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Gene: Tgfbr1 MGI:98728

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transforming growth factor, beta receptor I

Synonyms:

Alk-5, ALK5, TbetaRI, TbetaR-I

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tgfbr1 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.

Human diseases associated with Tgfbr1 (4 diseases)
Human diseases predicted to be associated with Tgfbr1 (969 diseases)

The table below shows human diseases associated to Tgfbr1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Loeys-Dietz Syndrome	Abnormal bleeding, Joint dislocation, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Camp...	ORPHA:60030
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,...	OMIM:609192
Multiple Self-Healing Squamous Epithelioma, Susceptibility To		OMIM:132800

The table below shows human diseases predicted to be associated to Tgfbr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Fibromuscular Dysplasia, Arterial	Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic...	OMIM:135580
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct...	OMIM:619825
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Bruisi...	OMIM:620080
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperflexibility, Transp...	ORPHA:261243
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Hyperextensibility of the finger joints, Genu recurvatum, Situs inversus to...	OMIM:609008
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ...	OMIM:619910
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform asc...	OMIM:617168
Mass Syndrome	Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm	OMIM:604308
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Short neck, Brachycephaly, Knee flexion contracture, Atrial se...	OMIM:121050
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Igg4-Related Aortitis	Low back pain, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubul...	ORPHA:449400
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection...	OMIM:616166
Loeys-Dietz Syndrome 4	Joint laxity, Bicuspid aortic valve, Protrusio acetabuli, Arterial tortuosity, Dolichocephaly, Pn...	OMIM:614816
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Pu...	ORPHA:199241
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Scoliosis, C...	OMIM:301039
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H...	ORPHA:2038
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Prominent superficial veins, Carotid artery stenosis, Short neck,...	OMIM:618000
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Central hypoventilation, Mit...	ORPHA:171881
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu...	ORPHA:98892
Teebi Hypertelorism Syndrome 1	Frontal bossing, Ventricular septal defect, Sagittal craniosynostosis, Aortic root aneurysm, Pulm...	OMIM:145420
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,...	ORPHA:1900
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e...	ORPHA:1054
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Pulmonary artery stenosis, Dilated cardiomyopathy, C...	ORPHA:3342
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Repeat...	ORPHA:536467
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch...	ORPHA:860
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Loeys-Dietz Syndrome	Abnormal bleeding, Joint dislocation, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Camp...	ORPHA:60030
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Joint dislocation, Tricuspid regurgitation, Left ventricular hypertrophy, T...	ORPHA:230851
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp...	ORPHA:99094
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity...	ORPHA:284984
Craniosynostosis 1	Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Frontal bossing, Kyphoscoliosis, Hip dislocation, Advanced ossification...	OMIM:615349
Boudin-Mortier Syndrome	Joint laxity, Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Meester-Loeys Syndrome	Joint dislocation, Frontal bossing, Joint hypermobility, Dolichocephaly, Cervical spine instabili...	OMIM:300989
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,...	OMIM:609192
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Ventricular septal defect, Repeated pneumothoraces, Kyphosis, Coarctation of aor...	OMIM:617602
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio...	ORPHA:404443
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se...	OMIM:613795
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Craniosynostosis, Kyphosis, Scaphocephaly, Mitral valve ...	OMIM:616914
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia...	OMIM:618300
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Recurrent pharyngitis, Abn...	ORPHA:397
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Patent ductus arteriosus, Dolichoce...	ORPHA:1516
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis...	OMIM:619656
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Short neck, Cardiomegaly, Multiple joint dislocation, Brachyce...	OMIM:245600
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Pulmonary...	OMIM:208050
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Carotid...	ORPHA:536532
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ...	OMIM:130050
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Loeys-Dietz Syndrome 5	Ventricular septal defect, Kyphoscoliosis, Osteoarthritis, Brachycephaly, Cervical spine instabil...	OMIM:615582
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Yuan-Harel-Lupski Syndrome	Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Talipes val...	OMIM:616652
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Scoliosis	ORPHA:449291
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Kleeblattschaedel	Cloverleaf skull, Elbow ankylosis, Craniosynostosis	OMIM:148800
Summitt Syndrome	Oxycephaly, Craniosynostosis	OMIM:272350
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Joint hypermobility, Polyhyd...	OMIM:617506
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:1354
Aurocephalosyndactyly	Craniosynostosis	OMIM:109050
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis	OMIM:123155
Craniosynostosis, Philadelphia Type	Craniosynostosis	ORPHA:1527
X Small Rings	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Short neck, Osteoporosis, Reduced...	ORPHA:96201
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn...	OMIM:615314
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Bicuspid aortic valve, Ventricular sept...	OMIM:610443
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Frontal bossing, Craniosynostosis, Moyamoya phenomenon	ORPHA:401986
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Chondrodysplasia, Blomstrand Type	Fetal ascites, Polyhydramnios, Generalized osteosclerosis, Hydrops fetalis, Advanced tarsal ossif...	OMIM:215045
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Immunodeficiency 23	Recurrent respiratory infections, Allergic rhinitis, Asthma, Bronchiectasis, Aortic root aneurysm...	OMIM:615816
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Hypoplastic aortic arch, Abn...	ORPHA:2876
Temtamy Syndrome	Joint hyperflexibility, Genu varum, Dolichocephaly, Aortic aneurysm	ORPHA:1777
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Recurrent respiratory infections, Thoracolumbar scoliosis, Craniosynostosis, Scaphoc...	OMIM:618523
Craniosynostosis 7	Craniosynostosis	OMIM:617439
Marfan Syndrome	Osteopenia, Limited elbow movement, Emphysema, Osteoporosis, Dilatation of an abdominal artery, A...	ORPHA:558
Craniosynostosis 5, Susceptibility To	Craniosynostosis	OMIM:615529
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit...	OMIM:617577
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Joint hypermobility, Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruisin...	OMIM:618343
Lowry-Maclean Syndrome	Craniosynostosis, Abnormal heart morphology	OMIM:600252
Symphalangism, Distal	Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis	OMIM:185700
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,...	OMIM:616602
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral arteries, Pol...	OMIM:620025
Carpenter Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Kyphoscoliosis, Patent ductus arteriosus, Oxyce...	ORPHA:65759
Opitz Gbbb Syndrome	Prominent metopic ridge, Ventricular septal defect, Tracheomalacia, Craniosynostosis, Patent fora...	ORPHA:2745
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Orbital craniosynostosis, Dolichocephaly	ORPHA:1538
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolapse, Increased ...	OMIM:166200
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, Sagittal craniosynostosis	OMIM:185900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Knee fle...	OMIM:603387
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl...	ORPHA:284979
Fragile X Syndrome	Joint laxity, Frontal bossing, Sinusitis, Mitral valve prolapse, Ascending tubular aorta aneurysm	ORPHA:908
Craniosynostosis, Adelaide Type	Craniosynostosis, Carpal bone malsegmentation	OMIM:600593
Marfan Syndrome	Bicuspid aortic valve, Genu recurvatum, Flexion contracture, Emphysema, Tricuspid regurgitation, ...	OMIM:154700
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi...	OMIM:203500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi...	OMIM:601612
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Craniosynostosis	ORPHA:2866
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Mitral ...	ORPHA:115
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,...	OMIM:230650
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Sagittal craniosynostosis, Premature posterior fontanelle closure, Sma...	OMIM:314320
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Brachycephaly, Abnormal form ...	ORPHA:666
Au-Kline Syndrome	Sacral dimple, Prominent metopic ridge, Thoracolumbar scoliosis, Sagittal craniosynostosis, Crani...	OMIM:616580
Enlarged Parietal Foramina	Parietal foramina, Craniosynostosis, Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh...	ORPHA:99827
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil...	ORPHA:90068
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Joint stiffness, Tetralogy of Fallot, Respiratory insufficiency, Verte...	ORPHA:1166
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus, Coronal craniosynostosis	OMIM:241310
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi...	ORPHA:60041
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form ...	ORPHA:40
Multiple Osteochondromas	Neuropathic spinal arthropathy, Abnormality of the knee, Pseudoaneurysm, Limitation of joint mobi...	ORPHA:321
Hunter-Mcalpine Craniosynostosis Syndrome	Craniosynostosis	OMIM:601379
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly...	ORPHA:51608
Distal Triplication 15Q	Craniosynostosis, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contractur...	ORPHA:314588
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Metopic suture patent to nasal root, Premature posterior fontanelle cl...	ORPHA:3369
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Respiratory insufficiency, Craniosynostosis	OMIM:201550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly	ORPHA:88643
Tetrasomy 15Q26	Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal d...	OMIM:614846
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Trigonocephaly, Craniosynostosis, Scaphocephaly, Abnormal heart morphology, Abno...	OMIM:175700
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi...	OMIM:614437
Hypophosphatasia, Childhood	Frontal bossing, Craniosynostosis, Dolichocephaly	OMIM:241510
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Joint hypermobility, Scoliosis	OMIM:618906
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynos...	OMIM:147060
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Genu varum	ORPHA:1110
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto...	OMIM:618736
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa...	ORPHA:980
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left ...	ORPHA:2001
Rin2 Syndrome	Upper eyelid edema, Increased susceptibility to fractures, Scoliosis, Bruising susceptibility, Jo...	ORPHA:217335
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Autosomal Dominant Polycystic Kidney Disease	Mitral valve prolapse, Hypertension, Dilatation of the cerebral artery, Aortic root aneurysm, Abn...	ORPHA:730
Sandhoff Disease	Cherry red spot of the macula, Recurrent respiratory infections, Kyphosis, Congestive heart failure	ORPHA:796
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Craniosynostosis, Patent ductus arteriosus, Large fontanelles, Brachycephaly, Radio...	ORPHA:171839
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis	OMIM:218650
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Scoliosis...	ORPHA:1727
Hypophosphatasia, Infantile	Recurrent respiratory infections, Apnea, Polyhydramnios, Craniosynostosis, Vertebral clefting, In...	OMIM:241500
Parastremmatic Dwarfism	Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Hip dislocation, Co...	OMIM:619451
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Congestive heart failure, Paten...	OMIM:608328
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hyperextensibility of the finger joints, Patent ductus arteriosus, Cardiomy...	OMIM:135500
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi...	ORPHA:2314
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ...	ORPHA:185
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion	OMIM:613885
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Flexion contracture, Ankle clonus, Aortic root aneurysm, Atrial septal defect, Talipes valgus	OMIM:618891
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture...	OMIM:300718
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Classical Ehlers-Danlos Syndrome	Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ecchymosis, Dislocate...	ORPHA:287
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, J...	ORPHA:392
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Osteoporosis, Coarctation of aorta, Small anterior fontanelle, Wide...	ORPHA:2409
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ...	OMIM:239850
Cole-Carpenter Syndrome 2	Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Kyphosis, P...	OMIM:616294
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Ventricular septal defect, Hip subluxation, Congestive heart failure, Patent ductu...	ORPHA:444077
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part...	OMIM:619657
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Carpenter Syndrome 1	Short neck, Brachycephaly, Atrial septal defect, Spina bifida occulta, Genu varum, Sagittal crani...	OMIM:201000
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Brachy...	OMIM:619472
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Joint stiffness, Short neck, Abnormal lung lobation, Abnormal aortic m...	ORPHA:2516
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Calv...	ORPHA:1923
Trigonocephaly 1	Metopic synostosis, Lumbar hemivertebrae, Trigonocephaly, Craniosynostosis	OMIM:190440
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Patent ductus arteriosus, Increased nuchal translucency, Prominent occiput, Aortic ro...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iin	Osteopenia, Craniosynostosis, Joint hypermobility	OMIM:616721
Summitt Syndrome	Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly	ORPHA:3210
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha...	OMIM:604757
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Lateral Meningocele Syndrome	Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Patent ...	OMIM:130720
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Trigonocephaly, Polyhydramnios, Craniosynostosis, Patent ductus...	ORPHA:1790
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Congenital hip dislocation, Wormian bones, Elbow contracture, Kyphoscoliosis, Sh...	OMIM:304120
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Recurrent b...	OMIM:616069
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal...	OMIM:620070
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:2326
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide...	OMIM:616920
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Frontal bossing, Ventricular septal defect, Craniosynostosis, Dolichocephal...	OMIM:614114
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic ro...	ORPHA:90324
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent respiratory infections, Ventricular septal defect, Joint stiffness, ...	OMIM:620210
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Delayed closure of th...	OMIM:619797
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Craniosynostosis, Dolichocephaly, Wid...	OMIM:182212
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Brachycephaly, Craniosynostosis	OMIM:614416
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Scoliosis, Mi...	OMIM:618577
Fg Syndrome Type 1	Limited elbow extension and supination, Sacral dimple, Progressive flexion contractures, Craniosy...	ORPHA:93932
Temtamy Syndrome	Aortic regurgitation, Frontal bossing, Hip dislocation, Aortic aneurysm	OMIM:218340
Transaldolase Deficiency	Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Coarctation of ao...	ORPHA:101028
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
20Q13.33 Microdeletion Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplast...	ORPHA:261311
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi...	OMIM:178110
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral ...	OMIM:112240
Alg3-Cdg	Osteopenia, Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia, Arth...	ORPHA:79321
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, At...	ORPHA:371428
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Polyhydramnios, Craniosynostosis, Abnormal left ventricular function, ...	OMIM:301056
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormal heart mor...	ORPHA:356961
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
You-Hoover-Fong Syndrome	Coarctation of aorta, Kyphoscoliosis, Double aortic arch, Vascular ring	OMIM:616954
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Craniosyno...	ORPHA:453499
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the lungs, Oligohydramnios	ORPHA:2145
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor...	OMIM:277950
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Supravalvular aortic stenosis, Ascending tubular ...	OMIM:219100
Chondrodysplasia With Joint Dislocations, Gpapp Type	Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat...	OMIM:614078
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Craniotelencephalic Dysplasia	Frontal bossing, Craniosynostosis	ORPHA:1528
Epidermal Nevus Syndrome	Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Aortic aneurysm	ORPHA:35125
Diabetic Embryopathy	Frontal bossing, Ventricular septal defect, Abnormal sacrum morphology, Tetralogy of Fallot, Vert...	ORPHA:1926
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Ventricular septal defect, Craniosynostosis, Patent ductus arterio...	ORPHA:457193
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Frontal bossing, Ventricular septal defect, Craniosynostosis, Heart murmur, Abnormal vena cava mo...	ORPHA:166035
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis	OMIM:601370
Frontoocular Syndrome	Atrial septal defect, Coronal craniosynostosis, Trigonocephaly, Pulmonic stenosis	OMIM:605321
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Patent ductus arteriosus, Osteoporosis, Brachycephaly, Ankle clonus, Scoliosis, Lambd...	OMIM:615398
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Sagittal...	ORPHA:2872
Craniofrontonasal Dysplasia	Frontal bossing, Camptodactyly of finger, Craniosynostosis, Brachycephaly, Plagiocephaly, Joint h...	ORPHA:1520
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona...	OMIM:300845
Crouzon Syndrome	Frontal bossing, Turricephaly, Abnormal sacrum morphology, Brachycephaly, Respiratory insufficien...	ORPHA:207
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Apert Syndrome	Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C...	OMIM:101200
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites	ORPHA:2414
Hypophosphatasia	Recurrent fractures, Craniosynostosis, Large fontanelles, Respiratory insufficiency, Emphysema	ORPHA:436
Cranioectodermal Dysplasia	Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic...	ORPHA:1515
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect...	OMIM:619343
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Arrhythmia, Camptodactyly	OMIM:618453
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract...	ORPHA:365
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint mor...	ORPHA:2655
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hy...	ORPHA:457395
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi...	ORPHA:881
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Increased bone mineral density, Flat occiput, Hyperlordosis, Facial hyperostosis...	ORPHA:2780
Jackson-Weiss Syndrome	Coronal craniosynostosis, Calcaneonavicular fusion, Midface retrusion, Craniosynostosis	OMIM:123150
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ...	ORPHA:477817
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Grange Syndrome	Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, I...	OMIM:602531
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, E...	ORPHA:363705
Prognathism, Mandibular	Craniosynostosis	OMIM:176700
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi...	OMIM:306955
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Large fontanelles, Brach...	OMIM:603116
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis	ORPHA:380
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal de...	ORPHA:2962
Macs Syndrome	Joint laxity, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Palpebral edema, Osteopo...	OMIM:613075
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Abnormal lung lobation, Brachyceph...	OMIM:265380
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Short neck, Knee flexion con...	ORPHA:284417
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Secundum atrial ...	OMIM:619951
Larsen Syndrome	Joint laxity, Vertebral fusion, Frontal bossing, Ventricular septal defect, Cervical kyphosis, Tr...	OMIM:150250
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Left unicoronal synostosis, Atrial septal defect, Anterior plagiocephaly, Peripher...	OMIM:614749
Noonan Syndrome 3	Frontal bossing, Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Dolichocep...	OMIM:609942
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph...	OMIM:235510
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Polyhydram...	OMIM:618291
Chromosome 10Q26 Deletion Syndrome	Frontal bossing, Lumbar hyperlordosis, Congenital hip dislocation, Craniosynostosis, Short neck, ...	OMIM:609625
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Vertebral segmentation defect, Scoliosis, Abnormal heart morphology	ORPHA:531151
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Polyhydramnios, Kyphosis, Patent ductus arteriosus, Increased ...	ORPHA:93274
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Tri...	OMIM:618265
Flynn-Aird Syndrome	Joint stiffness, Kyphosis, Bone cyst, Scoliosis, Atherosclerosis	ORPHA:2047
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Sagittal craniosynostosis, Patellar subluxati...	OMIM:615879
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Recurrent respiratory infections, Congenital bilateral hip dislocation	ORPHA:85288
Hartsfield Syndrome	Respiratory insufficiency, Craniosynostosis	ORPHA:2117
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Craniotelencephalic Dysplasia	Craniosynostosis	OMIM:218670
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Kyphoscoliosis, Secundum atrial septal defec...	ORPHA:1600
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Short neck, Kyphosis, Brachyce...	ORPHA:254346
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b...	OMIM:601853
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Lymphedema, Generalized joint laxity,...	ORPHA:536471
Macrocephaly-Developmental Delay Syndrome	Frontal bossing, Palpebral edema, Craniosynostosis, Scaphocephaly, Recurrent pneumonia	ORPHA:397612
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,...	ORPHA:1120
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Osteoglosphonic Dysplasia	Craniosynostosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal bone ossification	ORPHA:2645
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Internal hemorrhage, Abnormal blee...	ORPHA:286
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Joint stiffness, Kyphosis, Aplasia/Hypoplasia of the lungs, Sco...	ORPHA:1548
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture	OMIM:618658
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:607872
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona...	OMIM:600775
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Limitation of joint mo...	ORPHA:2990
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Recurrent joint dislocation, Abnormal heart valve morphology, Cervical kyphosi...	ORPHA:2953
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Wormian bones, Recurrent fractures, Protrusio acetabuli, Severe generalized oste...	OMIM:259420
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema	OMIM:608776
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Craniosynostosis, Abnormal heart morphology, Platybasia, Abnormal aortic valve morp...	ORPHA:261197
3Mc Syndrome 1	Conjunctival telangiectasia, Sacral dimple, Ventricular septal defect, Wide anterior fontanel, Pa...	OMIM:257920
Muenke Syndrome	Capitate-hamate fusion, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Midface retrusion	OMIM:602849
Noonan Syndrome 9	Ventricular septal defect, Short neck, Coarctation of aorta, Prolonged prothrombin time, Pulmonic...	OMIM:616559
Marshall-Smith Syndrome	Craniosynostosis, Increased susceptibility to fractures, Reduced bone mineral density, Joint hype...	ORPHA:561
Pycnodysostosis	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit...	ORPHA:763
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Thoracic kyphosis, Aspiration pneu...	OMIM:602535
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Gm1-Gangliosidosis, Type I	Frontal bossing, Abnormal heart valve morphology, Short neck, Joint stiffness, Kyphosis, Congesti...	OMIM:230500
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Peripher...	OMIM:614099
Chromosome 18Q Deletion Syndrome	Joint laxity, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septa...	OMIM:601808
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo...	ORPHA:2771
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly...	OMIM:616723
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement...	OMIM:115197
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, ...	ORPHA:536545
Aymé-Gripp Syndrome	Pericarditis, Prominent metopic ridge, Craniosynostosis, Pericardial effusion, Patent ductus arte...	ORPHA:1272
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries, Scoliosis	ORPHA:293181
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Scoliosis	OMIM:613174
Bannayan-Riley-Ruvalcaba Syndrome	Frontal bossing, Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Joint hype...	ORPHA:109
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Frontal bossing, Ventricular septal defect...	OMIM:309520
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Absence of the sacrum, Atrial septal defect, Right atrial isomerism, ...	OMIM:270100
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Brachycephaly, Coronal craniosynostosis	ORPHA:2095
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Mucolipidosis Type Ii	Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheeks, Prominent metopic r...	ORPHA:576
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Wide anterior fontanel, Flexion contracture, Humeroradial synostosis, Brachyceph...	OMIM:207410
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Craniosynostosis, Joint hypermobility, Oligohydramnios	OMIM:619056
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter...	OMIM:619351
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Flexion contracture, Craniosynostosis	OMIM:619076
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis	OMIM:617087
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Craniosynostosis With Fibular Aplasia	Craniosynostosis	OMIM:218550
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c...	OMIM:123500
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Sagittal craniosynostosis, Trig...	OMIM:618027
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Distal Deletion 10Q	Frontal bossing, Prominent metopic ridge, Lumbar hyperlordosis, Craniosynostosis, Patent ductus a...	ORPHA:96148
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:352665
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Coarctation of aorta	ORPHA:280195
Fryns Syndrome	Polyhydramnios, Short neck, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal...	ORPHA:2059
Larsen Syndrome	Large joint dislocations, Craniosynostosis, Accessory carpal bones, Respiratory insufficiency, Jo...	ORPHA:503
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Joint laxity, Genu recurvatum, Delayed cranial suture closure, ...	ORPHA:90348
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio...	ORPHA:137914
Transaldolase Deficiency	Ventricular septal defect, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Asthma, ...	OMIM:606003
Myofibrillar Myopathy 11	Reduced forced vital capacity, Coarctation of aorta	OMIM:619178
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Scoliosis, Hype...	OMIM:618234
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Coarctation of aorta, Abnormal aortic morpholog...	ORPHA:2396
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hip dislocation, Scoliosis	OMIM:300434
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest...	ORPHA:228116
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Sco...	ORPHA:178148
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Recurrent fractures...	ORPHA:667
8P23.1 Microdeletion Syndrome	Short neck, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abn...	ORPHA:251071
Autosomal Recessive Omodysplasia	Frontal bossing, Craniosynostosis, Elbow dislocation, Increased nuchal translucency, Pterygium	ORPHA:93329
Thanatophoric Dysplasia Type 1	Frontal bossing, Cloverleaf skull, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint mor...	ORPHA:1860
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Craniosynostosis	OMIM:614732
7Q11.23 Microduplication Syndrome	Sacral dimple, Ventricular septal defect, Tracheomalacia, Short neck, Craniosynostosis, Patent du...	ORPHA:96121
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Craniosynostosis, Irregular carpal bones, Scoliosis, Shallow acetabular fos...	OMIM:252600
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Trigonocephaly, Scaphocephaly, Ventricular septal defect, Sagittal craniosynostosis	OMIM:616901
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art...	OMIM:601186
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact...	ORPHA:83
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Hypoplastic aortic arch, Plagiocephaly, Scoliosis, Joint hypermobility	ORPHA:457284
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Dislocation of toes, Congenital hip dislocation, Left atrial enlargement...	OMIM:300280
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Frontal bossing, Osteomy...	OMIM:259700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Chronic lung disease, Acute respiratory distress syndrome, Portal hypertension, ...	OMIM:620005
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Distal Deletion 15Q	Flat occiput, Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly co...	ORPHA:1596
Hypermethioninemia Due To Adenosine Kinase Deficiency	Frontal bossing, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothrombin time,...	OMIM:614300
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Valvular pulmonary stenosis, Atrial septal...	OMIM:300707
Chromosome 15Q25 Deletion Syndrome	Flat occiput, Ventricular septal defect, Dextrocardia, Short neck, Coronary artery fistula, Abnor...	OMIM:614294
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Lymphedema, Pericard...	ORPHA:2136
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Frontal bossing, Scoliosis	ORPHA:276630
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h...	ORPHA:141127
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Flat ...	OMIM:252500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Camptodactyly, Atrial se...	ORPHA:459061
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis	OMIM:617404
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Craniosynostosis	OMIM:619873
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Brachycephaly, Coronal craniosynostosis, Calvarial skull defect, Oligohydramnios	ORPHA:228390
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis	OMIM:616756
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Ankle swelling, Increased pulmonary vascula...	ORPHA:275766
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Cloverleaf skull, Polyhydramnios, Limited e...	ORPHA:508533
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:85317
Muenke Syndrome	Tarsal synostosis, Brachycephaly, Plagiocephaly, Carpal synostosis, Coronal craniosynostosis	ORPHA:53271
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ...	ORPHA:2311
Kleefstra Syndrome 2	Plagiocephaly, Kyphosis, Midface retrusion, Scoliosis	OMIM:617768
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Thickened calvaria, Scheuermann-like vertebral changes, Cervical spinal cana...	OMIM:301900
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Short neck, Mitral valve prolapse, Ascending t...	ORPHA:444072
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Recurrent aspiration pneumonia, Tricu...	OMIM:612289
Cardiac-Urogenital Syndrome	Atrial septal defect, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular s...	OMIM:618280
Holoprosencephaly-Craniosynostosis Syndrome	Hypoplastic vertebral bodies, Plagiocephaly, Brachycephaly, Craniosynostosis	ORPHA:2163
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Trigonocephaly, Patent ductus arteriosus, Flat acetabul...	OMIM:617159
Fetal Akinesia Deformation Sequence 4	Polyhydramnios, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
3C Syndrome	Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral val...	ORPHA:7
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a...	ORPHA:75249
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta	OMIM:217085
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction	OMIM:615812
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Sacral dimple, Craniosynostosis, Patent ductus arteriosus, Coarctation of aorta, Mitr...	ORPHA:363611
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Kyphoscoliosis, Congestive heart failure, Pneumothorax, Hip dislocation,...	OMIM:617403
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Metopic synostosis,...	OMIM:620024
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm...	OMIM:192430
Shprintzen-Goldberg Syndrome	Osteopenia, Frontal bossing, Apnea, Camptodactyly of finger, Craniosynostosis, Joint stiffness, E...	ORPHA:2462
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Patent ductus arteriosus, Abnormal lung lobation, Brachycephaly, Ab...	ORPHA:369837
Cranioectodermal Dysplasia 4	Frontal bossing, Sagittal craniosynostosis, Recurrent pneumonia, Decreased nasal nitric oxide, Jo...	OMIM:614378
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Polyhydramnios, Short n...	OMIM:213980
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl...	OMIM:156530
3Q29 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Short neck, Large fontanelles, Biparietal narrowing,...	ORPHA:251038
1Q21.1 Microdeletion Syndrome	Frontal bossing, Patent ductus arteriosus, Joint hyperflexibility, Abnormal cardiac septum morpho...	ORPHA:250989
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contra...	ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Pediatric-Onset Graves Disease	Atrial fibrillation, Craniosynostosis, Congestive heart failure, Neonatal asphyxia, Hypertension,...	ORPHA:525731
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Limitation of joint mobili...	ORPHA:3098
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septa...	ORPHA:567
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Congestive heart failure, Myocarditis, Vasc...	ORPHA:2331
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi...	OMIM:619040
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pericardia...	ORPHA:464329
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Cranial asymmetry, Coarctation of aorta, Hypopho...	OMIM:163200
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites	ORPHA:36412
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Persistent left s...	OMIM:618494
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis	ORPHA:163976
Corpus Callosum Agenesis-Neuronopathy Syndrome	Turricephaly, Craniosynostosis	ORPHA:1496
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Hydrocephalus, Edema	OMIM:617822
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s...	OMIM:618775
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Joint stiffness, Kyphosis, Respiratory insufficiency, Arteriove...	ORPHA:702
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Joint laxity, Sacral dimple, Recurrent respiratory infections, Bicuspid aortic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Joint laxity, Sacral dimple, Recurrent respiratory infections, Bicuspid aortic...	ORPHA:363958
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Limited pronation/supination of forearm, Hip dislocation, Radiou...	ORPHA:293843
Noonan Syndrome 10	Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, C...	OMIM:616564
8Q22.1 Microdeletion Syndrome	Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis, Short neck	ORPHA:178303
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c...	ORPHA:93360
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Joint stiffness, Tracheobronchomalacia, Scoliosis, Atrial septal defect, Ar...	OMIM:619184
Sialidosis Type 2	Kyphosis, Dyspnea, Flexion contracture, Osteoporosis, Hydrops fetalis, Pedal edema, Ascites	ORPHA:87876
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis	OMIM:616943
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C...	ORPHA:3426
Meier-Gorlin Syndrome 7	Joint laxity, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Heart block...	OMIM:617063
X-Linked Intellectual Disability, Cilliers Type	Coronal craniosynostosis	ORPHA:163971
Mucolipidosis Iii Gamma	Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Scoliosi...	OMIM:252605
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Alport Syndrome	Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, R...	ORPHA:63
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Dolichocephaly	OMIM:618512
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Joint hyperflexibility	ORPHA:1875
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia, Craniosynostosis	ORPHA:2203
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scol...	OMIM:611890
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Parietal foramina, Kyphosis, Wide...	ORPHA:85199
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Anterior plagiocephaly, Join...	OMIM:619718
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Dyspnea, Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atheros...	ORPHA:565612
Acrocraniofacial Dysostosis	Turricephaly, Craniosynostosis, Abnormal form of the vertebral bodies, Genu valgum, Spina bifida ...	ORPHA:949
Mucopolysaccharidosis, Type Iva	Joint laxity, Abnormal heart valve morphology, Ovoid vertebral bodies, Ulnar deviation of the wri...	OMIM:253000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri...	OMIM:614857
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta...	OMIM:619487
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Frontal bossing, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sc...	ORPHA:2181
15Q Overgrowth Syndrome	Turricephaly, Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2...	ORPHA:314585
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor...	OMIM:605275
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Broad skull, Patent ductus ar...	ORPHA:163979
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Turricephaly, Cloverleaf skull, Craniosynostosis, Hypertension, Dolichoceph...	ORPHA:1555
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Brachycephaly, Abnormal form of...	ORPHA:794
Bent Bone Dysplasia Syndrome 1	Decreased calvarial ossification, Midface retrusion, Coronal craniosynostosis	OMIM:614592
Cranioectodermal Dysplasia 2	Joint laxity, Frontal bossing, Cloverleaf skull, Polyhydramnios, Short neck, Craniosynostosis, Pa...	OMIM:613610
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Joint laxity, Respiratory failure requiring assisted ventilation, Craniosynostosis, Upper airway ...	ORPHA:412069
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Trisomy 13	Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal lung lobation, Hydrops fe...	ORPHA:3378
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic arch morphology, ...	ORPHA:96334
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ...	ORPHA:261330
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger,...	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Scarf Syndrome	Joint hyperflexibility, Craniosynostosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3134
Weismann-Netter Syndrome	Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Res...	OMIM:619909
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Short neck, Oxycephaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites	OMIM:200995
Zttk Syndrome	Aortic regurgitation, Frontal bossing, Unilateral lung agenesis, Ventricular septal defect, Crani...	OMIM:617140
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Humeroradial synostosis, Pulmonary hypoplasia, Oligohydramnios	OMIM:251230
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Osteo...	ORPHA:77259
Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Large fontanelles, Interrupted aortic arch, ...	OMIM:300712
Diastrophic Dysplasia	Joint dislocation, Recurrent respiratory infections, Increased bone mineral density, Camptodactyl...	ORPHA:628
3M Syndrome	Frontal bossing, Congenital hip dislocation, Abnormal cerebral vascular morphology, Hyperlordosis...	ORPHA:2616
Sialidosis Type 1	Frontal bossing, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Cherry red spot of t...	ORPHA:812
Classic Homocystinuria	Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Kyphosis, ...	ORPHA:394
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Sacral dimple, Pulmonary cyst, Kyphosis, Wide anterior fontanel	OMIM:618272
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Muscular ventricul...	OMIM:157800
Gaucher Disease, Type Ii	Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch	OMIM:230900
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Respiratory fa...	ORPHA:79327
3Mc Syndrome 2	Limited elbow movement, Craniosynostosis, Hip dislocation, Radioulnar synostosis, Abnormality of ...	OMIM:265050
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Restrictive ventilatory defect, Scoliosis, Arthrog...	OMIM:618484
Cdkl5-Deficiency Disorder	Kyphosis, Abnormal respiratory system physiology, Scoliosis	ORPHA:505652
Achondroplasia	Frontal bossing, Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Wide anterior fontanel,...	ORPHA:15
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Wormian bones, Apnea, Abnormality of the wrist, Venous insufficiency, Elbow di...	ORPHA:285
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Metopic synostosis, Tetr...	OMIM:618748
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema	ORPHA:79126
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a...	OMIM:600001
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor...	ORPHA:1708
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati...	ORPHA:3097
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Brachycephaly, Scoliosis	OMIM:615761
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Frontal bossing, Craniosynostosis	ORPHA:1064
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Pleural effusion, Ascites, Edema	ORPHA:93552
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis	OMIM:234250
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Pfeiffer Syndrome	Cloverleaf skull, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricephaly, Elbow an...	OMIM:101600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Frontal bossing, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Atrioventricular ca...	OMIM:618929
Hamamy Syndrome	Osteopenia, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Complete atrioventricul...	OMIM:611174
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Respiratory insufficiency, Scoliosi...	ORPHA:3191
Frontonasal Dysplasia 2	Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Anterior plagiocephal...	OMIM:613451
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Myopathy, Centronuclear, 2	Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion contracture, S...	OMIM:255200
Alstrom Syndrome	Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Asthma, Recurrent pneumonia, Hyperten...	OMIM:203800
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Craniosynostosis	ORPHA:96097
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta...	OMIM:600987
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	ORPHA:2255
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Decreased calvarial ossification, Steep acetabular roof, Coronal ...	ORPHA:313855
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Gm1 Gangliosidosis	Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of fi...	ORPHA:354
Emanuel Syndrome	Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Ventricular septal d...	OMIM:609029
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure	OMIM:617253
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Flat occiput, Brachycephaly, Conotruncal defect, Coarctation of aorta, Abno...	ORPHA:96147
Aicardi-Goutières Syndrome	Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Plagio...	ORPHA:51
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
2Q37 Microdeletion Syndrome	Frontal bossing, Short neck, Joint hyperflexibility, Abnormal aortic morphology, Tracheomalacia, ...	ORPHA:1001
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, At...	OMIM:617190
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Short neck, Parietal foramina, Hip dislocation, Antecubital pterygium, Patellar...	OMIM:609945
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Prominen...	OMIM:164280
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Osteopenia, Joint laxity, Pneumonia, Craniosynostosis, Short neck, Joint st...	ORPHA:309282
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Ky...	OMIM:249420
Curry-Jones Syndrome	Craniosynostosis	ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri...	OMIM:606612
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Mitral valve pro...	ORPHA:137834
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Multiple joint contractures, Dextrocardia, Polyhydramnios, C...	ORPHA:1662
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Joint laxity, Turricephaly, Prominent metopic ridge, Bicuspid aortic valve,...	OMIM:612474
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Limitation of joint mobility, Flexion co...	ORPHA:1545
Blau Syndrome	Pericarditis, Camptodactyly of finger, Dyspnea, Limitation of joint mobility, Xerostomia, Large v...	ORPHA:90340
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Brachycephaly, Scoliosis	OMIM:615834
Dysbetalipoproteinemia	Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial...	ORPHA:412
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Kyphosis, Increased nuchal translucency	ORPHA:77300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Patent ductus arteriosus, Flexion ...	ORPHA:17
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Recurrent fractures, Craniosynostosis	ORPHA:251004
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Short neck, Patent ductus arteriosus, Abnormal lung lobation, Coarctat...	OMIM:300514
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract...	ORPHA:93314
Scarf Syndrome	Coronal craniosynostosis, Lambdoidal craniosynostosis, Abnormal form of the vertebral bodies, Sho...	OMIM:312830
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Distal...	OMIM:254090
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa...	ORPHA:26793
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ...	ORPHA:98863
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dyspnea, Dilated cardiomyopathy, Respi...	OMIM:615084
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe...	OMIM:153400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Flat acetabular roof, Respiratory insufficiency, Pulmonary hypoplasia, ...	OMIM:616300
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Flat occiput, Cloverleaf skull, Craniosynostosis, Hypertension, Limited elb...	OMIM:123790
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Abnormal verteb...	OMIM:218600
Carpenter Syndrome 2	Frontal bossing, Tricuspid regurgitation, Dextrocardia, Trigonocephaly, Short neck, Situs inversu...	OMIM:614976
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr...	ORPHA:33364
Perlman Syndrome	Ascites, Polyhydramnios, Interrupted aortic arch, Edema	OMIM:267000
Mosaic Trisomy 1	Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Polyhydr...	ORPHA:1692
Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:98853
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Alpha-Mannosidosis	Craniofacial hyperostosis, Recurrent respiratory infections, Short neck, Kyphosis, Arthritis, Sco...	ORPHA:61
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Brachycephaly, Abnormality of the wrist, Abnormal vertebral morphology, Elbo...	ORPHA:95699
1P36 Deletion Syndrome	Aortic arch aneurysm, Frontal bossing, Abnormal heart valve morphology, Camptodactyly of finger, ...	ORPHA:1606
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy	OMIM:212065
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Arthrogryposis, Distal, Type 5	Limited wrist extension, Reduced forced expiratory volume in one second, Kyphosis, Restrictive ve...	OMIM:108145
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short...	OMIM:183900
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Typical Nemaline Myopathy	Polyhydramnios, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip di...	ORPHA:171436
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Kyphosis, Brachycephaly, Dolichocephaly	OMIM:615433
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Brachycephaly, Contracture of the ...	OMIM:618223
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Frontal bossing, Ventricular septal defect, Craniosynostosis	OMIM:250410
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:98855
Pfeiffer Syndrome Type 1	Brachycephaly, Bicoronal synostosis, Midface retrusion	ORPHA:93258
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Mitral valve prolapse, Arthritis, Platysp...	OMIM:108300
Seckel Syndrome	Joint hyperflexibility, Craniosynostosis, Scoliosis	ORPHA:808
Arboleda-Tham Syndrome	Respiratory distress, Frontal bossing, Recurrent respiratory infections, Neonatal respiratory dis...	OMIM:616268
Clark-Baraitser syndrome	Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis	OMIM:300602
Poems Syndrome	Pericardial effusion, Pleural effusion, Ascites, Edema	ORPHA:2905
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density	ORPHA:2617
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th...	OMIM:177170
Mgat2-Cdg	Abnormal bleeding, Osteopenia, Respiratory distress, Ventricular septal defect, Dolichocephaly, K...	ORPHA:79329
Cole-Carpenter Syndrome	Frontal bossing, Turricephaly, Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodi...	ORPHA:2050
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Hyperlord...	OMIM:251450
X-Linked Hypophosphatemia	Frontal bossing, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita...	ORPHA:89936
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Scoliosis, Atrial septal defect, M...	OMIM:617061
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Joint laxity, Thoracic scoliosis, Congenital hip dislocation, Ventri...	ORPHA:508488
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Degcags Syndrome	Osteopenia, Sacral dimple, Tachycardia, Ventricular septal defect, Pneumonia, Polyhydramnios, Tra...	OMIM:619488
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Hyperlordosis, Sho...	ORPHA:2789
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Dist...	OMIM:609128
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Osteoporosis, Hip...	OMIM:616507
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Tangier Disease	Accelerated atherosclerosis, Coronary artery stenosis, Left ventricular hypertrophy, Carotid arte...	ORPHA:31150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Genu recurvatum, Recurrent fractures, Phalangeal dis...	OMIM:130070
Dubowitz Syndrome	Sacral dimple, Craniosynostosis, Wide anterior fontanel, Asthma, Respiratory insufficiency, Joint...	ORPHA:235
Acrocardiofacial Syndrome	Joint dislocation, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctati...	ORPHA:2008
Rubinstein-Taybi Syndrome 1	Respiratory distress, Polyhydramnios, Flexion contracture, Aortic isthmus hypoplasia, Atrial sept...	OMIM:180849
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent...	OMIM:618164
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Hyperextensibility at elbow, Lumbar hyperlordosis, Transient ischemic attack, Un...	ORPHA:500150
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Short neck, Patent ductus arteriosus, Coarctation of aorta...	OMIM:600268
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Kleefstra Syndrome	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Dyspnea, Pulm...	ORPHA:261494
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular sep...	OMIM:616894
Congenital Myopathy 22A, Classic	Frontal bossing, Thoracic scoliosis, Tricuspid regurgitation, Hip contracture, Polyhydramnios, Sp...	OMIM:620351
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis, Short neck, K...	ORPHA:1798
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Apnea, Fetal ascites, Ascending aorta hypoplasia, Multip...	OMIM:619503
15Q14 Microdeletion Syndrome	Ventricular septal defect, Kyphosis, Biparietal narrowing, Scoliosis, Atrial septal defect	ORPHA:261190
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Tricuspid regurgitation, Polyhydramnios, Kyphoscoliosis, Patent ductus arteriosus, At...	OMIM:614557
Proteus Syndrome	Sudden cardiac death, Lymphedema, Pulmonary embolism, Kyphosis, Joint stiffness, Craniosynostosis...	ORPHA:744
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbit...	ORPHA:904
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy	ORPHA:300751
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
4Q21 Microdeletion Syndrome	Frontal bossing, Short neck, Kyphosis, Large fontanelles, Scoliosis	ORPHA:238750
Osteoglophonic Dysplasia	Osteopenia, Frontal bossing, Respiratory distress, Cloverleaf skull, Camptodactyly of finger, Cra...	OMIM:166250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Mitra...	OMIM:617260
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Craniofrontonasal Syndrome	Joint laxity, Frontal bossing, Short neck, Brachycephaly, Scoliosis, Coronal craniosynostosis, Ax...	OMIM:304110
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Portal hypertension, Wide anterio...	OMIM:610199
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar h...	ORPHA:3132
Toriello-Carey Syndrome	Neonatal respiratory distress, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Coar...	ORPHA:3338
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Polyhydramnios, Short neck, Kyphosis, Achilles tendon contracture, Flexion contr...	OMIM:301041
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect,...	ORPHA:353281
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card...	OMIM:614921
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l...	OMIM:139210
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P...	ORPHA:781
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
Alg9-Cdg	Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp...	ORPHA:79328
Van Den Ende-Gupta Syndrome	Sacral dimple, Craniosynostosis, Scaphocephaly, Elbow flexion contracture, Knee flexion contractu...	OMIM:600920
Charge Syndrome	Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Hemivertebrae, Respiratory insuff...	ORPHA:138
Craniosynostosis And Dental Anomalies	Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Sagittal craniosynostosis, ...	OMIM:614188
Spondyloenchondrodysplasia	Pneumonia, Raynaud phenomenon, Kyphosis, Vasculitis, Hypertension, Platyspondyly, Arthritis, Juve...	ORPHA:1855
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal c...	ORPHA:582
Sotos Syndrome	Joint laxity, Sacrococcygeal teratoma, Hip contracture, Ventricular septal defect, Ankle flexion ...	ORPHA:821
Atelis Syndrome 2	Frontal bossing, Sacral dimple, Kyphosis, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonar...	OMIM:620185
Galloway-Mowat Syndrome 3	Frontal bossing, Edema, Hip dislocation, Coarctation of aorta, Hypertension, Camptodactyly, Midfa...	OMIM:617729
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Radial head subluxation, Hemivertebrae, Hip ...	OMIM:146510
Ollier Disease	Multiple enchondromatosis, Abnormal cartilage morphology	ORPHA:296
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Lopes-Maciel-Rodan Syndrome	Ankle clonus, Kyphosis, Scoliosis	OMIM:617435
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Frontal bossing, Central apnea, Lumbar hyperlordosis, Kyphosis, Congestive ...	OMIM:616482
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Conge...	OMIM:314580
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Autosomal Recessive Robinow Syndrome	Frontal bossing, Sacral dimple, Recurrent respiratory infections, Ventricular septal defect, Abno...	ORPHA:1507
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Frontal bossing, Apnea, Polyhydramnios, Increased nuchal translucency, Abno...	ORPHA:1052
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Wide anteri...	OMIM:610915
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Slc39A8-Cdg	Osteopenia, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Knee flexion cont...	ORPHA:468699
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Coarctation of aorta, Bifid thoracic vertebrae, Trach...	ORPHA:268249
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Chronic bronchitis...	OMIM:253220
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Frontal bossing, Prominent metopic ridge, Recurrent respiratory infections, Edema, Sh...	OMIM:266920
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:614409
Marden-Walker Syndrome	Dextrocardia, Short neck, Kyphosis, Wide anterior fontanel, Congenital contracture, Radioulnar sy...	OMIM:248700
Occipital Horn Syndrome	Joint laxity, Orthostatic hypotension, Persistent open anterior fontanelle, Kyphosis, Capitate-ha...	OMIM:304150
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Doors Syndrome	Respiratory distress, Frontal bossing, Polyhydramnios, Sagittal craniosynostosis, Hemivertebrae, ...	ORPHA:79500
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Platyspond...	ORPHA:50945
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Decreased skull ossification, Patent ductus arteriosus, Osteoporosis, Joi...	ORPHA:955
Nablus Mask-Like Facial Syndrome	Frontal bossing, Craniosynostosis, Short neck, Camptodactyly, Joint contracture of the hand	OMIM:608156
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness,...	OMIM:607015
Digeorge Syndrome	Pilonidal sinus, Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Chronic pulmon...	OMIM:188400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger, Ankle flexion cont...	ORPHA:468631
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios...	ORPHA:1199
Roberts Syndrome	Progressive flexion contractures, Polyhydramnios, Short neck, Craniosynostosis, Patellar aplasia,...	ORPHA:3103
Fountain Syndrome	Craniofacial hyperostosis, Facial edema, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:3219
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Pulmonary l...	ORPHA:805
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal heart valve morphology, Abnormal pulmonary valve morph...	ORPHA:580
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Aortic regurgitation, Joint laxity, Osteomyelitis, Bicuspid aortic valve, Ventricular ...	OMIM:619475
Branchioskeletogenital Syndrome	Thickened calvaria, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscoliosis,...	ORPHA:1299
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Oligoh...	OMIM:615846
Pseudoaminopterin Syndrome	Frontal bossing, Limited elbow movement, Sagittal craniosynostosis, Dolichocephaly, Sacrococcygea...	ORPHA:221120
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Delayed cranial suture closure, Venous insufficiency, Kyphosis, Osteopo...	ORPHA:198
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Hemivertebrae, C...	OMIM:264480
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, In...	OMIM:619534
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Prominent metopic ridge, Palpebral edema, Scoliosis	ORPHA:261144
Tetrasomy 9P	Joint dislocation, Sacral dimple, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardi...	ORPHA:3310
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint stiffness, Short neck, ...	ORPHA:583
Schaaf-Yang Syndrome	Frontal bossing, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiple...	OMIM:615547
Pagod Syndrome	Sudden cardiac death, Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morpho...	ORPHA:991
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Flexion contrac...	ORPHA:3409
Curry-Jones Syndrome	Wormian bones, Bicoronal synostosis, Unicoronal synostosis	OMIM:601707
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Patent ductus arteriosus, Coarctation of aorta, Plagiocephaly, Scoliosis, Dolich...	OMIM:619480
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral seg...	ORPHA:1005
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Ruvalcaba Syndrome	Kyphosis, Limited elbow extension, Scoliosis	OMIM:180870
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr...	OMIM:265000
Saethre-Chotzen Syndrome	Parietal foramina, Oxycephaly, Brachycephaly, Abnormal heart morphology, Plagiocephaly, Radioulna...	OMIM:101400
Pituitary Adenoma 4, Acth-Secreting	Edema, Kyphosis, Osteoporosis, Hypertension, Biconcave vertebral bodies, Ecchymosis, Vertebral co...	OMIM:219090
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short neck, Parietal foramina, Congestive heart fa...	OMIM:105650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Brachycephaly, Scoliosis	ORPHA:236
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Telangiectasia of the skin, Kyphosis, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Cerebrooculonasal Syndrome	Frontal bossing, Craniosynostosis, Brachycephaly, Proboscis	OMIM:605627
Weismann-Netter Syndrome	Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Left superior vena cava drai...	ORPHA:464738
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Dyspnea, Pate...	ORPHA:2554
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Short neck, Kyphosis, Congestive heart failure, Flexion contract...	OMIM:309900
Hurler Syndrome	Aortic regurgitation, Frontal bossing, Recurrent respiratory infections, Short neck, Joint stiffn...	OMIM:607014
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Ventricu...	ORPHA:508498
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Scoliosis, Abnormal pattern of respiration	ORPHA:3095
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	OMIM:211530
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Polyhydramnios, Kyphosis, Dyspnea, Plagiocephal...	ORPHA:2215
Lymphangioleiomyomatosis	Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Thickened calvaria, Joint laxity, Frontal bossing, Ventricular septal defect, Left ventricular no...	OMIM:300967
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Chédiak-Higashi Syndrome	Pericardial effusion, Pleural effusion, Edema	ORPHA:167
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Atrial septal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Atrial septal ...	ORPHA:353277
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Kyphosis, Brachycephaly, Abnormal heart morphology, Scoliosis	ORPHA:404440
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Pelger-Huet Anomaly	Kyphosis, Frontal bossing, Ventricular septal defect	OMIM:169400
17Q11 Microdeletion Syndrome	Osteopenia, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebral arter...	ORPHA:97685
Peters-Plus Syndrome	Joint laxity, Frontal bossing, Ventricular septal defect, Polyhydramnios, Short neck, Limited elb...	OMIM:261540
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility	OMIM:219080
Cranioectodermal Dysplasia 1	Joint laxity, Frontal bossing, Recurrent respiratory infections, Bicuspid aortic valve, Sagittal ...	OMIM:218330
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility	OMIM:610475
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
15q26 overgrowth syndrome	Camptodactyly of finger, Craniosynostosis, Short neck, Abnormal joint morphology, Scoliosis, Join...	DECIPHER:81
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Tracheomalacia	ORPHA:513456
Holoprosencephaly	Frontal bossing, Flat occiput, Ventricular septal defect, Abnormal pulmonary valve morphology, Sh...	ORPHA:2162
Noonan Syndrome 14	Aortic regurgitation, Polyhydramnios, Short neck, Kyphosis, Mitral valve prolapse, Pulmonic steno...	OMIM:619745
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Craniosynostosis, Flexion contracture, Brachycephaly, Scoliosis, Camptodactyly, Trigonocephaly	OMIM:309590
Robinow Syndrome	Fused thoracic vertebrae, Frontal bossing, Ventricular septal defect, Kyphoscoliosis, Hemivertebr...	ORPHA:97360
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Frontal bossing, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosi...	OMIM:618019
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Frontal bossing, Short neck	ORPHA:3082
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Cleft verte...	ORPHA:83617
15Q24 Microdeletion Syndrome	Joint laxity, Kyphosis, Scoliosis, Abnormal heart morphology	ORPHA:94065
Cleidocranial Dysplasia 1	Respiratory distress, Frontal bossing, Persistent open anterior fontanelle, Increased bone minera...	OMIM:119600
Catel-Manzke Syndrome	Joint dislocation, Joint laxity, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Trisomy 20P	Frontal bossing, Camptodactyly of finger, Short neck, Kyphosis, Brachycephaly, Abnormal form of t...	ORPHA:261318
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Joint laxity, Porta...	OMIM:194050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:1521
16Q24.3 Microdeletion Syndrome	Frontal bossing, Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Mitral regurgitatio...	ORPHA:261250
Schwartz-Jampel Syndrome	Apnea, Polyhydramnios, Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Incr...	ORPHA:800
Marinesco-Sjogren Syndrome	Cubitus valgus, Kyphosis, Flexion contracture, Scoliosis	OMIM:248800
Noonan Syndrome 1	Abnormal bleeding, Ventricular septal defect, Kyphoscoliosis, Lymphedema, Short neck, Patent duct...	OMIM:163950
Mullegama-Klein-Martinez Syndrome	Frontal bossing, Coarctation of aorta, Hypoplastic left heart, Apical muscular ventricular septal...	OMIM:301022
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an...	OMIM:278250
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Aplasia of the epiglottis, Coarct...	OMIM:617088
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Fucosidosis	Kyphosis, Brachycephaly, Anterior beaking of lumbar vertebrae, Cardiomegaly	ORPHA:349
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Abnormal lung lobation, Pulmonary hypoplasi...	ORPHA:958
Ruvalcaba Syndrome	Kyphosis, Abnormality of the elbow, Scoliosis, Abnormal vertebral epiphysis morphology, Synostosi...	ORPHA:3121
Spondyloarthropathy, Susceptibility To, 1	Back pain, Aortic regurgitation, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip ...	OMIM:106300
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis	ORPHA:364028
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Prominent metopic ridge, Camptodactyly of...	ORPHA:261349
Cono-Spondylar Dysplasia	Polyhydramnios, Short neck, Kyphosis, Scoliosis, Midface retrusion	ORPHA:420794
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis	OMIM:181405
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis	ORPHA:79396
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Kypho...	ORPHA:464311
Charge Syndrome	Atrial septal defect, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atria...	OMIM:214800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Kyphosis	OMIM:300354
Coffin-Lowry Syndrome	Frontal bossing, Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Join...	ORPHA:192
Gabriele-De Vries Syndrome	Craniosynostosis, Ebstein anomaly of the tricuspid valve, Patellar subluxation, Distal arthrogryp...	ORPHA:506358
Alagille Syndrome 1	Frontal bossing, Butterfly vertebral arch, Ventricular septal defect, Hemivertebrae, Coarctation ...	OMIM:118450
Weaver Syndrome	Flat occiput, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly, Limited knee extensio...	OMIM:277590
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s...	ORPHA:1724
Craniofacial Microsomia 1	Block vertebrae, Ventricular septal defect, Patent ductus arteriosus, Hemivertebrae, Coarctation ...	OMIM:164210
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Short neck, Ankle flexion contracture, Craniosynostosi...	OMIM:268300
Fanconi Anemia	Frontal bossing, Dolichocephaly, Patent ductus arteriosus, Hip dislocation, Reduced bone mineral ...	ORPHA:84
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates...	OMIM:271700
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosi...	OMIM:259770
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, ...	OMIM:201750
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte...	ORPHA:96169
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility	OMIM:610489
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty	ORPHA:91347
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Atrial septal defect, Pulmon...	OMIM:616449
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ...	OMIM:618493
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Kyphosis, Joint hyperflexibility, Scoliosis, Genu varum	ORPHA:2479
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Biparietal narrowing, Scol...	ORPHA:85293
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Trigonocephaly, Shor...	ORPHA:251014
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Hip dislocation, R...	ORPHA:140
Rett Syndrome	Apnea, Intermittent hyperventilation, Kyphosis, Scoliosis, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Gitelman Syndrome	Pericardial effusion, Delayed puberty	ORPHA:358
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis	OMIM:618443
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Asthma, Flexion contracture, Brachycephaly, Plagiocephaly, Scoliosis	ORPHA:500055
Hardikar Syndrome	Ventricular septal defect, Thoracolumbar scoliosis, Portal hypertension, Hematemesis, Pulmonary a...	OMIM:301068
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosi...	OMIM:239000
Floating-Harbor Syndrome	Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Kypho...	OMIM:136140
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis	OMIM:601374
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Kyphosis, Patent du...	ORPHA:464306
Alexander Disease	Osteopenia, Frontal bossing, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Respirato...	ORPHA:58
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Kyphosis, Pulmonic stenosis, Camptodactyly, Atrioventricular canal defect	OMIM:619123
Hartsfield Syndrome	Craniosynostosis, Hypoplasia of the frontal bone	OMIM:615465
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis, Midface retrusion, Hip subluxation	OMIM:619557
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hemivertebrae, Perimembranous ventricular se...	OMIM:301040
Monosomy 9Q22.3	Short neck, Kyphosis, Cardiac fibroma, Joint hyperflexibility, Abnormality of the vertebral colum...	ORPHA:77301
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Neonatal respiratory distress, Decreased heart rate variability, Kyphosis, Plagi...	OMIM:619005
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix	ORPHA:2347
Jaberi-Elahi Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness	OMIM:617988
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr...	ORPHA:261537
Wolf-Hirschhorn Syndrome	Frontal bossing, Sacral dimple, Recurrent respiratory infections, Abnormal heart valve morphology...	ORPHA:280
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Increased bone mineral density, Kyphosis, Cranial hyperostosis, Limitation of...	ORPHA:2658
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Frontal bossing, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnorm...	ORPHA:261552
Harrod Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2115
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion	OMIM:181000
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Brachycephaly	OMIM:619244
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Short neck, Kyphosis, Patent ductus arteriosus, Increa...	ORPHA:818
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis	ORPHA:90322
Rett Syndrome, Congenital Variant	Kyphosis, Midface retrusion, Scoliosis, Aspiration	OMIM:613454
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Prader-Willi Syndrome	Osteopenia, Hypoventilation, Recurrent respiratory infections, Polyhydramnios, Kyphosis, Osteopor...	OMIM:176270
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Arterial stenosis, Genu valgum, Hypertension, Sco...	ORPHA:636
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Xerostomia, Osteopor...	ORPHA:398069
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Scoliosis	ORPHA:88644
Postencephalitic Parkinsonism	Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough	ORPHA:97349
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Flat occiput, Short neck, Kyphosis, Prominent protruding coccyx, Promi...	OMIM:300966
Cohen Syndrome	Ventricular septal defect, Kyphosis, Mitral valve prolapse, Genu valgum, Joint hyperflexibility, ...	ORPHA:193
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Edema of the dorsum ...	ORPHA:521426
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypoplasia,...	OMIM:619708
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Cockayne Syndrome A	Thickened calvaria, Hip contracture, Kyphosis, Limitation of joint mobility, Ivory epiphyses of t...	OMIM:216400
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Genitopalatocardiac Syndrome	Kyphosis, Abnormal cardiac septum morphology, Scoliosis	ORPHA:2075
Camurati-Engelmann Disease	Frontal bossing, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Limitation of joint mobili...	ORPHA:1328
Cockayne Syndrome	Kyphosis, Retinal hemorrhage, Hypertension, Contractures of the large joints, Retinal arteriolar ...	ORPHA:191
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Edema, Kyphosis, Respiratory insufficiency, Contractures of the large joints	OMIM:617527
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Mend Syndrome	Sacral dimple, Kyphosis, Wide anterior fontanel, Abnormal heart morphology, Aortic valve stenosis...	ORPHA:401973
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Polyhydramnio...	OMIM:216340
Micro Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:2510
Igg4-Related Kidney Disease	Pericarditis, Abnormal lung morphology, Pedal edema, Interstitial pneumonitis, Abnormal aortic mo...	ORPHA:449395
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis	OMIM:300942
Coffin-Siris Syndrome 1	Joint laxity, Frontal bossing, Sacral dimple, Recurrent respiratory infections, Ventricular septa...	OMIM:135900
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
Leukocyte Adhesion Deficiency	Abnormal bleeding, Sinusitis, Osteomyelitis, Pneumonia, Lymphocytic interstitial pneumonia, Respi...	ORPHA:2968
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Joint stiffness, Situs inversus...	ORPHA:2461
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Kyphosis, Congestive hear...	OMIM:615512
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Stickler Syndrome	Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Kyphosis, Osteoarthriti...	ORPHA:828
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Kyphosis, Brachycephaly, Platyspondyly, Mitral re...	OMIM:208400
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Midface retrusion	OMIM:609944
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Complete atrioventricular canal defect, Scoliosis	ORPHA:476126
Mend Syndrome	Sacral dimple, Kyphosis, Small anterior fontanelle, Aortic valve stenosis, Midface retrusion	OMIM:300960
X-Linked Intellectual Disability, Snyder Type	Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Brachycephaly, Camptodactyly, Cerebr...	ORPHA:3063
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Metop...	ORPHA:457359
Microphthalmia, Syndromic 6	Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion	OMIM:607932
Oculocerebrorenal Syndrome Of Lowe	Frontal bossing, Recurrent respiratory infections, Flat occiput, Osteomalacia, Recurrent fracture...	ORPHA:534
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Flat occiput, Kyphosis, Osteoporosis, Contracture of the proxim...	ORPHA:2232
Poland Syndrome	Dextrocardia, Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduced bone mineral den...	ORPHA:2911
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Frontal bossing, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617011
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, As...	OMIM:619482
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Genu ...	OMIM:619194
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis, Neonatal respiratory distress, Ventricular septal defect	ORPHA:1393
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morpholo...	ORPHA:268261
Acromegaly	Frontal bossing, Palpebral edema, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, ...	ORPHA:963
Somatomammotropinoma	Frontal bossing, Palpebral edema, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, ...	ORPHA:314769
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Delayed closure of the anterior fontanelle, Kyphosis, Lu...	OMIM:303600
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Telangiectasia	OMIM:266270
Cockayne Syndrome B	Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the han...	OMIM:133540
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Hip dislocation, Abnormal f...	OMIM:194190
Spondyloepiphyseal Dysplasia Tarda	Abnormal cartilage morphology	ORPHA:93284
Pmm2-Cdg	Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy	ORPHA:79318
Cowden Syndrome	Kyphosis, Bone cyst, Scoliosis, Mucosal telangiectasiae	ORPHA:201
Shprintzen Omphalocele Syndrome	Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant...	OMIM:300106
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis	ORPHA:171629
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Frontal bossing, Recurrent respiratory infections, Camptodactyly of finger, Kyphosis, Platyspondy...	ORPHA:2273
Primrose Syndrome	Hip contracture, Joint hypermobility, Kyphosis, Flexion contracture, Osteoporosis, Brachycephaly,...	OMIM:259050
Branchiooculofacial Syndrome	Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles, Do...	OMIM:113620
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Portal hypertension, Kyphosis, Congestive heart failure...	ORPHA:64
Multiple Self-Healing Squamous Epithelioma, Susceptibility To		OMIM:132800

Histopathology

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

There is no histopathology data for Tgfbr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tgfbr1.

No publications found that use IMPC mice or data for Tgfbr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tgfbr1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Tgfbr1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tgfbr1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgfbr1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tgfbr1^{tm3a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgfbr1^{tm3e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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