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Gene: Fat4 MGI:3045256

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Dysosteosclerosis
Short diaphyses, Optic atrophy, Micrognathia, Sclerotic scapulae, Hypoplastic vertebral bodies, F... OMIM:224300
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M... ORPHA:66637
Tarp Syndrome
Short sternum, Postaxial polydactyly, High palate, Optic atrophy, Microtia, Hypoplasia of the rad... OMIM:311900
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Scarf Syndrome
Short sternum, Perineal hypospadias, Hepatocellular adenoma, Short neck, Joint hyperflexibility, ... ORPHA:3134
Tarp Syndrome
Abnormal antihelix morphology, Optic atrophy, Micrognathia, Pulmonary hypoplasia, Prominent antih... ORPHA:2886
Prune Belly Syndrome
Congenital posterior urethral valve, Abnormality of the bladder, Pectus excavatum, Abnormality of... ORPHA:2970
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Ventricular septal defect, Renal hypoplasia/aplasia, Vertebral segmentatio... ORPHA:1166
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... OMIM:186500
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Conductive hearing impairment, Optic atrophy, Micrognathia, Elbow flexion con... OMIM:122470
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Bardet-Biedl Syndrome 16
Polydactyly, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis me... OMIM:615993
Orofaciodigital Syndrome Type 3
Short sternum, Lobulated tongue, Thoracic kyphosis, Stage 5 chronic kidney disease, Bifid uvula, ... ORPHA:2752
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormality of the ureter, Short neck, Abnormal intestine morphology, Abnormality o... ORPHA:1834
Scarf Syndrome
Short sternum, Perineal hypospadias, Coronal craniosynostosis, Barrel-shaped chest, Short neck, P... OMIM:312830
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Pulmonary hypoplasia, Nephronophthisis, Polycystic ki... OMIM:184260
Donnai-Barrow Syndrome
Short sternum, Non-acidotic proximal tubulopathy, Sensorineural hearing impairment, Wide anterior... OMIM:222448
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Orofaciodigital Syndrome Iii
Short sternum, Bifid tongue, Kyphosis, Tongue nodules, Bifid uvula, Postaxial foot polydactyly, P... OMIM:258850
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Short sternum, Multicystic kidney dysplasia, Micrognathia, Pulmonic stenosis, Hyd... OMIM:257300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Abnormal lung lobation, Abnormal metacarp... ORPHA:2631
Femoral-Facial Syndrome
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Hip dysplasia, Poly... ORPHA:1988
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Marshall-Smith Syndrome
Bilateral conductive hearing impairment, Hallux valgus, Recurrent aspiration pneumonia, Atlantoax... OMIM:602535
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, 2-3 toe syndactyly, Renal dysplasia, Clinodactyly of the 5th finger, Pulmonary... OMIM:236500
Verheij Syndrome
Vertebral fusion, Short 5th finger, Abnormal cardiac septum morphology, Renal agenesis, Hip dislo... OMIM:615583
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Bardet-Biedl Syndrome 10
Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Kyphosis, Scoliosis, Optic disc pallor, Hearing impairment OMIM:617087
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Joubert Syndrome 18
Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Joint laxity, Renal ... OMIM:614815
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, 11 pairs of ribs, Rhizomelia, Narrow chest, Vertebral segmentation defe... OMIM:617661
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Pneumothorax, Humeroradial synostosis, Micrognathia, Pulmonary hyp... ORPHA:3404
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Low-set ears, Neonatal death OMIM:614870
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Sclerosis... OMIM:269150
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal rib morphology, Abnormal metaph... ORPHA:2635
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal long bone morphology, Hypoplastic ilia, Osteopenia, Small ... ORPHA:140976
Diaphanospondylodysostosis
Thoracic hypoplasia, Micrognathia, Narrow pelvis bone, Pulmonary hypoplasia, Short neck, Absent i... OMIM:608022
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Polycystic kidney dysplasia, ... OMIM:617866
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Pectus... OMIM:312870
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal ossification involvi... ORPHA:1190
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Short sternum, Patent foramen ovale, High palate, Clinodactyly of the 4... OMIM:620113
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, S... OMIM:613885
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Distal Tetrasomy 15Q
Flexion contracture, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Cupped ear, Nephroblastom... ORPHA:314588
Momo Syndrome
Short sternum, Abnormal bone ossification, High palate, Underfolded helix, Congenital pseudoarthr... ORPHA:2563
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Kyphosis, Abnormal mitral valve ... ORPHA:1354
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Short femur, Pleura... OMIM:616897
Meckel Syndrome, Type 10
Sacral dimple, Anencephaly, Bifid uvula, Camptodactyly, Postaxial foot polydactyly, Renal cyst, H... OMIM:614175
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Joint hyperflexibi... ORPHA:3033
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short ribs, Delayed vertebral os... ORPHA:93296
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Thanatophoric Dysplasia
Patent ductus arteriosus, Short thorax, Kyphosis, Abnormal metaphysis morphology, Narrow chest, A... ORPHA:2655
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Short neck, Limb undergrowth, Cleft pala... OMIM:256050
Czeizel-Losonci Syndrome
Hypoplastic helices, 2-3 finger syndactyly, Micrognathia, Pulmonary hypoplasia, Spina bifida occu... ORPHA:2437
Coffin-Siris Syndrome 1
Coxa valga, Spina bifida occulta, Dislocated radial head, Cleft palate, Hearing impairment, Aplas... OMIM:135900
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Wide anterior fontanel, Short long bone, Micrognathia, Polycystic kidney dys... OMIM:263210
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Abnormal cortical bone morphology, Craniofacial hyperostosis, G... ORPHA:2790
Vacterl/Vater Association
Abnormal cardiac septum morphology, Abnormal rib morphology, Cleft palate, Abnormality of the ure... ORPHA:887
Momo Syndrome
Short sternum, Short neck, High palate, Underfolded helix OMIM:157980
Turnpenny-Fry Syndrome
Conductive hearing impairment, Tapered finger, Pectus excavatum, Overlapping toe, Lumbar hyperlor... OMIM:618371
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Thoraci... ORPHA:1505
Trisomy 13
Abnormal antihelix morphology, Optic atrophy, Abnormality of the ureter, Postaxial hand polydacty... ORPHA:3378
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Transposition... OMIM:314390
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Multicystic kidney dysplasia, Radioulnar synostosis, Pectus excavatum, Protr... ORPHA:3270
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Patent ductus arteriosus, Vertebral fusion, Short thorax, Double outlet right vent... OMIM:618845
Caudal Regression Syndrome
Vesicoureteral reflux, Arrhinencephaly, Renal agenesis, Missing ribs, Pulmonary hypoplasia, Joint... ORPHA:3027
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... ORPHA:93359
Bor Syndrome
Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insufficiency, Hypopla... ORPHA:107
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Sensorineural hearing impairment, Scoliosis, Kyphosis ORPHA:2744
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Optic atrophy, Microtia, Aplasia/Hypoplasia of the lungs, Septo-opt... ORPHA:3301
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... OMIM:231060
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac disease, Short neck... ORPHA:99413
Mosaic Monosomy X
Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac disease, Short neck... ORPHA:99228
Monosomy X
Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac disease, Short neck... ORPHA:99226
Turner Syndrome
Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac disease, Short neck... ORPHA:881
Branchiootorenal Syndrome 1
Conductive hearing impairment, Renal dysplasia, Hypoplasia of the cochlea, Bifid uvula, Cholestea... OMIM:113650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Pulmonary hypoplasia, Short... OMIM:151210
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexio... OMIM:117650
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical bone morphology, Pulmonar... ORPHA:1486
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Thoracic dysplasia, Pulmonary hypoplasia, Cleft palate, Short ribs, Polycystic kidne... OMIM:614091
Say Syndrome
Macrotia, Tapered finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, ... OMIM:181180
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Mosaic Trisomy 9
Camptodactyly of finger, Renal dysplasia, Micrognathia, Hip dislocation, Short neck, Cleft palate... ORPHA:99776
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Holoprosencephaly, Short neck, Limb un... OMIM:269860
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Conductive hearing impairme... OMIM:102500
Fanconi Anemia, Complementation Group O
Absent thumb, Stage 5 chronic kidney disease, Hypoplasia of the radius, Anal atresia, Renal cyst,... OMIM:613390
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Renal dysplasia, Lateral clavicle hook, Cleft... OMIM:613091
Joubert Syndrome 7
Genu valgum, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Postaxial hand polydactyl... OMIM:611560
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Abnormal thorax morphology, Clubbing of toes, Mic... ORPHA:1318
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... OMIM:200980
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Pulmonary hypoplasia, Hip dislocation, Short neck, Rudimentary... ORPHA:958
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Braddock-Carey Syndrome 1
Hyperlordosis, Macrotia, Multicystic kidney dysplasia, Small hand, Ventricular septal defect, Aor... OMIM:619980
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Multicystic kidney dysplasia, Sensorineur... ORPHA:261197
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Posteriorly rotate... OMIM:618316
Cerebrocostomandibular Syndrome
Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Conductive heari... ORPHA:1393
Gorham-Stout Disease
Abnormality of the cervical spine, Osteomyelitis, Abnormal bone ossification, Abnormal finger mor... ORPHA:73
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Platyspondylic Dysplasia, Torrance Type
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Short foot, Pulmonary ... ORPHA:85166
Marden-Walker Syndrome
Camptodactyly of finger, Renal dysplasia, Micrognathia, Bifid uvula, Metatarsus adductus, Pectus ... ORPHA:2461
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Vertebral segmentation defect, Renal agenesis, Ectopic kidney, Short neck, Abnor... ORPHA:2578
Pallister-Hall Syndrome
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Distal shortening of limb... OMIM:146510
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
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Back pain, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Aqueductal stenosis, Hydrocephalus, Abnormal vertebral morphology... OMIM:276950
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Increas... ORPHA:90652
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short tibia, Bifid tongue, Pulmonary hypoplasia, Unicoronal synostosis, Cleft pa... OMIM:616300
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hip dysplasia, Clinodactyly of the 5th fi... ORPHA:3375
Trisomy 20P
Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Abnormal autonomic nervous ... ORPHA:261318
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Mosaic Trisomy 1
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... ORPHA:1692
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Restrictive cardiomyopathy, High palate, Hydroureter, Hypoplasia of the... OMIM:615398
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... ORPHA:2091
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... OMIM:102510
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Clubbing of fingers, Short neck, Limb un... ORPHA:1865
Marden-Walker Syndrome
Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Dextrocardia, Abnorm... OMIM:248700
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Conductive hearing impairment, Short 5th finger, Microtia, Micrognathia, Abno... OMIM:239800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney, Optic disc pallor OMIM:613730
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Femoral retroversion, Micrognathi... OMIM:616531
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Hallux valgus, Spinal rigidity, Clinodactyly of the 5th ... ORPHA:337
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Lateral clavicle hook, Postaxial hand ... OMIM:263520
Harrod Syndrome
Multicystic kidney dysplasia, High palate, Kyphosis, Abnormal shoulder morphology, Abnormal pelvi... ORPHA:2115
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Pulmonary hypoplasia, Early ossific... OMIM:208500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Posterio... ORPHA:93315
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Renal dysplasia, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney dy... ORPHA:2538
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Kyphosis, Abnormal cardiac septum morphology, Micrognathia, Hydroce... ORPHA:2075
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Conductive hearing impairment, Micrognathia, Bifid uvula, Camptodacty... OMIM:300373
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... ORPHA:2839
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Hypoplasia of the radius... ORPHA:3015
Juberg-Hayward Syndrome
Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, Abnormal metacarpal morphol... ORPHA:2319
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Ectopic anus, Block vertebr... OMIM:613686
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, B... OMIM:200600
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Spondylocarpotarsal Synostosis Syndrome
Short neck, Limited elbow extension, Scapular winging, Cleft palate, Vertebral fusion, Capitate-h... OMIM:272460
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... ORPHA:2311
Pallister-Hall-Like Syndrome
Renal dysplasia, Toe syndactyly, Short ribs, Micrognathia, Hydrocephalus, Hip dislocation, Pulmon... OMIM:241800
Joubert Syndrome 16
Renal cyst, Encephalocele, Nephronophthisis OMIM:614465
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Trisomy 1Q
Patent ductus arteriosus, Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megau... ORPHA:261344
Trisomy 17P
Patent ductus arteriosus, Flexion contracture, Tapered finger, High palate, Micrognathia, Polycys... ORPHA:261290
Mosaic Trisomy 16
Abnormal thorax morphology, Pulmonary hypoplasia, Hearing impairment, Ventricular septal defect, ... ORPHA:1708
Pentalogy Of Cantrell
Abnormal pericardium morphology, Abnormal sternum morphology, Encephalocele, Ventricular septal d... ORPHA:1335
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormality of the cervical spine, Abnormality of the ischium, Pericardial effu... ORPHA:464329
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Radial bowing, Micrognathia, Pulmonary hypoplasia, Lower limb undergrowth, I... ORPHA:3035
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, ... OMIM:608776
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Abnormal cervical c... OMIM:312150
Fetal Akinesia Deformation Sequence 4
Prenatal death, Kyphosis, Short neck, Low-set ears, Neonatal death, Posteriorly rotated ears OMIM:618393
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal de... OMIM:616546
Fryns Syndrome
Thoracic hypoplasia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Rocker bottom... OMIM:229850
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr... ORPHA:40
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Distal Monosomy 10Q
Tapered finger, Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of the ... ORPHA:96148
Achondroplasia
Conductive hearing impairment, Spinal stenosis with reduced interpedicular distance, Severe platy... OMIM:100800
Femoral-Facial Syndrome
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... OMIM:134780
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Hearing impairment, ... ORPHA:2092
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... OMIM:187600
Meckel Syndrome 14
Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Single ventricle, Pulmonary hypoplasia, ... OMIM:619879
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Dislocated r... OMIM:617063
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Restricted large joint movement, Glossoptosis, Short long bone, Micrognat... ORPHA:93346
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Pulmonary hypoplasia, Short neck, Abn... OMIM:200995
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Abnormal thorax morphology, Micrognathia, Camptodacty... ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydroc... ORPHA:77298
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Microtia, Aplasia/Hypoplasia of the lungs, Micrognathia, Abnormal metacarpal m... ORPHA:3429
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Triphalangeal thumb, Atrioventricular canal defect, Preaxial hand polyd... ORPHA:1120
Fryns Syndrome
Ectopic anus, Abnormal cardiac septum morphology, Micrognathia, Pulmonary hypoplasia, Short neck,... ORPHA:2059
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Abnormal cervical c... OMIM:253290
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, High palat... OMIM:617468
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Renal dysplasia, Micrognathia, Pectus excavatum, Abnormality of the u... ORPHA:369837
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Sensorineural hearing impairment, Stage 5 ch... OMIM:120330
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip... OMIM:308050
Renal Coloboma Syndrome
Vesicoureteral reflux, Optic nerve dysplasia, Multicystic kidney dysplasia, Renal dysplasia, Rena... ORPHA:1475
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia, Flexion contracture, Micrognathia OMIM:617562
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing... OMIM:271520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Renal cortical cysts, Thoracic hypoplasia, Recurrent aspiration pneumonia, Renal dys... ORPHA:397715
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition ... OMIM:617660
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Postaxi... OMIM:603194
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ve... ORPHA:2876
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Pectus excavat... ORPHA:1507
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Hydroce... ORPHA:85284
Campomelic Dysplasia
Short phalanx of finger, Spinal dysraphism, Conductive hearing impairment, Hallux valgus, Thoraci... OMIM:114290
Birt-Hogg-Dube Syndrome
Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Multiple pulmonary cysts, Renal... OMIM:135150
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Macrotia, Kyphosis, Scoliosis, Cervical spinal canal stenosis... OMIM:301900
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... OMIM:271530
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Triphalangeal thumb, Sensorineural hearing impairment, Short 5th finger... OMIM:220500
Mckusick-Kaufman Syndrome
Ectopic anus, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dy... ORPHA:2473
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Micrognathia, Pulmonary hypoplasia, Short neck, Lateral clavicle ho... OMIM:617925
Genitopatellar Syndrome
Knee flexion contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Hip contracture,... ORPHA:85201
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Micrognathia, Elbow flexion contracture, Camptodact... ORPHA:56304
Vacterl With Hydrocephalus
Aqueductal stenosis, Microtia, third degree, Absence of the sacrum, Renal hypoplasia/aplasia, Spi... ORPHA:3412
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Micrognathia, Camptodactyly, Absent sternal ossification, Latera... OMIM:224690
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... OMIM:619902
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Pulmonary hy... ORPHA:2141
Severe Congenital Nemaline Myopathy
Flexion contracture, Abnormal thorax morphology, Pulmonary hypoplasia, Arthrogryposis multiplex c... ORPHA:171430
Hajdu-Cheney Syndrome
Micrognathia, Osteolysis, Short neck, Cleft palate, Hearing impairment, Short toe, Recurrent frac... ORPHA:955
Kleefstra Syndrome
Pulmonary artery stenosis, Hearing impairment, Chronic otitis media, Vesicoureteral reflux, Ventr... ORPHA:261494
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Thoracic hypoplasia, Renal dysplasia, Micrognathia, Bifid uvula, Reduced... OMIM:266920
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Multiple joint contractures, Micrognathia, Atlantoaxial dislocation, Pulmonary hyp... ORPHA:536467
Caudal Duplication
Myelomeningocele, Renal hypoplasia/aplasia, Vertebral segmentation defect, Spina bifida, Abnormal... ORPHA:1756
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Bilateral radial aplasia, Esop... OMIM:300514
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... OMIM:263630
C Syndrome
Patent ductus arteriosus, Renal cortical cysts, High palate, Short metacarpal, Ventricular septal... OMIM:211750
Kagami-Ogata Syndrome
Patent ductus arteriosus, Bell-shaped thorax, Flexion contracture, Coxa valga, Ventricular septal... OMIM:608149
Peutz-Jeghers Syndrome
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... ORPHA:2869
15q26 overgrowth syndrome
Camptodactyly of finger, Tapered finger, Micrognathia, Duplication of renal pelvis, Short neck, V... DECIPHER:81
Alveolar Echinococcosis
Pancreatic cysts, Abnormal pericardium morphology, Abnormal sternum morphology, Low back pain, Ab... ORPHA:284
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis OMIM:618323
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Ventricular septal defect, Short ribs, Hy... OMIM:617895
Bardet-Biedl Syndrome 17
Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R... OMIM:615994
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Hearing abnormality, Multicystic kidney dysplasia, Clinodactyly of the 5th finger, R... ORPHA:2031
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow palate, High palate, Ventricular septal defect, Short long bone, Cardiomegaly,... OMIM:617022
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Renal dysplasia, Left ventricular hypertrophy, Pulmonary hypoplasia, Abnorma... OMIM:616733
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Pulmonary hypoplasia, Pectu... ORPHA:2990
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Finger syndactyly, Nephrotic syndrome, Hypoplasia of penis, Postaxi... ORPHA:110
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Intestinal malrotation, Syn... OMIM:601163
Cystic Echinococcosis
Abnormal subpleural morphology, Ovarian cyst, Renal cyst, Multiple pulmonary cysts, Abnormal hear... ORPHA:400
Nabais Sa-De Vries Syndrome, Type 2
Gastroesophageal reflux, Multicystic kidney dysplasia, Tapered finger, High palate, Microtia, Mic... OMIM:618829
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Limb underg... ORPHA:93352
2Q37 Microdeletion Syndrome
Nephroblastoma, Conductive hearing impairment, Multicystic kidney dysplasia, Short foot, Short me... ORPHA:1001
Joubert Syndrome 20
Renal cyst, Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Hallux valgus, Multiple joint contractures, Optic disc pallor, Toe syndactyly, Pectu... ORPHA:464306
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Neonatal death, Hearing impairment, Kyphosis OMIM:618237
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Death in infancy, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal in... OMIM:614922
Alg3-Cdg
High palate, Abnormal uvula morphology, Neural tube defect, Abnormality of the gastrointestinal t... ORPHA:79321
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Micrognathia, Bifid uvula, Short neck, Limb undergrowth, Fibular bowing,... ORPHA:1427
Coach Syndrome 1
Multiple small medullary renal cysts, Encephalocele, Stage 5 chronic kidney disease, Esophageal v... OMIM:216360
Floating-Harbor Syndrome
Conductive hearing impairment, Congenital posterior urethral valve, Dislocated radial head, Celia... ORPHA:2044
Meckel Syndrome, Type 5
Anencephaly, Postaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly, Cleft palate, Oc... OMIM:611561
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Scoliosis, Hearing impairment, Kyphosis ORPHA:101075
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Optic atrophy, Hydrocephalus, Renal cyst, ... OMIM:614424
Holt-Oram Syndrome
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Pectus excavatum, Phocom... OMIM:142900
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Flexion contracture, Multiple joint contractures, Anterior cleftin... OMIM:265000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Macrotia, Hallux valgus, Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, H... ORPHA:166035
Zellweger Syndrome
Multicystic kidney dysplasia, Sensorineural hearing impairment, High palate, Optic atrophy, Wide ... ORPHA:912
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Short neck, Abnormal form... ORPHA:2308
Robinow Syndrome
Bifid tongue, Micrognathia, Mesomelic arm shortening, Posteriorly rotated ears, Multicystic kidne... ORPHA:97360
Meckel Syndrome, Type 6
Hepatic cysts, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Postaxial foot polydactyly, Rena... OMIM:612284
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Kyphosis, Spinal rigidity, Short neck, Scoliosis OMIM:300718
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, A... ORPHA:73246
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease OMIM:617056
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Pectus carinatu... OMIM:618161
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Tapered finger, Optic disc pallor, Pectus excavatum, Short toe, Ventricular septal defect, Pelvic... ORPHA:464311
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Macrotia, Ventricular septal defect, Short metacarpal, Micrognathia, Brachydactyly, Renal cyst, H... OMIM:250410
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Facial diplegia, Short neck, Scoliosis, Low-set ears, Neonatal death OMIM:611890
Khan-Khan-Katsanis Syndrome
Sacral dimple, Vesicoureteral reflux, Patent foramen ovale, Sensorineural hearing impairment, Pat... OMIM:618460
Townes-Brocks Syndrome
Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal rib morphology, Hearing ... ORPHA:857
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Short thorax, Short metacarpal, Short ribs, Rhizomelia, I... ORPHA:50945
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Short foot, Ventricular se... OMIM:618454
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Flexion contracture, Thoracic hypoplasia, Micrognathia, Pulmonary... ORPHA:666
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Pulmona... OMIM:270400
Fraser Syndrome 1
Conductive hearing impairment, Abnormality of the anus, Pulmonary hypoplasia, Cleft palate, Cuppe... OMIM:219000
Townes-Brocks Syndrome 1
2-3 toe syndactyly, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Lop ear,... OMIM:107480
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Scoliosis, Hearing impairment, Kyphosis ORPHA:101078
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Short... OMIM:210710
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Micrognathia, Bilateral sensorineural hearing impairment, Ovarian cyst... OMIM:614527
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Enlarged thorax, Multicystic kidney dysplasia, Tapered finger, High pala... ORPHA:261349
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Atrioventricular canal defect, Bifid tongue, Optic atrophy, Micrognathia, Hip... ORPHA:818
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Increased susceptibility to fractures, Sensorineural hearing... ORPHA:18
Esophageal Atresia
Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary system, Cleft palate, Hearing impairm... ORPHA:1199
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Micrognathia, Missing ri... OMIM:251230
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Kyphosis ORPHA:1548
Raine Syndrome
Thoracic hypoplasia, Increased bone mineral density, Micrognathia, Pulmonary hypoplasia, Pectus e... OMIM:259775
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Pulmonary hypoplasia, Scolios... ORPHA:994
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Abnormality of the ureter, Short neck, Hypospa... ORPHA:2522
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Macrotia, Posteriorly rotated ears OMIM:618392
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulmonary hy... OMIM:615415
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Abnormal stern... ORPHA:2847
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Finger syndactyly, Microtia, Renal hypoplasia/aplasia, Arrhinencephaly, Radi... ORPHA:1788
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal dysplasia, Missing ri... OMIM:184705
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Short long bone, Micrognathia, Anisospondyly, Pulmonary hypoplasia, Micromel... OMIM:224410
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Macrotia, Flexion contracture, Kyphosis, Nephrotic syndrome, Villous atroph... OMIM:212065
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Cardiomyopathy, Wide anterior fontanel, Polycystic kidney dysplasia, Lacticaciduri... ORPHA:26791
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thoracolumbar scoliosis, Sagittal craniosynostosis, Pancreatic cysts, Sensorineural hearing impai... OMIM:610199
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Hepatoblastoma, Short neck, Postaxial ... ORPHA:373
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Micrognathia, Pectus excavatum, Short neck, Postaxial hand polydact... OMIM:613610
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Nephroblastoma, Kyphosis, Enlarged kidney, Umbilical hernia OMIM:618272
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Micrognathia, Furrowed tongue, Posteriorly rotated ears, Lumbar hyperlordosis, Ves... OMIM:616975
Axial Osteomalacia
Renal cyst, Increased bone mineral density, Osteomalacia OMIM:109130
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Bladder trabeculation, Micrognathia, Pulmonary hypoplasia, Large fleshy ears, Cl... OMIM:614080
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Hallux valgus, Multiple joint contractures, Micrognathia, Elbow flexion cont... ORPHA:536471
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Wide anterior fontanel OMIM:614883
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Tapered finger, Clinodactyly, Down-sloping shoulders, Microretrognathia, Renal cyst, Scapular win... OMIM:615560
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Scoliosis, Kyphosis OMIM:617404
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Hypospadias, Scoliosis, Low-set ears OMIM:615761
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Renal cyst, Overlapping toe,... OMIM:617478
Primary Pulmonary Hypoplasia
Pneumothorax, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypopla... ORPHA:2257
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Absent or minimally ossified vertebral bodies, Bifid tongue, Ectopic anus, Micrognathia, Urethrov... ORPHA:93271
Masa Syndrome
Hyperlordosis, Hydrocephalus, Kyphosis OMIM:303350
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney... OMIM:231680
Pagod Syndrome
Meningocele, Multicystic kidney dysplasia, Encephalocele, Optic atrophy, Renal hypoplasia/aplasia... ORPHA:991
Distal Monosomy 12Q
2-3 toe syndactyly, Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contract... ORPHA:96149
Roberts Syndrome
Wrist flexion contracture, Micrognathia, Long penis, Phocomelia, Short neck, Radial deviation of ... ORPHA:3103
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, Microtia, Vertebral segmentation defect, 3-4 finger cutan... OMIM:612530
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Pulmonary hypoplasia, Absence of renal corticome... OMIM:602088
Agnathia-Otocephaly Complex
Conductive hearing impairment, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, P... OMIM:202650
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Widening of cervical spinal canal, Pulmonary hypoplasia... OMIM:253310
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Meckel Syndrome, Type 3
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Postaxial h... OMIM:607361
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Microtia, Hypoplasia of penis, Spina bifida occulta, Short neck, Severe sensorineural h... ORPHA:2983
Vater/Vacterl Association
Renal dysplasia, Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Ventricular sept... OMIM:192350
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Bilateral renal agenesis OMIM:619887
22Q11.2 Deletion Syndrome
Meningocele, Conductive hearing impairment, Truncus arteriosus, Optic atrophy, Abnormal thorax mo... ORPHA:567
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Macrotia, Scoliosis, Kyphosis, Hydronephrosis OMIM:619797
Phelan-Mcdermid Syndrome
Sacral dimple, Vesicoureteral reflux, Patent ductus arteriosus, Macrotia, 2-3 toe syndactyly, Gas... OMIM:606232
Trisomy 10P
Short toe, Contracture of thumb, Macrotia, Gastroesophageal reflux, High palate, Abnormality of t... ORPHA:171929
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia, Bilateral renal agenesis OMIM:615721
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Finger syndactyly, Renal hypoplasia/aplasia, Persistent cloaca, Toe syn... ORPHA:1112
Sandhoff Disease
Hearing impairment, Kyphosis ORPHA:796
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Macrotia, Sensorineural hearing impai... ORPHA:500095
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
1P36 Deletion Syndrome
Camptodactyly of finger, Conductive hearing impairment, Abnormality of the anus, Optic atrophy, A... ORPHA:1606
Penile Agenesis
Anorectal anomaly, Rectal fistula, Absent penis, Bilateral lung agenesis, Bilateral renal agenesi... ORPHA:49
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Cardiomegaly, Tapered finger, Tapered toe, Narrow palate, Renal dysplas... OMIM:608836
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Neuronopathy, Distal Hereditary Motor, Type Viii
Hyperlordosis, Scoliosis, Kyphosis OMIM:600175
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Renal hypoplasia/aplasia, Hydroureter, Spina bifida, Hyp... ORPHA:93929
Chromosome 13Q33-Q34 Deletion Syndrome
Tapered finger, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Overlapping toe, Cutaneous syn... OMIM:619148
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Contractures of the large joints, Renal dysplasia, Clinodactyly of the... ORPHA:96179
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Mitral valve prolapse, Hepatic cysts, Renal ins... OMIM:173900
Alg9-Cdg
Hypoplasia of the bladder, Pericardial effusion, Micrognathia, Abnormal left ventricular outflow ... ORPHA:79328
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Pseudoepiphyses, Congenital sensorineural hearing impairment, Post... OMIM:157800
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Agenesis of pulmonary vessels, Bilateral lung agenesis, Pulmonary arter... OMIM:601186
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... ORPHA:480536
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Elbow flexion... OMIM:601559
Congenital Myopathy 1B, Autosomal Recessive
High palate, Joint laxity, Pulmonary hypoplasia, Scoliosis, Recurrent respiratory infections, Fac... OMIM:255320
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Alagille Syndrome 1
Renal dysplasia, Hepatocellular carcinoma, Peripheral pulmonary artery stenosis, Abnormal rib mor... OMIM:118450
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Renal agenesis,... ORPHA:139466
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, Pulmonary hypoplasia, Multip... OMIM:616867
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Aminoaciduria, Joint contracture of the hand, Micrognathia, Polycystic kid... OMIM:214110
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Bronchiectasis, Kyphosis, Optic atrophy, Micrognathia, Pulmonary hypopl... OMIM:619708
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Hallux valgus, Optic atrophy, Cleft... ORPHA:794
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Micrognathia, Epiphyseal stippling, Pulmonary hypoplasia, Metatarsus adductus, Dys... OMIM:214100
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Neoplasm of the liver, Hydrocephalus, Nephropathy, Scoliosis, Posta... ORPHA:1454
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Sillence Syndrome
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... ORPHA:3168
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Narrow palate, Optic atrophy, Hydr... ORPHA:207
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Kyphosis, Scoliosis, Hearing impairment ORPHA:99014
Sialidosis Type 2
Umbilical hernia, Nephropathy, Hearing impairment, Kyphosis ORPHA:87876
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Craniofacial Microsomia
Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Pulmonary hypoplasia, Cervical... OMIM:164210
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... ORPHA:488618
Winchester Syndrome
Kyphosis OMIM:277950
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria OMIM:611773
Meier-Gorlin Syndrome 3
Genu varum, Gastroesophageal reflux, Short thorax, Patellar hypoplasia, Coxa vara, Patellar aplas... OMIM:613803
Tonne-Kalscheuer Syndrome
Micrognathia, Velopharyngeal insufficiency, Pulmonary hypoplasia, Hypospadias, Broad thumb, Abnor... OMIM:300978
Tetrasomy 9P
Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Bifid uvula, Pulmonary hypopla... ORPHA:3310
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Postaxial polydactyly OMIM:605231
Genitopatellar Syndrome
Short phalanx of finger, Micrognathia, Pulmonary hypoplasia, Dysphagia, Hearing impairment, Multi... OMIM:606170
Congenital Myopathy 17
Respiratory tract infection, Distal arthrogryposis, Tapered finger, High palate, Narrow chest, Cl... OMIM:618975
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Sensorineural hearing impairment, Low-set ears, Optic atrophy, High palate... OMIM:614866
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Villous atrophy, Steatorrhea, Renal cyst, Protein-losing enteropathy OMIM:602579
Autosomal Recessive Spastic Paraplegia Type 53
Abnormality of the auditory canal, Hearing impairment, Kyphosis ORPHA:319199
Meckel Syndrome, Type 1
Camptodactyly of finger, Hypoplasia of the bladder, Abnormal cardiac septum morphology, Micrognat... OMIM:249000
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Renal Agenesis, Bilateral
Renal agenesis, Pulmonary hypoplasia, Abnormal sacrum morphology, Tracheoesophageal fistula, Abno... ORPHA:1848
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria OMIM:619003
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Urban-Rogers-Meyer Syndrome
Kyphosis, Aplasia/Hypoplasia of the earlobes, Hypoplasia of penis, Abnormality of the ureter, Sho... ORPHA:3409
Tetrasomy 5P
High palate, Wide anterior fontanel, Micrognathia, Hydrocephalus, Long fingers, Pulmonary hypopla... ORPHA:3309
Duane Retraction Syndrome
Triphalangeal thumb, Anorectal anomaly, Aplasia/Hypoplasia of the thumb, Narrow internal auditory... ORPHA:233
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Protruding ear ORPHA:85317
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
Williams Syndrome
Peptic ulcer, Colonic diverticula, Hallux valgus, Abnormal cardiac septum morphology, Increased b... ORPHA:904
Fraser Syndrome
Conductive hearing impairment, Bifid tongue, Ectopic anus, Toe syndactyly, Pulmonary hypoplasia, ... ORPHA:2052
Distal Monosomy 15Q
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl... ORPHA:1596
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Scoliosis, Hearing impairment, Kyphosis OMIM:614409
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Spinal dysraphism, Coxa valga, Flexion contracture, Thoracic hypoplasia, Micrognathi... ORPHA:96334
Joubert Syndrome 2
Encephalocele, High palate, Hydrocephalus, Postaxial foot polydactyly, Renal cyst, Postaxial hand... OMIM:608091
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Subvalvular aortic stenosis, Multicystic kidney dysplasia, Microg... ORPHA:1052
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea, Renal cyst, Rickets, Dark urine ORPHA:79303
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... OMIM:208540
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Thoracic hypoplasia, Pulmonary hypoplasia OMIM:613124
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Chondroitin sulfate excretion in urine, Kyph... OMIM:253000
Ck Syndrome
Kyphosis, Hyperlordosis, Scoliosis, Posteriorly rotated ears OMIM:300831
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Kyphosis, Abnormality of the kidney, Aganglionic megacolon, Renal agenesis... ORPHA:261222
Joubert Syndrome 21
Bell-shaped thorax, Sensorineural hearing impairment, Pulmonary hypoplasia, Renal cyst, Occipital... OMIM:615636
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Alg1-Cdg
Kyphosis, Nephrotic syndrome, Abnormality of the kidney, Scoliosis, Renal insufficiency ORPHA:79327
Matthew-Wood Syndrome
Vesicoureteral reflux, Pulmonary hypoplasia, Duodenal stenosis, Horseshoe kidney, Abnormal lung m... ORPHA:2470
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Mcdonough Syndrome
Macrotia, Kyphosis, Scoliosis, Low-set, posteriorly rotated ears, Protruding ear ORPHA:2471
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Polycystic kidney dysplasia, Spinal canal stenosis, Osteopenia ORPHA:35125
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Micrognathia, Hip dislocation, Abnormal rib morphology, Abnormal m... ORPHA:534
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614862
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3082
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Rectovagi... OMIM:236700
Restrictive Dermopathy 1
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Ankylosis, Increased anterioposterior di... OMIM:275210
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Microcolon, Pulmonary hypopla... ORPHA:1662
Peroxisome Biogenesis Disorder 1B
Sensorineural hearing impairment, Optic atrophy, Epiphyseal stippling, Renal cyst, Hyperoxaluria OMIM:601539
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow internal auditory canal, Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly, Synot... ORPHA:990
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short ribs, Short long bone, Thoracic dysplasia, Pulmonary hypoplasia,... OMIM:615503
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... OMIM:267010
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Nephrocalcinosis, Renal insufficiency, Car... ORPHA:445038
Joubert Syndrome 1
Optic disc pallor, Clinodactyly, Macroglossia, Postaxial foot polydactyly, Renal cyst, Nephropath... OMIM:213300
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Microtia OMIM:141300
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Double outlet right ventricle, Ventricula... ORPHA:185
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Low-set ears, Short neck, Scoliosis, Kyphosis ORPHA:178148
Orofaciodigital Syndrome I
Polydactyly, Bifid tongue, Radial deviation of finger, Ovarian cyst, Cleft palate, Hearing impair... OMIM:311200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Scoliosis, Kyphosis OMIM:615290
D-Bifunctional Protein Deficiency
Thoracic hypoplasia, High palate, Micrognathia, Pectus excavatum, Renal cyst, Decreased nerve con... OMIM:261515
Microphthalmia, Syndromic 12
Micrognathia, Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septal defect OMIM:615524
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Short ... ORPHA:1556
Peters Plus Syndrome
Conductive hearing impairment, Optic atrophy, Abnormal cardiac septum morphology, Toe syndactyly,... ORPHA:709
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis, Protruding ear OMIM:300861
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Low-set ears, Scoliosis, Kyphosis OMIM:615834
Arima Syndrome
Renal tubular atrophy, Optic atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polyc... OMIM:243910
Kabuki Syndrome 1
Short 5th finger, Recurrent aspiration pneumonia, Micrognathia, Cleft palate, Anal stenosis, Hear... OMIM:147920
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Limb Body Wall Complex
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... ORPHA:2369
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231169
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Multicystic kidney dysplasia, Preaxial hand polydactyly, High pala... ORPHA:1297
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Urethral stricture, Abnormality of the bladder, Pneumonia, Multicystic kidney dyspl... ORPHA:79404
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Macrotia, Bifid ureter, Sensorineural hearing impairment, Ventricular septal defe... OMIM:617107
Ogden Syndrome
Metatarsus valgus, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia, Pectus exca... OMIM:300855
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Patent foramen ovale, Atelectasis, Micrognathia, Pyloric stenosis, Pulmo... OMIM:613177
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Arthriti... ORPHA:93111
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Abnormality of the kidney, Hydrocephalus, Holoprosencephaly, Platyspondy... ORPHA:93274
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... ORPHA:411709
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Short umbilical ... OMIM:600383
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Proteus Syndrome
Metatarsus valgus, Hallux valgus, Hip dislocation, Long penis, Sirenomelia, Abnormal form of the ... ORPHA:744
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly OMIM:230650
Microphthalmia, Syndromic 1
Camptodactyly, Pulmonary hypoplasia, Pectus excavatum, Radial deviation of finger, Optic disc col... OMIM:309800
Orofaciodigital Syndrome Type 1
Micrognathia, Postaxial hand polydactyly, Cleft palate, Hearing impairment, Reduced bone mineral ... ORPHA:2750
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Sensorineural hearing impairment, Scoliosis, Kyphosis ORPHA:464282
C Syndrome
Sacral dimple, Multicystic kidney dysplasia, High palate, Abnormality of the anus, Renal hypoplas... ORPHA:1308
Cornelia De Lange Syndrome
Conductive hearing impairment, Toe syndactyly, Micrognathia, Hip dislocation, Pectus excavatum, S... ORPHA:199
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Low-set ears, Scoliosis, Kyphosis ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Kyphosis, Hydrocephalus, Unilateral renal agenesis, Scoliosis, Micropenis,... OMIM:619951
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Sensorineural hearing impairment, Kyphosis, Hypoplasia of t... OMIM:253220
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Hydrour... ORPHA:2241
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Vertebral segmentation defect, Unilateral renal agen... ORPHA:3109
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... ORPHA:63260
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Nephrolithiasis, Kyphosis, Neuropathic spinal arthropathy ORPHA:352447
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Microphallus, Abnormality of the outer ear, Hypospadias, Scoliosis, H... ORPHA:94065
Emanuel Syndrome
Sacral dimple, Macrotia, Kyphosis, Recurrent urinary tract infections, Hydrocephalus, Unilateral ... OMIM:609029
Oeis Complex
Vesicovaginal fistula, Hydrocephalus, Congenital hip dislocation, Pelvic kidney, Hemivertebrae, H... OMIM:258040
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis OMIM:619255
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, High palate, Secundum atrial... OMIM:616866
Alpha-Mannosidosis
Macrotia, Kyphosis, Hearing impairment, Short neck, Scoliosis, Chronic otitis media, Abnormal hel... ORPHA:61
Sialidosis Type 1
Aminoaciduria, Sensorineural hearing impairment, Kyphosis, Urinary excretion of sialylated oligos... ORPHA:812
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Polycystic ovaries, Sensorineural hearing impairment, Kyphosis ORPHA:3085
3C Syndrome
Kyphosis, Death in infancy, Optic atrophy, Hydrocephalus, Hypoplasia of penis, Hypospadias, Short... ORPHA:7
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:48431
Lymphangioleiomyomatosis
Pneumothorax, Renal angiomyolipoma, Optic atrophy, Hydrocephalus, Hematuria, Chylopericardium, Em... ORPHA:538
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Coronal craniosynostosis, Fused cervical vertebrae, Mic... ORPHA:83617
Yunis-Varon Syndrome
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hip di... OMIM:216340
Microphthalmia, Lenz Type
Hyperlordosis, Kyphosis, Renal hypoplasia/aplasia, Hydroureter, External ear malformation, Hyposp... ORPHA:568