Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wntless WNT ligand secretion mediator
Synonyms:
Gpr177,  5031439A09Rik

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 Wls 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 Wls by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Micrognathia, Long fingers, Ectrodactyly, Broad di... OMIM:619648

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Acrorenal Syndrome
Abnormal renal morphology, Hand oligodactyly OMIM:102520
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger OMIM:176305
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Adactylia, Unilateral
Short thumb, Adactyly OMIM:102650
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Micrognathia, Adactyly, Split hand, Aplasia/H... ORPHA:989
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... OMIM:613390
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... OMIM:618435
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ... ORPHA:337
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormality... OMIM:276950
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia OMIM:172880
Hypoglossia-Hypodactylia
Adactyly, Split hand, Micrognathia OMIM:103300
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, Spina b... ORPHA:2437
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Recurrent urinary tract infecti... ORPHA:2438
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... OMIM:602200
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy, Camptodactyly of finger OMIM:247990
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly, Hydronephrosis ORPHA:251046
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... OMIM:301900
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly, Scoliosis, Amelia OMIM:601357
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip dislocation, Patellar... ORPHA:1326
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Urethral... OMIM:314390
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Agenesis of corpus ca... OMIM:617127
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligoda... ORPHA:1788
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... OMIM:140000
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Clinodactyly of the ... OMIM:201000
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif... OMIM:607323
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... OMIM:206920
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu ... OMIM:614078
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... OMIM:619218
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... ORPHA:3258
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia ORPHA:2513
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Hydroce... ORPHA:1926
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... OMIM:615996
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Missing ribs, Short neck, Micrognathia, Hydrocephalus, Renal hypoplasia/... ORPHA:1834
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Intellectual Developmental Disorder, Autosomal Recessive 79
Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender finger OMIM:620393
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Myelomeningocele, Hydronephr... OMIM:620141
Keipert Syndrome
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... ORPHA:2662
Maxillonasal Dysplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis... ORPHA:1248
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Horseshoe kidney, Camptodactyly... OMIM:614846
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... OMIM:619797
Pierpont Syndrome
Short neck, Short toe, Broad palm, Micropenis, Short foot, Deep plantar creases, Deep palmar crea... OMIM:602342
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplas... ORPHA:3082
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Hypoplasia o... ORPHA:887
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Hydronephrosis, Micromelia ORPHA:85173
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Holoprosencephaly, Neonatal death, Micropenis, Distal ... OMIM:146510
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... OMIM:239850
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Micro... ORPHA:363417
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93260
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Vertebral segmenta... OMIM:611209
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d... ORPHA:1327
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, F... ORPHA:261318
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna... ORPHA:959
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t... OMIM:300244
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... OMIM:274000
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
Cat-Eye Syndrome
Hip dysplasia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:85285
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
8P23.1 Duplication Syndrome
Toe syndactyly, Hydronephrosis ORPHA:251076
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ... OMIM:106995
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Scoliosis, Micrognathia OMIM:618578
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Missing ribs, Micrognathia, Hydrocephalus, Hemivertebrae, Hydronephrosis OMIM:220210
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent t... ORPHA:974
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... OMIM:268310
Melnick-Needles Syndrome
Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the... ORPHA:2484
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Flare... OMIM:607095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... OMIM:154400
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
3C Syndrome
Finger syndactyly, Death in infancy, Hypoplasia of penis, Hypospadias, Missing ribs, Micrognathia... ORPHA:7
Pierpont Syndrome
Pes planus, Short neck, Short toe, Abnormality of the plantar skin of foot, Deep palmar crease, S... ORPHA:487825
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... OMIM:619762
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Vesicoureteral reflux, Short foot, Hydroneph... ORPHA:250989
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... ORPHA:261344
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Umbilical hernia, Scoliosis... OMIM:104350
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Trisomy 17P
Hypoplasia of penis, Urethral valve, Talipes, Tapered finger, Short neck, Micrognathia, Hydroceph... ORPHA:261290
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of kidney, Uln... ORPHA:921
Roifman Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Eo... OMIM:616651
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morphology, Renal... OMIM:609053
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Micrognathia, Kyphosis, Hydrocephalus, Dilatation of t... ORPHA:314588
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Micrognathia, Long fingers, Short toe, ... OMIM:618659
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Micrognathia, Long fingers, Ectrodactyly, Broad di... OMIM:619648
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Short ribs, Hypopla... OMIM:173800
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Micrognathia, Elbow dislocation, Camptodacty... ORPHA:99776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Micrognathia, Short neck,... OMIM:616897
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi... OMIM:611717
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Abn... ORPHA:2461
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Scoliosis, Pelvic kidney, Radial dysplasia OMIM:617244
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
15Q Overgrowth Syndrome
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnoda... ORPHA:314585
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Recombinant Chromosome 8 Syndrome
Micrognathia, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the ... OMIM:179613
Pde4D Haploinsufficiency Syndrome
Pes planus, Short metacarpal, Broad hallux, Hypospadias, Micrognathia, Short toe, Short metatarsa... ORPHA:439822
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Rocker bottom foot, Coxa valga, Talipes equinovalgus, ... OMIM:301056
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta, Hydronephrosis OMIM:618060
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 3rd toe, Short 2nd toe, Short 5th finger, Short 4th toe, Short 5th toe OMIM:619060
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Roifman Syndrome
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bodies, Eosinophilia, De... ORPHA:353298
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology, Pes... ORPHA:3224
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Hydroureter, Hydronephrosis OMIM:618240
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... ORPHA:392
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly OMIM:616589
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Scoliosis, Prominent... OMIM:618494
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Hydronephrosis, Unilateral renal agenesis, Micrognathia OMIM:609757
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Micrognathia, Sh... ORPHA:391641
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... OMIM:601957
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop... OMIM:614900
Vater/Vacterl Association
Renal dysplasia, Syndactyly, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, ... OMIM:192350
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
Distal Duplication 6P
Sacral dimple, Short neck, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Hyd... ORPHA:1745
9Q21.13 Microdeletion Syndrome
Talipes, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Hydronephrosis ORPHA:531151
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... ORPHA:264450
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Fanconi Anemia, Complementation Group B
Death in infancy, Renal agenesis, Short neck, Absent thumb, Hydrocephalus, Bilateral radial aplas... OMIM:300514
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb OMIM:179280
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Spina bifida, S... ORPHA:2092
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormality of the ureter, Abnormal pelvic girdle bone morp... ORPHA:3378
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Small hand, Spina bifida occulta, Horseshoe kidney, Short... OMIM:235510
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th... ORPHA:1225
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Talipes, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1234
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, 4-5 toe ... OMIM:300707
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... OMIM:302960
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Kyphosis, Devia... ORPHA:464738
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Short n... ORPHA:2083
Melnick-Needles Syndrome
Pes planus, Short humerus, Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoraci... OMIM:309350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Ureteral duplication, Renal insufficiency, Tapered toe, Renal dysplas... OMIM:608836
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... OMIM:311900
Jacobsen Syndrome
Pes planus, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Talipes, Spina bifida, Missi... ORPHA:2308
Mosaic Trisomy 8
Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Vesicoureteral reflux, Deep ... ORPHA:96061
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Hydrocephalus, Anencephaly, Broa... OMIM:269860
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv... ORPHA:79345
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Congenital hip dislocation... OMIM:258040
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... OMIM:618161
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... OMIM:602849
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the... ORPHA:1507
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm... ORPHA:373
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Renal hypopl... ORPHA:568
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Mic... DECIPHER:81
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli... OMIM:305600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Temtamy Syndrome
Pes planus, Brachydactyly, Micrognathia, Short toe, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Patellar aplasia, ... ORPHA:85201
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hypospadias, Absent thumb, Micrognathia, Short thumb, 2-3 to... OMIM:617516
Joubert Syndrome 37
Micropenis, Lumbar hyperlordosis, Hydronephrosis, Postaxial polydactyly OMIM:619185
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet... ORPHA:35173
Stromme Syndrome
Micrognathia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydactyly, Stillbirth, Agenes... OMIM:243605
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger synda... OMIM:107480
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... OMIM:101200
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Abnorma... ORPHA:93929
Suleiman-El-Hattab Syndrome
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Hydronephrosis, Br... OMIM:618950
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, Hypospadias, Abnormal... ORPHA:235
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis... ORPHA:1780
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Partial agenesis of the corpus callosu... ORPHA:420794
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly ORPHA:3085
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... ORPHA:107
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida occulta, Sh... OMIM:617877
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Abnormal pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical... ORPHA:3079
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, ... OMIM:301040
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Micrognathia, Short toe, Hydrocephalus, Cutaneous... OMIM:617667
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Dysplastic corpus callosum, Split hand, Intrinsic han... OMIM:618569
Hajdu-Cheney Syndrome
Brachydactyly, Bowing of the long bones, Hypospadias, Micrognathia, Absent frontal sinuses, Hypop... ORPHA:955
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Arachnodactyly, Hypospadias, Kyphosis, Hip dislocation, V... ORPHA:96169
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Talipes equinovarus... OMIM:100100
Camptobrachydactyly
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... OMIM:617247
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyl... OMIM:619269
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Tetrasomy 5P
Overlapping toe, Short hallux, Micrognathia, Short neck, Long fingers, Hydrocephalus, Talipes equ... ORPHA:3309
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agen... OMIM:270400
Tetraploidy
Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis, Micrognathia ORPHA:3305
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... ORPHA:857
Au-Kline Syndrome
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Lipom... OMIM:616580
Martsolf Syndrome 1
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Metatarsus ... OMIM:212720
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Preaxial hand polydact... OMIM:227646
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti... OMIM:613684
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Micrognathia, Short neck, Long fingers, Positional foot deformity, Hip... ORPHA:96092
Rapadilino Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Absent thumb OMIM:266280
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Pes planus, Recurrent urinary tract infections, Genu recurvatum, Tapered finger, Short 3rd toe, S... OMIM:618707
Raine Syndrome
Death in infancy, Bowing of the long bones, Hydroureter, Micromelia, Micrognathia, Short neck, Hy... OMIM:259775
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Absent Achilles reflex,... ORPHA:268810
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Urethral atresia, Sho... OMIM:271520
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Neurogenic bladder, Myelomeningocele,... OMIM:600145
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Single transverse palmar crease, Kyphosis, 2-3 toe syndactyly, Scoliosis, Agenesis o... OMIM:616449
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Postaxial polydactyly, Lower limb asymmetry, Tapered finger, Small hand, Hip dislo... OMIM:300968
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Short foot, Radioulnar synostosis, ... OMIM:257920
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Mic... OMIM:612513
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Lower limb asymmetry, Renal hypoplasia, Spinal dysraphism, Scoliosis, N... OMIM:612918
2P15P16.1 Microdeletion Syndrome
Pes planus, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Me... ORPHA:261349
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg... OMIM:263750
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Cervical kyphosis, Decreased palmar creases, Tapered finger, Kyphoscoliosis, F... ORPHA:2953
22Q11.2 Duplication Syndrome
Micrognathia, Urethral stenosis, Scoliosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
X-Linked Intellectual Disability Due To Gria3 Mutations
Pes planus, Genu recurvatum, Kyphosis, Scoliosis, Micropenis, Hydronephrosis ORPHA:364028
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... ORPHA:2473
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Hypospadias, Rocker bottom foot, H... ORPHA:163979
Trisomy 18
Microretrognathia, Camptodactyly of finger, Spina bifida, Abnormality of the upper urinary tract,... ORPHA:3380
Wiedemann-Steiner Syndrome
Pes planus, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal interphalangea... OMIM:605130
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Toluene Embryopathy
Tapered finger, Hydronephrosis, Abnormal localization of kidney, Micrognathia ORPHA:1920
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgu... ORPHA:818
Hydrolethalus Syndrome 1
Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Short neck, Hydrocephalus, Short 2nd toe, Hip dysplasia, Clinodact... OMIM:612582
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo... ORPHA:2636
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Oculodentodigital Dysplasia
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Camptodactyly of finger, Short hallux, Apl... ORPHA:2710
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Kyphosis, Hypotrophy of the ... OMIM:610443
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Short distal phalanx of finger, Bilateral triphalangeal thumbs, Micr... OMIM:619356
Carey-Fineman-Ziter Syndrome
Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of f... ORPHA:1358
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Tapered finger, Unilateral renal agenesis, Kyphosis, Shor... ORPHA:464311
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Agenesis of corpus callosum, Renal hypoplasia, Hydronephrosis OMIM:613735
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Large placenta, Camptodactyly, Umbili... ORPHA:254528
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Short finger, Low urinary cyclic AMP r... OMIM:103580
Neurooculorenal Syndrome
Hypoplasia of the bladder, Short hallux, Micrognathia, Aqueductal stenosis, Unilateral renal agen... OMIM:620305
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... OMIM:616737
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock... OMIM:272950
Laron Syndrome
Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow, Brachydactyly ORPHA:633
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Agenesis of corpus callosum, Hydronephrosis OMIM:613001
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Renal agenesis, Myelo... ORPHA:63259
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Micrognathia, Long fingers, Lateral ventricle dilatation, Patellar dis... OMIM:617557
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Short hallux OMIM:216300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Mi... OMIM:214100
Thumb Agenesis, Short Stature, And Immunodeficiency
Absent thumb OMIM:274190
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Scoliosis... ORPHA:261494
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Short neck, Micrognathia, Vesicoureteral reflux, Clino... ORPHA:2059
Fryns Syndrome
Microretrognathia, Ureteral duplication, Hypospadias, Single transverse palmar crease, Proximal p... OMIM:229850
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Structural... ORPHA:464306
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Postaxial polydactyly, Micrognathia, Renal hypoplasia, Renal... OMIM:618460
Orofaciodigital Syndrome Type 1
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... ORPHA:2750
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Renal hypoplasia, Absent thumb OMIM:617784
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Fanconi Anemia, Complementation Group P
Absent thumb, Micrognathia, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney OMIM:613951
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly OMIM:600430
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec... OMIM:122470
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hydronephrosis, Scoliosis OMIM:619179
Micro Syndrome
Hypoplasia of penis, Micrognathia, Kyphosis, Abnormal localization of kidney, Scoliosis, Hydronep... ORPHA:2510
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Hydronephrosis OMIM:222300
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Noonan Syndrome 4
Ureteral duplication, Short neck, Scoliosis, Cubitus valgus, Hydronephrosis OMIM:610733
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Renal cyst, Tibial bowing, Micropenis, Hypospadias, Scoliosis, Umbilica... ORPHA:798
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short neck, Micrognathia, Short toe, Talipes equinovarus ORPHA:98791
Hyperphosphatasia-Intellectual Disability Syndrome
Short neck, Micrognathia, Shortening of all distal phalanges of the fingers, Hip dysplasia, Scoli... ORPHA:247262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Multicystic kidney dyspla... OMIM:615287
Distal Deletion 12Q
Broad hallux, Single transverse palmar crease, Overlapping toe, Micrognathia, Short neck, Kyphosc... ORPHA:96149
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Vesi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Vesi... ORPHA:363958
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
Temtamy Syndrome
Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Agenesis of corpus... OMIM:218340
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Hydronephrosis ORPHA:449400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, 2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, ... OMIM:618454
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Kyphoscoliosis... ORPHA:97360
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Short neck, Micrognathia, Postaxial hand polydactyly, Micropenis, Hydronephrosis OMIM:235255
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, Nephronophthisis, C... OMIM:266920
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p... ORPHA:2886
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Micrognathia, Epiphyseal stippling, ... ORPHA:912
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Dysuria, Pedal edema, Renovascular hypertension, Unilateral r... ORPHA:49041
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Micrognathia OMIM:607598
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, Short palm, Micropenis, Duplication of the distal phalanx of hand, Rena... OMIM:180700
Craniofacioskeletal Syndrome
Pes planus, Hypospadias, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short... OMIM:300712
Fanconi Anemia, Complementation Group F
Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal ... OMIM:603467
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Recurrent urinary tract infections, Abnormality of the kid... ORPHA:847
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Pes cavus, Hydroureter, Proportionate shortening of all digits, Abnormal renal... ORPHA:280633
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Cubitus valgus, Short neck, Hydrocephalus,... OMIM:115150
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Neurogenic bladder, Short neck, Micrognathia, Overlapping fingers, Hydronephros... OMIM:608779
Bohring-Opitz Syndrome
Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Microgn... OMIM:605039
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Short n... OMIM:614083
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Abnormal f... ORPHA:101000
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc... OMIM:618975
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... ORPHA:2920
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Single transverse pa... OMIM:269150
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Agenesis of ... OMIM:312870
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube defect ORPHA:79321
Coffin-Siris Syndrome 1
Single transverse palmar crease, Ectopic kidney, Partial agenesis of the corpus callosum, Promine... OMIM:135900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Micrognathia, Bladder trabeculation, ... OMIM:614080
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe ORPHA:2229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Hydrocephalus, Short toe, Abnormal renal morphology, Delayed ossification of carp... OMIM:239300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:192445
7Q11.23 Microduplication Syndrome
Pes planus, Sacral dimple, Hypospadias, Single transverse palmar crease, Unilateral renal agenesi... ORPHA:96121
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Hypospadias, Short hallux, Micrognathia, ... ORPHA:280
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ... OMIM:227650
Diphallia
Ureteral duplication, Renal malrotation, Renal duplication, Hypospadias, Distal urethral duplicat... ORPHA:227
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Hydrocephalus, Genu valgum, Deep palmar crease, Palmopla... ORPHA:1340
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Scoliosis, Vesicoureteral reflux, Micropenis... OMIM:618653
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Hypo... OMIM:180849
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k... OMIM:227645
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Tapered finger, Short toe, Abnormal hip bone morphology, Broad foot, Camptod... ORPHA:127
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Micrognathia, Prox... OMIM:261540
Occipital Horn Syndrome
Pes planus, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis, G... OMIM:304150
Diamond-Blackfan Anemia 1
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ... OMIM:105650
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... OMIM:620072
Osteogenesis Imperfecta, Type Vii
Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Mic... OMIM:610682
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ... OMIM:600901
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Microphthalmia, Syndromic 9
Renal malrotation, Micrognathia, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidne... OMIM:601186
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... OMIM:268300
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short m... ORPHA:2044
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Talipes, Hip dysplasia, Branchial anomaly, Vertebral segmentation defect, Scoliosis, Vesicoureter... ORPHA:453499
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme... ORPHA:1896
Chime Syndrome
Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Hydronephrosis, Brachydactyly ORPHA:457193
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract, Short neck, Mi... ORPHA:2995
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Single transverse palmar crease, Tapered finger, Micrognathia, Short neck... ORPHA:444072
Johanson-Blizzard Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Doors Syndrome
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the ph... ORPHA:79500
Tetrasomy 9P
Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Recurr... ORPHA:3310
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Micrognathia, Postaxial hand polydactyly, Abnormal renal morphology, Micropenis, Hydr... ORPHA:1655
Cat Eye Syndrome
Renal agenesis, Micrognathia, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Umbilical h... OMIM:115470
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Agenesis of... OMIM:194190
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Peters Plus Syndrome
Ureteral duplication, Sacral dimple, Toe syndactyly, Rhizomelia, Renal duplication, Micromelia, M... ORPHA:709
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypoplastic sacrum, Hydroureter, R... OMIM:604292
Alg9-Cdg
Microretrognathia, Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomelia, Ureteral h... ORPHA:79328
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p... OMIM:236700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split... OMIM:129900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Broad toe, Hypospadias, Single transverse palmar crease, Urinary incontinence... OMIM:619522
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Proteinuria, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polyd... OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Short femur, Hydronephrosis, Genu valgum OMIM:617798
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Sandal gap, Single transverse palmar crease, Micrognathia, Multiple bladder div... OMIM:613177
Omenn Syndrome
Nephrotic syndrome, Short toe, Abnormal metaphysis morphology, Eosinophilia ORPHA:39041
Webb-Dattani Syndrome
Neurogenic bladder, Hip dislocation, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Absent thumb, Micrognathia, Hypoplasia of the radius, Brachy... ORPHA:96097
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Short toe, Umbilical hernia, Kyphoscoliosis ORPHA:404443
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Long foot, Broad 2nd toe, Palmo... OMIM:280000
Nablus Mask-Like Facial Syndrome
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Micropenis... OMIM:608156
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t... ORPHA:1292
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Urethrovaginal fistula, Preaxial hand polydactyly,... ORPHA:93271
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis, Micrognathia OMIM:154230
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Congenital hip dislocation, Micr... OMIM:147920
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Micrognathia, Absent... ORPHA:2363
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Drumstick terminal phalanges ORPHA:541423
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Postaxial polydactyly, Hip dysplasia, Vertebral segmentation defect, Branchial anomal... ORPHA:453504
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Shor... OMIM:616145
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Postaxial polydactyly, Hip dysplasia, Vertebral segmentation defect, Branchial anomal... ORPHA:352665
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... ORPHA:487796
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... OMIM:263650
3Q29 Microdeletion Syndrome
Hypospadias, Tapered finger, Horseshoe kidney, Six lumbar vertebrae, Clinodactyly of the 5th finger ORPHA:65286
Opitz Gbbb Syndrome
Hypospadias, Micrognathia, Vertebral segmentation defect, Abnormality of the urinary system, Vesi... ORPHA:2745
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida, Supernumerary vertebrae OMIM:193500
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb OMIM:619239
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Bifid ureter, Occipital meningocele, Spina... OMIM:267750
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Holoprosencephaly 3
Hydronephrosis, Holoprosencephaly OMIM:142945
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Micrognathia, Patellar... OMIM:606170
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Renal hypoplasia, Nephrocalcinosi... OMIM:617913
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Micrognathia, Hyperlordosis, Renal hypoplasia/aplasia, Abnormal tibia morphology,... ORPHA:363700
1P36 Deletion Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the k... ORPHA:1606
Monosomy 22Q13.3
Renal dysplasia, Sacral dimple, Vesicoureteral reflux, Large hands, Clinodactyly of the 5th finge... ORPHA:48652
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Charge Syndrome
Talipes, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Vesicoureteral reflux, Bi... ORPHA:138
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Charge Syndrome
Hypoplasia of the ulna, Renal agenesis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, ... OMIM:214800
Arboleda-Tham Syndrome
Microretrognathia, Pes planus, Brachydactyly, Recurrent urinary tract infections, Sandal gap, Dev... OMIM:616268
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Six lumbar vertebrae, Micrognathia OMIM:619122
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of t... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of t... ORPHA:353277
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Long penis, Nephrolithiasis, Scoliosis, Short distal pha... OMIM:135500
Wiedemann-Rautenstrauch Syndrome
Wide penis, Hypoplastic vertebral bodies, Vesicoureteral reflux, Dilatation of renal calices, Age... ORPHA:3455
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... OMIM:613458
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Pes planus, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thoracolum... ORPHA:480880
Ichthyosis, Congenital, Autosomal Recess