Not currently registered for phenotyping at IMPC

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

Gene Summary

FAT atypical cadherin 4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse... OMIM:224300
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... ORPHA:66637
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic i... OMIM:620076
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Scarf Syndrome
Hepatocellular adenoma, Low-set, posteriorly rotated ears, Craniosynostosis, Abnormal form of the... ORPHA:3134
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Tongue nodules... OMIM:311900
Tarp Syndrome
Rocker bottom foot, Small earlobe, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, ... ORPHA:2886
Prune Belly Syndrome
Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Abnormality of the... ORPHA:2970
Cornelia De Lange Syndrome 1
Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, S... OMIM:122470
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Abnormal hip bone morphology, Vertebral segmentation defect, Vesicouret... ORPHA:1166
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Low-set ears, Short sternum, Bif... ORPHA:2752
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis, Renal cyst,... OMIM:615993
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Anorectal anomaly, Abnormal form of the vertebral bodies, Microtia, Abn... ORPHA:1834
Scarf Syndrome
Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c... OMIM:312830
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Donnai-Barrow Syndrome
Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Hearing impairment, Short... OMIM:222448
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal lung lobation, Abnormal hip bone morphology, Abnormal me... ORPHA:2631
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Low-set ears, Short sternum, Bifid uvula,... OMIM:258850
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Low-set ears, Renal cyst, Pulmonic sten... OMIM:257300
Marshall-Smith Syndrome
Kyphoscoliosis, Short mandibular rami, Optic nerve hypoplasia, Prominent fingertip pads, Glossopt... OMIM:602535
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Microtia, Abnormal sacrum morphology, Abnormal fibula morphology, Polyc... ORPHA:1988
Poland Syndrome
Renal hypoplasia/aplasia, Reduced bone mineral density, Asymmetry of the thorax, Abnormal sternum... ORPHA:2911
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Unilateral renal agenesis, Narrow chest, Hemivertebrae, Vertebral s... OMIM:617661
Joubert Syndrome 18
Kyphoscoliosis, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Pos... OMIM:614815
Ulbright-Hodes Syndrome
Abnormal pinna morphology, Short ribs, Short metacarpal, Mesomelia, Short humerus, Abnormal forea... ORPHA:3404
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Low-set ears, Renal cyst OMIM:614870
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long... ORPHA:93296
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Narrow che... ORPHA:1190
Verheij Syndrome
Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Short 5th finger, Truncus arteriosus, Renal cys... OMIM:615583
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, 2-3 toe syndactyly, Low-set ears, Renal cyst, Ar... OMIM:236500
Enlarged kidney, Decreased skull ossification, Unossified sacrum, Thoracic hypoplasia, Cystic ren... OMIM:608022
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones... OMIM:269150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Cardi... OMIM:616897
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ... OMIM:620113
Metatropic Dysplasia
Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Low-set, posteriorly rotated ea... ORPHA:2635
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormality of the kidney, Patent ductus arteriosus, Abnormal ili... ORPHA:2655
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ... OMIM:312870
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, 2-3 toe synda... OMIM:617866
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Split foot, 1-2 finger syndactyly, Ureteral agenesis... ORPHA:2437
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Distal Triplication 15Q
Abnormal sternum morphology, Sensorineural hearing impairment, Microtia, Kyphosis, Arachnodactyly... ORPHA:314588
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Enlarged kidney, Narrow chest, Encephalocele, Polycystic ki... OMIM:613885
Momo Syndrome
Abnormal bone ossification, Femoral bowing, High palate, Short sternum, Underfolded helix, Congen... ORPHA:2563
Rhyns Syndrome
Osteopenia, Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, H... ORPHA:140976
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasi... ORPHA:3033
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Trans... OMIM:314390
Coffin-Siris Syndrome 1
Duodenal ulcer, Ectopic kidney, Sandal gap, Dislocated radial head, Abnormal pinna morphology, Pr... OMIM:135900
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Turnpenny-Fry Syndrome
Pectus carinatum, Microtia, Thoracic kyphoscoliosis, Pectus excavatum, Prominent interphalangeal ... OMIM:618371
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Abnormal lung lobation, Polycystic kidney dysplasia, Wide anterior ... OMIM:263210
Vacterl/Vater Association
Occipital encephalocele, Ectopic kidney, Anencephaly, Hypoplasia of penis, Anorectal anomaly, Tra... ORPHA:887
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Momo Syndrome
Short sternum, High palate, Underfolded helix, Short neck OMIM:157980
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Low-set, posteriorly rotated ear... ORPHA:1486
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Bilateral renal agenesis, Vertebral segme... OMIM:618845
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Hypospadias, Anencephaly, Abnormal pinna morphology, Post... OMIM:614175
Trisomy 13
Sensorineural hearing impairment, Kyphosis, Multiple renal cysts, Optic atrophy, Scoliosis, Abnor... ORPHA:3378
Turner Syndrome Due To Structural X Chromosome Anomalies
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal pinna morphology... ORPHA:99413
Mosaic Monosomy X
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal pinna morphology... ORPHA:99228
Monosomy X
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal pinna morphology... ORPHA:99226
Turner Syndrome
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal pinna morphology... ORPHA:881
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Stenosis of the external auditory canal, Abnormal ... ORPHA:107
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Ectopic kidney, Abnormal iliac wing morph... ORPHA:3027
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Hypoplastic pelvis,... ORPHA:750
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Pectus excavatum, Radioulnar synostosis, Protruding ear, Multicystic kidney ... ORPHA:3270
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Sensorineural hearing impairment, Kyphosis ORPHA:2744
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pectus excavatum, Intestinal malrotation, Overlapping toe, Long toe, Hypospadias, Scoliosis, Pate... OMIM:618316
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal r... ORPHA:261197
Branchiootorenal Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Intestinal malrotation, Bif... OMIM:113650
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Abnormal lung lobation, Hydrocephalus, Microtia, Aplasia/Hypoplasia involving the ... ORPHA:3301
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Low-set ears, Renal cyst, Micrognathia, Cleft p... OMIM:231060
Acro-Renal-Mandibular Syndrome
Renal hypoplasia/aplasia, Pectus carinatum, Kyphosis, Tracheoesophageal fistula, Split foot, Hip ... ORPHA:958
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Unilateral renal agenesis, Meningocele, Scoliosis, High palate, Pectus exc... OMIM:620511
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop... OMIM:117650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Short long bone, Flat acetabular roof, Mesomelia, Syndactyly, Short distal phalanx of... OMIM:614091
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short ribs, Short long bone, Intestinal malrotation, Cyst... OMIM:269860
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Low-set ears, Bowing... ORPHA:85166
Mosaic Trisomy 9
Rocker bottom foot, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Hip disloc... ORPHA:99776
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Myelomen... ORPHA:90652
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Encephalocele, Scoliosis, Postaxial hand polydactyly, Renal cyst, ... OMIM:611560
Say Syndrome
Tapered finger, Macrotia, Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short dist... OMIM:181180
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Intestinal malrotation, Crowd... OMIM:102500
Campomelia, Cumming Type
Abnormal intestine morphology, Pancreatic cysts, Abnormally ossified vertebrae, Abnormal rib morp... ORPHA:1318
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotatio... OMIM:613091
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfly vertebrae, Hypopla... OMIM:200980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Short ribs, Hypoplastic ischia, Abnormal heart morphology, Encephalocele, Hydroc... ORPHA:1865
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Fetal pyelectasis, Pulm... OMIM:616531
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Anal atresia, Hydronephrosis, ... OMIM:613390
Marden-Walker Syndrome
Abnormal sternum morphology, Kyphosis, Arachnodactyly, Hypospadias, Scoliosis, Camptodactyly, Con... OMIM:248700
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Abnormality of the internal au... ORPHA:73
Braddock-Carey Syndrome 1
Anteriorly placed anus, Hyperlordosis, Camptodactyly, Macrotia, Cleft palate, Posteriorly rotated... OMIM:619980
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Pulmonary hypoplasia, Multicystic kidney dysplasia ORPHA:3032
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebra... OMIM:276950
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Tracheomalacia, Meningocele, Hydranencephaly,... ORPHA:1393
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Micro... OMIM:241800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Vertebral segmentation defect, Abnormal rib morphology, Renal agenesis, Hearing i... ORPHA:2578
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavat... ORPHA:2461
Isolated Polycystic Liver Disease
Back pain, Gastrointestinal hemorrhage, Multiple renal cysts, Gastroesophageal reflux ORPHA:2924
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Mosaic Trisomy 16
Meckel diverticulum, Abnormal heart morphology, Syndactyly, Clinodactyly, Abnormal thorax morphol... ORPHA:1708
Pallister-Hall Syndrome
Ectopic kidney, Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesome... OMIM:146510
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Aqueductal stenosis, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Trisomy 20P
Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies... ORPHA:261318
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Anal stenosis, Bell-shaped thorax, ... OMIM:613686
Trisomy 17P
Clinodactyly of the 5th finger, Patent ductus arteriosus, Hypoplasia of penis, Hydrocephalus, Pol... ORPHA:261290
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Bicuspid aortic valve, Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesoph... OMIM:301111
Pentalogy Of Cantrell
Abnormal tibia morphology, Hypospadias, Anencephaly, Encephalocele, Hydrocephalus, Abnormal stern... ORPHA:1335
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Sco... OMIM:615398
Mosaic Trisomy 1
Rocker bottom foot, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Long toe, Deviation... ORPHA:1692
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus, Polycystic kidney dysplasia, Shor... OMIM:616546
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Wide anterior fontanel, Low-set ears, Epiphyseal stippling OMIM:614859
Narrow greater sciatic notch, Short ribs, Femoral bowing, Trident hand, Thoracic hypoplasia, Lumb... OMIM:100800
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Flared metaphysis, Hydroceph... OMIM:187600
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Multiple Pterygium Syndrome, X-Linked
Short finger, Hypoplastic heart, Thin ribs, Low-set ears, Micrognathia, Cleft palate, Pulmonary h... OMIM:312150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Pectus carinatum, Short ribs, Short long bone, Intestin... OMIM:263520
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Optic disc pallor, Death in infancy, Neonatal death, Cystic renal dysplasia OMIM:613730
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Scoliosis, Kyphosis, Hearing impairment, Optic disc pallor OMIM:617087
Harrod Syndrome
Protruding ear, Abnormal shoulder morphology, Hypospadias, Scoliosis, High palate, Abnormal pelvi... ORPHA:2115
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Radio-Renal Syndrome
Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, Abnormal form of the ver... ORPHA:3015
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Ectopic kidney, Abnormality of the vertebral column, 2-3 toe synda... OMIM:239800
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Hyperlordosis, Shor... OMIM:272460
Meier-Gorlin Syndrome 7
Dislocated radial head, Sensorineural hearing impairment, Microtia, Clubbing, Joint hypermobility... OMIM:617063
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin... ORPHA:93315
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Scoliosis, Postaxial hand polydactyly, Low-set ears, Kyphosis, Microg... ORPHA:2075
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A... ORPHA:2839
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Internally rotated should... OMIM:617468
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly... ORPHA:2091
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Microtia, Pectus excavatum, Intestinal malrotation, Arachnodactyly, P... OMIM:300373
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Abnormal form of the ver... ORPHA:464329
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Spin... ORPHA:2311
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Abnormal finger morphology, Amelia, Oligodactyly, Tracheoesophageal fis... ORPHA:2538
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Renal cyst OMIM:614465
Multiple Pterygium Syndrome, Lethal Type
Short finger, Hypoplastic heart, Thin ribs, Low-set ears, Micrognathia, Cleft palate, Pulmonary h... OMIM:253290
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum... OMIM:308050
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Trisomy X
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Joint ... ORPHA:3375
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Hypospadias, Abnormal metacarpal morphol... ORPHA:2319
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Trisomy 1Q
Congenital megaureter, Short thorax, Hydrocephalus, Abnormality of the outer ear, Low-set ears, A... ORPHA:261344
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Facial diplegia, Pectus excavatum, Cochlear malformation, C... ORPHA:96148
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Short ribs, Hemivertebrae, Thin ribs, Missing ribs, Rib fusion, Anal atresia, Hydronep... OMIM:271520
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Absent... OMIM:134780
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Polycystic kidney dysplasia, Postaxial hand polydactyly, B... OMIM:619879
Fetal Akinesia Deformation Sequence 4
Low-set ears, Prenatal death, Kyphosis, Neonatal death, Posteriorly rotated ears, Short neck OMIM:618393
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Short ribs, Hypoplastic pelvi... ORPHA:2092
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Hypoplastic left heart ORPHA:3316
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Mixed hearing impairment, Repeated pneumothoraces, Pectus carinatum, Pectus excav... ORPHA:536467
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Abnormal thumb morphology, Bicuspid aortic valve, Atrioventricular canal ... ORPHA:1120
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Craniosynostosis, Extrapulmonary lobar sequestration, Hypoplasia of the small in... OMIM:200995
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Tibial bowing, Abnormal heart morphology, Dysphagia, Umbilical herni... ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Hypospadias, Hypoplasia of penis, Hydrocephalus,... ORPHA:77298
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Decreased skull oss... ORPHA:2141
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the... OMIM:611134
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Occipital encephalocele, Short ribs, Abnormal optic disc morphology, A... ORPHA:397715
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi... OMIM:229850
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Microtia, E... OMIM:617925
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Fryns Syndrome
Intestinal malrotation, Short distal phalanx of finger, Abnormal cardiac septum morphology, Agang... ORPHA:2059
Vacterl With Hydrocephalus
Hypoplasia of the radius, Aqueductal stenosis, Renal hypoplasia/aplasia, Esophageal atresia, Abno... ORPHA:3412
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Pectus excavatum, Nephrocalcinosis, Abnormal heart morphology, Joint hypermobility, Craniosynosto... ORPHA:369837
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hearing impairment, R... ORPHA:1475
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Sensorineural hearing impairment, Scoliosis, Vesicoureteral reflux, ... OMIM:120330
Severe Congenital Nemaline Myopathy
Hypospadias, Thin ribs, Facial diplegia, Low-set ears, Facial palsy, Multiple prenatal fractures,... ORPHA:171430
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Polycystic kidney dysplasia, Low-set ears, Kyphosis, Pericardial effusion, Short... OMIM:608776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Ventricular septal def... OMIM:617895
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Hypoplasia of penis, Pectus carin... ORPHA:1507
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Aplasia/Hypoplas... ORPHA:2876
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Renal tubular acidosis, Renal cyst, Death in infancy, Hearing imp... OMIM:614922
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Flexion contracture OMIM:617562
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Microtia, Pulmonic stenosis, Long ... OMIM:608149
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p... ORPHA:2990
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... OMIM:603194
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Incomplete partition of the cochlea type II, Sensorineural hearing impairmen... OMIM:617660
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst, Spontaneous pneumothorax, Large intestinal poly... OMIM:135150
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Abnormally ossified ve... ORPHA:1427
Lethal Congenital Contracture Syndrome 10
Narrow palate, Adducted thumb, Stiff neck, Narrow chest, Short long bone, Femoral bowing, Low-set... OMIM:617022
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Hearing impairment, Pulmonary hypoplasia, Flexio... OMIM:616733
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morpholog... ORPHA:2473
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Kyphosis, Macrotia, Scheuermann-like vertebral changes... OMIM:301900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Sensorineural hearing impairm... OMIM:220500
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Low-set e... ORPHA:85284
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Amelia, Low-set ears, Decreased skull ossification, Intestinal ma... OMIM:601163
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Genitopatellar Syndrome
Knee flexion contracture, Gastroesophageal reflux, Low-set ears, Hypoplastic ilia, Hypoplastic is... ORPHA:85201
Kleefstra Syndrome
Chronic otitis media, Hypoplasia of penis, Bicuspid aortic valve, Thickened helices, Hypospadias,... ORPHA:261494
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Joint hypermobility, Genu va... OMIM:224690
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Hajdu-Cheney Syndrome
Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis, Biconcave verte... ORPHA:955
Osteopenia, Abnormality of the gastrointestinal tract, Neural tube defect, Abnormal pinna morphol... ORPHA:79321
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Alveolar Echinococcosis
Abnormal vertebral morphology, Abnormal sternum morphology, Abnormal bladder morphology, Bone cys... ORPHA:284
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Camptodactyly, Flexion contracture of finger, Flexion contracture, Mic... OMIM:617194
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Hydrocephalus, Low-set... OMIM:300514
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Intestinal duplication, Abnormal sacrum morpholog... ORPHA:1756
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... OMIM:265000
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Generalized osteosclerosis, Short... OMIM:215045
C Syndrome
Radial deviation of finger, Fused sternal ossification centers, Renal cortical cysts, Dislocated ... OMIM:211750
2Q37 Microdeletion Syndrome
Clinodactyly of the 5th finger, Joint hypermobility, Tracheomalacia, Finger syndactyly, Short met... ORPHA:1001
Polysyndactyly With Cardiac Malformation
Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cyst... OMIM:263630
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
15q26 overgrowth syndrome
Sensorineural hearing impairment, Abnormal finger morphology, Abnormal pinna morphology, Arachnod... DECIPHER:81
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Aortic valve stenosis, Arachnodactyly, Polydactyly, Hypospadias, Pelv... ORPHA:464306
Esophageal Atresia
Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Abno... ORPHA:1199
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Nabais Sa-De Vries Syndrome, Type 2
Clinodactyly of the 5th finger, Gastroesophageal reflux, Bilateral cleft palate, Microtia, Low-se... OMIM:618829
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Meningoce... ORPHA:2031
Cystic Echinococcosis
Abnormality of the vertebral column, Bone cyst, Abnormal subpleural morphology, Renal cyst, Abnor... ORPHA:400
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial han... OMIM:615994
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Patellar hypoplasia, Low-set ears, Ureteral stenosis, Micrognathia, S... ORPHA:2257
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Spinal rigidity, Decreased compound muscle action potential amplitude, Kyphosis OMIM:618323
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles, Short thorax, ... ORPHA:50945
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Narrow chest, Craniosynostosis, Oligodactyly, Low-set ears, Missing ribs, Mi... OMIM:251230
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Galactosuria, Clinodactyly of the 2nd finger, G... ORPHA:251061
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger, Hypospadias, Pe... ORPHA:464311
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Scoliosis, Abnormal nerve conduction velocity, Kyphosis ORPHA:101075
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hearing impairment, Optic atrophy, Neonatal death, Kyphosis OMIM:618237
Osteogenesis Imperfecta
Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral... ORPHA:666
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Cochlear malformation, Neph... ORPHA:2044
Infantile Myofibromatosis
Abnormal metaphysis morphology, Abnormality of the kidney, Intestinal obstruction, Bone cyst, Abn... ORPHA:2591
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Esophageal v... OMIM:216360
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal sternum morphology, Abnormal gastrointestinal tract morphology, Pul... ORPHA:2847
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia,... ORPHA:97360
Fetal Akinesia Deformation Sequence
Scoliosis, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Mi... ORPHA:994
Raine Syndrome
Mixed hearing impairment, Subperiosteal bone formation, Abnormal pinna morphology, Pectus excavat... OMIM:259775
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Short long bone, Bowing of the long bones, Anisospondyly, Micromelia, Mi... OMIM:224410
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Short metacarpal, Renal cyst, Macrotia, Micrognathia, Brachydactyly, Metaphyseal ch... ORPHA:166035
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal... OMIM:611561
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Sensorineural hearing impairment, Scoliosis, Vesicoureteral ... OMIM:618460
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Pe... ORPHA:536471
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Bilobed right lung, Aplasia of the bladder, ... OMIM:612284
Joubert Syndrome 14
Optic atrophy, Encephalocele, Meningocele, Hydrocephalus, Low-set ears, Renal cyst, Postaxial pol... OMIM:614424
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short metacarpal, Renal cyst, Macrotia, Micrognathia, Metaphyseal dysplasia, Brachy... OMIM:250410
Agnathia-Otocephaly Complex
Situs inversus totalis, Tracheomalacia, Synotia, Low-set ears, Mandibular aplasia, Conductive hea... OMIM:202650
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Intestinal malrotation, Aortic valve stenosis, Abnormality... ORPHA:2308
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Scoliosis, Vesicoureteral reflux, L... OMIM:618454
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Finger syndactyly, Fetal megacystis, Low-set ears, Arachnodactyly,... ORPHA:73246
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Gout, Nephropathy, Chronic kidney disease OMIM:617056
Joubert Syndrome 35
Recurrent urinary tract infections, Pectus carinatum, Low-set ears, Renal fibrosis, Hydronephrosi... OMIM:618161
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Short distal phalanx of finger, Abnormal ilium morphology, Cleft palate, Po... OMIM:614080
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Abnormal vertebral morphology, Atrioventricular canal defect, Aganglioni... ORPHA:210122
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease... ORPHA:18
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Micrognathia, Pulmonary hypoplasia, Arthrogryposis multiplex c... OMIM:253310
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Intestinal malrotation, Bifid uvula, Overlapping toe, Hip dislocatio... OMIM:270400
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short hu... OMIM:210710
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Facial diplegia, Low-set ears, Kyphosis, Neonatal death, Short neck OMIM:611890
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Urethral stenosis, Long toe, Stage 5 chronic kidney disease, Scoliosis, Short palm,... OMIM:614527
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Scoliosis, Decreased nerve conduction velocity, Kyphosis ORPHA:101078
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Sandal gap, Optic nerve hypoplasia, Scoliosis, Enlarged thorax, Low-set ears, Pect... ORPHA:261349
Fraser Syndrome 1
Renal hypoplasia/aplasia, Abnormal middle ear morphology, Abnormal pinna morphology, Myelomeningo... OMIM:219000
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Abnormal form of the ... ORPHA:818
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia... OMIM:615524
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Scoliosis, Vertebral segmentation defect, Microtia, Pectus excavatum, Low-set ears, H... OMIM:612530
Townes-Brocks Syndrome
Ectopic kidney, Hypoplasia of penis, Absent toe, Abnormal pinna morphology, Microtia, Broad thumb... ORPHA:857
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistul... OMIM:107480
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Dys... OMIM:616867
Zellweger Syndrome
Optic atrophy, Hypospadias, Epiphyseal stippling, Wide anterior fontanel, Sensorineural hearing i... ORPHA:912
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Scapular winging, Low-set ears, Renal cyst, Clinodactyly, Down-sloping ... OMIM:615560
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Hypospadias, Kyphosis ORPHA:1548
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Bell-shaped thorax, Encephalocele, Sensori... OMIM:615636
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Cranioectodermal Dysplasia 2
Short ribs, Pectus excavatum, Mesomelia, Syndactyly, Left ventricular hypertrophy, Joint hypermob... OMIM:613610
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndact... ORPHA:1112
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Proximal tubulopathy, Cardiomyopathy, Kyphosis, Renal cyst, Nephrotic sy... OMIM:212065
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ... OMIM:192350
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Wide anterior fontanel, Hyperlordosis, Hepatic pe... ORPHA:26791
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Posteriorly rotated ears, Kyphosis OMIM:618392
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Clinodactyly of the 5th finger, Hypospadias, C1-C2 vertebra... ORPHA:96179
Narrow greater sciatic notch, Enlarged kidney, Abnormal bone ossification, Short long bone, Abnor... ORPHA:79328
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Femoral bowing, Truncus arterios... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Congenital Myopathy 1B, Autosomal Recessive
Scoliosis, High palate, Facial palsy, Pulmonary hypoplasia, Joint hypermobility, Recurrent respir... OMIM:255320
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Low-set ears, Kyphosis, Abnormality of the ... ORPHA:2522
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Polycystic kidney dysplasia, Wide anterior fontanel, Sensorineural hearing impairment... OMIM:610199
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Hypoplastic left atrium, Pelvic kidney, Alveolar capillary dysplasia, Tr... OMIM:601186
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Pectus excavatum, Thoracic hypoplasia, Scoliosis, Elbow flexion contracture, Tho... OMIM:620369
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Multiple renal cysts, Renal cyst OMIM:614883
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transp... OMIM:619148
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Sacral dimple, Kyphosis, Umbilical hernia, Nephroblastoma OMIM:618272
Tonne-Kalscheuer Syndrome
Hypospadias, Broad thumb, Micrognathia, Abnormal heart morphology, Velopharyngeal insufficiency, ... OMIM:300978
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Pectus excavatum, Broad thumb, Umbilic... ORPHA:373
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sensorineural hearing impairment, Abnormal pinna morphology, Syndactyly, Optic atrophy, Hypospadi... OMIM:616975
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Rectovaginal fistula, Kyphosis, Inflammation of the large intestine, Micrognathia,... OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Low-set ears, Kyphosis OMIM:615761
Pagod Syndrome
Abnormal clavicle morphology, Situs inversus totalis, Optic atrophy, Renal hypoplasia/aplasia, En... ORPHA:991
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Sensorineural hearing impairment, Renal cortical microcysts, Dysphagia, Hypos... OMIM:214100
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Macrotia, Scoliosis, Hydronephrosis, Kyphosis OMIM:619797
Distal Deletion 12Q
Kyphoscoliosis, Ectopic kidney, Microtia, Aplasia/Hypoplasia of the middle phalanx of the 3rd fin... ORPHA:96149
Serkal Syndrome
Hypospadias, Ventricular septal defect, Renal agenesis, Pulmonic stenosis, Pulmonary hypoplasia, ... ORPHA:139466
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Short thorax, Postaxial hand polydactyly... ORPHA:93271
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis OMIM:617404
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Truncus arteriosus, Low-set ears, Renal cyst, Tetralogy of Fallot, Partial ano... OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Lacticaciduria OMIM:619003
Masa Syndrome
Hydrocephalus, Hyperlordosis, Kyphosis OMIM:303350
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Low-set ears, Kyphosis, Macrotia, Micropenis OMIM:615433
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Unilateral renal... OMIM:184705
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Enlarged kidney, Protruding ear, Spina bifida occulta, Abnormal right ... ORPHA:500095
1P36 Deletion Syndrome
Hypoplasia of penis, Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, K... ORPHA:1606
Roberts Syndrome
Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Ab... ORPHA:3103
Congenital Myopathy 17
Overlapping fingers, Narrow chest, Tapered finger, Pectus excavatum, Low-set ears, High palate, R... OMIM:618975
Tetrasomy 5P
Clinodactyly of the 5th finger, Recurrent respiratory infections, Short hallux, Hydrocephalus, Wi... ORPHA:3309
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Mu... OMIM:607361
Cloacal Exstrophy
Abnormal fibula morphology, Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Abnormal tibia... ORPHA:93929
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Trisomy 10P
Abnormality of the kidney, Rectovaginal fistula, Gastroesophageal reflux, Thumb contracture, Hemi... ORPHA:171929
Penile Agenesis
Atrial septal defect, Rectal fistula, Hydroureter, Bilateral lung agenesis, Anorectal anomaly, Ab... ORPHA:49
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Spina bifida occulta, Hypoplasia of penis, Microtia, Kyphosis,... ORPHA:2983
Sandhoff Disease
Hearing impairment, Kyphosis ORPHA:796
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Protruding ear, Sacral dimple, Clinodactyly of the 5th finger, Gastroe... OMIM:606232
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia OMIM:613124
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Small earlobe, Multiple sut... ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Tapered toe, Cardiomegaly, Long-chain dicar... OMIM:608836
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Renal Agenesis, Bilateral
Sirenomelia, Abnormal intestine morphology, Low-set ears, Tracheoesophageal fistula, Renal agenes... ORPHA:1848
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Mitral valve prolapse, Hepatic cysts, Renal ins... OMIM:173900
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Alagille Syndrome 1
Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypoplasia of the ulna, Renal tub... OMIM:118450
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C... ORPHA:480536
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Scolio... ORPHA:1454
Sialidosis Type 2
Hearing impairment, Nephropathy, Kyphosis, Umbilical hernia ORPHA:87876
Cardiospondylocarpofacial Syndrome
Congenital sensorineural hearing impairment, Dysplastic tricuspid valve, Joint hypermobility, Con... OMIM:157800
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Tetrasomy 9P
Abnormal earlobe morphology, Aplasia/Hypoplasia of the clavicles, Abnormal mitral valve morpholog... ORPHA:3310
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Hearing impairment, Abnorma... ORPHA:488618
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Autosomal Recessive Spastic Paraplegia Type 53
Hearing impairment, Abnormal auditory canal morphology, Kyphosis ORPHA:319199
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Scoliosis, Kyphosis, Hearing impairment ORPHA:99014
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog... ORPHA:794
Crouzon Syndrome
Optic atrophy, Narrow palate, Hydrocephalus, Multiple suture craniosynostosis, Hearing impairment... ORPHA:207
Sillence Syndrome
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Polycystic kidney dysplasia, Abnormal helix morphology, Camptodactyly, Met... OMIM:214110
Meier-Gorlin Syndrome 3
Hypospadias, Patellar hypoplasia, Absent sternal ossification, Short thorax, Slender long bone, N... OMIM:613803
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Tricuspid ... ORPHA:185
Distal Deletion 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Hypospadias, Epiphyseal stippling, Polycystic kidney dyspla... OMIM:614866
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Sensorineural hearing impairment, Microtia, Underdevelop... OMIM:164210
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Matthew-Wood Syndrome
Vesicoureteral reflux, Low-set ears, Renal hypoplasia, Abnormal lung morphology, Duodenal stenosi... ORPHA:2470
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Proximal tubulopathy, Renal cyst, Villous atrophy OMIM:602579
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Hypospadias, Renal cyst, Syndactyly OMIM:605231
Restrictive Dermopathy
Ureteral duplication, Thoracic kyphoscoliosis, Decreased skull ossification, Microcolon, Aplasia/... ORPHA:1662
Restrictive Dermopathy 1
Kyphoscoliosis, Rocker bottom foot, Ureteral duplication, Overtubulated long bones, Hypospadias, ... OMIM:275210
Winchester Syndrome
Kyphosis OMIM:277950
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Scoliosis, Abnormal autonomic nervous system physiology, Kyphosis, Hearing impairment OMIM:610743
Genitopatellar Syndrome
Hypoplastic ischia, Dysphagia, Malrotation of small bowel, Scoliosis, Hearing impairment, Short p... OMIM:606170
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Cervical myelopathy, Keratan sulfate excre... OMIM:253000
Joubert Syndrome 2
Nephronophthisis, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Low-set ears, Renal c... OMIM:608091
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Syndact... OMIM:249000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Anal atresia, Tracheoesophageal ... ORPHA:2973
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Abnormal heart morphology, Mitral valve... ORPHA:1686
Williams Syndrome
Chronic otitis media, Hypoplasia of penis, Abnormal form of the vertebral bodies, Sensorineural h... ORPHA:904
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Aganglionic megacolon, Vesicoureteral reflux, Kyphosis, Renal agenesis... ORPHA:261222
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Protruding ear, Scoliosis, Kyphosis ORPHA:85317
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Intest... ORPHA:1052
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Sensorineural hearing impairment, Renal cyst OMIM:601539
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal form of the verteb... ORPHA:3109
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Cardiomyopathy, High palate, Multiple prenatal fractures, Secundum atrial s... OMIM:616866
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the earlobes, Kyphosis, Abnormality of the ureter, Sho... ORPHA:3409
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Rectal prolapse, Multiple bladder diverticula, Emphysema, Atelectasis, Sandal gap, Tr... OMIM:613177
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Renal cyst, Dark urine, Fat malabsorption ORPHA:79303
Spastic Paraplegia 46, Autosomal Recessive
Hearing impairment, Scoliosis, Urinary incontinence, Kyphosis OMIM:614409
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Polycystic kidney dysplasia, Pancr... OMIM:208540
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Pulmonary hypoplasia, Hydrocephalus OMIM:618174
Ck Syndrome
Scoliosis, Hyperlordosis, Posteriorly rotated ears, Kyphosis OMIM:300831
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Polycystic kidney dysplasia, Osteopenia, Spinal canal stenosis ORPHA:35125
Joubert Syndrome 1
Postaxial hand polydactyly, Low-set ears, Renal cyst, Optic disc pallor, Occipital myelomeningoce... OMIM:213300
Abnormality of the kidney, Scoliosis, Kyphosis, Nephrotic syndrome, Renal insufficiency ORPHA:79327
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Cardiomy... ORPHA:3472
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Fraser Syndrome
Renal hypoplasia/aplasia, Anorectal anomaly, Hypoplasia of penis, Abnormal pinna morphology, Micr... ORPHA:2052
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Microphthalmia, Syndromic 1
Kyphoscoliosis, Renal hypoplasia/aplasia, Radial deviation of finger, Abnormal pinna morphology, ... OMIM:309800
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Anal atre... ORPHA:411709
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Pulmonic stenosis, Umbilical hernia, Abnormal car... ORPHA:709
3-Methylglutaconic Aciduria Type 7
Pneumothorax, 3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Nephrocalcinosis, Renal in... ORPHA:445038
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Kyphosis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Umbilica... ORPHA:534
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Kyphosis, Macrotia, Protruding ear ORPHA:2471
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal vertebral morphology, Abnormal femur morphology, Renal phosp... ORPHA:352540
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Pancreatic cysts, Aortic... OMIM:267010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Recurrent urinary tract infections, Polycystic kidney dyspl... OMIM:613095
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Low-set ears, Kyphosis ORPHA:178148
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne... OMIM:236700
Orofaciodigital Syndrome I
Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Ovarian cyst, Syndactyly... OMIM:311200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal ... ORPHA:3082
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614862
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Bilateral lung agenesis, Low-set ears, Renal agenesis, Pulmonary artery stenosis, Co... OMIM:611812
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Perimembranous ventricular septal defect, Fused cervical vertebrae, Thin ribs, Lo... ORPHA:83617
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Osteoporosis, Urethra... ORPHA:79404
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu... OMIM:618280
Limb Body Wall Complex
Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology... ORPHA:2369
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Hydrocephalus, Scoliosis, Vesicoureteral reflux, Low-set ears, Kyphosi... OMIM:619951
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:615290
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Abnormal... ORPHA:990
Neu-Laxova Syndrome
Rickets, Osteopenia, Scoliosis, Osteoporosis, Micromelia, Spina bifida, Macrotia, Micrognathia, B... ORPHA:2671
Hemifacial Atrophy, Progressive
Microtia, Horner syndrome, Kyphosis OMIM:141300
D-Bifunctional Protein Deficiency
Osteopenia, Decreased nerve conduction velocity, Hammertoe, Split hand, Pectus excavatum, Renal c... OMIM:261515
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Nephrolithiasis, Kyphosis, Neuropathic spinal arthropathy ORPHA:352447
Thauvin-Robinet-Faivre Syndrome
Protruding ear, Sensorineural hearing impairment, Ventricular septal defect, Renal cyst, Macrotia... OMIM:617107
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Pectus excavatum, Dysphagia, Umbilical hern... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Protruding ear, Scoliosis, Kyphosis OMIM:300861
Cutis Marmorata Telangiectatica Congenita
Reduced bone mineral density, Finger syndactyly, Scoliosis, Short lower limbs, Micrognathia, Disp... ORPHA:1556
Arima Syndrome
Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kid... OMIM:243910
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Ectopic kidney, Spina bifida occulta, Abnormal for... ORPHA:233
Cornelia De Lange Syndrome
Proximal placement of thumb, Hypoplasia of penis, Sensorineural hearing impairment, Oligodactyly,... ORPHA:199
Proteus Syndrome
Macrodactyly, Bronchogenic cyst, Enlarged kidney, Asymmetry of the thorax, Abnormal form of the v... ORPHA:744
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Low-set ears, Kyphosis, Umbilical hernia OMIM:615834
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Persistent cloaca, Vertebral clefting, ... OMIM:615709
Optic atrophy, Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, A... ORPHA:538
Mesomelia-Synostoses Syndrome
Short umbilical cord, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal... OMIM:600383
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, High palate, Renal agenesis, Conduc... ORPHA:1297
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Scoliosis, Urinary incontinence, Kyphosis ORPHA:464282
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Hypospadias, Abnormality... OMIM:265050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Arthritis, Renal cell carc... ORPHA:93111
Kabuki Syndrome 1
Prominent fingertip pads, Intestinal malrotation, Recurrent aspiration pneumonia, Joint hypermobi... OMIM:147920
Orofaciodigital Syndrome Type 1
Chronic otitis media, Reduced bone mineral density, Tongue nodules, Cone-shaped epiphysis, Tarsal... ORPHA:2750
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Low-set ears, Kyphosis, Umbilical hernia ORPHA:352490
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Encephalocele, Hydrocephalus, Kyphosis, Hearing impairment, Holoprosen... ORPHA:93274
Spondylospinal Thoracic Dysostosis
Short thorax, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Low-set ears, Pulmonary hypoplasia, Proteinuria, Renal dysplasia OMIM:191830
Emanuel Syndrome
Sacral dimple, Recurrent otitis media, Unilateral renal agenesis, Hydrocephalus, Recurrent urinar... OMIM:609029
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, 2-3 ... OMIM:620025
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Oeis Complex
Myelomeningocele, Intestinal malrotation, Absence of the sacrum, Hydrocephalus, Pelvic kidney, He... OMIM:258040
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis OMIM:619255
Fetal Akin