Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
FAT atypical cadherin 4
Synonyms:
6030410K14Rik

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 Fat4 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 predicted to be associated to Fat4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Tarp Syndrome
Tongue nodules, Clinodactyly, Tetralogy of Fallot, High palate, Horseshoe kidney, Prominent antih... OMIM:311900
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Scarf Syndrome
Perineal hypospadias, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Short ... ORPHA:3134
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short ... ORPHA:66637
Tarp Syndrome
Clinodactyly, Small earlobe, Abnormal duodenum morphology, Hydronephrosis, Micrognathia, Scoliosi... ORPHA:2886
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, Micrognathia, Abnormality of ... ORPHA:1166
Prune Belly Syndrome
Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, Recurrent urinary tract infecti... ORPHA:2970
Cornelia De Lange Syndrome 1
Proteinuria, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Micromelia, Ventr... OMIM:122470
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Bifid uvula, Postaxial foot polydactyly, Low-set ears, Short sternum, Lobulate... ORPHA:2752
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Hydronephrosis, Abnormal rib morphology, Micrognathia, Anorectal anomaly, Scoliosis... ORPHA:1834
Renal Dysplasia-Limb Defects Syndrome
High palate, Short neck, Phocomelia, Low-set ears, Short sternum, Short ribs, Renal hypoplasia, S... OMIM:266910
Scarf Syndrome
Lambdoidal craniosynostosis, Perineal hypospadias, Short neck, Abnormal form of the vertebral bod... OMIM:312830
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Abnormal heart morphology, Micrognathia, Short sternum OMIM:184800
Donnai-Barrow Syndrome
Low-set ears, Short sternum, Proteinuria, Sensorineural hearing impairment, Intestinal malrotatio... OMIM:222448
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Osteoporosis, Polycyst... OMIM:184260
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Bronchiolitis, Abnormality of the kidney, Rec... OMIM:615993
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Kyphosis, Postaxial foot polydactyly, Low-set ears, Short sternum, P... OMIM:258850
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Short neck, 2-3 toe syndactyly, Low-set ears, Cutaneous syndactyly, Re... OMIM:236500
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Low-... ORPHA:2631
Femoral-Facial Syndrome
Abnormal rib morphology, Polycystic kidney dysplasia, Micrognathia, Scoliosis, Hip dysplasia, Rib... ORPHA:1988
Verheij Syndrome
Renal agenesis, Clinodactyly, Renal cyst, Short neck, Renal hypoplasia, Short 5th finger, Scolios... OMIM:615583
Poland Syndrome
Abnormality of the outer ear, Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Finger ... ORPHA:2911
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:617087
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Marshall-Smith Syndrome
Clinodactyly of the 5th finger, Scoliosis, Ventricular septal defect, Bullet-shaped middle phalan... OMIM:602535
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal rib morphology, Polycystic kidney dysplasia, Micrognathia, Ov... ORPHA:3404
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Metatropic Dysplasia
Clinodactyly of the 5th finger, Abnormal rib morphology, Micromelia, Scoliosis, Narrow chest, Coa... ORPHA:2635
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Hydronephrosis, Macroglossia, Sacrococcygeal teratoma, Short 1st metacarpal, Shor... OMIM:269150
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Hydrocephalus,... OMIM:617866
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Short greater sciatic notch, Total anomalous pu... OMIM:312870
Rhyns Syndrome
Osteopenia, Abnormality of long bone morphology, Multicystic kidney dysplasia, Abnormal acetabulu... ORPHA:140976
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Malrotation of colon, Absent or minimally ossified verteb... ORPHA:1190
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, High palate, Short neck, Underfolded helix, Short ste... ORPHA:2563
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst, Low-set ears OMIM:614870
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Tracheomalacia, Missing ribs, Hammerto... OMIM:608022
Turnpenny-Fry Syndrome
Clinodactyly, Tapered finger, Small hand, Narrow chest, High palate, Patent ductus arteriosus, Sh... OMIM:618371
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, High palate, Recurrent upper respiratory tract infections, Short neck, Pneumonia, L... OMIM:300209
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Atrial sept... ORPHA:1354
Distal Tetrasomy 15Q
Hydronephrosis, Micrognathia, Polycystic kidney dysplasia, Scoliosis, High palate, Flexion contra... ORPHA:314588
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Micrognathia, Scoliosis, Genu valgum, Cleft palate, High palate, Short t... OMIM:618363
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Hydronephrosis, Decreased fibular diameter, Decreased skull ossifica... OMIM:616897
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Joint stiffness, Kyphosis, Short thorax, Patent ductus ... ORPHA:2655
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vertebral ossification, Del... ORPHA:93296
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... ORPHA:2790
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mosaic Variegated Aneuploidy Syndrome 1
Renal cyst, Short neck, Low-set ears, Short sternum, Micropenis, Micrognathia, Nephroblastoma, Po... OMIM:257300
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Joint hyperflexib... ORPHA:3033
Coffin-Siris Syndrome 1
Hydronephrosis, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, Clinodactyly ... OMIM:135900
Meckel Syndrome, Type 10
Renal cyst, Sacral dimple, Micropenis, Occipital encephalocele, Anencephaly, Cleft palate, Postax... OMIM:614175
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Micrognathia, Spina bifida, 2-3 finger syndactyly, High palate, Tra... ORPHA:2437
Vacterl/Vater Association
Hydronephrosis, Abnormal rib morphology, Anorectal anomaly, Multicystic kidney dysplasia, Abnorma... ORPHA:887
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Flexion contracture, Short neck, Low-set ears, Decreased skull ossificati... OMIM:263210
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Trisomy 13
Hydronephrosis, Abnormal rib morphology, High, narrow palate, Scoliosis, Ventricular septal defec... ORPHA:3378
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Anal atresia, Ab... OMIM:613390
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Joint stiffness, Missing ribs, Uretera... ORPHA:3027
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Momo Syndrome
High palate, Short neck, Underfolded helix, Short sternum OMIM:157980
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Irregular carpal bones, A... ORPHA:750
Hajdu-Cheney Syndrome
Osteoporosis, Micrognathia, Genu valgum, Large earlobe, High palate, Short neck, Patent ductus ar... OMIM:102500
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, 11 pairs of ribs, Clinodactyly of the 5th finger, Micrognathia, S... OMIM:117650
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Pectus excavatum, Radioulnar synostosis, Multicystic kidney dysplasia, Protr... ORPHA:3270
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Hip dislocation, High palate, Abnormality o... ORPHA:93359
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Sacral dimple, Short thorax, Ureteral atresia, Patent ductus arteriosu... OMIM:618845
Horizontal Gaze Palsy With Progressive Scoliosis
Sensorineural hearing impairment, Scoliosis, Kyphosis, Short neck ORPHA:2744
Bor Syndrome
Branchial cyst, Renal hypoplasia/aplasia, Hearing impairment, Hydronephrosis, Atresia of the exte... ORPHA:107
Pallister-Hall-Like Syndrome
Micropenis, Short ribs, Occipital encephalocele, Micrognathia, Micromelia, Abnormal heart morphol... OMIM:241800
Genitopalatocardiac Syndrome
Renal cyst, Low-set ears, Double outlet right ventricle, Micrognathia, Ventricular septal defect,... OMIM:231060
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Tetraamelia, Aplasia/Hypopl... ORPHA:3301
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Renal cyst, Craniosynostosis, Stage 5 chronic kidney disease, Bifid uvula, Short fem... OMIM:266920
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Turner Syndrome Due To Structural X Chromosome Anomalies
Recurrent otitis media, Gastrointestinal inflammation, Osteoporosis, Micrognathia, High, narrow p... ORPHA:99413
Mosaic Monosomy X
Recurrent otitis media, Gastrointestinal inflammation, Osteoporosis, Micrognathia, High, narrow p... ORPHA:99228
Monosomy X
Recurrent otitis media, Gastrointestinal inflammation, Osteoporosis, Micrognathia, High, narrow p... ORPHA:99226
Turner Syndrome
Recurrent otitis media, Gastrointestinal inflammation, Osteoporosis, Micrognathia, High, narrow p... ORPHA:881
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Polycystic kidney dysplasia, Micromelia, Narrow chest, Cleft palate, Brachydactyly, ... OMIM:614091
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Atrial septal defect, Conductive hearing impairment, Sensorineural hearing impa... ORPHA:261197
Branchiootorenal Syndrome 1
Bifid uvula, Renal malrotation, Polycystic kidney dysplasia, Renal dysplasia, Cleft palate, Renal... OMIM:113650
Say Syndrome
Cystic renal dysplasia, Tapered finger, Micrognathia, Ulnar deviation of the 3rd finger, Short di... OMIM:181180
Mosaic Trisomy 9
Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Micrognathia, Micromelia, Renal dysplas... ORPHA:99776
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Squared iliac bones, Narrow chest, Cleft palate, Encephalocele, Patent ductus ar... OMIM:616300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... OMIM:228940
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Polycystic kidney dysplasia, Narrow chest, Hemivert... OMIM:200980
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Pancreatic cysts, Abnormal thorax morphology, Abnormal r... ORPHA:1318
Gorham-Stout Disease
Cortical irregularity, Abnormality of the internal auditory canal, Abnormal pelvis bone morpholog... ORPHA:73
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ureteral stenosis, Nephrocalcinosis, Osteopenia, Renal cyst, Hypoplasia of the ulna,... OMIM:615398
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Long toe, Cutaneous syndactyly, Patent ductus arterios... OMIM:618316
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Cystic renal dysplasia, Hamartoma of tongue, Ventricular septal defect, Short to... OMIM:269860
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Bifid uvula, Abnormal penis morphology, Hydronephrosis, ... ORPHA:2461
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Tracheomalacia, Clinodactyly of the 5th finger, Conductive hearing im... ORPHA:1393
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Abnormal lung lobation, Hemivertebrae,... ORPHA:958
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Low-s... ORPHA:85166
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Renal dysplasia, Vertebral s... ORPHA:2578
Isolated Polycystic Liver Disease
Back pain, Gastroesophageal reflux, Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Abnormal rib morphology, Micrognathia, Scoliosis,... ORPHA:90652
Trisomy 20P
Abnormal hip bone morphology, Hydronephrosis, Micrognathia, Scoliosis, Spina bifida, Protruding e... ORPHA:261318
Pallister-Hall Syndrome
Hydronephrosis, Atresia of the external auditory canal, Renal dysplasia, Ventricular septal defec... OMIM:146510
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Hydr... OMIM:308050
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Missing ribs, Block vertebrae, Short thorax, Dextrocardia, Abnormal rib morphol... OMIM:613686
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Abnormality of the vertebral column, Enlarged kidney, Absent radius, Hydronephrosi... OMIM:314390
Trisomy X
Clinodactyly of the 5th finger, Pectus excavatum, Multicystic kidney dysplasia, Renal hypoplasia/... ORPHA:3375
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Ventricular septal defect, Cleft pal... ORPHA:1692
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Abnormality of the kidney, Polydactyly, Syndactyly OMIM:615982
Joubert Syndrome 7
Renal cyst, Scoliosis, Postaxial hand polydactyly, Postaxial polydactyly, Nephronophthisis, Encep... OMIM:611560
Meier-Gorlin Syndrome 7
Scoliosis, Duodenal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Cleft... OMIM:617063
Marden-Walker Syndrome
Dextrocardia, Micrognathia, High, narrow palate, Scoliosis, Cleft palate, High palate, Short neck... OMIM:248700
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Low-set ears, Polycystic kidney dysplasia OMIM:614859
Vacterl Association With Hydrocephalus
Absent thumb, Abnormality of the vertebral column, Radial club hand, Renal hypoplasia, Abnormal v... OMIM:276950
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Ectopic ossification in... ORPHA:337
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Hamartoma of tongue, Polycystic kidney dysplasia, Ventricular septal defect, Pol... OMIM:263520
Genitopalatocardiac Syndrome
Brachydactyly, Kyphosis, Low-set ears, Micrognathia, Multicystic kidney dysplasia, Scoliosis, Pos... ORPHA:2075
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot poly... ORPHA:2091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micrognathia, Anisospondyly, Posteriorly rotated ears, Short long bone,... OMIM:224410
Harrod Syndrome
High palate, Abnormality of pelvic girdle bone morphology, Kyphosis, Multicystic kidney dysplasia... ORPHA:2115
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Craniofacial osteosclerosis, Fibular hypoplasia, Clinodactyly of the... OMIM:300373
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Ectopic kidney, 2-3 toe syndactyly, Conductive hearing impai... OMIM:239800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Foot polydactyly, Proteinuria, Fibular hypoplasia, Hypoplastic iliac wing, Narro... OMIM:208500
Juberg-Hayward Syndrome
Toe syndactyly, Horseshoe kidney, Abnormality of finger, Hammertoe, Short thumb, Hypoplasia of th... ORPHA:2319
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Small earlobe, Abnormal bone ossification, Hypopl... ORPHA:93315
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Abnormal lung lobation, Esophagitis, ... ORPHA:2538
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Overlapping fingers, Micrognathia, Knee flexion contracture, Unilateral wrist ... OMIM:616531
Radio-Renal Syndrome
Renal agenesis, Brachydactyly, Chylothorax, Short neck, Short palm, Abnormal form of the vertebra... ORPHA:3015
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Hydronephrosis, Micrognathia, Spina bifida, Aplasia/Hypoplas... ORPHA:2839
Pentalogy Of Cantrell
Renal agenesis, Hydrocephalus, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morpholog... ORPHA:1335
Trisomy 1Q
Abnormality of the outer ear, Toe syndactyly, Short thorax, Patent ductus arteriosus, Low-set ear... ORPHA:261344
Kaposiform Lymphangiomatosis
Fractures of the long bones, Enlarged kidney, Abnormal pelvis bone morphology, Abnormal sacrum mo... ORPHA:464329
Trisomy 17P
High palate, Flexion contracture, Short neck, Patent ductus arteriosus, Low-set ears, Hydronephro... ORPHA:261290
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Distal Monosomy 10Q
Abnormality of the outer ear, Clinodactyly, Functional abnormality of the bladder, Sandal gap, Cl... ORPHA:96148
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Finger syndactyly, Short neck, Kyphosis, Abnormal form of the vertebra... ORPHA:2311
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Encephalocele OMIM:614465
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Scoliosis, Vertebral fusion, ... OMIM:272460
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intestinal malrotation, Abnormality of fibula morphology, Tibial bowing... ORPHA:3035
Mosaic Trisomy 16
Clinodactyly, Short thumb, Abnormal thorax morphology, Short forearm, Ventricular septal defect, ... ORPHA:1708
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Internally ro... OMIM:617468
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Abnormality of the vertebral column, Hearing impairment, Aganglionic m... OMIM:308205
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Low-set ears, Thin ribs, Increased susceptibility to fractures, Micrognathia... OMIM:312150
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Low-set ears, Polycystic kidney dysplasia, Hip dislocation, Pericardial eff... OMIM:608776
Focal Dermal Hypoplasia
Hydronephrosis, Multicystic kidney dysplasia, Scoliosis, Spina bifida, Ventricular septal defect,... ORPHA:2092
Femoral-Facial Syndrome
Missing ribs, Micrognathia, Polycystic kidney dysplasia, Scoliosis, Ventricular septal defect, He... OMIM:134780
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Hepatoblastoma, Hydronephrosis, Abnormal thorax morphology, Microgn... ORPHA:798
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Fryns Syndrome
Hydronephrosis, Short thumb, Ventricular septal defect, Cleft palate, Renal agenesis, Short neck,... OMIM:229850
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Low-set ears, Hearing impairment, Hyd... OMIM:618454
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Low-set ears, Thin ribs, Increased susceptibility to fractures, Micrognathia... OMIM:253290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, 11 pairs of ribs, Tracheoesophageal fistula, Abnormal vertebral morphol... ORPHA:77298
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Abnormal he... ORPHA:1120
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Fryns Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Micrognathia, Multicystic kidney dysplasia, Narro... ORPHA:2059
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Short neck, Low-set ears, Micropenis, Short ribs, Aplastic clavicle, Preaxial poly... OMIM:616546
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Micromelia, Broad long bones, Narrow chest, Cleft palate, Encephalocele, Bowing of ... ORPHA:1865
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Micrognathia, High, narrow palate, Renal dysplasia, Scoliosis, Abnormal lung lobation, Morphologi... ORPHA:369837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Anencephaly, Occipital encephalocele, Optic nerve dysplas... OMIM:615287
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Craniosynostosis, Short neck, Low-set ears, Hypoplastic ... OMIM:200995
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Bresek Syndrome
Hydrocephalus, Low-set ears, Renal hypoplasia, Optic nerve hypoplasia, Aganglionic megacolon, Sco... ORPHA:85284
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Hydronephrosis, Thin ribs, Supernumerary v... OMIM:271520
Meckel Syndrome, Type 4
Bowing of the long bones, Renal cyst, Atrial septal defect, Anencephaly, Postaxial hand polydacty... OMIM:611134
Phaver Syndrome
Butterfly vertebrae, Myelomeningocele, Joint stiffness, Abnormal form of the vertebral bodies, Lo... ORPHA:2876
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Abnormal 5th metacarpal morphology, Rhizomelic arm shortening, Cone-shaped ... ORPHA:397715
Renal Coloboma Syndrome
Renal hypoplasia, Optic nerve dysplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal ins... ORPHA:1475
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Colon cancer, Large intestinal polyposis, Multiple pulmonary cysts, S... OMIM:135150
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Micrognathia, Polycystic kidney dysplasia OMIM:617562
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Micrognathia, Micromelia, Hip dislocation, Brachydactyly, Flexion contracture, ... OMIM:210710
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Genitopatellar Syndrome
Hypoplastic ischia, Short palm, Low-set ears, Atrial septal defect, Hydronephrosis, Hearing impai... ORPHA:85201
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal stenosis, Micropenis, Scolios... OMIM:301900
Cousin Syndrome
Microtia, first degree, Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Hypoplastic... OMIM:260660
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycy... OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Hypoplastic sacrum, Atrial septal defect, Renal hypoplasia, Sensorineural hearing im... OMIM:617660
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Tetralogy of Fallot, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, M... OMIM:617925
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Atresia of the external ... OMIM:224690
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Tibial torsio... ORPHA:56304
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Hydronephrosis, Sandal gap, Clinodactyly of the 5th finger, Microgn... ORPHA:1507
Mckusick-Kaufman Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplastic left heart, Ventricular septal defect, ... ORPHA:2473
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Oligomeganephronia
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Hajdu-Cheney Syndrome
Osteoporosis, Decreased skull ossification, Micrognathia, Partial absence of toe, Scoliosis, Mitr... ORPHA:955
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Vacterl With Hydrocephalus
Renal agenesis, Hydrocephalus, Abnormality of the outer ear, Abnormal form of the vertebral bodie... ORPHA:3412
Severe Congenital Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Low-set ears, Micropenis, Thin ribs, Abnormal t... ORPHA:171430
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5th finger, Abnormal sca... ORPHA:2141
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent thumb, Cystic renal dysplasia, Horseshoe kidney, Hand oligodact... OMIM:156810
Kleefstra Syndrome
Tracheomalacia, Hydronephrosis, Macroglossia, Scoliosis, Ventricular septal defect, Thickened hel... ORPHA:261494
C Syndrome
Clinodactyly, Renal cortical cysts, Toe syndactyly, High palate, Postaxial foot polydactyly, Pate... OMIM:211750
Alveolar Echinococcosis
Renal cyst, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts, A... ORPHA:284
Polysyndactyly With Cardiac Malformation
Renal cyst, Atrial septal defect, Duplication of phalanx of hallux, Preaxial hand polydactyly, Ve... OMIM:263630
Fanconi Anemia, Complementation Group B
Renal agenesis, Absent thumb, Bilateral radial aplasia, Short neck, Patent ductus arteriosus, Low... OMIM:300514
Bardet-Biedl Syndrome 17
Brachydactyly, Renal cyst, Mesoaxial polydactyly, Postaxial foot polydactyly, Micropenis, Polyuri... OMIM:615994
Kagami-Ogata Syndrome
Coxa valga, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Thin ribs, Micro... OMIM:608149
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Low-set ears, Short ribs, Lateral clavicle hook, Hypoplasia of th... OMIM:617895
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the ureter, Abnormality of the gastrointestinal tract, Gastro... ORPHA:2869
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Ureteral duplication, Abnormal penis morphology, In... ORPHA:1756
Floating-Harbor Syndrome
Epididymal cyst, Clinodactyly, Mesocardia, Hydronephrosis, 11 pairs of ribs, Broad fingertip, Sho... ORPHA:2044
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Hearing impairment, Renal d... OMIM:616733
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Joint laxity, Rena... OMIM:120330
15q26 overgrowth syndrome
Abnormality of toe, Hydronephrosis, Tapered finger, Micrognathia, Polycystic kidney dysplasia, Sc... DECIPHER:81
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Posteriorly rotated ears, Macrotia OMIM:618392
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Acromesomelia, Hydronephrosis, Clinodactyly of the 5th finger, Scolios... ORPHA:464306
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Intestinal malrotation, Decreased s... OMIM:601163
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Dysphagia, Bowing of the long ... OMIM:601559
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
2Q37 Microdeletion Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Tracheomalacia, Short palm, Short neck, Short m... ORPHA:1001
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hearing abnormality, Renal cyst, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Lo... ORPHA:2031
Holt-Oram Syndrome
Aplasia of the ulna, Hypoplastic left heart, Ventricular septal defect, Thoracic scoliosis, Phoco... OMIM:142900
Cystic Echinococcosis
Abnormality of the vertebral column, Renal cyst, Pulmonary cyst, Ovarian cyst, Multiple pulmonary... ORPHA:400
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex conge... OMIM:265000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Abnormal helix morphology, Low-set ears, Epiphyseal stippl... OMIM:614866
Joubert Syndrome 14
Renal cyst, Low-set ears, Postaxial polydactyly, Posteriorly rotated ears, Hydrocephalus, Encepha... OMIM:614424
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency, Death... OMIM:614922
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis, Hearing impairment, Abnormal nerve conduction velocity ORPHA:101075
Bardet-Biedl Syndrome
Nephrotic syndrome, Finger syndactyly, Short neck, Hypoplasia of penis, Multicystic kidney dyspla... ORPHA:110
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Ri... ORPHA:2990
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Anencephaly, Polydactyly, Postaxial hand polydactyly, Menin... OMIM:603194
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Narrow vertebral interpedicular distance, Scoliosis, Metaphyseal widening, Central ve... ORPHA:93352
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Recurrent otitis media, Hammertoe, Gastrointestinal dysmotility, Hydro... OMIM:270400
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs in... OMIM:615415
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Cardiomegaly, Short neck, Overlapping fingers,... OMIM:617022
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hydronephrosis, Tapered finger, Scoliosis, Ventricular septal defect, ... ORPHA:464311
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, High palate, Increased urine alpha-ketoglutarate concentration, Cystic renal dysp... OMIM:220500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Osteoporosis, Micrognathia, Scoliosis, Ha... ORPHA:536467
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Nephropathy OMIM:172500
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Osteopenia, Abnormality of limb bone morp... ORPHA:79321
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Abnormal rib morphology, Rectovaginal fistula, Toe clinodactyly, ... ORPHA:857
Meckel Syndrome, Type 6
Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, P... OMIM:612284
Jacobsen Syndrome
Missing ribs, Hydronephrosis, Multicystic kidney dysplasia, Hypoplastic left heart, Scoliosis, Sp... ORPHA:2308
Robinow Syndrome
Acromesomelia, Missing ribs, Tricuspid atresia, Hydronephrosis, Micrognathia, Multicystic kidney ... ORPHA:97360
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Joubert Syndrome 20
Renal cyst, Syndactyly, Postaxial polydactyly OMIM:614970
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Absent radius, Low-set ears, Oligodactyly, Abnormal rib morphology,... OMIM:251230
Zellweger Syndrome
High palate, Optic atrophy, Epiphyseal stippling, Hydronephrosis, Sensorineural hearing impairmen... ORPHA:912
Townes-Brocks Syndrome 1
Stahl ear, 2-4 finger syndactyly, Multicystic kidney dysplasia, Renal dysplasia, Ventricular sept... OMIM:107480
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis OMIM:617056
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis, Truncus arteriosus OMIM:274210
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Osteopenia, Pancreatic cysts, Low-set ears, Sensorineural hearing impa... OMIM:610199
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Renal cyst, Craniosynostosis, Horseshoe kidney, Low-set ears, Short metacarpal, Me... ORPHA:166035
Aphalangy With Hemivertebrae
Aphalangy of hands and feet, Aplasia of the phalanges of the toes, Ventricular septal defect, Aph... OMIM:207620
Nabais Sa-De Vries Syndrome, Type 2
High palate, Low-set ears, Clinodactyly of the 5th finger, Gastroesophageal reflux, Tapered finge... OMIM:618829
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Low-set ears, Scoliosis, Neonatal death, Facial diplegia OMIM:611890
Joubert Syndrome 35
Low-set ears, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tra... OMIM:618161
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Intestinal m... ORPHA:210122
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Short palm, Low-set ears, Multicystic kidney dysplasia, Arachn... ORPHA:73246
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Brachydactyly, Renal cyst, Craniosynostosis, Horseshoe kidney, Low-set ears, Short metacarpal, Me... OMIM:250410
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ureteral atresia, Hydronephrosis, Ovarian cyst, Micrognathia, Multicys... OMIM:614527
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck, Posteriorly rotated ears, Low-set ears OMIM:618393
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Osteopenia, Flexion contracture, Proteinuria, Proximal tubulopath... OMIM:212065
Fraser Syndrome 1
Aplasia/Hypoplasia of the sternum, Atresia of the external auditory canal, Abnormality of the sma... OMIM:219000
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Decreased nerve conduction velocity, Kyphosis, Hearing impairment ORPHA:101078
Raine Syndrome
Hydronephrosis, Micrognathia, Micromelia, Arthrogryposis multiplex congenita, Protruding ear, Cle... OMIM:259775
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Increased bone mineral density, Abnormality of epiphysis morphology, Sh... ORPHA:50945
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis, Sensorineural hearing impairment OMIM:616756
2P15P16.1 Microdeletion Syndrome
High palate, Toe clinodactyly, Kyphosis, Low-set ears, Sandal gap, Hydronephrosis, Tapered finger... ORPHA:261349
Cranioectodermal Dysplasia 2
Horizontal ribs, Clinodactyly, Micrognathia, Narrow chest, Left ventricular hypertrophy, Cleft pa... OMIM:613610
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Hypospadias ORPHA:1548
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Abnormal rib morphology, Micrognathia, Multicystic kidney dysplasia, Scoliosis, V... ORPHA:818
Esophageal Atresia
Clinodactyly, Gastrointestinal dysmotility, Anorectal anomaly, Scoliosis, Ventricular septal defe... ORPHA:1199
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Micrognathia, Lower limb undergrowth, Hydrocephalus, Short... OMIM:236640
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Morphological abnormality of the gastrointestinal tract, Patent ductus arter... ORPHA:2847
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Posteriorly rotated ears, Low-set ears OMIM:617190
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Short neck, Kyphosis, Low-set ears, Hyperlordosis, Fused cervical vert... ORPHA:2522
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Kyphosis, Renal insufficiency OMIM:248760
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Intestinal hypoplasia, Micrognathia, Scoliosis, Posteriorly rotated ... ORPHA:994
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Hydronephrosis, Clinodactyly of the 5th finger, Abnormal rib morphology, Macroglo... ORPHA:373
Axial Osteomalacia
Renal cyst, Increased bone mineral density, Osteomalacia OMIM:109130
Distal Monosomy 12Q
Hydronephrosis, Clinodactyly of the 5th finger, Micrognathia, Polycystic kidney dysplasia, High, ... ORPHA:96149
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Renal cyst, Cupped ear, Low-set ears, Tapered finger, Down-sloping shoulders, Micro... OMIM:615560
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Lacticaciduria, Hyperlordosis, Hepatic periportal necrosis, Polycystic... ORPHA:26791
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydronephrosis, Micrognathia, Micromelia, Urethrovaginal fistula, Narrow chest, Abnormal pelvis b... ORPHA:93271
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Renal cyst, Hip dysplasia, Patent foramen ovale, Patent ductus arteriosus, Low-set e... OMIM:616975
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Abnormal ilium morphology, Hydronephrosis, Micrognathia, Renal dysplasia, Bl... OMIM:614080
Pagod Syndrome
Encephalocele, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Abnormal rib morphology... ORPHA:991
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Protruding ear, Enlarged kidney, Abnormal thumb morphology, Bifid ureter, Renal malrotation, Sens... ORPHA:500095
Steinfeld Syndrome
Abnormality of the vertebral column, Hypoplasia of the ulna, Missing ribs, Phocomelia, Bifid uvul... OMIM:184705
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Coronal cleft vertebrae, Abnormality of finger, Optic nerve hypoplasia,... ORPHA:536471
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Tricuspid atresia, Low-set ears, Atrial sept... OMIM:617478
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Renal cyst, Multiple renal cysts OMIM:614883
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Polycystic kidney dysplasia, Mesomelic ... ORPHA:3103
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Low-set ears, Hyperlordosis, Scoliosis, Hypospadias OMIM:615761
Masa Syndrome
Hyperlordosis, Kyphosis, Hydrocephalus OMIM:303350
Phelan-Mcdermid Syndrome
High palate, Sacral dimple, 2-3 toe syndactyly, Patent ductus arteriosus, Clinodactyly of the 5th... OMIM:606232
Vater/Vacterl Association
Hydronephrosis, Short thumb, Patent urachus, Abnormal rib morphology, Renal dysplasia, Scoliosis,... OMIM:192350
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Micrognathia, Arthrogryposis multi... OMIM:253310
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Syndactyly, Micrognathia, Polycystic kidney dysplasia, Cleft pala... OMIM:249000
Trisomy 10P
High palate, Rectovaginal fistula, Abnormality of the ear, Flexion contracture of thumb, Low-set ... ORPHA:171929
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Kyphosis, Short neck, Microtia, Hypoplasia of penis, Low... ORPHA:2983
1P36 Deletion Syndrome
Foot polydactyly, Hydronephrosis, 11 pairs of ribs, Clinodactyly of the 5th finger, Bifid ribs, S... ORPHA:1606
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Abnormality of pelvic girdle bone morphology, Finger syndactyly, Patent ductus ar... ORPHA:1112
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Penile Agenesis
Fetal pyelectasis, Rectal fistula, Urethral atresia, male, Cystic renal dysplasia, Urethral fistu... ORPHA:49
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Chromosome 13Q33-Q34 Deletion Syndrome
Tapered finger, Short thumb, Micrognathia, Narrow chest, Left ventricular hypertrophy, Encephaloc... OMIM:619148
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Multicystic kidney dysplasia, P... OMIM:607361
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Horseshoe kidney, Renal malrotation, Patent d... OMIM:601186
Alagille Syndrome 1
Renal tubular acidosis, Hypoplasia of the ulna, Tetralogy of Fallot, Multiple small medullary ren... OMIM:118450
Primary Pulmonary Hypoplasia
Ureteral stenosis, Patellar hypoplasia, Low-set ears, Dextrocardia, Micrognathia, Recurrent respi... ORPHA:2257
22Q11.2 Deletion Syndrome
Foot polydactyly, Small earlobe, Tricuspid atresia, Gastrointestinal hemorrhage, Abnormal thorax ... ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, High palate, Ureteral duplication, Long toe, Low-set ear... OMIM:608836
Alg9-Cdg
Ureteral hypoplasia, Bifid uvula, Hydronephrosis, Abnormal bone ossification, Micrognathia, Ventr... ORPHA:79328
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal... ORPHA:480536
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Transketolase Deficiency
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal heart ... ORPHA:488618
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Kyphosis, Interstitial emphysema, Overlapping fingers, Dilatation of the re... OMIM:619708
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Renal insufficiency, Mitral valve prolapse, Hep... OMIM:173900
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Sandhoff Disease
Kyphosis, Hearing impairment ORPHA:796
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Tonne-Kalscheuer Syndrome
Brachydactyly, Velopharyngeal insufficiency, Micropenis, Micrognathia, Abnormal heart morphology,... OMIM:300978
Cloacal Exstrophy
Hydroureter, Ectopic kidney, Myelomeningocele, Horseshoe kidney, Intestinal duplication, Abnormal... ORPHA:93929
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Abnormal nerve conduction velocity, Scoliosis, Optic atrophy, Hearing impairment ORPHA:99014
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Prominent crus of helix, Scoliosis, Hallux valgus, Cleft palate, ... ORPHA:794
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Pulmonic stenosis, Hypopla... ORPHA:139466
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Optic nerve dysplasia, Metatarsus adductus, Polycystic kidney dysplasi... OMIM:214110
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Patent ductus arteriosus, Atrial septal defe... OMIM:208540
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Conductive hearing impairment, Narr... ORPHA:207
Baller-Gerold Syndrome
Carpal synostosis, Bifid uvula, Micrognathia, Carpal bone aplasia, Scoliosis, Bicoronal synostosi... OMIM:218600
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Respiratory infections in early life, Clinodactyly of the 5th finger, Contractures of th... ORPHA:96179
Meier-Gorlin Syndrome 3
Absent sternal ossification, Genu varum, Recurrent pneumonia, Tracheomalacia, Patellar hypoplasia... OMIM:613803
Mosaic Trisomy 20
Clinodactyly, Horseshoe kidney, Kyphosis, Abnormal mitral valve morphology, Dysplastic tricuspid ... ORPHA:1724
Craniofacial Microsomia
Block vertebrae, Vertebral hypoplasia, Atresia of the external auditory canal, Micrognathia, Mult... OMIM:164210
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Low-set ears, Occipital encephalocele, Neoplasm of the liver, Multicystic kidney d... ORPHA:1454
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Restrictive Dermopathy 1
Short umbilical cord, Congenital pseudoarthrosis of the clavicle, Decreased calvarial ossificatio... OMIM:275210
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hydronephrosis, Micrognathia, Macroglossia, High, narrow palate, Ventricular septal defect, Dysph... OMIM:214100
Agnathia-Otocephaly Complex
Aglossia, Tracheomalacia, Low-set ears, Conductive hearing impairment, Situs inversus totalis, Mi... OMIM:202650
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Minicore Myopathy With External Ophthalmoplegia
High palate, Joint laxity, Recurrent respiratory infections, Scoliosis, Facial palsy, Pulmonary h... OMIM:255320
Sialidosis Type 2
Hearing impairment, Umbilical hernia, Kyphosis, Nephropathy ORPHA:87876
Renal Agenesis, Bilateral
Renal agenesis, Abnormal sacrum morphology, Low-set ears, Tracheoesophageal fistula, Sirenomelia,... ORPHA:1848
Tetrasomy 9P
Missing ribs, Bifid uvula, Aplasia/Hypoplasia of the clavicles, Hydronephrosis, Clinodactyly of t... ORPHA:3310
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Bladder diverticulum, Tracheomalacia, Patent foramen ovale, Joint laxity, Sandal gap, ... OMIM:613177
Winchester Syndrome
Kyphosis OMIM:277950
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Thauvin-Robinet-Faivre Syndrome
Bowing of the legs, Renal cyst, Bifid ureter, Renal malrotation, Sensorineural hearing impairment... OMIM:617107
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Intestinal malrotation, Tracheoesophageal fistula, Anal... ORPHA:2973
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Multiple prenatal fractures,... OMIM:616867
Duane Retraction Syndrome
Brachydactyly, Ectopic kidney, Short neck, Abnormal form of the vertebral bodies, Absent radius, ... ORPHA:233
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Scoliosis, Kyphosis, Hearing impairment OMIM:614409
Williams Syndrome
Proteinuria, Clinodactyly of the 5th finger, Osteoporosis, Colonic diverticula, Micrognathia, Mac... ORPHA:904
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Clinodactyly, High palate, Distal arthrogryposis, Low-set ears, Hydronephrosis, Renal hypoplasia,... OMIM:618975
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Short neck, Kyphosis, Hypoplasia of penis, Aplasia/Hypoplasia of the e... ORPHA:3409
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Nephro... ORPHA:705
Fraser Syndrome
Atresia of the external auditory canal, Multicystic kidney dysplasia, Abnormal lung lobation, Enc... ORPHA:2052
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Kyphosis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Agangli... ORPHA:261222
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid OMIM:619003
Joubert Syndrome 2
High palate, Renal cyst, Low-set ears, Optic disc coloboma, Postaxial hand polydactyly, Abnormal ... OMIM:608091
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Colon cancer, Atrial septal defect, Clinodactyly of the 5th finger, Subvalv... ORPHA:1052
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Protruding ear ORPHA:85317
Tetrasomy 5P
High palate, Short neck, Low-set ears, Clinodactyly of the 5th finger, Short hallux, Micrognathia... ORPHA:3309
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Metaphyseal spurs, Micrognathia, Ab... ORPHA:96334
Diphallia
Renal malrotation, Scoliosis, Duplicated colon, Hemivertebrae, Penoscrotal transposition, Abnorma... ORPHA:227
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Posteriorly rotated ears OMIM:300831
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia,... OMIM:306955
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis, Otitis media, Posteriorly rotated ears OMIM:618050
Distal Monosomy 15Q
Generalized joint laxity, Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart, Mit... ORPHA:1596
Joubert Syndrome 21
Renal cyst, Occipital encephalocele, Sensorineural hearing impairment, Hyperechogenic kidneys, Be... OMIM:615636
Autosomal Recessive Spastic Paraplegia Type 53
Abnormality of the auditory canal, Kyphosis, Hearing impairment ORPHA:319199
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Thoracic hypoplasia, Upper limb undergrowth, Pulmonary hypoplasia OMIM:613124
Peroxisome Biogenesis Disorder 1B
Renal cyst, Optic atrophy, Sensorineural hearing impairment, Epiphyseal stippling, Hyperoxaluria OMIM:601539
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Spinal canal stenosis, Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, O... ORPHA:50815
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Fat malabsorption, Dark urine, Rickets, Steatorrhea ORPHA:79303
Matthew-Wood Syndrome
Horseshoe kidney, Low-set ears, Renal hypoplasia, Duodenal stenosis, Abnormal lung morphology, Ve... ORPHA:2470
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Kyphosis, Ovoid vertebral bodies, Cervical subluxation, Hypop... OMIM:253000
Mcdonough Syndrome
Kyphosis, Low-set, posteriorly rotated ears, Scoliosis, Macrotia, Protruding ear ORPHA:2471
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, ... ORPHA:1686
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614862
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Hypoplasia of penis, Situs inversus totalis, Mandibular aplasi... ORPHA:990
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Hydronephrosis, Congenital hip dislocation, Aganglionic megacolon, Anal atr... OMIM:236700
Restrictive Dermopathy
Aplasia/Hypoplasia of the clavicles, Decreased skull ossification, Micrognathia, Dextrocardia, Ar... ORPHA:1662
Meckel Syndrome, Type 7
Postaxial foot polydactyly, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arteriosus... OMIM:267010
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly OMIM:230650
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck, Conductive hearing impairment, Hypoplasia of penis, Aplasia/Hypoplasia of t... ORPHA:3082
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Mesomelia-Synostoses Syndrome
Short umbilical cord, Hydronephrosis, Abnormal vertebral morphology, Micromelia, Microretrognathi... OMIM:600383
Oculocerebrorenal Syndrome Of Lowe
Proteinuria, Abnormal rib morphology, Osteomalacia, Micrognathia, Scoliosis, Protruding ear, Genu... ORPHA:534
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome, Microtia OMIM:141300
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Low-set ears OMIM:618443
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Kyphosis, Nephrolithiasis, Spinal rigidity ORPHA:352447
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Lateral clavicle hook, Preaxial polydactyly, Th... OMIM:615503
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnormality of fibula morphology... ORPHA:352540
Joubert Syndrome 1
Clinodactyly, Renal cyst, Occipital myelomeningocele, Postaxial foot polydactyly, Low-set ears, P... OMIM:213300
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Horseshoe kidney, Hearing impairment, Caud... OMIM:265050
Mucopolysaccharidosis, Type Ivb
Keratan sulfate excretion in urine, Kyphosis, Ovoid vertebral bodies, Cervical subluxation, Hypop... OMIM:253010
Alg1-Cdg
Kyphosis, Nephrotic syndrome, Abnormality of the kidney, Scoliosis, Renal insufficiency ORPHA:79327
Orofaciodigital Syndrome I
Clinodactyly, Proteinuria, Syndactyly, Ovarian cyst, Polycystic kidney dysplasia, Hamartoma of to... OMIM:311200
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Cardiomyopathy, Pneumothorax, Renal in... ORPHA:445038
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Hydronephrosis, Clinodactyly of the 5th finger, Micrognathia,... ORPHA:709
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck, Low-set ears ORPHA:178148
Widow'S Peak Syndrome
Kyphosis, Posteriorly rotated ears, Low-set ears OMIM:314570
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphis... ORPHA:63260
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Scoliosis, Kyphosis, Low-set ears OMIM:615834
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Patent ductus arteriosus, Micrognathia, Multicystic kidney dys... ORPHA:1556
Cornelia De Lange Syndrome
Abnormality of the ulna, Clinodactyly of the 5th finger, Atresia of the external auditory canal, ... ORPHA:199
D-Bifunctional Protein Deficiency
High palate, Renal cyst, Osteopenia, Hammertoe, Low-set ears, Micrognathia, Pectus excavatum, Dec... OMIM:261515
Proteus Syndrome
Asymmetry of the thorax, Clinodactyly of the 5th finger, Scoliosis, Neoplasm of the lung, Hallux ... ORPHA:744
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Scoliosis, Kyphosis, Sensorineural hearing impairment ORPHA:464282
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium OMIM:615524
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dysuria, Hydronephrosis, Osteoporosis, Multicystic kidney dysplasi... ORPHA:79404
Branchio-Oculo-Facial Syndrome
Renal agenesis, High palate, Hydronephrosis, Conductive hearing impairment, Multicystic kidney dy... ORPHA:1297
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Scoliosis, Kyphosis, Hypospadias OMIM:616449
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
C Syndrome
Toe syndactyly, High palate, Horseshoe kidney, Short neck, Sacral dimple, Hypoplasia of the ear c... ORPHA:1308
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Abnormality of the kidney, Platyspondyly, Hydrocephalus, Holoprosencepha... ORPHA:93274
Emanuel Syndrome
Renal agenesis, Recurrent otitis media, Kyphosis, Low-set ears, Micropenis, Renal hypoplasia, Sco... OMIM:609029
Scimitar Syndrome
Abnormality of the vertebral column, Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia... ORPHA:185
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Protruding ear OMIM:300861
Limb Body Wall Complex
Abnormality of the vertebral column, Aplasia of the proximal phalanges of the hand, Abnormal thor... ORPHA:2369
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Neoplasm of the heart, Intestinal malrotation, Megacys... ORPHA:2241
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Short neck, Kyphosis, Anterior beaking of lumbar vertebrae, Anterior beak... OMIM:253220
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal sacrum morphology, Ectopic kidney, Horseshoe kidney, Abnormal... ORPHA:3109
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Hemangiomatosis, Cutaneous, With Associated Features
Abnormality of the vertebral column, Joint laxity, Abnormal vertebral morphology, Phimosis, Joint... OMIM:234800
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Abnormality of the ureter, Craniosynostosis, Bifid uvula, Patent duct... OMIM:145410
Neu-Laxova Syndrome 1
Clinodactyly, Micrognathia, Micromelia, Spina bifida, Ventricular septal defect, Cleft palate, Re... OMIM:256520
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Scoliosis, Kyphosis, Low-set ears ORPHA:352490
Microphthalmia, Syndromic 1
Clinodactyly, Recurrent otitis media, Joint contracture of the hand, High, narrow palate, Rectal ... OMIM:309800
Genitopatellar Syndrome
Brachydactyly, Hypoplastic ischia, Hypoplastic inferior pubic rami, Micropenis, Hydronephrosis, A... OMIM:606170
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Harrod Syndrome
High palate, Malrotation of small bowel, Renal cortical microcysts, Aganglionic megacolon, High, ... OMIM:601095
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Hypospadias, Multi... ORPHA:93111
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cleft vertebral arch, Coronal craniosynostosis, Contracture of the distal interphalangeal joint o... ORPHA:83617
Orofaciodigital Syndrome Type 1
Foot polydactyly, Proteinuria, Hydronephrosis, Clinodactyly of the 5th finger, Cone-shaped epiphy... ORPHA:2750
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis OMIM:619255
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Polycystic kidney dysplasia, Ventricular septal defect, Cleft palate,... OMIM:268300
3C Syndrome
Short neck, Kyphosis, Low-set ears, Optic atrophy, Hydronephrosis, Hypoplasia of penis, Scoliosis... ORPHA:7
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Oeis Complex
Hydronephrosis, 11 pairs of ribs, Sacral segmentation defect, Epispadias, Duplicated colon, Hemiv... OMIM:258040
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Alpha-Mannosidosis
Kyphosis, Short neck, Abnormal helix morphology, Scoliosis, Chronic otitis media, Macrotia, Heari... ORPHA:61
Zimmermann-Laband Syndrome 2
Sensorineural hearing impairment, Kyphosis, Short neck OMIM:616455
Yunis-Varon Syndrome
Absent sternal ossification, Decreased calvarial ossification, Absent middle phalanx of 2nd finge... OMIM:216340
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hyperlordosis, Kyphosis, Polycystic ovaries ORPHA:3085
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Recurrent pneumonia, Reduced renal corticomedullary differentiation, H... ORPHA:731
Jaberi-Elahi Syndrome
Kyphosis, Low-set ears, Scoliosis, Protruding ear, Optic atrophy OMIM:617988
Van Maldergem Syndrome 2