscrotal hypospadias, Swan neck-like deformities of the fingers, ... ORPHA:329252
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy, Microcephaly ORPHA:3033
Adams-Oliver Syndrome 6
Renal hypoplasia, Esophageal varix, Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 3rd toe, Oligodactyly, Clinodactyly of the 5th... ORPHA:521308
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Urinary incontinence, Hiatus hernia, Abnormality of pelvic girdle bone morpholog... OMIM:601162
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Ectopic anus, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:2476
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Conductive hearing impairment, Rocker bottom foot, Congenital hip dislocation, ... OMIM:133705
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Multicystic kidney dysplasia, Protruding ear, Radioulnar synostosis ORPHA:3270
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Syndactyly, Abnormality of the kidney, Brachydactyly OMIM:615982
Distal Monosomy 10P
Micrognathia, Cleft palate, Ectopic anus, Abnormality of the elbow, Anal atresia, Bilateral singl... ORPHA:1580
Pallister-Hall Syndrome
Cleft palate, Neonatal death, Microglossia, Distal shortening of limbs, Micropenis, Syndactyly, E... OMIM:146510
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Hearing impairment, Intestinal obstruction,... ORPHA:897
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, High palate, Feeding difficulties, Short foot, Micro... OMIM:248910
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, Postaxial polydactyly OMIM:600151
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the wris... ORPHA:2010
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, High palate, Cleft palate, Hand oligodactyly, Proximal radial head dislocation, Hyd... OMIM:602418
Schisis Association
Cleft palate, Anencephaly, Anal atresia, Spina bifida, Tracheoesophageal fistula, Micromelia ORPHA:63862
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Distal Monosomy 13Q
Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Anal atresia, Abnormality of the... ORPHA:1590
Joubert Syndrome 22
Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615665
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Conductive hearing impairment, Micrognathia, Abnormality of the pinna, Bilateral conductive heari... OMIM:128980
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Absent fronta... OMIM:311300
Pfeiffer Syndrome Type 3
Broad hallux phalanx, Toe syndactyly, High palate, Cleft palate, Horseshoe kidney, Hydronephrosis... ORPHA:93260
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Absen... OMIM:251230
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Horseshoe kidney, Renal hypoplasia, Optic nerve hypoplasia, Hypopl... OMIM:609053
Tenosynovial Giant Cell Tumor
Synovial hypertrophy, Conductive hearing impairment, Abnormal hip joint morphology, Abnormality o... ORPHA:66627
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Anal atresia, Spina bifida,... ORPHA:3169
Even-Plus Syndrome
Renal hypoplasia, High palate, Dysplasia of the femoral head, Epiphyseal dysplasia, Anal atresia,... OMIM:616854
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Feeding difficulties, Sensorineural hearing impairment, Vesicoureteral reflux, ... ORPHA:464288
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis, Stillbirth OMIM:274210
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Diaphyseal thickening, Optic atrophy, Stenosis of the external aud... ORPHA:1513
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Dysphagia, High palate, Feeding difficulties, Gastrostomy tube feeding... OMIM:617519
Isolated Klippel-Feil Syndrome
Cleft palate, Ectopic anus, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral ... ORPHA:2345
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Finger syndactyly, Anal atresia ORPHA:1997
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Wrist swelling, Metatarsal osteolysis, Ulnar deviation of the hand, Ulnar deviation... OMIM:166300
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Brachydactyly ORPHA:391646
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Ectopic anus, Aplasia/Hypoplasi... ORPHA:2549
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Feeding difficulties, Renal tubular acidosis, Renal dysplasia, Renal cyst, Hear... OMIM:614922
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Tal... OMIM:601382
Baller-Gerold Syndrome
Conductive hearing impairment, Hydronephrosis, High palate, Cleft palate, Abnormality of the uret... ORPHA:1225
Summitt Syndrome
Craniosynostosis, Syndactyly OMIM:272350
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Cat-Eye Syndrome
Hydronephrosis, Hip dysplasia, Anal atresia ORPHA:195
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... OMIM:614376
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ... OMIM:221300
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Duodenal atresia, Hypoplasia of the radius, Absent thumb, Abnormality of radial... OMIM:617784
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Horseshoe kidney, Conductive hearing impairment, Cone-shaped epiphysis, Congen... OMIM:157800
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Chopra-Amiel-Gordon Syndrome
Microcephaly, Unilateral renal agenesis OMIM:619504
Branchiootorenal Syndrome 1
Cleft palate, Dilatated internal auditory canal, Cholesteatoma, Renal dysplasia, Incomplete parti... OMIM:113650
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Genu varum, Cleft palate, Hypoplastic scapulae, Abdominal disten... ORPHA:85166
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Micrognathia, Atresia of the ext... OMIM:239800
Gordon Syndrome
Cleft palate, High palate, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi... ORPHA:376
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Secondary microcephaly, Abnormality of the kidney OMIM:613730
Emanuel Syndrome
Renal hypoplasia, Micrognathia, High palate, Cleft palate, Renal agenesis, Feeding difficulties, ... OMIM:609029
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hadziselimovic Syndrome
Renal hypoplasia, High palate, Posteriorly rotated ears, Anal atresia, Low-set ears OMIM:612946
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis, Decreased response to growth... OMIM:609757
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy ORPHA:1909
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Micrognathia, Cleft soft palate, Hearing impairment, Sensorineural... OMIM:616331
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Split hand OMIM:183800
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Patent ductus arteriosus, Unilateral renal agenesis OMIM:608406
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Hearing impairment, Intestinal obstruction, Gastrointes... ORPHA:97286
Congenital Hypothyroidism
Optic atrophy, Feeding difficulties in infancy, Macroglossia, Abnormality of epiphysis morphology... ORPHA:442
Rhombencephalosynapsis
Aganglionic megacolon, Polydactyly, Short phalanx of finger, Esophageal atresia, Anal atresia, Fi... ORPHA:59315
Meckel Syndrome 12
Renal hypoplasia, Micrognathia, Renal agenesis, Rocker bottom foot, Bifid uvula, Ureteral hypopla... OMIM:616258
Cutis Laxa, Autosomal Dominant 3
Microcephaly, Unilateral renal agenesis OMIM:616603
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Cleft palate, Split hand, Split foot OMIM:183700
Feingold Syndrome Type 1
2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Renal dysplasia, Conductive... ORPHA:391641
Ivic Syndrome
Triphalangeal thumb, Rectovaginal fistula, Aplastic clavicle, Synostosis of carpal bones, Hypopla... ORPHA:2307
Juberg-Hayward Syndrome
Hypospadias, Toe syndactyly, Horseshoe kidney, Abnormality of the elbow, Hammertoe, Hypoplasia of... ORPHA:2319
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia OMIM:617914
Cloacal Exstrophy
Horseshoe kidney, Myelomeningocele, Talipes equinovarus, Hypoplasia of penis, Hydroureter, Absent... ORPHA:93929
Infantile Myofibromatosis
Abnormal intestine morphology, Chondrocalcinosis, Abnormality of the metaphysis, Intestinal obstr... ORPHA:2591
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Death in infancy, Proximal tubulopathy, Patent ductus arteriosus, Uni... OMIM:614576
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Broad thumb, Joint... OMIM:113000
Townes-Brocks Syndrome 1
Hypospadias, 2-3 toe syndactyly, Triphalangeal thumb, Duodenal atresia, Renal dysplasia, Short me... OMIM:107480
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, High palate, Hydronephrosis, Optic atrophy, Micrognathia, Congenital... OMIM:617913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Conductive hearing impairment, Polydactyly, Hypoplastic ischia, Low-set ears OMIM:616910
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Craniosynostosis, Finger syndactyly, Hydroceph... ORPHA:380
Distal Trisomy 15Q
Micrognathia, High palate, Arachnodactyly, Anal atresia, Camptodactyly of finger ORPHA:1707
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Cleft palate, Esophageal atresia, Anal atresia, Micropenis, Tracheoesophageal f... OMIM:614083
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Hearing impairment, Synostosis of joints, Brachydactyly, Abnormality of ... ORPHA:2496
Ritscher-Schinzel Syndrome 1
Hypospadias, Micrognathia, Cleft palate, Hydronephrosis, Missing ribs, Anal atresia, Syndactyly, ... OMIM:220210
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Multiple Osteochondromas
Short lower limbs, Abnormality of the knee, Abnormal lower limb bone morphology, Femoroacetabular... ORPHA:321
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Conductive hearing impairment, Duodenal atresia, Pelvic kidney, Hypoplasia of t... OMIM:603467
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Anal atresia, Absent radius, Aplasia of the 1st metacarpal, Vesicoureteral reflux, ... OMIM:600123
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Fanconi Anemia, Complementation Group D1
Short thumb, Anal atresia OMIM:605724
Auriculocondylar Syndrome 3
Question mark ear, Micrognathia, Bifid uvula, Glossoptosis, Bilateral conductive hearing impairme... OMIM:615706
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ... ORPHA:99772
Van Maldergem Syndrome 1
Hypospadias, Renal hypoplasia, Conductive hearing impairment, High palate, Cutaneous finger synda... OMIM:601390
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Micrognathia,... ORPHA:3082
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ectopic anus, Hypoplasia of penis, Aplasia/Hypoplasia of the ... ORPHA:3138
Simpson-Golabi-Behmel Syndrome, Type 2
Broad palm, High palate, Cleft palate, Talipes equinovarus, Tapered finger, Short finger, Posteri... OMIM:300209
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Unil... OMIM:308750
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Unilateral renal agenesis ORPHA:3306
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of fi... OMIM:132450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Abnormality of femur morphology, Abnormality of the knee, Abnormality of the upper ... ORPHA:2063
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Micrognathia, High palate, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:989
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Enlarged joints, Cutaneous s... ORPHA:166024
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Familial Expansile Osteolysis
Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones OMIM:174810
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Mucolipidosis Ii Alpha/Beta
Hypoplasia of the odontoid process, Mucopolysacchariduria, Talipes equinovarus, Hypoplastic scapu... OMIM:252500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Micrognathia, Macrotia, Hearing impairment, Sensorineural hearing impairment, D... OMIM:616817
Cornelia De Lange Syndrome 1
Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Single transverse palmar crease,... OMIM:122470
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Otofaciocervical Syndrome
Conductive hearing impairment, High palate, Macrotia, Renal hypoplasia/aplasia, Down-sloping shou... ORPHA:2792
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus, Anal atresia OMIM:222748
Meckel Syndrome, Type 10
Hypospadias, Cleft palate, Postaxial polydactyly, Renal cyst, Abnormality of the pinna, Micropenis OMIM:614175
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Micrognathia, Sandal gap, Joint contracture of the 4th fing... OMIM:618914
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Disharmonious carpal bone, Genu valgum, Sensorineural hearing impairment, Slender... OMIM:608154
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Hydronephrosis, Myelomeningocele, Split hand, Hydrocephalus, Uretera... OMIM:183802
Bnar Syndrome
Anteriorly placed anus, Anal stenosis, Abnormality of the 5th toe ORPHA:217266
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Anal atresia, Absent radius, Aplasia of the 1st me... ORPHA:1352
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplasia of the bladder, Dysur... ORPHA:79404
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Distal Trisomy 6P
Renal hypoplasia, Hydronephrosis, Micrognathia, Abnormal antitragus morphology, Abnormality of th... ORPHA:1745
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Feeding difficulties in infancy, Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Van Maldergem Syndrome 2
Hypospadias, Renal hypoplasia, Conductive hearing impairment, High palate, Cutaneous finger synda... OMIM:615546
Sanjad-Sakati Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Small hand, Intestinal obstruction, Short foot, ... ORPHA:2323
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Short hallux, Sandal gap, Bilateral conductive hearing impairment OMIM:216300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Dysplastic corpus callosum, Patent ductus arteriosus, Recurrent ur... ORPHA:363444
Rhyns Syndrome
Conductive hearing impairment, Radial bowing, Nephronophthisis, Chronic kidney disease, Short fem... OMIM:602152
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... OMIM:137920
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ... ORPHA:31826
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Clinodactyly of the 5th finger, Atresia of t... OMIM:221320
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Radial club hand, Abnormal antitragus morphology, Aplasia/Hypoplas... ORPHA:2878
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Epiphyseal dysplasia, Dislocated radial head, Anal atresia, Brachydactyly,... OMIM:617425
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Anteverted ears, Renal dysplasia, Hearing impairment, Micropenis, Absence of renal corticomedulla... OMIM:617641
Marden-Walker Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Cleft palate, Renal hypoplasia, ... OMIM:248700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Posteriorly rotated ears, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Summitt Syndrome
Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Prominent ... ORPHA:3210
Mckusick-Kaufman Syndrome
Tarsal synostosis, Hydronephrosis, High palate, Cleft palate, Ectopic anus, Aganglionic megacolon... ORPHA:2473
Anus, Imperforate
Anal atresia OMIM:207500
Deafness And Myopia
Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria OMIM:221200
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
15Q24 Microdeletion Syndrome
Hypospadias, Myelomeningocele, Small hand, Proximal placement of thumb, Abnormality of toe, Anal ... ORPHA:94065
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
Axial Mesodermal Dysplasia Spectrum
Abnormal intestine morphology, Micrognathia, Abnormality of the ureter, Abnormality of the knee, ... ORPHA:1834
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd... OMIM:171480
Frontometaphyseal Dysplasia
Cleft palate, Short metatarsal, Joint contracture of the hand, Hearing impairment, Progressive bo... ORPHA:1826
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Anal atresia, Cervical spina bifida, S... ORPHA:63260
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Femoral-Facial Syndrome
Micrognathia, Cleft palate, Long penis, Talipes equinovarus, Abnormality of pelvic girdle bone mo... ORPHA:1988
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Cat-Eye Syndrome (Type I)
Micrognathia, Anal atresia DECIPHER:42
Ophthalmomandibulomelic Dysplasia
Aplasia/Hypoplasia of the radius, Symphalangism affecting the phalanges of the hand, Radioulnar d... ORPHA:2741
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Cleft palate, Triphalangeal thumb, Ectopic anus, Arachnodactyly, Finger syndactyly, Short distal ... ORPHA:2994
Otopalatodigital Syndrome Type 1
Cleft palate, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of ... ORPHA:90650
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Coach Syndrome 1
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... OMIM:216360
Emanuel Syndrome
Renal hypoplasia, Dysphagia, High palate, Cleft palate, Ectopic anus, Micrognathia, Feeding diffi... ORPHA:96170
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Abdominal distention, Gastrointestinal hemorrhage, Multiple rena... ORPHA:2924
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Prune Belly Syndrome
Abnormality of the ureter, Talipes equinovarus, Congenital posterior urethral valve, Hydroureter,... ORPHA:2970
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abnormal intestine morphology, Vomiting, Malabsorption, Clubbing, Intestinal obstruction, Clubbin... OMIM:226300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, High palate, Cleft palate, Microretrognathia, Knee dislocation, Small epiphyses, He... OMIM:618363
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Cleft palate, Renal cyst, Low-set ears OMIM:231060
Caudal Regression Sequence
Arrhinencephaly, Abnormality of the ureter, Ureteral duplication, Talipes equinovarus, Abnormal v... ORPHA:3027
Bor Syndrome
Enlarged cochlear aqueduct, Hydronephrosis, Cleft palate, Hypoplasia of the cochlea, Facial palsy... ORPHA:107
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Talipes equinovarus, Congenital posterior urethral valve, Xerosto... OMIM:100100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Microcephaly ORPHA:1046
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Micrognathia, Renal dysplasia, Sensorineural hearing impairment, Low-set ears, ... ORPHA:85321
Waardenburg Syndrome
Conductive hearing impairment, Aganglionic megacolon, Myelomeningocele, Hearing impairment, Intes... ORPHA:3440
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Unil... OMIM:308700
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Toe syndactyly, Congenital stapes ankylosis, Fused cervical verteb... OMIM:184460
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short... OMIM:609616
Nephronophthisis 16
Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl... OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Cleft palate, Bifid uvula, Absence of the sacrum, Sensorineural hearing impairm... OMIM:617660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Focal segmental glomerulosclerosis, Renal cyst, Nephropathy OMIM:617056
Meier-Gorlin Syndrome 7
Hypospadias, 2-3 toe syndactyly, High palate, Cleft palate, Aplasia/Hypoplasia of the patella, Du... OMIM:617063
3C Syndrome
Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Hydronephrosis, Ectopic anus, Hypop... ORPHA:7
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Abdominal distention, Cutaneous syndactyly OMIM:617666
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Hypoplasia of the bladder, Unilateral renal agenesis, Protruding ear, Mic... OMIM:614527
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Carpenter Syndrome 1
Genu varum, Hydroureter, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Curry-Jones Syndrome
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Intestinal malrotation, Anal stenosis... OMIM:601707
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Sclerosteosis
Curved distal phalanges of the hand, 2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Cleft palate, Abnormality of the outer ear, Microtia OMIM:248390
Renpenning Syndrome
Hypospadias, High, narrow palate, Cleft palate, Anal atresia, Abnormal thumb morphology, Clinodac... ORPHA:3242
Cerebrofacioarticular Syndrome
Hypospadias, Renal hypoplasia, Feeding difficulties in infancy, Conductive hearing impairment, Mi... ORPHA:314679
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, Lissencephaly, Renal cyst, Multiple renal cysts OMIM:614883
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... OMIM:184260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Cleft palate, Postaxial polydactyly, Rhizomelia, Renal cyst, Macrotia, Short ri... OMIM:616300
Cardiospondylocarpofacial Syndrome
High, narrow palate, Conductive hearing impairment, Synostosis of carpal bones, Short palm, Brach... ORPHA:3238
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... OMIM:618419
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Seckel Syndrome 7
Abnormality of the carpal bones, Hip dysplasia, Clinodactyly, Madelung deformity OMIM:614851
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Cone-shaped epiphysis, Macroglossia, Nephronophthisis, Renal dysplasia, Craniosynost... OMIM:266920
Oculocerebrodental Syndrome
Conductive hearing impairment, Metaphyseal dysplasia, Nephrocalcinosis, Short 5th finger, Hearing... ORPHA:557003
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Hypospadias, Micrognathia, High palate, Penoscrotal transposition, Anencephaly,... OMIM:619148
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Leukoencephalopathy, Renal cyst, Nephropathy, Renal insufficiency OMIM:611773
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Arrhinencephaly, Pelvic kidney, Polymicrogyria, Porence... OMIM:156810
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis, Hypoplasia of the corpu... OMIM:308205
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Microcephaly, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux, Cerebral cor... ORPHA:1166
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... ORPHA:3329
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulnar hypoplasia, Bilatera... OMIM:608571
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Neonatal death, Polycys... OMIM:263200
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Craniosynostosis, Finger syndactyly, Genu valgu... ORPHA:65759
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Dysphagia, Tubulointerstitial nephritis, Hematuria, Malabsorption, Arthritis... ORPHA:183
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Ectopic... ORPHA:887
Acrocardiofacial Syndrome
Hypospadias, Hallux valgus, Toe syndactyly, Cleft palate, Joint dislocation, Finger syndactyly, F... ORPHA:2008
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Cutaneous finger syndactyly, Long fingers, Arachnodactyly, Clinoda... OMIM:602249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Anencephaly, Renal dysplasia, Renal cyst, Micropenis, Type II lissencephaly, Cort... OMIM:615287
Familial Mediterranean Fever
Nausea and vomiting, Gastrointestinal infarctions, Nephrotic syndrome, Peritonitis, Nephrocalcino... ORPHA:342
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Complete duplication of thumb p... OMIM:141400
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... OMIM:300244
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Endove Syndrome, Limb-Only Type
Hydronephrosis, Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 f... OMIM:619217
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Micrognathia, High palate, Talipes equinovarus, Hypoplastic scapul... OMIM:602471
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Intestinal pseudo-obstruction, Fetal megacystis, Arachnodactyly, Finger syndactyl... ORPHA:73246
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Cleft palate, Hand oligodactyly, Talipes equinovarus, Tibial bowing,... OMIM:206920
Joubert Syndrome 20
Syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Feeding difficulties, Renal cyst, P... OMIM:618454
Distal Monosomy 10Q
Cleft palate, Short metatarsal, Enuresis, Prominent fingertip pads, Micrognathia, High palate, An... ORPHA:96148
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnorm... ORPHA:1788
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Burkitt Lymphoma
Intestinal obstruction, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain ORPHA:543
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Aplasia/Hypoplasia of the radius, Intestinal malrotation, Anal atresia, Displacem... ORPHA:2973
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Flat capital femoral epiphysis, Abnormal metatarsal morphology,... ORPHA:93360
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Rubinstein-Taybi Syndrome 2
Micrognathia, High palate, Intestinal malrotation, Narrow palate, Syndactyly, Broad hallux, Broad... OMIM:613684
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Short phalanx of finger, Lower limb undergrowth, Delayed ossification of carpa... OMIM:127200
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Conductive hearing impairment, Hallux valgus, Progressive cervical vertebral ... OMIM:135100