Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
T-box18
Synonyms:
2810404D13Rik,  2810012F10Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tbx18 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tbx18 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400

The table below shows human diseases predicted to be associated to Tbx18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... ORPHA:1797
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Abnormality of the e... ORPHA:3268
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, K... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... ORPHA:2790
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Short thorax, Camptodactyly of finger, Umbilical hernia, R... ORPHA:2311
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib ... ORPHA:1988
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ve... OMIM:618845
Varicose Veins
Varicose veins OMIM:192200
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a... ORPHA:40
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Radioulnar synostosis, Elbow ankylosis, Abnormality of the upper urina... ORPHA:3266
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... ORPHA:2970
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the knee, Abnormality of the ankle, Abnormal vertebral morphology ORPHA:163665
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Camp... OMIM:619751
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis OMIM:602271
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis OMIM:614688
Succinic Acidemia
Respiratory distress OMIM:600335
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... OMIM:604864
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyl... ORPHA:2635
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Costochondral joint sclerosis, Enlargement o... OMIM:609052
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... OMIM:102510
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Scolios... OMIM:259440
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu... OMIM:614399
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula ORPHA:1053
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Congenita... ORPHA:261197
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... OMIM:614954
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hemiverteb... ORPHA:377
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Death in infancy, Short ribs, Trident acetabulum... OMIM:617405
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Kyphosis OMIM:618393
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... OMIM:618395
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Perching Syndrome
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture OMIM:617055
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Shallow acetabular fossae, Butterfly vertebrae, Thoracic scoliosis, Kyphoscoli... OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Abnormal sternum morphology, Camptodactyly of finger, Pt... ORPHA:2990
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Optic atrophy, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypopl... ORPHA:168549
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Renal ... OMIM:615993
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... OMIM:271650
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology ORPHA:280195
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosis OMIM:255710
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib... OMIM:206900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ureter, Hyperlordosis, Abnormal rib morphology, ... ORPHA:2522
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ... OMIM:300580
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Penoscrotal Transposition
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Cardiomy... ORPHA:2842
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal joint morphology, Genu valg... ORPHA:93351
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Flat acetabular ro... OMIM:609616
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical her... OMIM:269250
Aicardi Syndrome
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... ORPHA:50
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress, Increased level of methylsuccinic acid in urine, Myopathy, ... ORPHA:26792
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Pectus carinatum, Nephronophthisis, Scoliosis, Biconvex vertebral... OMIM:184260
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Short ribs, Neonatal death, Wide-c... OMIM:187601
Aicardi Syndrome
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... OMIM:304050
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormality of the elbow ORPHA:1486
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Short ribs, Stillbirth, Advanced ossification of car... OMIM:215045
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Scoliosis, Hypospadias OMIM:300934
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Thin ribs, Respiratory distress, Glandular hypospadia... OMIM:300219
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death OMIM:253310
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... ORPHA:2319
Holt-Oram Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Atrioventricular canal defect, Ventricular ... ORPHA:392
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Respiratory distress, Broad ribs, Ventricular septal defect, Short r... ORPHA:2519
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Laryngomalacia
Respiratory distress OMIM:150280
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses ORPHA:1423
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar d... OMIM:253000
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Renal dysplasia, Distal urethral duplication, Ventricular septal d... OMIM:146510
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Immunodeficiency 95
Respiratory distress OMIM:619773
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Delayed cranial suture closure ORPHA:1832
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel anomaly, Hemivertebra... OMIM:213980
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Joint d... ORPHA:628
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Odontochondrodysplasia
Platyspondyly, Narrow chest, Respiratory distress, Death in infancy, Scoliosis, Patent ductus art... ORPHA:166272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... OMIM:620011
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... OMIM:184252
Kbg Syndrome
Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2021
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... OMIM:608728
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology ORPHA:276422
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Death in adolescence, Papilledema, Thickened ribs OMIM:122860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Multicystic kidney dysplasia, Synostosis of carpal bones, Elbow dislocation, Ca... ORPHA:1507
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... ORPHA:1834
Trisomy 13
Narrow chest, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Ven... ORPHA:3378
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, C1-C2 subluxati... OMIM:184250
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis, Cor pulmonale OMIM:263000
Caudal Regression Syndrome
Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret... ORPHA:3027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Flat acetabular r... ORPHA:3168
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax ORPHA:93298
Cog1-Cdg
Posterior rib gap, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect, Rib fusion... ORPHA:263508
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Spinal canal stenosis, Genu val... ORPHA:582
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... ORPHA:239
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Abnormal rib morpholog... ORPHA:474
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiati... OMIM:616733
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Myelomeningocele, Butt... ORPHA:2876
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Death in infancy OMIM:616974
Alkaptonuria
Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r... OMIM:203500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Respiratory distress, Horizontal ribs, Ventricular septal defe... OMIM:617895
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Abnormal cartilage morphology, Short ribs, Hypoplastic vertebral bod... ORPHA:2347
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ... ORPHA:280
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Wormian bones, Vertebral compression fra... OMIM:617952
Prune Belly Syndrome
Congenital hip dislocation, Pectus carinatum, Hydroureter, Hydronephrosis, Pectus excavatum, Apla... OMIM:100100
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... OMIM:166210
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi... OMIM:228520
Diaphanospondylodysostosis
Thoracic hypoplasia, Nephrogenic rest, Respiratory distress, Horseshoe kidney, Nephroblastomatosi... OMIM:608022
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Situs inversus totalis, Osteoarthritis, Dextrocardia, Congenital pseudoarthrosis o... ORPHA:66630
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral ... OMIM:615633
Osteogenesis Imperfecta, Type Iii
Thin ribs, Protrusio acetabuli, Biconcave vertebral bodies, Wormian bones, Scoliosis, Kyphosis, W... OMIM:259420
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Pectus carinatum, Respiratory distre... OMIM:617303
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Wormian bones, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:2050
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Thoracic hemivertebrae, Sacral dimple, Delayed cranial suture closure, Umbili... OMIM:268310
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Kyphoscoliosis, Hydronephr... ORPHA:97360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Genu varum, Osteoarthritis, Flared... OMIM:602111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Neonatal de... OMIM:265380
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology ORPHA:50251
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis ORPHA:1488
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Generalized amyotrophy, Decreased muscle mass, Respiratory distress, ... OMIM:271225
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Respiratory distress, Broad ribs, Ge... OMIM:613848
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Narrow chest, Respiratory distress, Irregular ossification... OMIM:260400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida, Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Vesicourete... ORPHA:2484
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Scoliosis, Death in infancy OMIM:615042
Femoral-Facial Syndrome
Hypoplastic acetabulae, Absent vertebra, Renal agenesis, Abnormal renal collecting system morphol... OMIM:134780
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Wormian bones, Sprengel anomal... ORPHA:2097
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atrophy, Weakness of fac... ORPHA:254875
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Genu valgum, Atrial septal defect ORPHA:1035
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Thoracic hypoplasia, Short ribs, N... OMIM:187600
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Thin ribs OMIM:300863
3M Syndrome
Thin ribs, Congenital hip dislocation, Enlarged thorax, Increased vertebral height, Horizontal ri... ORPHA:2616
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Thin ribs, Wide cranial sut... OMIM:616294
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs, Umbilical hernia OMIM:252900
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Stillbirth OMIM:200610
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrophy OMIM:613561
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor... OMIM:300232
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... ORPHA:174
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies OMIM:620601
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormal rib morphology ORPHA:195
Dextrocardia
Congenital hip dislocation, Abnormal heart morphology, Abnormality of the ureter, Situs inversus ... ORPHA:1666
Achondrogenesis Type 1A
Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax ORPHA:93299
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... ORPHA:254864
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Hypoplasia of penis, Abnormal rib morphology, Ventricular septal defect ORPHA:2772
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Facial palsy, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... ORPHA:79345
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrop... OMIM:218600
Kniest Dysplasia
Platyspondyly, Respiratory distress, Hip contracture, Lumbar kyphoscoliosis, Genu varum, Pectus e... OMIM:156550
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Zttk Syndrome
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Ventricular septal defect, Rib fusion... OMIM:617140
Alagille Syndrome
Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmentation defect, ... ORPHA:52
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Respiratory distress, Hypertrophic cardiomyopathy, Endocar... OMIM:212140
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Genu recurvatum, Hypoplasia of the odontoid process, Uln... OMIM:177170
Dysosteosclerosis
Platyspondyly, Optic atrophy, Narrow chest, Facial paralysis, Broad ribs, Increased intervertebra... OMIM:224300
Proteus Syndrome
Venous malformation OMIM:176920
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... ORPHA:2140
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Radio-Renal Syndrome
Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Renal agenesis, Respiratory ... ORPHA:3015
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Abnormal vertebral morphology, Hypoplastic left heart, Respiratory distres... ORPHA:210122
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Ellis Van Creveld Syndrome
Narrow chest, Hydroureter, Synostosis of carpal bones, Short thorax, Atrioventricular canal defec... ORPHA:289
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
1P36 Deletion Syndrome
Dilated cardiomyopathy, Delayed cranial suture closure, Camptodactyly of finger, Abnormal heart v... ORPHA:1606
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasia, Central vertebral hypoplasia, ... ORPHA:93352
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature OMIM:312150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Death in infancy ORPHA:163966
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Venous insufficiency, Atrial septal defect, Patent ductus ar... ORPHA:90308
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, Muscular ventricular septal d... OMIM:157800
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Gm1-Gangliosidosis, Type I
Thickened ribs, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral ... OMIM:230500
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Right ventricular hypertrophy ORPHA:70589
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Multiple rib fractures, Wormian bones, Vertebral compression fracture OMIM:616229
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Hypoplasia of the odontoid process, Flat g... OMIM:223800
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar deviation of the wr... OMIM:253010
Campomelia, Cumming Type
Death in infancy, Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis OMIM:252930
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia, Renal dupli... OMIM:613309
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Respiratory distress, Undulate... OMIM:618188
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Delayed cranial suture closure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:619383
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Silver-Russell Syndrome 1
Delayed cranial suture closure, Abnormality of the ureter, Nephroblastoma, Urethral valve, Hyposp... OMIM:180860
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252920
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Pectus carinatum, Respiratory distress, Abnormal heart valve morphology, P... ORPHA:363705
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Stillbirth OMIM:276950
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature OMIM:253290
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Proximal tubulopathy, Aminoaciduria OMIM:612075
Mucopolysaccharidosis Type 6
Broad ribs, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Kyphosis, Respiratory distress, Lumbar hyperlordosis, Barrel-sha... OMIM:183900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Renal insufficiency, Cardiomyopathy ORPHA:79312
Three M Syndrome 2
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... OMIM:612921
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormality of the urethra, Abnormality of the upper urinary tract, Abnormal ri... ORPHA:2145
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Pectus carinatum, Respiratory distress, Heparan sulfate excretion in urine, Lumbar ... ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... OMIM:115197
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,... ORPHA:958
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ... OMIM:305620
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy... OMIM:604377
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... ORPHA:3258
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Respiratory distress, Hypertrophic cardiomyopathy, Hyperphosphaturia, ... OMIM:220110
Liposarcoma
Varicose veins ORPHA:69078
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Shoulder flexion contracture, Thoracic hypoplasia, Resp... OMIM:620369
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Missing ribs, Abnormal rib morphology, Septo-optic dysplasia, Abnormally ossified ... ORPHA:3301
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly ORPHA:85184
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Butterfly vertebrae, Patent foramen ovale, Short ribs, Micropenis, Hypospad... OMIM:607143
Cornelia De Lange Syndrome 6
Pectus carinatum, Posterior rib fusion, Scoliosis, Down-sloping shoulders OMIM:620568
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydro... OMIM:616897
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... OMIM:224690
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Narrow chest, Flat acetabular roof, Short thorax OMIM:617102
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Pulmonic stenosis ORPHA:2414
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae OMIM:619122
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,... ORPHA:596
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Respiratory distress, Knee flexion contracture, Ca... OMIM:608799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral ... OMIM:615398
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency ORPHA:624
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the ureter, Hypoplasia of penis, Kyphosis, Flexion contra... ORPHA:3409
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Ventricular ... ORPHA:2461
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Narrow chest, Respiratory distress, Lumbar hyperlordosis, Neonatal death, Central ... OMIM:616482
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Poland Syndrome
Ureterocele, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia, Renal hypoplasia... ORPHA:2911
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Pterygium, Neonatal death OMIM:224410
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, 3-Me... ORPHA:254913
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ... ORPHA:93473
Noonan Syndrome 4
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephros... OMIM:610733
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Craniometadiaphyseal Dysplasia
Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scoliosis, Genu varum, Wide anterior font... OMIM:269300
Trisomy 1Q
Multicystic kidney dysplasia, Abnormal rib morphology, Camptodactyly of finger, Congenital diaphr... ORPHA:261344
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Bell-shaped thorax, Horizontal ribs, Tachypnea, Atrial se... OMIM:614857
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Barrel-shaped chest,... OMIM:215140
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han... OMIM:211530
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Myopathy, Sprengel an... ORPHA:800
Atelosteogenesis, Type I
Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Thoracic platyspondyly, 1... OMIM:108720
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Respiratory distress, Atrioventricular canal defect, Horseshoe kidney, Horizontal r... OMIM:617088
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Hypoplasia of penis... ORPHA:2547
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Rib fusio... OMIM:194190
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Pericardial effusion ORPHA:411703
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency ORPHA:137608
Cantú Syndrome
Platyspondyly, Narrow chest, Umbilical hernia, Broad ribs, Cuboid-shaped vertebral bodies, Short ... ORPHA:1517
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Renal agenesis, Apla... OMIM:200980
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Barrel-shaped chest, Wormian bones, Vertebral compression fracture, Sco... OMIM:610915
Sclerosteosis 1
Optic atrophy, Broad clavicles, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Pa... OMIM:269500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Vesicoureteral reflux, Hydronephrosis, Craniosynostosis, Arthrogryposis multiplex cong... OMIM:618265
Renpenning Syndrome
Skeletal muscle atrophy, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Hypospadias ORPHA:3242
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... OMIM:306955
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Carpal bone hypoplasia, Cupped... OMIM:250420
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Elbow dislocation, Missing ribs, Abnorm... ORPHA:2769
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Scoliosis, Kyphoscoliosis ORPHA:37612
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Patent foramen ovale ORPHA:89844
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Camptodactyly of fin... OMIM:607872
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... OMIM:184253
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Abnormal heart morphology, Apnea, Hypoventilation, Prominent metopic ridge ORPHA:314655
Aneurysm-Osteoarthritis Syndrome
Pectus carinatum, Camptodactyly of finger, Abnormal heart morphology, Osteochondritis dissecans, ... ORPHA:284984
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Cleidocranial Dysplasia
Hypoplastic scapulae, Narrow chest, Genu valgum, Down-sloping shoulders, Short clavicles, Wormian... ORPHA:1452
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Flaring of lower rib c... OMIM:250250
Hypophosphatasia
Craniosynostosis, Narrow chest, Abnormal rib morphology ORPHA:436
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Short neck, Missing ribs, Neonatal death OMIM:619859
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Abnormal heart morphology, Lumbar hyp... ORPHA:500150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati... ORPHA:887
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... OMIM:618019
Basal Cell Nevus Syndrome 1
Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Short ribs, Supernumerary ribs, D... OMIM:109400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... ORPHA:96061
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of th... ORPHA:175
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Cubitus... OMIM:104350
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Cardiomyopathy, Respiratory distress, Abnormal cardiac septum morphology, Hypospadi... OMIM:217980
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Abnormal sternum morphology, Umbilical hernia, Osteochondritis dissecans, Int... OMIM:619656
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Vertebral segmentation defect, Re... ORPHA:1926
Achondroplasia
Thoracic hypoplasia, Respiratory distress, Lumbar hyperlordosis, Limited elbow extension, Death i... OMIM:100800
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Stroke, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins OMIM:125310
Osteogenesis Imperfecta, Type Vii
Narrow chest, Delayed cranial suture closure, Death in infancy, Wide cranial sutures, Wormian bon... OMIM:610682
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Varicose veins OMIM:263400
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Chitayat Syndrome
Respiratory distress, Pectus excavatum OMIM:617180
Severe Congenital Nemaline Myopathy
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Abnormal... ORPHA:171430
Koolen-De Vries Syndrome
Kyphosis, Vesicoureteral reflux, Renal duplication, Vertebral segmentation defect, Hydronephrosis... ORPHA:96169
Von Willebrand Disease
Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr... OMIM:231680
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, Short sternum,... OMIM:620076
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nipah Virus Disease
Respiratory distress ORPHA:99825
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Pectus carinatum, Multiple joint dislocation, Congenital kyphoscoliosis, Respirato... ORPHA:536467
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Acetabular spurs, Genu valgum, Horizontal ribs, Short ribs, Atria... OMIM:225500
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Diastasis recti, Ventricular septal defect, Kyphoscoliosis, Atrial... OMIM:608149
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Abnormal thorax morphology, Abnormal form of the vertebral bodies ORPHA:73230
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Thoracic scoliosis, Cardiomegaly, Left ventricular ... ORPHA:79330
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea ORPHA:178320
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Mgat2-Cdg
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:79329
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Situs inversus totalis, Dextrocardia OMIM:606763
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis OMIM:612776
Baller-Gerold Syndrome
Abnormality of the ureter, Vesicoureteral reflux, Aplasia/Hypoplasia of the patella, Hydronephros... ORPHA:1225
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory distress, Abnormal cardiomyocyte mor... ORPHA:367
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Scoliosis ORPHA:544503
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormality of the... ORPHA:261318
Congenital Myasthenic Syndrome
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:98914
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of ... ORPHA:90652
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Shallow ace... OMIM:201000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervical ribs, Respiratory dis... ORPHA:2255
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Respiratory distress, Stage 5 chronic kidney disease, Tub... OMIM:251000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Coat ... ORPHA:254534
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Abnormal renal morphology,... ORPHA:83
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Acromesomelic Dysplasia 4
Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora... OMIM:619636
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Exercise-induced rhabdomyolysis... ORPHA:26793
Avian Influenza
Acute kidney injury, Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Microphthalmia, Lenz Type
Hydroureter, Abnormal clavicle morphology, Camptodactyly of finger, Abnormal shoulder morphology,... ORPHA:568
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multi... OMIM:236500
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Micropenis, Ca... OMIM:157900
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abnormal heart morphology, Abnorm... ORPHA:244
Pallister-Hall Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Renal dysplasia, Atrioventricular canal defe... ORPHA:672
Campomelic Dysplasia
Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Contracture of the distal interp... OMIM:114290
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Codas Syndrome
Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies, Ventricular septa... ORPHA:1458
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Ventricular septal defect ORPHA:1770
Stt3B-Cdg
Respiratory distress ORPHA:370924
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Knee flexion contracture, W... OMIM:618733
Gaucher Disease, Perinatal Lethal
Thoracic hypoplasia, Respiratory distress, Apnea, Neonatal death, Cardiomegaly, Arthrogryposis mu... OMIM:608013
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Thin ribs, Joint contracture of the hand, Pectus carinatum, Umbilical hernia, Ge... OMIM:182212
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Respiratory distress, Biventricular hypertrophy, Hypertrophic cardi... OMIM:261740
Smith-Magenis Syndrome
Abnormal form of the vertebral bodies, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnor... ORPHA:819
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Abnormal joint morphology, Horsesho... ORPHA:322
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Ureteral s... ORPHA:2257
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Fetal megacystis OMIM:619362
Kyphomelic Dysplasia
Platyspondyly, Thoracic hypoplasia, Pterygium, Undulate ribs, Anterior rib cupping, Flat acetabul... OMIM:211350
Vater/Vacterl Association
Abnormal vertebral morphology, Renal agenesis, Abnormal sternum morphology, Renal dysplasia, Tetr... OMIM:192350
Caudal Duplication
Abnormal penis morphology, Bifid sacrum, Renal hypoplasia/aplasia, Vertebral segmentation defect,... ORPHA:1756
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Homocystinuria, Methylmalonic aciduria OMIM:250940
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae... OMIM:253200
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Aredyld Syndrome
Abnormality of the ureter, Scoliosis ORPHA:1133
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Respiratory distress, Hydronephrosis, Patent ductus arteriosus, Atrial septal de... OMIM:300968
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary val... OMIM:612863
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Horseshoe kidney, El... OMIM:117650
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Thoracolumbar scoliosis, De... ORPHA:2437
Alfadhel Syndrome
Horseshoe kidney, Nasal flaring OMIM:620655
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Pectus ... OMIM:271665
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Microlissencephaly-Micromelia Syndrome
Respiratory distress, 11 pairs of ribs, Fetal pyelectasis ORPHA:50810
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic... ORPHA:1900
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Optic disc coloboma, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral... OMIM:608940
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... OMIM:105120
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Myelomeningocele, Bell-shaped thorax, Death in infancy, Spina... ORPHA:1393
Lethal Congenital Contracture Syndrome 5
Thin ribs, Decreased nerve conduction velocity, Death in infancy OMIM:615368
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Respiratory distress, Abnormality of the ureter, Abnormal heart mor... ORPHA:798
Farber Disease
Skeletal muscle atrophy, Abnormal sternum morphology, Respiratory distress, Abnormality of the wr... ORPHA:333
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal renal collecting system morphology, Skel... ORPHA:17
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Agnathia-Otocephaly Complex
Respiratory distress, Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Situs inversus totalis ORPHA:990
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Aortic Arch Interruption
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, B... ORPHA:2299
Frontometaphyseal Dysplasia
Joint contracture of the hand, Hypoplasia of the musculature, Limited elbow movement, Sprengel an... ORPHA:1826
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Narrow chest, Kyphosis, Persistent open anterior fontane... OMIM:119600
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Monosomy 9Q22.3
Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Short neck, Abnormal r... ORPHA:77301
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Congenital hip dislocation, Narrow chest, Bilateral renal hypoplasia, ... ORPHA:508488
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, Apnea, Renal insufficiency, I... OMIM:608836
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Diastasis recti, Hydronephrosis, Wrist flexion contracture, Flexion contract... ORPHA:254528
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Micropenis ORPHA:456328
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring, Abnormal thorax morphology ORPHA:70587
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... OMIM:617516
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Lower limb muscle weakness, Respiratory distress, Hypertrophic cardiomyopathy... ORPHA:365
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Elbow dislocation, Camptodactyly of finger, Respiratory distress, Patellar apl... ORPHA:2554
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ribs, Cupped ... OMIM:607778
Restrictive Dermopathy 2
Respiratory distress, Short clavicles OMIM:619793
Severe Generalized Junctional Epidermolysis Bullosa
Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ... ORPHA:79404
Nestor-Guillermo Progeria Syndrome
Thin ribs, Limited elbow movement, Wide cranial sutures, Left atrial enlargement, Rib osteolysis,... OMIM:614008
Tetanus
Respiratory distress, Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:3299
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Myositis, Tachypne... ORPHA:36234
Pseudo-Torch Syndrome 2
Thin ribs, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Patent... OMIM:617397
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow chest, Broad ribs, Ventricular septal defe... OMIM:617022
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ... ORPHA:373
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Varicose veins OMIM:617300
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Ventricular hypertrophy, Pectus carinatum, Abnormal sternum morphology, Cysto... OMIM:613795
Clapo Syndrome
Venous malformation, Varicose veins ORPHA:168984
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Skeletal muscle atrophy OMIM:619272
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:610655
Brain-Lung-Thyroid Syndrome