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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 insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Bent Bone Dysplasia Syndrome 2
Osteopenia, Atrial septal defect, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin r... OMIM:620076
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Scarf Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal... ORPHA:3134
Tarp Syndrome
Micrognathia, Glossoptosis, High palate, Atrial septal defect, Microtia, Low-set ears, Meckel div... OMIM:311900
Tarp Syndrome
Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ear... ORPHA:2886
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... ORPHA:2970
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Joint stiffness, Renal hypoplasia/aplasia, Micrognathia, Cleft palate,... ORPHA:1166
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Short neck, Ectopic kidney, High, narrow palate, Micromelia, Microgn... OMIM:122470
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, Stage 5 chronic kidney disease... ORPHA:2752
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Anorectal anomaly, Abnormal form of the vertebral bodies, Renal cyst, V... ORPHA:1834
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,... OMIM:312830
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... OMIM:184260
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Donnai-Barrow Syndrome
Ventricular septal defect, Proteinuria, Posteriorly rotated ears, Intestinal malrotation, Non-aci... OMIM:222448
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... OMIM:258850
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Posteriorly rotated ears, Nephroblastoma, Short neck, ... OMIM:257300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Abnormal lu... ORPHA:2631
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Long pen... ORPHA:1988
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Pectus ... ORPHA:2911
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney... OMIM:617661
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept... OMIM:614815
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... ORPHA:3404
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndact... OMIM:236500
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Op... OMIM:615583
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst, Low-set ears OMIM:614870
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... OMIM:269150
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ... ORPHA:2635
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Posteriorly rotated ears, Proximal placement of thumb, Patent foramen ... OMIM:620113
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022
Rhyns Syndrome
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... ORPHA:140976
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow great... OMIM:312870
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Micromelia, Micrognat... OMIM:617866
Distal Triplication 15Q
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect... ORPHA:314588
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft palate, Polydacty... OMIM:613885
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Short neck, Cardiomegaly, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... ORPHA:1354
Momo Syndrome
Underfolded helix, Short neck, Femoral bowing, Short sternum, High palate, Abnormal bone ossifica... ORPHA:2563
Renal Tubular Dysgenesis
Renotubular dysgenesis, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmo... ORPHA:3033
Czeizel-Losonci Syndrome
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... ORPHA:2437
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Coffin-Siris Syndrome 1
Ectopic kidney, Prominent interphalangeal joints, High palate, Clinodactyly of the 5th finger, Pr... OMIM:135900
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal widening,... OMIM:263210
Thanatophoric Dysplasia
Atrial septal defect, Abnormality of the kidney, Hearing impairment, Joint stiffness, Micromelia,... ORPHA:2655
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... ORPHA:2790
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic ki... ORPHA:887
Momo Syndrome
High palate, Short sternum, Underfolded helix, Short neck OMIM:157980
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Turnpenny-Fry Syndrome
Prominent interphalangeal joints, Pectus carinatum, Long thorax, High palate, Gastroesophageal re... OMIM:618371
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Hypospadias, Abnormal pinna morphology, Postaxial polydac... OMIM:614175
Trisomy 13
High, narrow palate, Abnormal lung lobation, Narrow chest, Atrial septal defect, Patent ductus ar... ORPHA:3378
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Patent ductus ... OMIM:618845
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Pectus excavatum, Hearing abnormality, Protruding ear, Radioulnar s... ORPHA:3270
Bor Syndrome
Ureteropelvic junction obstruction, Branchial cyst, Renal insufficiency, Multicystic kidney dyspl... ORPHA:107
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck ORPHA:2744
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:881
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... OMIM:113650
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,... ORPHA:3301
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Cleft palate, Transposition of ... OMIM:231060
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Conductive hearing im... ORPHA:261197
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Micrognathia, Limitation of j... ORPHA:1486
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Micromelia, Renal cyst, High palate, Narrow chest, Thoracic dysplasia, Syndactyly, Hypospadias, R... OMIM:614091
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation,... ORPHA:99776
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,... OMIM:181180
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Joint st... ORPHA:3027
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive... OMIM:102500
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... OMIM:611560
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the... OMIM:200980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia... ORPHA:1318
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:2578
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... OMIM:613390
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Atrial septal defect, Pulmonary artery atresia, ... OMIM:618316
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Pe... ORPHA:958
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... OMIM:619980
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Joint hyperflexibility,... ORPHA:3375
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Tracheomalacia, Microgn... ORPHA:1393
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... ORPHA:2461
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3032
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... OMIM:276950
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Holopr... OMIM:146510
Isolated Polycystic Liver Disease
Back pain, Gastroesophageal reflux, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
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
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Patent duct... OMIM:615398
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short neck, Tapered finger, Micrognathia, Patent ductus arte... ORPHA:261290
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia OMIM:614859
Mosaic Trisomy 1
Thoracic scoliosis, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micropenis, Absent... ORPHA:1692
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Postaxial polydactyly, Aplastic clavicle, Short neck, Hamartoma of tongue,... OMIM:616546
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... OMIM:263520
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... OMIM:248700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Anis... ORPHA:1865
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ectopic kidney, Neonatal death, Cystic renal dysplasia OMIM:613730
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Protruding ear, Abnormal sho... ORPHA:2115
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Abnorm... OMIM:239800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Scoliosis, Hearing impairment OMIM:617087
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Fetal pyelectasis, Knee... OMIM:616531
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Pectus carina... ORPHA:93315
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Kyphosis, Postaxial hand polydactyly, Hy... ORPHA:2075
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal ref... OMIM:300373
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal hypoplasia/aplasia, H... ORPHA:3015
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Mosaic Trisomy 16
Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Abnormality of the cervic... ORPHA:1708
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hy... OMIM:241800
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... ORPHA:2311
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Short neck, ... OMIM:200600
Joubert Syndrome 16
Encephalocele, Renal cyst, Nephronophthisis OMIM:614465
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ... OMIM:613686
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... ORPHA:2319
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Distal Deletion 10Q
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... ORPHA:96148
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect... ORPHA:2538
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... ORPHA:261344
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Congenital Disorder Of Glycosylation, Type Il
Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal cardiac septum morphology, ... OMIM:608776
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal age... ORPHA:1335
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Short neck, Kyphosis, Prenatal death, Low-set ears, Neonatal death OMIM:618393
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... OMIM:312150
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, G... OMIM:134780
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... OMIM:619879
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Focal Dermal Hypoplasia
Gastroesophageal reflux, Finger syndactyly, Multicystic kidney dysplasia, Spina bifida, Patent du... ORPHA:2092
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... ORPHA:93346
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... OMIM:617063
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Short neck, Micromelia, Postaxial... OMIM:200995
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia... ORPHA:77298
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly pla... ORPHA:798
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... ORPHA:1120
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... ORPHA:3429
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst, Nephrocalcinos... ORPHA:369837
Fryns Syndrome
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Atrial septal defect, ... OMIM:229850
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Fryns Syndrome
Short neck, Micrognathia, High palate, Gastroesophageal reflux, Narrow chest, Vesicoureteral refl... ORPHA:2059
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro... OMIM:617468
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... OMIM:120330
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... OMIM:253290
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... OMIM:614922
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia OMIM:617562
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A... ORPHA:1507
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ear... ORPHA:2876
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Atrial septal defect, Sensorineural hearing impairment, Submucous cleft ha... OMIM:617660
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... OMIM:135150
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Micropenis, Macrotia, Scheuermann-like vertebral changes, Cervical spinal ca... OMIM:301900
Bresek Syndrome
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Hemivert... ORPHA:85284
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... OMIM:220500
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Patellar aplasia, ... ORPHA:85201
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Meier-Gorlin Syndrome 1
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Pect... OMIM:224690
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Thickened helice... ORPHA:261494
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Renal agenesis, Spina bifida, Renal hypoplasia/apl... ORPHA:3412
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Hi... ORPHA:536467
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Decreased skull o... ORPHA:955
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, High pa... OMIM:266920
Severe Congenital Nemaline Myopathy
Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contr... ORPHA:171430
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Abnormal... ORPHA:1756
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Renal agenesis, Short neck, Absent thumb, Esophageal atresia, Patent d... OMIM:300514
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular septal defect, ... OMIM:211750
15q26 overgrowth syndrome
Short neck, Micrognathia, Abnormal finger morphology, High palate, Vesicoureteral reflux, Long to... DECIPHER:81
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, ... ORPHA:284
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Micrognathia, Protruding ... OMIM:618829
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers... OMIM:608149
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing abnormality, Meningocele... ORPHA:2031
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect, Stiff neck,... OMIM:617022
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of... ORPHA:464306
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebral s... ORPHA:2990
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:110
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity OMIM:618323
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia, Left ... OMIM:616733
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hy... OMIM:617895
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Tracheomalacia... ORPHA:1001
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Kyphosis, Scoliosis, Hearing impairment ORPHA:101075
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Low-set ears, Clinodact... OMIM:601163
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Bone cyst, Renal cyst, Abnormal heart morphology, Membr... ORPHA:400
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial... ORPHA:2044
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th... ORPHA:464311
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Optic atrophy, Hearing impairment OMIM:618237
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Unilateral renal agenesis, Postaxial h... OMIM:216360
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Hypoplasia of the cochlea, Patent ductus ... ORPHA:251061
Otospondylomegaepiphyseal Dysplasia
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... ORPHA:97360
Alg3-Cdg
Osteopenia, Abnormality of the gastrointestinal tract, Abnormal pinna morphology, Metaphyseal cho... ORPHA:79321
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Metap... ORPHA:166035
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... OMIM:611561
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... OMIM:142900
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc... OMIM:614424
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Patent ductus arteriosus after premature birth, Postaxial po... OMIM:618460
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption, External ear... ORPHA:912
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... ORPHA:73246
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathi... OMIM:250410
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Meckel Syndrome, Type 6
Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Hydrocephalus, Anencepha... OMIM:612284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Pectus carinatum, Renal fibrosi... OMIM:618161
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,... ORPHA:2308
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmona... OMIM:617194
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, ... OMIM:618454
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Facial diplegia, Scoliosis, Low-set ears, Neonatal death OMIM:611890
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... OMIM:270400
Chromosome 17Q12 Deletion Syndrome
Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney d... OMIM:614527
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Kyphosis, Scoliosis, Hearing impairment ORPHA:101078
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairment, Rickets, Nephr... ORPHA:18
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomelia, Aplastic ... ORPHA:50945
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Sensorineural hearing impairment, Lumbar hyperlordosis, Scoliosis OMIM:616756
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing... ORPHA:261349
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral... OMIM:107480
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal lung lobatio... ORPHA:818
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial synostosis,... OMIM:251230
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, Clinodactyly... ORPHA:1199
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Conductive hearing impairment, Micr... OMIM:219000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypospadias, Scoliosis ORPHA:1548
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Megalopa... OMIM:615636
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... ORPHA:994
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Macrotia, Posteriorly rotated ears OMIM:618392
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Villous atrophy, Proteinuria, Pericardial effusion, Kyphosis, Flexion c... OMIM:212065
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... OMIM:615560
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Abnormal pinna morphology, Hyperlordosis, Glutaric aciduria, Wide anterior font... ORPHA:26791
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Pectus excavatum, Patent duct... ORPHA:2847
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, ... OMIM:610199
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi... OMIM:184705
Raine Syndrome
Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Long hallux, Increased bone mi... OMIM:259775
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... OMIM:224410
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardi... OMIM:615415
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... ORPHA:373
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Cranioectodermal Dysplasia 2
Short neck, Micrognathia, Renal cyst, High palate, Narrow chest, Atrial septal defect, Patent for... OMIM:613610
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodacty... OMIM:616975
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Multiple renal cysts, Renal cyst OMIM:614883
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Macrotia, Hydronephrosis, Scoliosis OMIM:619797
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Micrognathia, Large fleshy ears, High palate, Gastroesophageal reflux, Atri... OMIM:614080
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... ORPHA:536471
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Low-set ears OMIM:615761
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... ORPHA:2257
Distal Deletion 12Q
Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Aplasia/Hypoplasia of the middle p... ORPHA:96149
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... OMIM:192350
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... ORPHA:93271
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, ... OMIM:231680
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy... ORPHA:991
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Kyphosis, Low-set ears, Micropenis, Macrotia OMIM:615433
Agnathia-Otocephaly Complex
Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... OMIM:202650
Masa Syndrome
Kyphosis, Hydrocephalus, Hyperlordosis OMIM:303350
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... OMIM:617478
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Arthrogryposis multiplex congenit... OMIM:253310
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Pectus excavatum, 3-4 finger cutaneous syndactyly, Cleft p... OMIM:612530
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:607361
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho... ORPHA:500095
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus ... OMIM:606232
Trisomy 10P
Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked ... ORPHA:171929
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short neck, Kyphosis, Microtia, Severe se... ORPHA:2983
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Clinodac... ORPHA:1606
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Posteriorly rotated ears, Rectal ... ORPHA:49
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Atr... ORPHA:567
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... OMIM:615524
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Patent ductus arteriosus, Aplasia/Hy... ORPHA:1112
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Posteriorly ro... OMIM:608836
Sandhoff Disease
Kyphosis, Hearing impairment ORPHA:796
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Preaxial hand polydactyly, Respiratory infections in early life... ORPHA:96179
Congenital Myopathy 1B, Autosomal Recessive
Joint laxity, Recurrent respiratory infections, Facial palsy, High palate, Pulmonary hypoplasia, ... OMIM:255320
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, ... ORPHA:79328
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Conductive hearing impairment, Ve... OMIM:157800
Stuve-Wiedemann Syndrome 1
Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue,... OMIM:601559
Alagille Syndrome 1
Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicoureteral reflux,... OMIM:118450
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... ORPHA:93929
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Patent ductus arteriosus, Renal cy... ORPHA:488618
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep... OMIM:173900
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Anteriorly placed anus, High palate, Narrow chest, Distally placed thumb, Encephalo... OMIM:619148
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Pulmonary hypoplasia,... OMIM:616867
Microphthalmia, Syndromic 9
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Micrognathia, Agenesis of... OMIM:601186
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... ORPHA:794
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, M... ORPHA:1724
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Scapular winging,... OMIM:620369
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda... ORPHA:1454
Tetrasomy 9P
Glue ear, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Pate... ORPHA:3310
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment ORPHA:99014
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... ORPHA:139466
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Kyphosis, Optic atrophy, Dilatation of the renal pelvis, Bronchiectasis, Knee flexi... OMIM:619708
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, Aminoaciduria, High palate, Hypospadias, Wide anterior fontane... OMIM:214100
Sialidosis Type 2
Kyphosis, Nephropathy, Umbilical hernia, Hearing impairment ORPHA:87876
Tonne-Kalscheuer Syndrome
Hypospadias, Micrognathia, Velopharyngeal insufficiency, Abnormal heart morphology, Pulmonary hyp... OMIM:300978
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Hearing impairment, Abnormality of the auditory canal ORPHA:319199
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Metatarsus adductus, Optic nerve dysplasia, Cleft palate, Abnormal heart morphology... OMIM:214110
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Crouzon Syndrome
Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Narrow palate, Multiple suture craniosy... ORPHA:207
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Hypospadias, Posteriorly rotated ears, Aplasia/Hy... OMIM:613803
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Micrognathia, Hemivertebrae, Anotia, Conductive hearing ... OMIM:164210
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Ventricular septal defect, Micrognathia, Metatarsus adductus, Wide anterior fontanel... OMIM:614866
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Winchester Syndrome
Kyphosis OMIM:277950
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Syndactyly, Patent ductus ar... OMIM:249000
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Pectus excavatum, Respirator... OMIM:618975
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Fing... ORPHA:1596
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis, Hearing impairment OMIM:610743
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria, Cardiomyopathy OMIM:619003
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... OMIM:606170
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... ORPHA:233
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolap... ORPHA:904
Renal Agenesis, Bilateral
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... ORPHA:1848
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Proteinuria, Abnormality of the kidney, Renal agenesis, Kyphosis, Chronic ... ORPHA:261222
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Protruding ear ORPHA:85317
Tetrasomy 5P
Recurrent respiratory infections, Overlapping toe, Posteriorly rotated ears, Short hallux, Short ... ORPHA:3309
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Multicystic kidney dysplasia, Intestinal... ORPHA:1052
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormality of the... ORPHA:3409
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Hydrocephalu... OMIM:608091
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Ck Syndrome
Kyphosis, Posteriorly rotated ears, Scoliosis, Hyperlordosis OMIM:300831
Fraser Syndrome
Hypoplasia of penis, Abnormal lung lobation, Urethral atresia, Vertebral segmentation defect, Hig... ORPHA:2052
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Urinary incontinence, Scoliosis, Hearing impairment OMIM:614409
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... ORPHA:96334
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoaciduria, Gastroesophage... ORPHA:534
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... OMIM:208540
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Upper limb undergrowth, Thoracic hypoplasia OMIM:613124
Epidermal Nevus Syndrome
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia ORPHA:35125
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling OMIM:601539
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Scoliosis ORPHA:79327
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Restrictive Dermopathy 1
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal ... OMIM:275210
Joubert Syndrome 1
Optic disc pallor, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst... OMIM:213300
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect... ORPHA:1662
Matthew-Wood Syndrome
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pulmonary hypopl... ORPHA:2470
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Protruding ear, Scoliosis, Macrotia ORPHA:2471
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614862
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix... ORPHA:3082
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon... ORPHA:445038
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... ORPHA:352540
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Situs inversus totalis, Abnormal cranial ... ORPHA:990
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... OMIM:236700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... OMIM:615503
Hemifacial Atrophy, Progressive
Kyphosis, Microtia, Horner syndrome OMIM:141300
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Peters Plus Syndrome
Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu... ORPHA:709
Diphallia
Ureteral duplication, Epispadias, Hemivertebrae, Duplicated colon, Atrial septal defect, Bladder ... ORPHA:227
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Myelomeningoce... OMIM:311200
D-Bifunctional Protein Deficiency
Osteopenia, Micrognathia, Decreased nerve conduction velocity, Pectus excavatum, Split hand, Rena... OMIM:261515
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Low-set ears, Short neck ORPHA:178148
3Mc Syndrome 2
Hypospadias, Hearing impairment, Limited elbow movement, Craniosynostosis, Hip dislocation, Horse... OMIM:265050
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte... ORPHA:1556
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Arima Syndrome
Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea... OMIM:243910
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Umbilical hernia, Scoliosis, Low-set ears OMIM:615834
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal... ORPHA:1297
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis, Protruding ear OMIM:300861
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... OMIM:615709
Mesomelia-Synostoses Syndrome
Microretrognathia, Progressive forearm bowing, Hearing impairment, Micrognathia, Micromelia, Shor... OMIM:600383
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Macrotia, Sens... OMIM:617107
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Hydrocephalus, Scoliosis, Low-set ... OMIM:619951
Kabuki Syndrome 1
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Atrial septal defect, Prom... OMIM:147920
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept... OMIM:300855
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, P... ORPHA:93111
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, High pala... ORPHA:199
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Sandal gap, Micrognathia, Pyloric stenosis, Rectal prolapse, Atelectasi... OMIM:613177
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia OMIM:618174
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencepha... ORPHA:93274
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Microphthalmia, Syndromic 1
Bicuspid aortic valve, High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent... OMIM:309800
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Umbilical hernia, Scoliosis, Low-set ears ORPHA:352490
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... ORPHA:2750
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Sensorineural hearing impairment, Urinary incontinence, Scoliosis ORPHA:464282
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Multiple prenatal fractures, Patent ductus arte... OMIM:616866
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Baralle-Macken Syndrome
Kyphosis, Urinary incontinence OMIM:619255
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Renal Agenesis
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... ORPHA:411709
Emanuel Syndrome
Sacral dimple, Recurrent urinary tract infections, Unilateral renal agenesis, Kyphosis, Hydroceph... OMIM:609029
Proteus Syndrome
Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vertebral bodies, Renal ... ORPHA:744
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Nephrolithiasis, Spinal rigidity ORPHA:352447
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum... OMIM:219730
C Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Multicystic kidney dysplasia, M... ORPHA:1308
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Contracture of the distal interpha... ORPHA:83617
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... ORPHA:538
15Q24 Microdeletion Syndrome
Hypospadias, Kyphosis, Myelomeningocele, Microphallus, Scoliosis, Abnormality of the outer ear, H... ORPHA:94065
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Shashi-Pena Syndrome
Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Cupped ear, Low-set ears, Scoliosi... OMIM:617190
3C Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hydrocephalus, Optic at... ORPHA:7
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red... ORPHA:228308
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Hyperlordosis, External ear malforma... ORPHA:568
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction velocity, Kyphosis, ... ORPHA:812
Alpha-Mannosidosis
Short neck, Kyphosis, Abnormal helix morphology, Scoliosis, Chronic otitis media, Macrotia, Heari... ORPHA:61
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Scoliosis, Abnormality of the cervical spine, Abnormality of peripheral nerve conduction ORPHA:48431
Joubert Syndrome 39
Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ... OMIM:619562
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... ORPHA:63260
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Sensorineural hearing impairment, Polycystic ovaries, Hyperlordosis ORPHA:3085
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Renal insufficiency, Recurrent urinary tract inf... ORPHA:731
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Renal agenesis, Pulmonary arte... OMIM:611812
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Micrognathia, Anteriorly placed anus, Cutaneous syndactyly o... OMIM:615546
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst OMIM:617100
Neuromuscular Oculoauditory Syndrome
Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ... OMIM:618733
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing impairment, Sta... OMIM:613159
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Branchiooculofacial Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Renal cyst, Gastroesophageal reflux, Condu... OMIM:113620
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Short neck, Hyperlordosis, Sens... ORPHA:2789
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d... OMIM:268300
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Abnormal pinna morphology, Low-set ears ORPHA:77300
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia OMIM:211890
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Spina bifida, Flexion contracture, Osteoporos... ORPHA:2671
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Meckel Syndrome
Low-set, posteriorly rotated ears, Ureteral duplication, Bowing of the long bones, Multicystic ki... ORPHA:564
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Umbilical hernia, Scoliosis ORPHA:2181
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Low-set ears, Renal dysplasia OMIM:191830
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Kyphosis, Abnormal form of the vertebral bodies, Large earlobe... ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Micropenis, Abnormal pinna morphology, Hypospadias OMIM:300354
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stif... ORPHA:93
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Micrognat... OMIM:620025
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... ORPHA:157
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa... OMIM:208150
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Posteriorly rotated ears, Short neck, Abnormality of the mi... OMIM:130720
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Abnormality of the upper urinary tract, Kyphosis, Aplasia/Hypoplasia of the ear... ORPHA:2916
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Patent foramen ovale, Finger synd... OMIM:256520
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Frank-Ter Haar Syndrome
Kyphosis, Protruding ear, Scoliosis, Umbilical hernia, Beaking of vertebral bodies ORPHA:137834
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia, Micrognathia OMIM:601809
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... OMIM:253010
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Kyphosis, Scoliosis, Micropenis, Macrotia, Hydronephrosis ORPHA:364028
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Schaaf-Yang Syndrome
Kyphosis, Micropenis, Scoliosis, Low-set ears OMIM:615547
Von Hippel-Lindau Disease
Back pain, Papilledema, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Vert... ORPHA:892
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Wieacker-Wolff Syndrome, Female-Restricted
Posteriorly rotated ears, Facial palsy, Urinary incontinence, Short neck, Kyphosis, Scoliosis, Lo... OMIM:301041
Zimmermann-Laband Syndrome 2
Kyphosis, Sensorineural hearing impairment, Short neck OMIM:616455
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Kyphosis, Optic atrophy, Abnormal localiz... ORPHA:2510
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... ORPHA:261265
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Protruding ear, Vertebral segmenta... ORPHA:96169
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Thoracolumbar kyphosis, Hypoplasia of t... OMIM:253220
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... ORPHA:99880
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Patent ductus arteriosus, Renal cyst, Low-set ears, Mitral stenosis, Re... OMIM:617260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:606612
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, High, narrow palate, Abnormality of the ear, Conductive hearing impairm... ORPHA:2753
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... ORPHA:143
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Hydrocephalus, Platyspondyly, Neonatal deat... OMIM:616482
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Scoliosis, Low-set ears, Hearing impairment ORPHA:238750
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Uplifted earlobe, Micrognathia, Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, S... OMIM:618548
Meacham Syndrome
Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Pa... OMIM:608978
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Scoliosis OMIM:607155
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Micrognathia, Ankylosis, Flexion contractur... OMIM:616503
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Sensorineural hearing impairment, Death in early adulthood, Scoliosis ORPHA:79107
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Uruguay Faciocardiomusculoskeletal Syndrome
Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Scoliosis, Low-set ears OMIM:300280
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Tr... ORPHA:861
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Hypospadias, Kyphoscoliosis, Renal agenesis, Kyphosis, Sensorineural he... OMIM:301040
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Cervical spinal canal steno... ORPHA:15
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Flexion contracture, Optic atrophy, Renal cortical cysts OMIM:609180
Immunodeficiency 96
Recurrent otitis media, Multicystic kidney dysplasia OMIM:619774
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,... ORPHA:582
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly placed anus, Gastroesophagea... OMIM:612289
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
19P13.12 Microdeletion Syndrome
Hypospadias, Short neck, External ear malformation, Kyphosis, Sensorineural hearing impairment, L... ORPHA:254346
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Gastritis, Pat... ORPHA:84064
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Tetraamelia Syndrome 1
Renal agenesis, Micrognathia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, U... OMIM:273395
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Micrognathia, Flexion contracture, Renal cyst, Anteriorly... OMIM:601803
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Facial palsy, Spinal rigidity OMIM:615084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc... OMIM:615287
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena... OMIM:308205
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Vertigo, Sensorineural hearing impairment,... OMIM:193300
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Mucopolysacchariduria, Chronic otitis media, Hearin... ORPHA:583
Congenital Diaphragmatic Hernia
Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation ORPHA:2140
Ruvalcaba Syndrome
Kyphosis, Abnormal localization of kidney, Hematuria, Scoliosis, Abnormal vertebral epiphysis mor... ORPHA:3121
Crisponi Syndrome
Kyphosis, Scoliosis, Death in infancy ORPHA:1545
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Abnormal pinna morphology, Kyphosis, Scoliosis, Spina bifida occulta OMIM:618291
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Renal cyst, Anteriorly placed anus... ORPHA:495875
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Scoliosis, Short neck ORPHA:3191
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, ... OMIM:313850
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia ORPHA:236
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear, Sco... ORPHA:2616
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Sensorineural hearing impairment, Patent ductus arteriosus, Megacystis, Py... OMIM:619351
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... ORPHA:2237
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis, Protruding ear OMIM:108145
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Fountain Syndrome
Spina bifida, Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, ... ORPHA:3219
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Small hand, Pulmonary hypopla... OMIM:145420
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... ORPHA:805
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Uplifted earlobe, Kyphosis, Low-set ears, Scoliosis, Hydronephrosis OMIM:616449
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate, Renal cyst, ... ORPHA:137675
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Mody
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy ORPHA:552
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Sensorineural hearing impairment, Scoliosis ORPHA:1883
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Tracheomalacia, Cardiomegaly, Esophageal atresia, Patent du... ORPHA:95430
Mpdu1-Cdg
Wide anterior fontanel, Optic atrophy, Absence of acoustic reflex, Renal cortical cysts ORPHA:79323
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Low-set ears OMIM:314580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis OMIM:618138
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Renal cyst, Renal cell ca... OMIM:613254
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Heparan sulfate excretion in urine, Kyphosis, Hydrocephalus, Dermatan su... OMIM:309900
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Posterior... ORPHA:116
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Kyphosis, Scoliosis ORPHA:2047
Pelizaeus-Merzbacher Disease
Kyphosis, Optic atrophy, Abnormality of the urinary system, Scoliosis, Hearing impairment ORPHA:702
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus ... ORPHA:261537
Stickler Syndrome, Type I
Kyphosis, Sensorineural hearing impairment, Platyspondyly, Scoliosis, Morbus Scheuermann, Conduct... OMIM:108300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Low-set ears, Hydronephrosis... ORPHA:140
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Gastrointestina... ORPHA:2152
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Hearing impairment ORPHA:324737
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platysp... ORPHA:1860
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia OMIM:267430
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Kyphosis, Sensorineural hearing impairment, Scoliosis, Death in childhood, Cranial ... OMIM:211530
Hurler Syndrome
Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process, Kyphosis, Hyd... OMIM:607014
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis, Neonatal... OMIM:620351
Arthrogryposis, Distal, Type 4
Hypoplastic helices, Kyphosis, Scoliosis, Lumbar scoliosis OMIM:609128
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Short tibia OMIM:620306
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio... ORPHA:1005
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Anteverted ears, Kyphosis, S... OMIM:610443
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Facial diplegia, Scoliosis ORPHA:171436
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Ullrich Congenital Muscular Dystrophy 1
Facial palsy, Spinal rigidity, Kyphosis, Protruding ear, Scoliosis OMIM:254090
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Abnormality of the urinary ... OMIM:230500
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus ... ORPHA:261552
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Kyphosis, Dermatan sulfate excretion in urine, Scoliosis, Umb... OMIM:607015
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Kyphosis, Optic atrophy, Scoliosis OMIM:609541
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Arthrogryposis multiplex congenita,... ORPHA:86822
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo... ORPHA:84081
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Kyphosis, Scoliosis, Protruding ear ORPHA:261144
Alstrom Syndrome
Renal insufficiency, Kyphosis, Tubulointerstitial nephritis, Scoliosis, Otitis media, Progressive... OMIM:203800
Pearson Syndrome
Renal insufficiency, Median cleft lip and palate, Proteinuria, Lacticaciduria, Renal cyst, Abnorm... ORPHA:699
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Fucosidosis
Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae, Hearing impairment ORPHA:349
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Kyphosis, Abnormal earlobe morphology, Scoliosis ORPHA:85293
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Nephrolithiasis, Biconcave vertebral bodies OMIM:219090
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Protruding ear, Scoliosis, Low-set ears OMIM:618443
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Micrognathia, Microtia, Pulmonary hypoplasia, Low-set ears, Dysphagia, Arthrogrypos... OMIM:608013
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:181405
Pelger-Huet Anomaly
Recurrent otitis media, Kyphosis, Umbilical hernia OMIM:169400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Hydrocephalus, Scoliosis, Micropenis, Hearing impairment ORPHA:500055
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis, Low-set ears ORPHA:261190
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment OMIM:166220
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment OMIM:259420
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hydroureter, Posteriorly rotated ears, Unilateral renal agenesis, Short neck, P... OMIM:619194
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Jaberi-Elahi Syndrome
Kyphosis, Optic atrophy, Protruding ear, Scoliosis, Low-set ears OMIM:617988
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Sensorineural hearing impairment, Scoliosis OMIM:615381
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Overfolded helix, Macrotia, Scoliosis OMIM:617061
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Sensorineural hearing impairment, Hypercalciur... OMIM:239000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Platyspondyly, Low... ORPHA:354
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:128100
Schwartz-Jampel Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Abnormally ossified vertebrae, Hyperlordosis... ORPHA:800
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Urinary incontinence, Scoliosis ORPHA:88644
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Cockayne Syndrome Type 2
Kyphosis, Macrotia, Scoliosis, Hearing impairment ORPHA:90322
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Protruding ear, Prominent coccy... OMIM:300966
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Hydrocephalus OMIM:603387
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Low-set ears ORPHA:404440
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Anal stenosis, Hypospadias, Tracheomalacia, Micrognathia, Renal hypoplasi... ORPHA:314679
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Coffin-Lowry Syndrome
Death in early adulthood, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Abnormal for... ORPHA:192
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... ORPHA:90324
Mend Syndrome
Sacral dimple, Crossed fused renal ectopia, Posteriorly rotated ears, Kyphosis, Hydrocephalus, Lo... OMIM:300960
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcin... OMIM:130650
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Low-set ears, Hydronephrosis ORPHA:464738
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Facial palsy, Scoliosis OMIM:617143
Cdags Syndrome
Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Hypospadias OMIM:603116
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Sensorineural hearing impairment, Hypospadias OMIM:609944
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Submucous cleft hard palate, Pulmonary hypoplasia, Cleft palate ORPHA:250999
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Hydrocephalus, Optic atrophy, Platyspondyly OMIM:618476
Joubert Syndrome 5
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... OMIM:610188
Hennekam Syndrome
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, E... ORPHA:2136
Cowden Syndrome 5
Kyphosis, Ovarian cyst, Scoliosis, Hearing impairment OMIM:615108
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Kyphoscoliosis, Ectopic kidney, Kyphosis, Cupped ear, Low-set... ORPHA:3063
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Recurrent urinary tract infections, Hypospadias, Renal duplication, Spina bifida, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Recurrent urinary tract infections, Hypospadias, Renal duplication, Spina bifida, ... ORPHA:363958
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Low-set ears, Vesicoureteral reflux, Micropenis, ... OMIM:616894
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment OMIM:619557
Dpagt1-Cdg
Arachnodactyly, Flexion contracture, Osteoporosis, Optic atrophy, Pulmonary hypoplasia, Scoliosis... ORPHA:86309
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Kyphosis, Protruding ear, Scoliosis, Chronic otitis media, Hearing impair... ORPHA:261250
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Sensorineural hearing impairment, Scoliosis, Protruding ear ORPHA:2479
Monosomy 9Q22.3
Nephroblastoma, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Low-set... ORPHA:77301
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Low-set ears, Short neck ORPHA:420794
Cowden Syndrome 6
Kyphosis, Ovarian cyst, Scoliosis, Hearing impairment OMIM:615109
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Micropenis, Hypospadias, Scoliosis OMIM:619718
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hydrocephalus OMIM:616294
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Proteinuria, Abnormal pinna ... ORPHA:79318
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... OMIM:271700
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Polycystic kidney dysplasia ORPHA:53035
Pycnodysostosis
Hyperlordosis, Kyphosis, Mild conductive hearing impairment, Spondylolysis, Scoliosis, Spondyloli... ORPHA:763
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Abnormality of the kidney, Kyphosi... ORPHA:280
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Microtia, Cam... OMIM:616006
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Hypospadias, Scoliosis OMIM:617602
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal sensory nerve conduction velocity, Scoliosis ORPHA:88628
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br... ORPHA:980
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Gaucher Disease Type 1
Hematuria, Kyphosis, Vertebral compression fracture, Proteinuria ORPHA:77259
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Kyphosis, Posteriorly rotated ears, Scoliosis ORPHA:2215
Spondyloenchondrodysplasia
Proteinuria, Kyphosis, Chronic kidney disease, Hematuria, Platyspondyly ORPHA:1855
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscolio... ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Posteriorly rotated ears, Hyperlordosis, Kyphosis, Scoliosis, Low-se... OMIM:617011
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo... ORPHA:99050
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scoliosis OMIM:162300
Noonan Syndrome 14
Kyphosis, Posteriorly rotated ears, Low-set ears, Short neck OMIM:619745
Caroli Syndrome
Cholangiocarcinoma, Abnormality of the kidney, Hematemesis, Esophageal varix, Melena, Polycystic ... ORPHA:480520
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocephalus, Abnormal a... ORPHA:58
Cowden Syndrome 1
Kyphosis, Ovarian cyst, Scoliosis, Hearing impairment OMIM:158350
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Low-set ears OMIM:619244
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Micropenis, Scoliosis, Death in childhood OMIM:619005
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Cupped ear, Hemivertebrae, Low-set ears, Scoliosis, Overfolded helix OMIM:618223
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:133540
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Urinary incontinence, Scoliosis ORPHA:476126
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Facial palsy, Kyphosis, Epispadias, Hydrocephalus, Scolio... ORPHA:2658
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Kyphosis, Hydrocephalus, Abnormal form of the vertebral... ORPHA:3042
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Kyphosis OMIM:610489
Mgat2-Cdg
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Kyphosis, Abnormal earlobe morpholog... ORPHA:79329
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Kyphosis, Optic atrophy, Hemivertebrae, Horseshoe kidney, Pr... OMIM:617140
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst OMIM:610475
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Optic atrophy, Scoliosis OMIM:618493
Cohen Syndrome
Kyphosis, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Sc... ORPHA:193
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Kyphosis, Optic atrophy, Enuresis nocturna, Pollakisuria ORPHA:171629
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis, Low-set ears ORPHA:251014
Camurati-Engelmann Disease
Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the vertebral column, Urinar... ORPHA:1328
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Umbilical hernia, Macrotia ORPHA:536532
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Occipital Horn Syndrome
Orthostatic hypotension, Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hyd... OMIM:304150
Cockayne Syndrome A
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:216400
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis, Protruding ear OMIM:613454
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Scol... ORPHA:2769
Weaver Syndrome
Kyphosis, Macrotia, Umbilical hernia, Scoliosis OMIM:277590
Triosephosphate Isomerase Deficiency
Optic disc pallor, Death in adolescence, Kyphosis, Death in infancy OMIM:615512
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins... ORPHA:191
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Kyphosis, Optic atrophy, Low-set ears OMIM:617527
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Kyphos... ORPHA:268261
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Micropenis, Scoliosis ORPHA:398069
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias, Hearing impairment ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis, Posteriorly rotated ears, Otitis media OMIM:618050
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Kyphosis, Sensorineural hearing impairment, Optic atrophy ORPHA:521426
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Enlarged polycystic ovaries, Kyphosis, Rena... ORPHA:201
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Protruding ear, Prominent coc... OMIM:249420
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Prader-Willi Syndrome
Kyphosis, Micropenis, Scoliosis OMIM:176270
Atelis Syndrome 2
Kyphosis, Sacral dimple, Low-set ears, Protruding ear OMIM:620185
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Protruding ear OMIM:619123
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Hydrocephalus OMIM:616914
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Hypospadias, Kyphosis, Hydrocephalus, Cupped ear, Protruding ear, Abnormal curvature o... OMIM:619475
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Kyphosis, Bicarbonaturia, Proximal renal tubular acidosis... OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... ORPHA:2273
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Abnormal pinna morphology, Hypospadias, Kyphosis, Sensorineural ... OMIM:194190
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Hydrocephalus, Low-set ears ORPHA:401973
Sotos Syndrome
Sacrococcygeal teratoma, Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hyposp... ORPHA:821
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Urinary incontinence, Scoliosis OMIM:619482
Mucolipidosis Type Ii
Kyphosis, Sensorineural hearing impairment, Otitis media, Conductive hearing impairment, Umbilica... ORPHA:576
Acromegaly
Dysuria, Kyphosis, Wide penis, Long penis, Spinal canal stenosis, Macrotia ORPHA:963
Ramon Syndrome
Optic disc pallor, Kyphosis, Scoliosis, Hearing impairment OMIM:266270
Occipital Horn Syndrome
Recurrent urinary tract infections, Kyphosis, Bladder diverticulum, Platyspondyly, Scoliosis ORPHA:198
Cleidocranial Dysplasia 1
Hearing impairment, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis ORPHA:394
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Hearing impairment ORPHA:2232
Aspartylglucosaminuria
Aspartylglucosaminuria, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral b... OMIM:208400
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Hearing abnormality, Kyphosis, Hydrocephalus, Scoliosis, ... ORPHA:636
Somatomammotropinoma
Dysuria, Kyphosis, Macrotia, Spinal canal stenosis ORPHA:314769
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... ORPHA:649
Stickler Syndrome
Kyphosis, Sensorineural hearing impairment, Spinal canal stenosis, Abnormal form of the vertebral... ORPHA:828
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Marfan Syndrome
Kyphosis, Meningocele, Scoliosis, Spondylolisthesis ORPHA:558
17Q11 Microdeletion Syndrome
Kyphosis, Renovascular hypertension, Abnormality of the vertebral column, Beaking of vertebral bo... ORPHA:97685
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Viss Syndrome
Exostosis of the external auditory canal, Posteriorly rotated ears, Kyphosis, Cupped ear, Low-set... OMIM:619472
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300967
Wrinkly Skin Syndrome
Kyphosis, Umbilical hernia, Scoliosis, Low-set ears OMIM:278250
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Otitis media, Se... ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Primrose Syndrome
Calcification of the auricular cartilage, Kyphosis, Superiorly displaced ears, Irregular vertebra... OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fat4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fat4.

No publications found that use IMPC mice or data for Fat4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fat4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fat4em1(IMPC)Marc Deletion Mice
Fat4tm43008(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fat4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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