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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes
Matching phenotypes Source
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Chronic pulmonary obstruction, Ascending aortic dissection, Scoliosis, Art... OMIM:619825
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Asthma, Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolu... OMIM:130090
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Marfanoid Habitus With Situs Inversus
Kyphosis, Genu recurvatum, Hyperextensibility of the finger joints, Pulmonic stenosis, Scoliosis,... OMIM:609008
16P13.11 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Dolichocephaly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 66
Plagiocephaly, Secundum atrial septal defect, Scoliosis, Cerebral cavernous malformation, Transpo... OMIM:619910
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm OMIM:604308
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Ventricular septal defect, Aortic root aneurysm, Scaphocephaly, Patellar ... OMIM:121050
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... OMIM:616166
Igg4-Related Aortitis
Asthma, Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch... ORPHA:449400
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Diffuse alveolar hemorrha... ORPHA:199241
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Spondylolisthesis, Bruising susceptibility, Dolichocephaly, Aortic tortuos... OMIM:614816
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Scoliosis, Abdominal aortic aneurysm, Aortic arch an... OMIM:617168
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... ORPHA:2038
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation, Craniosynostosis OMIM:225755
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Scoliosis, Camptodactyly, Ventricular septal defect, ... OMIM:301039
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Bruising susceptibility, G... OMIM:618000
Meester-Loeys Syndrome
Joint dislocation, Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Cervical... OMIM:300989
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Periventricular Nodular Heterotopia
Joint hypermobility, Abnormal bleeding, Shoulder dislocation, Scoliosis, Aortic regurgitation, Pa... ORPHA:98892
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, Mitral valve prolapse, Aortic ... ORPHA:171881
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Arterial rupture, Patell... ORPHA:1900
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Stroke, Heart murmur, Cough, Dilatation of the sinus of Valsalva, Aortic ... ORPHA:1054
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Abnormal carotid artery morphology, Craniosynos... ORPHA:3342
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Coronal craniosynostosis, Ventricular septal defect, Frontal bossing, Sagit... OMIM:145420
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Loeys-Dietz Syndrome
Joint dislocation, Bruising susceptibility, Craniosynostosis, Abnormal bleeding, Camptodactyly of... ORPHA:60030
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Stroke, Craniosynostosis, Osteopenia, Repeated... ORPHA:536467
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Bruising susceptibility, Hyperextensibility of the finger joints, Hyperextensi... 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
Kyphoscoliosis, Joint dislocation, Genu recurvatum, Atrial septal defect, Bruising susceptibility... ORPHA:230851
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Craniosynostosis 1
Oxycephaly, Aortic valve stenosis, Craniosynostosis, Dolichocephaly, Systolic heart murmur, Promi... OMIM:123100
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Craniosynostosis, Pulmonary artery aneurysm, Ascendi... OMIM:609192
Boudin-Mortier Syndrome
Mitral valve prolapse, Joint laxity, Aortic root aneurysm OMIM:619543
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Bruising susceptibility, Craniosynostosis, Hyperextensibility of the finger joints, Mit... OMIM:616914
Loeys-Dietz Syndrome 2
Craniosynostosis, Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Spon... OMIM:610168
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Craniosynostosis, Aortic tortuosity, Subarachnoid hemorrhage, Dilatat... OMIM:613795
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Marfanoid Hypermobility Syndrome
Joint hypermobility, Mitral regurgitation, Scoliosis, Aortic regurgitation, Aortic aneurysm OMIM:154750
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Patent ductu... ORPHA:404443
Craniorhiny
Turricephaly, Oxycephaly, Craniosynostosis OMIM:123050
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Phalangeal dislocation, Aortic root aneurysm, Carotid artery stenosis, Sacral dimple,... ORPHA:536532
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Intervertebral disc degeneration, Scoliosis,... OMIM:619656
Giant Cell Arteritis
Joint stiffness, Double outlet right ventricle with subpulmonary ventricular septal defect withou... ORPHA:397
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Atrioventricular canal defect, Unbalanced atriove... OMIM:618300
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Abnormal pattern of respiration, V... ORPHA:3287
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Dolichocephaly, Short neck, Frontal bossing, Patent ductus arteriosus, Sacral d... ORPHA:1516
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Ehlers-Danlos Syndrome, Vascular Type
Finger joint hypermobility, Hemothorax, Foot acroosteolysis, Repeated pneumothoraces, Hypermobili... OMIM:130050
Aneurysm-Osteoarthritis Syndrome
Dilatation of the sinus of Valsalva, Aortic dissection, Knee osteoarthritis, Abnormal heart morph... ORPHA:284984
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Osteopenia, Short neck, Platyspondyly, Radioulnar synostosis, Genu valgum, Aort... OMIM:245600
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Atrial septal defect, Spondylolisthesis, Bruising susceptibility, Dolichocephaly,... OMIM:615582
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Bruising susceptibility, Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins, A... OMIM:618343
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis, Abnormal heart morphology OMIM:218450
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Scoliosis, Mitral valve prolapse, Joint laxity, Aortic root aneurysm, Hypertension ORPHA:449291
X Small Rings
Mitral stenosis, Bicuspid aortic valve, Reduced bone mineral density, Short neck, Osteoporosis, V... ORPHA:96201
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of the vertebral ... ORPHA:1354
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... ORPHA:363618
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Foam cells, Hypoplastic... OMIM:230650
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Tachypnea, Aorti... OMIM:613834
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Craniosynost... OMIM:617506
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Atrial septal defect, Mitral regurgitation, Ventricular septal defe... OMIM:603387
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Thickened calvaria, Increased bone mineral density, Craniosynostosis ORPHA:178377
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... OMIM:617577
Craniosynostosis 3
Right unicoronal synostosis, Sagittal craniosynostosis, Left unicoronal synostosis, Bicoronal syn... OMIM:615314
Marfan Syndrome
Osteopenia, Aortic tortuosity, Spontaneous pneumothorax, Arthralgia/arthritis, Spondylolisthesis,... ORPHA:558
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Frontal bossing, Patent ductus arteriosus, Transposi... OMIM:612474
Immunodeficiency 23
Asthma, Vasculitis in the skin, Scoliosis, Allergic rhinitis, Aortic root aneurysm, Joint hypermo... OMIM:615816
Temtamy Syndrome
Dolichocephaly, Joint hyperflexibility, Genu varum, Aortic aneurysm ORPHA:1777
Koolen-De Vries Syndrome
Kyphosis, Bicuspid aortic valve, Atrial septal defect, Spondylolisthesis, Pulmonic stenosis, Prom... OMIM:610443
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... ORPHA:284979
Lowry-Maclean Syndrome
Abnormal heart morphology, Craniosynostosis OMIM:600252
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Coarctation of aorta, Abnormal for... ORPHA:2876
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Ventricular septal defect, Polyhydramnios, Pulmonary hypoplasia, Aor... OMIM:620025
Osteogenesis Imperfecta, Type I
Recurrent fractures, Bruising susceptibility, Biconcave flattened vertebrae, Osteopenia, Aortic a... OMIM:166200
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Craniosynostosis OMIM:185700
Opitz Gbbb Syndrome
Vertebral segmentation defect, Atrial septal defect, Tracheomalacia, Craniosynostosis, Prominent ... ORPHA:2745
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Scaphocephaly, Ventricular septal defect, Trigonocephaly, Craniosynostosis OMIM:616901
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Aortic dissection, Aortic root aneurysm, ... OMIM:154700
Alkaptonuria
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... OMIM:203500
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Frontal bossing, Orbital craniosynostosis ORPHA:1538
Congenital Contractural Arachnodactyly
Joint stiffness, Flexion contracture, Camptodactyly of finger, Scoliosis, Congenital kyphoscolios... ORPHA:115
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Joint contracture of the hand, Craniosynostosis, Scoliosis, Thoracolumbar scoliosis, Arthropathy,... OMIM:618523
Carpenter Syndrome
Kyphoscoliosis, Craniosynostosis, Cloverleaf skull, Genu valgum, Patent ductus arteriosus, Turric... ORPHA:65759
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Fragile X Syndrome
Sinusitis, Frontal bossing, Mitral valve prolapse, Joint laxity, Ascending tubular aorta aneurysm ORPHA:908
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Coarctati... OMIM:601612
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Osteogenesis Imperfecta
Osteopenia, Biconcave vertebral bodies, Genu valgum, Aortic dissection, Pulmonary hypoplasia, Aor... ORPHA:666
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Trigonocephaly With Short Stature And Developmental Delay
Premature posterior fontanelle closure, Ventricular septal defect, Small anterior fontanelle, Sag... OMIM:314320
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Craniosynostosis OMIM:600593
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Respiratory insufficiency, Tetralogy of Fallot, V... ORPHA:1166
Enlarged Parietal Foramina
Parietal foramina, Abnormal cerebral vein morphology, Venous malformation, Craniosynostosis ORPHA:60015
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis OMIM:218530
Multiple Osteochondromas
Hemothorax, Talipes valgus, Arthritis, Abnormal bone structure, Limitation of knee mobility, Genu... ORPHA:321
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Scoliosis, Abnormal form ... ORPHA:40
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stroke, Medial calcification of medium-sized arteries, Aortic dissection, V... ORPHA:51608
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Ventricular septal d... ORPHA:3369
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Adducted Thumbs Syndrome
Respiratory insufficiency, Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta, Flat occiput, Bicoronal synostosis, Delayed closure of the anter... OMIM:618736
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Patent ductus arteriosus, Atrial septal defect OMIM:241310
Distal Tetrasomy 15Q
Kyphosis, Atrial septal defect, Flexion contracture, Craniosynostosis, Scoliosis, Camptodactyly, ... ORPHA:314588
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Dilatation of the cerebral artery, ... ORPHA:730
Rin2 Syndrome
Joint hypermobility, Bruising susceptibility, Upper eyelid edema, Scoliosis, Increased susceptibi... ORPHA:217335
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis ORPHA:88643
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta, Genu varum ORPHA:1110
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Hypophosphatasia, Childhood
Dolichocephaly, Frontal bossing, Craniosynostosis OMIM:241510
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Short neck, Flat occiput, Patent ductus arteriosus, Abnormal aortic morph... ORPHA:2001
Trigonocephaly 1
Lumbar hemivertebrae, Trigonocephaly, Craniosynostosis OMIM:190440
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Delayed cranial suture closure, ... OMIM:175700
Hypophosphatasia, Infantile
Apnea, Widely patent fontanelles and sutures, Craniosynostosis, Vertebral clefting, Decreased cal... OMIM:241500
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Craniosynostosis, Osteopenia, Scoliosis, Frontal bossing, Recurrent pneumoni... OMIM:147060
Sandhoff Disease
Kyphosis, Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart failure ORPHA:796
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Flexion contracture, Ankle clonus, Talipes valgus, Aortic root aneurysm OMIM:618891
Zimmermann-Laband Syndrome 1
Dolichocephaly, Hyperextensibility of the finger joints, Scoliosis, Spina bifida occulta, Aortic ... OMIM:135500
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis OMIM:218650
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Scoliosis, Spina bifida occulta,... OMIM:616602
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum OMIM:168400
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic ste... OMIM:608328
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Craniosynostosis, Radioulnar synostosis, Patent ductus arteriosus, Large fontanell... ORPHA:171839
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1727
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Osteopenia, Orthostatic hypotension, Phalangeal dislocation, Arterial r... ORPHA:287
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Craniosynostosis, Scoliosis, Genu varum, Copper beaten skull, Joint laxity,... OMIM:619451
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Holt-Oram Syndrome
Joint stiffness, Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic l... ORPHA:392
Craniosynostosis 2
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... OMIM:604757
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... ORPHA:42775
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Asthma, Plagiocephaly, Sleep apnea, Tracheomalacia, Aspiration p... ORPHA:444077
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Joint stiffness, Short neck, Abnormal lung lobation, Ventricular septal defect, Abnormal aortic m... ORPHA:2516
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis, Dilated car... OMIM:300718
Temtamy Syndrome
Hip dislocation, Aortic regurgitation, Frontal bossing, Aortic aneurysm OMIM:218340
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Respiratory insufficiency due to muscle weakness OMIM:617087
Methimazole Embryofetopathy
Calvarial skull defect, Coarctation of aorta, Ventricular septal defect, Polyhydramnios, Abnormal... ORPHA:1923
Lowry-Maclean Syndrome
Widely patent coronal suture, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Osteop... ORPHA:2409
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Au-Kline Syndrome
Dolichocephaly, Scoliosis, Sacral dimple, Craniosynostosis OMIM:616580
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Scoliosis, Cough, Vascular dila... ORPHA:2314
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis OMIM:608432
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Scoliosis, Joint hypermobility OMIM:618906
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Carpenter Syndrome 1
Short neck, Ventricular septal defect, Genu valgum, Sagittal craniosynostosis, Lateral displaceme... OMIM:201000
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Cockayne Syndrome Type 3
Kyphosis, Stroke, Subdural hemorrhage, Premature coronary artery atherosclerosis, Flexion contrac... ORPHA:90324
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect, Right ventricular hypertrophy, Short ... ORPHA:280633
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Osteopenia, Mitral regurgitation, Pulmonary insufficiency, Osteopo... ORPHA:2326
Cole-Carpenter Syndrome 2
Kyphosis, Coronal craniosynostosis, Osteopenia, Oligohydramnios, Platyspondyly, Wormian bones, Fr... OMIM:616294
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finger, Genu valgum ORPHA:3210
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Rare Circulatory System Disease
Intermittent claudication, Arterial calcification, Abnormal vascular morphology, Spinal rigidity,... ORPHA:98028
Mosaic Variegated Aneuploidy Syndrome 2
Sleep apnea, Atrial septal defect, Craniosynostosis, Dolichocephaly, Coarctation of aorta, Abnorm... OMIM:614114
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Wide anterior fontanel, Genu recurvatum, Joint contracture of the hand, C... OMIM:182212
Heart And Brain Malformation Syndrome
Wide anterior fontanel, Camptodactyly of finger, Prominent metopic ridge, Prominent occiput, Vent... OMIM:616920
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Ab... ORPHA:101028
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Craniosynostosis, Midface retrusion, Polyhydramnios, Patent ductus arterios... ORPHA:1790
Cutis Laxa, Autosomal Recessive, Type Ia
Vascular tortuosity, Joint laxity, Emphysema, Ascending tubular aorta aneurysm, Oligohydramnios, ... OMIM:219100
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Frontal bossing, Atrial septal defect, Coarctation of aorta OMIM:614300
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Brachycephaly, Craniosynostosis OMIM:614416
Alg3-Cdg
Osteopenia, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Arthrogryposis multi... ORPHA:79321
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Oligohydramnios, Hematochezia, Sacra... ORPHA:261311
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Apnea, Hyperextensibility of the finger joints, Congen... OMIM:619797
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Craniosynostosis, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Turricephaly ORPHA:2145
Fg Syndrome Type 1
Plagiocephaly, Widely patent fontanelles and sutures, Atrial septal defect, Generalized joint lax... ORPHA:93932
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Ventricular septal defect, Osteolysis, Pterygium, Osteolysis involving tarsal bones, ... ORPHA:371428
Diabetic Embryopathy
Vertebral segmentation defect, Tetralogy of Fallot, Ventricular septal defect, Frontal bossing, A... ORPHA:1926
Non-Specific Syndromic Intellectual Disability
Kyphosis, Scoliosis, Pulmonary artery dilatation, Aortic root aneurysm, Joint hypermobility ORPHA:528084
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... OMIM:277950
Cole-Carpenter Syndrome 1
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Scoliosis, F... OMIM:112240
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Scoliosis, Ulnar deviation of the wrist, Brachycephaly, Mi... OMIM:618577
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis OMIM:601370
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Spina bifida occulta, Bicuspid aortic valve, Craniosynostosis OMIM:300707
Epidermal Nevus Syndrome
Spinal canal stenosis, Osteopenia, Thoracolumbar scoliosis, Aortic aneurysm ORPHA:35125
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Bruising susceptibility, Osteopenia, Scoliosis, Congenital bilateral... OMIM:130060
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Parietal bossing, Pu... OMIM:619343
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Craniosynostosis, Heart murmur, Ventricular septal defect, Frontal bossing, Abnormal vena cava mo... ORPHA:166035
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vertebral segmentation defect, Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, Cranio... ORPHA:453499
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Thanatophoric Dysplasia
Joint stiffness, Kyphosis, Atrial septal defect, Increased nuchal translucency, Respiratory insuf... ORPHA:2655
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Butterfly vertebrae, Craniosyn... OMIM:301056
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Atrial septal defect, Craniosynostosis, Ventricular septal defect, Patent ductus a... ORPHA:457193
Frontoocular Syndrome
Coronal craniosynostosis, Pulmonic stenosis, Trigonocephaly, Atrial septal defect OMIM:605321
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia, Camptodactyly OMIM:618453
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Kyphosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Sc... OMIM:177850
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Heart murmur, Basilar artery calcification, Transient ischemic attack, Resp... ORPHA:365
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... OMIM:313420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Congenital hip dislocation, Scoliosis, Respiratory failure, Arthro... OMIM:618291
Crouzon Syndrome
Respiratory insufficiency, Frontal bossing, Multiple suture craniosynostosis, Abnormal sacrum mor... ORPHA:207
Cranioectodermal Dysplasia
Craniosynostosis, Dolichocephaly, Osteoporosis, Prominent occiput, Frontal bossing, Joint hyperfl... ORPHA:1515
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Increased bone mineral density, Osteopetrosis, Delayed cranial suture clos... ORPHA:2780
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Dolichocephaly, Sagittal craniosynostosis, Plantar flexion contractures, Cont... ORPHA:2872
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Slc35A2-Cdg
Craniosynostosis, Osteopenia, Camptodactyly of finger, Scoliosis, Tetralogy of Fallot, Hip sublux... ORPHA:356961
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Finger joint hypermobility, Anomalous branches of internal carotid ... ORPHA:363705
Craniofrontonasal Dysplasia
Plagiocephaly, Craniosynostosis, Camptodactyly of finger, Scoliosis, Frontal bossing, Brachycepha... ORPHA:1520
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... ORPHA:881
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Larsen Syndrome
Beaking of vertebral bodies, Accessory carpal bones, Knee dislocation, Atrial septal defect, Trac... OMIM:150250
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Emphysema, Large fontanelles ORPHA:436
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Craniosynostosis, Osteopenia, Mitral regurgitation, ... ORPHA:457395
Macs Syndrome
Joint hypermobility, Bruising susceptibility, Palpebral edema, Scoliosis, Osteoporosis, Joint lax... OMIM:613075
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Craniosynostosis, Dolichocephaly, Short neck, Limited elbow extension, Fron... OMIM:609625
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal crani... OMIM:101200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Cdags Syndrome
Kyphosis, Parietal foramina, Coronal craniosynostosis, Delayed cranial suture closure, Frontal bo... OMIM:603116
Grange Syndrome
Recurrent fractures, Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension, ... OMIM:602531
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Genu valgum, Patellar dislocation OMIM:614078
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Bruising susceptibility, Dolichocephaly, Pulmonic... OMIM:609942
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... OMIM:600175
3Mc Syndrome 1
Wide anterior fontanel, Atrial septal defect, Coronal craniosynostosis, Conjunctival telangiectas... OMIM:257920
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites ORPHA:2414
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Midface retrusion, Craniosynostosis OMIM:123150
Thanatophoric Dysplasia Type 2
Kyphosis, Limitation of joint mobility, Atrial septal defect, Increased nuchal translucency, Resp... ORPHA:93274
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... ORPHA:1041
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Metaphyseal Acroscyphodysplasia
Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Genu varum, Scoliosis, Frontal bossi... OMIM:250215
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis ORPHA:380
Chromosome 1P36 Deletion Syndrome, Distal
Wide anterior fontanel, Bicuspid aortic valve, Atrial septal defect, Camptodactyly of finger, Sco... OMIM:607872
Mucopolysaccharidosis, Type Ivb
Kyphosis, Aortic valve stenosis, Recurrent upper respiratory tract infections, Platyspondyly, Sco... OMIM:253010
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Congenital hip dislocation, Pulmonary artery aneurysm, Osteolysis, Ao... ORPHA:286
Monosomy 18Q
Absence of the pulmonary valve, Kyphoscoliosis, Secundum atrial septal defect, Joint hypermobilit... ORPHA:1600
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Bone cyst, Scoliosis, Atherosclerosis ORPHA:2047
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... ORPHA:1120
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Scoliosis, Vertebral segmentation defect, Craniosynostosis ORPHA:531151
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Stroke, Hypertension, Coronary artery stenosis OMIM:615812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Plagiocephaly, Atrial septal defect, Anterior plagiocephaly... OMIM:614749
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Coronal craniosyno... OMIM:235510
De Barsy Syndrome
Prominent veins on trunk, Kyphoscoliosis, Recurrent sinopulmonary infections, Generalized joint l... ORPHA:2962
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... OMIM:306955
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation, Recurrent respiratory infections ORPHA:85288
Hartsfield Syndrome
Respiratory insufficiency, Craniosynostosis ORPHA:2117
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Scoliosis, Talipes valgus, V... OMIM:615879
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Craniosynostosis, Scoliosis, Frontal bossing, Turricephaly OMIM:613174
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Osteoglosphonic Dysplasia
Abnormal bone ossification, Scoliosis, Abnormal form of the vertebral bodies, Craniosynostosis ORPHA:2645
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Arthrogryposis multiplex congenita, Craniosynostosis OMIM:618265
19P13.12 Microdeletion Syndrome
Kyphosis, Atrial septal defect, Craniosynostosis, Mitral regurgitation, Short neck, Scoliosis, Ar... ORPHA:254346
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Dolichocephaly, Scoliosis, Aplasia/Hypoplasia of the lungs, Recurrent ... ORPHA:1548
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Secundum atrial septal defect, Camptodactyly of finger, Scoliosis, Bicoronal synostosis... OMIM:619951
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis ORPHA:1528
Gm1-Gangliosidosis, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Cherry red ... OMIM:230500
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Palpebral edema, Frontal bossing, Recurrent pneumonia, Scaphocephaly ORPHA:397612
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Osteopenia, Platyspondyly, Radioulnar synostosis, Sagittal craniosyn... ORPHA:536471
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Craniosynostosis, Wormian bones, Skull asymmetry, Brachycephaly, Midface ... OMIM:601853
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Multiple pterygia, Dolichocephaly, Aortic aneurysm, Camptodactyly ... ORPHA:2990
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Dolichocephaly, Frontal bossing, Sagittal craniosynostosis,... OMIM:614099
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Asthma, Atrial septal defect, Aortic valve stenosis, Dysplastic p... OMIM:601808
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Wide anterior fontanel, Kyphosis, Decreased calvarial ossification, Biconcav... OMIM:259420
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Antenatal intracerebral hemorrhage, Kyphoscoliosis, Knee dislocation, Subd... ORPHA:536545
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Sacral dimple, Atrial septal defect OMIM:615502
Craniosynostosis 4
Pansynostosis, Coronal craniosynostosis, Metopic synostosis, Sagittal craniosynostosis, Bicoronal... OMIM:600775
Noonan Syndrome 9
Pulmonic stenosis, Short neck, Coarctation of aorta, Ventricular septal defect, Prolonged prothro... OMIM:616559
Crouzon Syndrome
Sleep apnea, Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Abnormality of... OMIM:123500
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity OMIM:616471
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Hyperextensibility of the finger joints, Ventricular s... OMIM:309520
Pycnodysostosis
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Delayed cr... ORPHA:763
Musculocontractural Ehlers-Danlos Syndrome
Kyphoscoliosis, Atlantoaxial dislocation, Subcutaneous hemorrhage, Generalized joint laxity, Cran... ORPHA:2953
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... OMIM:305620
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... OMIM:178600
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Dolichocephaly, Intracrania... ORPHA:109
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema OMIM:608776
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Scoliosis, Coarctation of aorta, Fron... OMIM:301022
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion, Capitate-hamate fusion OMIM:602849
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Platyspondyly, Short neck, Thoracolumbar scoliosis, Skull asymmetry OMIM:616723
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Craniosynostosis, Decreased movement range in interphalangeal j... ORPHA:576
Marshall-Smith Syndrome
Bruising susceptibility, Reduced bone mineral density, Craniosynostosis, Scoliosis, Increased sus... ORPHA:561
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Elevated pulmonary artery pressure, Respiratory failure requiring assis... OMIM:619351
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... ORPHA:2114
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Catel-Manzke Syndrome
Joint dislocation, Short neck, Coarctation of aorta, Camptodactyly, Ventricular septal defect, De... OMIM:616145
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Craniosynostosis, Abnormal aortic valve morphology, Midface retrusion, Scol... ORPHA:261197
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Polyhydramnios, Arthrogryposis multiple... OMIM:618393
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus OMIM:147770
Marshall-Smith Syndrome
Apnea, Airway obstruction, Craniosynostosis, Ventricular septal defect, Midface retrusion, Decrea... OMIM:602535
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Respiratory insufficiency, Platyspondyly, Scolios... ORPHA:2771
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Genu recurvatum, Osteopenia, Delayed cranial suture closure... ORPHA:90348
Aymé-Gripp Syndrome
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Prominent metopic ridge, Scolios... ORPHA:1272
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Respiratory insufficiency, Hydrops fetali... ORPHA:90308
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly, Patent ductus arteriosus ORPHA:2095
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Osteoporosis, Scoliosis OMIM:617190
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Mitral regurgitation, Congenital h... OMIM:300280
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... ORPHA:99125
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Atrial septal defect, Flexion contracture, Coronal craniosynostosis, Camp... OMIM:207410
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Bone cyst, Aortic valve stenosis, Coarctation of aorta, Pulmonary arter... ORPHA:2396
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Fryns Syndrome
Abnormal cardiac septum morphology, Short neck, Tetralogy of Fallot, Polyhydramnios, Abnormal aor... ORPHA:2059
Transaldolase Deficiency
Asthma, Wide anterior fontanel, Atrial septal defect, Short neck, Coarctation of aorta, Ventricul... OMIM:606003
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Pate... OMIM:618027
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Respira... OMIM:601186
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Myofibrillar Myopathy 11
Coarctation of aorta, Reduced forced vital capacity OMIM:619178
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... OMIM:259440
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Vertebral segmentation defect, Bicuspid aortic valve, Atrial septal de... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Vertebral segmentation defect, Bicuspid aortic valve, Atrial septal de... ORPHA:352665
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Short ... ORPHA:251071
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Coarctation of aorta ORPHA:280195
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Distal Monosomy 10Q
Lumbar hyperlordosis, Atrial septal defect, Craniosynostosis, Prominent metopic ridge, Spina bifi... ORPHA:96148
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Metatropic Dysplasia
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... ORPHA:2635
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Arterial stenosis,... ORPHA:228116
Larsen Syndrome
Laryngotracheomalacia, Large joint dislocations, Vertebral segmentation defect, Accessory carpal ... ORPHA:503
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Atrial septal defect, Tracheomalacia, Dolichocephaly, Craniosynostosis, Ao... ORPHA:96121
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Reduced vital capacity, Flexion contracture, Dolichocephaly, Respiratory insufficiency,... ORPHA:178148
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Craniosynostosis OMIM:619076
Acrocraniofacial Dysostosis
Abnormality of the vertebral column, Oxycephaly, Craniosynostosis OMIM:201050
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Shallow acetabular fossae, Scoliosis, Carpal bone hypop... OMIM:252600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Recurrent fractures, Apnea, Bruising susceptibility, Reduced... ORPHA:667
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Restrictive ventil... OMIM:615290
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Short neck, Knee flexion contracture, Limb joint contracture, Ankle flexion con... ORPHA:284417
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hypoplastic aortic arch ORPHA:457284
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Oligohydramnios, Joint hypermobility, Craniosynostosis OMIM:619056
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis OMIM:614732
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Kyphosis, Atrial septal defect, Respiratory insufficienc... ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hip dislocation, Scoliosis OMIM:300434
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Atrial septal defect, Craniosynostosis, Delayed cranial sutu... OMIM:620005
Zimmermann-Laband Syndrome 3
Kyphosis, Patent ductus arteriosus, Flexion contracture OMIM:618658
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Atrial septal defect, Aortic valve stenosis, Camptodactyly, Sagittal craniosynostosi... ORPHA:459061
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... OMIM:115197
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Short neck, Ventricular septal defect, Dextrocardia, Flat occ... OMIM:614294
Meier-Gorlin Syndrome 7
Wide anterior fontanel, Atrial septal defect, Craniosynostosis, Aplasia/Hypoplasia of the patella... OMIM:617063
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Heart murmur, Hip subluxation, Ovoid vertebral bodies, Cardiomegaly... OMIM:252500
Autosomal Recessive Omodysplasia
Craniosynostosis, Frontal bossing, Pterygium, Increased nuchal translucency, Elbow dislocation ORPHA:93329
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Osteomyelitis, Increased bone mineral density, Craniosyn... OMIM:259700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Frontal bossing, Scoliosis ORPHA:276630
Congenital Tracheal Stenosis
Respiratory distress, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Antley-Bixler Syndrome
Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Delayed cranial suture c... ORPHA:83
Choanal Atresia
Respiratory distress, Tracheomalacia, Craniosynostosis, Abnormal nasal mucus secretion, Chronic s... ORPHA:137914
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Hip dislocation, Lumbar hyperlordosis, Scoliosis OMIM:616756
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Camptodactyly of fing... ORPHA:2311
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Calvarial skull defect, Coronal craniosynostosis, Frontal bossing, Oligohydramnios ORPHA:228390
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Short neck, Scoliosis, Ventricular septal defect, Mitral valve prolapse, Ascendi... ORPHA:444072
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Muenke Syndrome
Carpal synostosis, Plagiocephaly, Coronal craniosynostosis, Tarsal synostosis, Brachycephaly ORPHA:53271
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Craniosynostosis OMIM:619873
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:85317
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Wormian bones, Tetralogy of Fallot, Coarctation of aorta, Ventricular septa... OMIM:617159
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones OMIM:618392
Cutis Laxa, Autosomal Recessive, Type Ib
Joint hypermobility, Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tortuosity, Pul... OMIM:614437
3C Syndrome
Abnormality of the fontanelles or cranial sutures, Abnormal mitral valve morphology, Kyphosis, At... ORPHA:7
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Thickened calvaria, Scheuermann-like vertebr... OMIM:301900
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... OMIM:259450
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Central sleep apnea, Craniosynostosis, Restrictive cardiomyopathy, Osteopen... ORPHA:369837
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... ORPHA:508533
Metatropic Dysplasia
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Respirato... OMIM:156530
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Craniosynostosis, Osteopenia, Pulmonary hemorrhage, Mitral regurgitation, C... ORPHA:363611
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Metopic synostosis, Patent ductus arteriosus, Co... OMIM:620024
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Craniosynostosis, Pulmonary lymphangiectasia, Camptodact... ORPHA:2136
Distal Monosomy 15Q
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Sleep apnea, Platyspondyly, Central apnea... OMIM:616482
Fontaine Progeroid Syndrome
Craniosynostosis, Platyspondyly, Pulmonary hypoplasia, Midface retrusion, Abnormal heart morpholo... OMIM:612289
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Pedal edema, Reduced... ORPHA:75565
Kleefstra Syndrome 2
Kyphosis, Plagiocephaly, Midface retrusion, Scoliosis OMIM:617768
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Stroke... ORPHA:75249
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Pulmonary hypoplasia, Humeroradial synostosis, Oligohydramnios OMIM:251230
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tracheomalacia, Tachycardia, Tetr... OMIM:618280
Shprintzen-Goldberg Syndrome
Joint stiffness, Apnea, Craniosynostosis, Dolichocephaly, Osteopenia, Camptodactyly of finger, Mi... ORPHA:2462
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... OMIM:618775
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
3Q29 Microduplication Syndrome
Craniosynostosis, Camptodactyly of toe, Short neck, Ventricular septal defect, Large fontanelles,... ORPHA:251038
Cranioectodermal Dysplasia 4
Frontal bossing, Sagittal craniosynostosis, Recurrent pneumonia, Joint hypermobility, Decreased n... OMIM:614378
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... OMIM:192430
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... ORPHA:75840
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Flexion contracture, Pulmonary artery stenos... OMIM:208050
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Left ventricular hypertrophy, Prolonged QTc interval, In... OMIM:619040
Pediatric-Onset Graves Disease
Sinus tachycardia, Craniosynostosis, Neonatal asphyxia, Palpitations, Small anterior fontanelle, ... ORPHA:525731
Pelizaeus-Merzbacher Disease
Kyphosis, Joint stiffness, Arteriovenous malformation, Respiratory insufficiency, Scoliosis, Recu... ORPHA:702
22Q11.2 Deletion Syndrome
Tricuspid atresia, Short neck, Ventricular septal defect, Gastrointestinal hemorrhage, Patellar d... ORPHA:567
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Scoliosis, Frontal bossing, Patent ductus arteriosus, Interru... ORPHA:250989
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Beaking of vertebral bodies, Atrial septal defect, Craniosynostosis, Hyperextensib... OMIM:213980
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Hypophosphatemic rickets, Kyphoscoliosis, Osteopenia, Coarctation of aorta, ... OMIM:163200
Rhizomelic Syndrome, Urbach Type
Kyphosis, Wide anterior fontanel, Pulmonic stenosis, Short neck, Abnormal form of the vertebral b... ORPHA:3098
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion ORPHA:36412
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Fractures of the long bones, Epidural hemorrhage, Abn... ORPHA:464329
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Bicuspid aortic valve, Dolichocephaly, Short neck, Biconcave v... OMIM:130720
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Airway obstruction, Platyspondyly, Genu valgum, Abnormality of the curvature of the vertebral col... ORPHA:93360
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Limitation of joint mobility, Craniosynostosis ORPHA:178303
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Pericardial effusion, Edema OMIM:617822
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Tracheomalacia, Craniosynostosis, Abnormality of the vertebral column, Scoliosis, Respiratory fai... ORPHA:412069
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis ORPHA:163976
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Atrial septal defect, Scoliosis, Arrhythmia, Tracheobronchomalacia, Patent foram... OMIM:619184
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Joint subluxation, Bruising susceptibility, Hyperextensibility of the finger joints, Sc... OMIM:617821
Alport Syndrome
Renal glomerular foam cells, Cough, Recurrent bronchitis, Aortic aneurysm, Dyspnea, Hypertension,... ORPHA:63
3Mc Syndrome
Limited pronation/supination of forearm, Craniosynostosis, Scoliosis, Spina bifida occulta, Radio... ORPHA:293843
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Mucolipidosis Iii Gamma
Joint stiffness, Kyphosis, Aortic valve stenosis, Short neck, Scoliosis, Hyperlordosis, Genu valg... OMIM:252605
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Increased nuchal translucency, Atrioventricular canal defe... OMIM:605275
Saethre-Chotzen Syndrome
Sleep apnea, Plagiocephaly, Craniosynostosis, Proximal radio-ulnar synostosis, Delayed cranial su... ORPHA:794
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Osteoporo... OMIM:253000
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia, Craniosynostosis ORPHA:2203
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita, Respiratory failure, Respira... OMIM:611890
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Renal artery atherosclerosis, Abnormal cardiomyocyte morphology, Palpitations, A... ORPHA:565612
Corpus Callosum Agenesis-Neuronopathy Syndrome
Turricephaly, Craniosynostosis ORPHA:1496
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis ORPHA:163971
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Bicuspid aortic valve, Joint dislocation, Atrial septal defect, Spondylolisthesis, Trac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Bicuspid aortic valve, Joint dislocation, Atrial septal defect, Spondylolisthesis, Trac... ORPHA:363958
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Edema, Pericarditis, Ascites, Intrauterine growth retardation, Peri... OMIM:619487
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hyperextensibility of the finger joints, Intracranial hemorrhage, Respirato... ORPHA:163979
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta, Tachypnea, Patent ductus arteriosus, Pulmonary arteri... OMIM:614857
O'Donnell-Luria-Rodan Syndrome
Dolichocephaly, Kyphosis OMIM:618512
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis OMIM:616943
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... ORPHA:536516
Cranioectodermal Dysplasia 2
Plagiocephaly, Atrial septal defect, Craniosynostosis, Dolichocephaly, Left ventricular hypertrop... OMIM:613610
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion