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 dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... 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
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... OMIM:173800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoli... ORPHA:3268
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... ORPHA:1988
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent duct... OMIM:618845
Varicose Veins
Varicose veins OMIM:192200
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ... ORPHA:40
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Humero-Radio-Ulnar Synostosis
Radioulnar synostosis, Abnormality of the ureter, Elbow ankylosis, Abnormality of the upper urina... ORPHA:3266
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death,... OMIM:619751
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle ORPHA:163665
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... OMIM:614399
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Enlarged thorax, Multiple renal cysts, Absent o... ORPHA:66637
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Succinic Acidemia
Respiratory distress OMIM:600335
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Optic atrophy, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Cough, Li... ORPHA:86812
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bones OMIM:259440
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
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
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Ri... ORPHA:261197
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... OMIM:617405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vertebral endplates... OMIM:618395
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Neonatal death OMIM:618393
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Perching Syndrome
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly OMIM:617055
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Pterygium, Dislocated radial head, T... OMIM:265000
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2487
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Neonatal respiratory distress, Camptodactyly of fin... ORPHA:2990
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, ... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta... OMIM:611209
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... ORPHA:168549
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Kyphosis, Abnormality... ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... OMIM:271650
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... OMIM:206900
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum OMIM:255710
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... ORPHA:93311
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Tubulointerstitial fi... OMIM:263000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P... ORPHA:93351
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... OMIM:146510
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal rib morpholog... ORPHA:2519
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methyls... ORPHA:26792
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Hemi... OMIM:304050
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Delayed cranial suture closure ORPHA:1832
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Supernumerary ribs... ORPHA:50
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... OMIM:187601
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Biconvex vertebral bodies, Genu recurvatum, Flat acetabul... OMIM:184260
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Hypospadias, Respiratory distress, Scoliosis OMIM:300934
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Respira... ORPHA:474
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, ... OMIM:300219
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Holt-Oram Syndrome
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... ORPHA:392
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Lethal Congenital Contracture Syndrome 1
Neonatal death, Abnormal thorax morphology, Widening of cervical spinal canal OMIM:253310
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Nephrocalcinosis, Thoracic ... OMIM:615633
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses ORPHA:1423
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Craniosynostosis, Short neck, Pectu... OMIM:213980
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... ORPHA:2064
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus, Platyspondyly, Narrow chest, Sc... ORPHA:166272
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Camptodactyly of finger, Elbow dislocation, Kyph... ORPHA:628
Kbg Syndrome
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis OMIM:148050
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... OMIM:184252
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Mucopolysaccharidosis, Type Iva
Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of th... OMIM:253000
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebrae, Abnormal for... ORPHA:2759
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospadias ORPHA:276422
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Optic atrophy, Death in adolescence, Facial diplegia OMIM:122860
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... OMIM:608728
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosu... ORPHA:1120
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Missing ribs,... ORPHA:1834
Autosomal Recessive Robinow Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, A... ORPHA:1507
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Aortic valve calcification, Kyphosis, ... OMIM:203500
Trisomy 13
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal rib morphology, Abnormali... ORPHA:3378
Caudal Regression Syndrome
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ectopic kidney,... ORPHA:3027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat... OMIM:265380
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... OMIM:184250
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Resp... OMIM:617895
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia ORPHA:93298
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Respirato... ORPHA:2484
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss... OMIM:268310
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Flat... ORPHA:263508
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Interve... ORPHA:3168
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... OMIM:151210
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ... OMIM:616733
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Femoral-Facial Syndrome
Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Missing r... OMIM:134780
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2876
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Sp... ORPHA:582
Prune Belly Syndrome
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Aplasia of t... OMIM:100100
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... ORPHA:2347
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... OMIM:615042
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator... ORPHA:1046
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Recurrent... OMIM:613848
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Optic atroph... ORPHA:280
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Proteinuria, Acetabular dysplasia, Pectus excavatum, Patent ductus arterios... OMIM:617303
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Wormian bones, Thoracic hypoplasia OMIM:166210
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... OMIM:228520
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Scoliosis, Wormian bones, Bicon... OMIM:259420
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosis, Cough, ... ORPHA:2414
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... OMIM:260400
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o... ORPHA:66630
Robinow Syndrome
Fused thoracic vertebrae, Multicystic kidney dysplasia, Ventricular septal defect, Kyphoscoliosis... ORPHA:97360
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis, Umbilical hernia ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Flared, irregular rib ends, Pear-sh... OMIM:602111
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Biconcave vertebral bodies, Wormian bones, Umbilical hernia, Vertebral compression fra... OMIM:617952
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven... ORPHA:98915
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Abnormality of the ureter, Genu valgum ORPHA:1035
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Pectus excavatum, Flexio... OMIM:271225
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel anomaly, Abnorm... ORPHA:2097
Cole-Carpenter Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Wormian bones ORPHA:2050
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... OMIM:612158
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Thin ribs OMIM:300863
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs OMIM:200610
Ellis Van Creveld Syndrome
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... ORPHA:289
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... ORPHA:174
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abno... ORPHA:1666
3M Syndrome
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... ORPHA:2616
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... OMIM:200600
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187600
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Narrow chest, Umbilical hernia ORPHA:93299
Cat-Eye Syndrome
Abnormal rib morphology, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid p... OMIM:300232
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Wormian bones, Vertebral compre... OMIM:616229
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology ORPHA:2772
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... OMIM:616294
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Pectus excavatum, Hip dis... OMIM:156550
Baller-Gerold Syndrome
Bicoronal synostosis, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, ... OMIM:218600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Facial palsy, Pectus carinatum ORPHA:3068
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, O... OMIM:224300
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Proteus Syndrome
Venous malformation OMIM:176920
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced musc... OMIM:212140
Zttk Syndrome
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Paten... OMIM:617140
Alagille Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ... ORPHA:52
Pseudoachondroplasia
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs, Hypoplasia o... OMIM:177170
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... OMIM:220110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxia... ORPHA:79345
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atrial septal def... ORPHA:505248
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Wrist flexion contract... OMIM:305620
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Ventricular septal defect, Hypospadias, Beaded ribs, Cardiomegaly, Flexio... OMIM:616897
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Platyspondyly, Thin ribs ORPHA:163966
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs OMIM:312150
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... ORPHA:90308
1P36 Deletion Syndrome
11 pairs of ribs, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of finger, ... ORPHA:1606
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ... OMIM:230500
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, Increased variability in mus... OMIM:604377
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... OMIM:223800
Hypophosphatasia
Craniosynostosis, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Emphysema ORPHA:436
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... OMIM:157800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Urinary incontinence, Centrally nucleated s... ORPHA:169189
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... OMIM:183900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc... ORPHA:93352
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insuffi... OMIM:601612
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Wide cranial sutures, Unilateral renal agenesis, Patent ductus arteriosus, ... OMIM:618188
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Abnormal hemidiaphragm mor... ORPHA:2257
Campomelia, Cumming Type
Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Flexion contracture, Pectus carinatum, Scoliosis, Atrial septal defect, Hyp... OMIM:619383
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... OMIM:245650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platys... OMIM:616482
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs OMIM:253290
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Aminoaciduria, Proximal tubulopathy OMIM:612075
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid p... OMIM:253010
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu... OMIM:620369
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Craniosynostosis, Abnormal rib morphology, Abnormality of the upper u... ORPHA:2145
Vacterl Association With Hydrocephalus
Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flexion contracture, Flat glenoid f... OMIM:224690
Cenani-Lenz Syndrome
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... ORPHA:3258
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Renal insufficiency ORPHA:79312
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Short ribs, Mic... OMIM:607143
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m... ORPHA:3301
Liposarcoma
Varicose veins ORPHA:69078
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly ORPHA:85184
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Pectus carinatum, Wrist flexion contracture, Death in infancy, Ab... ORPHA:800
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Methylmalonic aciduria, Bell-shaped thorax, Atrial septal de... OMIM:614857
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... OMIM:115197
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosus, Hypercalciuria, Renal... OMIM:615398
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Patent ductus arteriosus, Knee flexion contractu... OMIM:608799
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Kyphosis, Abnormality of the ureter, Flexion contra... ORPHA:3409
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abn... ORPHA:2461
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short thorax, Narrow chest, Flat acetabular roof OMIM:617102
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Abnormal thorax morphology, Flexion contractu... ORPHA:171430
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Abnor... ORPHA:314655
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca... ORPHA:2911
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Pectus exc... OMIM:610733
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Patent ductus arteriosus, Horseshoe kidney, Aplasia of the epiglottis, Shor... OMIM:617088
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hype... ORPHA:254913
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... ORPHA:261344
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Patent ductus arteriosus, Cardi... OMIM:217980
Craniometadiaphyseal Dysplasia
Cubitus valgus, Wide anterior fontanel, Genu valgum, Scoliosis, Wormian bones, Broad ribs, Genu v... OMIM:269300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... ORPHA:93473
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Anisospondyly, Neonatal death, Pterygium, Thoracic hypoplasia OMIM:224410
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Hip disloc... OMIM:194190
Greenberg Dysplasia
Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b... OMIM:215140
Atelosteogenesis, Type I
11 pairs of ribs, Encephalocele, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc... OMIM:108720
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Renal agenesis, Congenital diaphragmatic hernia, Missing ribs, Kyphoscolios... OMIM:200980
Aspergillosis
Sinusitis, Abnormality of the kidney, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, ... ORPHA:1163
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hern... ORPHA:1517
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal dysplasia, Kyphoscoliosis, Sagit... ORPHA:500150
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly, Scoliosis, Wormi... OMIM:610915
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydroneph... OMIM:618265
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, ... ORPHA:536467
Renpenning Syndrome
Skeletal muscle atrophy, Hypospadias, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly ORPHA:3242
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Protrusio acetabuli, Cra... ORPHA:284984
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Patent ductus arterio... OMIM:608149
Sclerosteosis 1
Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Broad ribs, Sclero... OMIM:269500
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, V... OMIM:607872
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... OMIM:306955
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Chitayat Syndrome
Pectus excavatum, Respiratory distress, Tracheomalacia OMIM:617180
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Congenital Myasthenic Syndrome
Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi... ORPHA:98914
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Genu va... OMIM:250420
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Achondroplasia
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Short rib... OMIM:100800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Secundum atrial septal defect, Patent ductus arteriosus, Res... OMIM:617397
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Lumbar hemivertebrae, Short neck, Missing ribs OMIM:619859
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Hemivertebrae, Mitral val... OMIM:104350
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... ORPHA:887
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Respiratory distress ORPHA:289916
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vertebral segment... ORPHA:96061
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hemivertebrae, Vertebral ... OMIM:109400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Respiratory insufficiency, Thin ribs, Micropenis, Penile hypospadias, Peno... ORPHA:456328
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs OMIM:612852
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ... ORPHA:1926
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Pectus c... OMIM:114290
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Abnor... ORPHA:367
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Wide cranial sutures, Death in infancy, Protrusio acetabuli, Pectus excav... OMIM:610682
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... OMIM:618019
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Bicuspid aortic valve, Hypospadias, Pectus excavatum, Kyp... ORPHA:96169
Erythrocytosis, Familial, 2
Varicose veins, Stroke, Cerebral hemorrhage OMIM:263400
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... OMIM:231680
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... ORPHA:175
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Hypopla... OMIM:620076
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tub... OMIM:251000
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narro... OMIM:225500
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec... OMIM:117650
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs ORPHA:73230
Pallister-Hall Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... ORPHA:672
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Asth... ORPHA:209905
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, M... OMIM:618733
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def... ORPHA:79330
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteri... ORPHA:79329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp... ORPHA:26793
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Double outlet left ventricle, Ventricular septal defe... ORPHA:2255
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the patella, Abnormality of the ureter, Abnormal carpal morphology, Abnorma... ORPHA:1225
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,... OMIM:608836
Trisomy 20P
Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Kyphosis, Abnormality of the ure... ORPHA:261318
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Tarsal synostosis, Elbow d... ORPHA:90652
Occipital Horn Syndrome
Orthostatic hypotension, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, ... OMIM:304150
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, Respiratory failure, Promin... ORPHA:254528
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Sagittal craniosynostosis, Lateral displacement of patell... OMIM:201000
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi... OMIM:236500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Scoliosis ORPHA:544503
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Abnormal rib morphology, Na... ORPHA:83
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Enlargement of the costochondra... OMIM:619636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, ... ORPHA:254534
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... OMIM:615368
Codas Syndrome
Congenital hip dislocation, Hydroureter, Ventricular septal defect, Abnormal form of the vertebra... ORPHA:1458
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia... ORPHA:568
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... ORPHA:79404
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia ORPHA:1770
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Stt3B-Cdg
Respiratory distress ORPHA:370924
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Cardiomegaly, Neonatal death, Arthrogryposis multiplex congenita, Th... OMIM:608013
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Abnor... ORPHA:819
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Farber Disease
Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, Flexion contracture, Abno... ORPHA:333
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Flat acetabular roof, Platyspondyly, ... OMIM:211350
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Bifid sacrum, Vertebra... ORPHA:1756
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Wide anterior fontane... OMIM:182212
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Patent ductus arteriosus, Hip dislocation, Hydronephrosis, Scoliosis, Atria... OMIM:300968
Aredyld Syndrome
Abnormality of the ureter, Scoliosis ORPHA:1133
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Abnormality of the kidney, Neonatal asphyxia, Pa... ORPHA:141127
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... OMIM:615512
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Co... ORPHA:2437
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Fetal pyelectasis, Respiratory distress ORPHA:50810
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Prominent metopic ridge, Camptodactyly ... ORPHA:2215
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse... OMIM:612863
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Hypospadias, Kyphoscoliosis, Abnormal thorax ... ORPHA:798
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... ORPHA:1329
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis OMIM:202650
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Hypoplastic scapulae, Wormian bones, N... OMIM:119600
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... ORPHA:1900
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Protrusio acetabuli, Craniosynostosis, Patent duc... OMIM:613795
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... OMIM:192350
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicl... ORPHA:2554
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Bell-... ORPHA:1393
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone... OMIM:271665
Melnick-Needles Syndrome
Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis... OMIM:309350
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Apnea, Abnormal renal collecting syst... ORPHA:17
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Renal insufficiency, Recurrent urinary tract infections, Glomerul... ORPHA:36234
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis ORPHA:1300
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:2299
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Respiratory distress ORPHA:990
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Pyknoachondrogenesis