Not currently registered for phenotyping at IMPC

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

Gene Summary

transforming growth factor, beta receptor I
Alk-5,  ALK5,  TbetaRI,  TbetaR-I

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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