Gene Summary

Name:
transforming growth factor, beta receptor II
Synonyms:
TbetaR-II,  TbetaRII,  1110020H15Rik,  TBR-II

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00
small liver Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00
preweaning lethality, complete penetrance Tgfbr2em1(IMPC)Rbrc HOM   Early adult 0.00
abnormal liver morphology Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00
abnormal kidney morphology Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00
enlarged kidney Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00
abnormal heart morphology Tgfbr2em1(IMPC)Rbrc HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Tgfbr2 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 Tgfbr2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tgfbr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Exertional d... ORPHA:229
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Aortic Aneurysm, Familial Thoracic 4
Middle cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebr... OMIM:132900
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Asthma, Thoracolumbar kyphoscoliosis, Aortic dissection... OMIM:130090
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Scoliosis, Exertional dyspnea, Patent ductus arteriosus, Abnormal left ventricular function, Card... ORPHA:91387
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Aortic regurgitation, Kyphosis, Pulmonic stenosis, Aortic root... OMIM:609008
Igg4-Related Aortitis
Abnormal aortic arch morphology, Low back pain, Thoracic aortic aneurysm, Abnormal common carotid... ORPHA:449400
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Abnormal bleeding, Palpitations, Dyspnea,... ORPHA:2038
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Aortic Aneurysm, Familial Thoracic 10
Scoliosis, Coronary artery atherosclerosis, Aortic root aneurysm, Bicuspid aortic valve, Mitral r... OMIM:617168
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Cap Myopathy
Sinus tachycardia, Central hypoventilation, Reduced systolic function, Lumbar hyperlordosis, Aort... ORPHA:171881
Ethanolaminosis
Cardiomegaly OMIM:227150
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Dilatation of the sinus of Valsalva, Heart murmur, Congesti... ORPHA:1054
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Loeys-Dietz Syndrome 4
Scoliosis, Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Emphysema, Spondylolist... OMIM:614816
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Scoliosis, Atrial septal defect, Ventricular septal defect, Aortic root aneurysm, Mitral regurgit... OMIM:301039
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Periventricular Nodular Heterotopia
Scoliosis, Abnormal bleeding, Aortic regurgitation, Abnormal heart valve morphology, Patent ductu... ORPHA:98892
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Aneurysm, Intracranial Berry, 12
Arterial fibromuscular dysplasia, Internal carotid artery dissection, Subarachnoid hemorrhage, Ce... OMIM:618734
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Patent ductus... ORPHA:99050
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Bilateral lung agenesis, C... OMIM:601612
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Abnormal pattern of respiration... ORPHA:3287
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous ... OMIM:187300
Contractural Arachnodactyly, Congenital
Scoliosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root... OMIM:121050
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,... ORPHA:404443
Arterial Tortuosity Syndrome
Scoliosis, Abnormal carotid artery morphology, Cardiac arrest, Pulmonary artery stenosis, Aortic ... ORPHA:3342
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Emphysema, Aortic a... ORPHA:363618
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse, Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, H... OMIM:175050
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Dyspnea, Bulbous nose, Aortic regurgitation, Abnormal heart valve morpholog... ORPHA:230851
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Meester-Loeys Syndrome
Cervical spine instability, Pulmonary artery aneurysm, Dilatation of the cerebral artery, Aortic ... OMIM:300989
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Abnormal heart morphology, Vascular dilatation, Aortic dissection, Varicose veins, Bruising susce... OMIM:618343
Marfanoid Hypermobility Syndrome
Scoliosis, Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Giant Cell Arteritis
Recurrent pharyngitis, Arrhythmia, Pericarditis, Abnormal pleura morphology, Cough, Epistaxis, Su... ORPHA:397
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Combined cystic and ground-glass pattern on pulmonary HRCT, Mitral valve... OMIM:130050
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent sinusitis, Aortic root aneurysm, Hemoptysis, Mitral valve prolapse, Bruising susceptibi... OMIM:130000
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona... ORPHA:3093
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Scoliosis, Mitral valve prolapse, Hypertension, Aortic root aneurysm ORPHA:449291
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Restrictive ventilatory defect, Thoracic kyphoscoliosis, Mitral valve prolapse... ORPHA:1900
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Tetralogy of Fallot, Hypoplasia of th... ORPHA:93315
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Scoliosis, Arterial tortuosity, Atrial septal defect, Patent ... OMIM:609192
Marfanoid-Progeroid-Lipodystrophy Syndrome
Oligohydramnios, Kyphosis, Bruising susceptibility, Hypertension, Aortic root aneurysm, Mitral va... OMIM:616914
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Ovoid vertebral bodies, Respiratory insufficiency, Thoracic aortic aneurysm, Repeated ... ORPHA:536467
Loeys-Dietz Syndrome 2
Scoliosis, Generalized arterial tortuosity, Patent ductus arteriosus, Dilatation of mesenteric ar... OMIM:610168
Immunodeficiency 23
Scoliosis, Allergic rhinitis, Bronchiectasis, Vasculitis in the skin, Asthma, Aortic root aneurys... OMIM:615816
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Pericardial effusion, Kyphosis, Sacral dimple, Carotid artery stenosis,... ORPHA:536532
Loeys-Dietz Syndrome
Scoliosis, Abnormal bleeding, Arterial tortuosity, Patent ductus arteriosus, Vascular dilatation,... ORPHA:60030
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Emphysema, Aortic aneurysm ORPHA:90348
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hypertension, Thoracic... OMIM:613834
Gm1-Gangliosidosis, Type Iii
Foam cells, Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae OMIM:230650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Zimmermann-Laband Syndrome 1
Scoliosis, Patent ductus arteriosus, Wide nasal bridge, Spina bifida occulta, Aortic root aneurys... OMIM:135500
Loeys-Dietz Syndrome 5
Atrial septal defect, Ventricular septal defect, Bruising susceptibility, Cervical spine instabil... OMIM:615582
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Pulmonary edema, Respiratory distre... ORPHA:90068
X Small Rings
Oligohydramnios, Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aorti... ORPHA:96201
Loeys-Dietz Syndrome 3
Scoliosis, Ventricular hypertrophy, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitral va... OMIM:613795
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Panc... ORPHA:730
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Oligohydramnios, Ventricular septal defect, Lymphedema, At... OMIM:601927
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Arterial tortuosity, Intervertebral disc degeneration, Aortic regurgitation, Abnormal ... ORPHA:284984
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Koolen-De Vries Syndrome
Scoliosis, Pear-shaped nose, Atrial septal defect, Bulbous nose, Ventricular septal defect, Kypho... OMIM:610443
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Neonatal Marfan Syndrome
Abnormal echocardiogram, Emphysema, Mitral regurgitation, Tricuspid regurgitation, Wide nasal bri... ORPHA:284979
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Kyphosis, Mitral regurgitation, Vascular ring, T... OMIM:603387
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Phaver Syndrome
Abnormal form of the vertebral bodies, Ventricular septal defect, Hypoplastic aortic arch, Depres... ORPHA:2876
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Abnormality of ... ORPHA:1166
Sandhoff Disease
Kyphosis, Congestive heart failure, Cherry red spot of the macula, Recurrent respiratory infections ORPHA:796
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Sinusitis ORPHA:908
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Marfan Syndrome
Scoliosis, Spontaneous pneumothorax, Aortic tortuosity, Mitral valve calcification, Descending ao... ORPHA:558
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Congenital Contractural Arachnodactyly
Scoliosis, Aortic aneurysm, Congenital kyphoscoliosis, Mitral valve prolapse, Tracheoesophageal f... ORPHA:115
Marfan Syndrome
Scoliosis, Aortic regurgitation, Aortic dissection, Emphysema, Spondylolisthesis, Tricuspid regur... OMIM:154700
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Bicuspid aortic val... OMIM:613426
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Abnormal respiratory system physiology, Biventricular hype... ORPHA:101028
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Partial Atrioventricular Septal Defect
Exertional dyspnea, Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double ... ORPHA:1330
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness OMIM:617087
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Platyspondyly, Atrial septal defect, Aortic root aneurysm, Cardiomegaly, Left ventricu... OMIM:245600
Opitz Gbbb Syndrome
Atrial septal defect, Anteverted nares, Ventricular septal defect, Abnormal heart morphology, Pat... ORPHA:2745
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior... ORPHA:185
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Cutis Laxa, Autosomal Recessive, Type Ia
Oligohydramnios, Emphysema, Supravalvular aortic stenosis, Vascular tortuosity, Ascending tubular... OMIM:219100
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated hepatic transaminase, Enlarged kidney, Macrovesicular ... OMIM:608836
22Q11.2 Duplication Syndrome
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Abnormality of the pharynx, Hypopl... ORPHA:1727
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigi... OMIM:300718
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Narrow nose, Atrial septal defect, Aortic root aneurysm OMIM:618891
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Methimazole Embryofetopathy
Polyhydramnios, Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Coarctati... ORPHA:1923
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... OMIM:617713
Alkaptonuria
Intervertebral disc degeneration, Mitral valve calcification, Low back pain, Kyphosis, Vertebral ... OMIM:203500
Rin2 Syndrome
Scoliosis, Bruising susceptibility, Aortic aneurysm, Upper eyelid edema ORPHA:217335
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Pericardial effusion, Cardiomegaly, Pul... ORPHA:51608
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Short neck, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Cockayne Syndrome Type 3
Scoliosis, Premature coronary artery atherosclerosis, Kyphosis, Subdural hemorrhage, Increased bl... ORPHA:90324
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Short nose, Abnormal vertebral morphology, Ventricular septal defect, Abnormal heart... ORPHA:444077
Holt-Oram Syndrome
Scoliosis, Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Pa... ORPHA:392
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Peau d'orange, Gastrointestinal hemorrhage, Medial calcification of medium-sized arter... OMIM:177850
Osteogenesis Imperfecta
Scoliosis, Aortic regurgitation, Abnormal form of the vertebral bodies, Abnormal endocardium morp... ORPHA:666
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Short nose, Peripheral pulmonary artery stenosis, Patent ductus arteriosus,... ORPHA:280633
Osteogenesis Imperfecta, Type I
Mitral valve prolapse, Biconcave flattened vertebrae, Bruising susceptibility, Aortic aneurysm OMIM:166200
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Neonatal respiratory dist... OMIM:618164
Classical Ehlers-Danlos Syndrome
Scoliosis, Arteriovenous fistula, Prolonged bleeding time, Joint swelling, Orthostatic hypotensio... ORPHA:287
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial... OMIM:178600
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Pericardial Effusion, Chronic
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis OMIM:260900
Non-Specific Syndromic Intellectual Disability
Scoliosis, Kyphosis, Wide nasal bridge, Aortic root aneurysm, Pulmonary artery dilatation, Depres... ORPHA:528084
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Oligohydramnios, Respiratory failure requiring assisted venti... OMIM:619351
Weill-Marchesani Syndrome 2
Scoliosis, Ventricular septal defect, Patent ductus arteriosus, Lumbar hyperlordosis, Pulmonic st... OMIM:608328
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Sleep apnea, Exertional dyspnea, Respiratory insufficiency, Left ventricular outflow t... ORPHA:365
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Bulbous nose, Oligohydramnios, Hematochezia, Hypoplastic aortic arch, Sacra... ORPHA:261311
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pedal edema, Pulmonary artery aneurysm, Pulmonary embol... ORPHA:228116
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Macrovesi... OMIM:617303
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morphology, Patent... ORPHA:1120
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta, Short neck, Prolonged prothro... OMIM:616559
Lymphatic Malformation 7
Atrial septal defect, Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema... OMIM:617300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Congenital Tracheal Stenosis
Polyhydramnios, Wheezing, Anomalous origin of left pulmonary artery from ascending aorta, Patent ... ORPHA:141127
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
Epidermal Nevus Syndrome
Spinal canal stenosis, Thoracolumbar scoliosis, Aortic aneurysm ORPHA:35125
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614300
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Abno... ORPHA:90308
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Carotid artery stenosis, Bicuspid aortic val... OMIM:602531
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Sacral dimple, Coarctation of aorta OMIM:615502
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Vesi... OMIM:130650
Temtamy Syndrome
Aortic aneurysm, Aortic regurgitation OMIM:218340
Distal Tetrasomy 15Q
Scoliosis, Atrial septal defect, Abnormal heart morphology, Kyphosis, Patent ductus arteriosus, H... ORPHA:314588
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Long nose, Ascending tub... OMIM:309520
Myofibrillar Myopathy 11
Reduced forced vital capacity, Coarctation of aorta OMIM:619178
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Coarctation of aorta ORPHA:280195
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism, Purpura ORPHA:745
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Fryns Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Abnormal aortic morphology, Wide nasal bridge, A... ORPHA:2059
Chromosome 18Q Deletion Syndrome
Scoliosis, Atrial septal defect, Short neck, Ventricular septal defect, Patent ductus arteriosus,... OMIM:601808
Familial Multiple Nevi Flammei
Scoliosis, Arrhythmia, Intracranial hemorrhage, Pulmonary embolism, Edema, Arteriovenous malforma... ORPHA:624
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Heart And Brain Malformation Syndrome
Polyhydramnios, Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, Anteverted... OMIM:616920
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomegaly OMIM:255120
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Sleep apnea, Respiratory insufficiency, Peripheral arteriovenous fistula, ... ORPHA:286
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia OMIM:618453
Mullegama-Klein-Martinez Syndrome
Scoliosis, Bulbous nose, Wide nasal bridge, Prominent nose, Hypoplastic left heart, Coarctation o... OMIM:301022
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Atrial septal defect, Lymphedema, Coarctation of aorta, Kyphosis, Arterial dissection,... ORPHA:99413
Mosaic Monosomy X
Scoliosis, Atrial septal defect, Lymphedema, Coarctation of aorta, Kyphosis, Arterial dissection,... ORPHA:99228
Monosomy X
Scoliosis, Atrial septal defect, Lymphedema, Coarctation of aorta, Kyphosis, Arterial dissection,... ORPHA:99226
Turner Syndrome
Scoliosis, Atrial septal defect, Lymphedema, Coarctation of aorta, Kyphosis, Arterial dissection,... ORPHA:881
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated hepatic transaminase ORPHA:858
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism, Subcutaneous hemorrhage, Purpura ORPHA:743
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Thanatophoric Dysplasia
Polyhydramnios, Platyspondyly, Atrial septal defect, Kyphosis, Patent ductus arteriosus, Respirat... ORPHA:2655
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Cholestasis, Renal tubular acidosis, Pulmonic ... OMIM:610205
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly OMIM:269920
Larsen Syndrome
Scoliosis, Atrial septal defect, Hypoplastic cervical vertebrae, Ventricular septal defect, Beaki... OMIM:150250
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arter... OMIM:265380
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Atrial septal defect, Coarctation of aorta OMIM:614857
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal spleen mo... ORPHA:464329
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Pulmonary... ORPHA:1600
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Atherosclerosis ORPHA:2047
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Recurrent respiratory infections, Depressed nasal bridge ORPHA:85288
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:600987
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Recurrent upper respirat... OMIM:253010
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Thanatophoric Dysplasia Type 2
Polyhydramnios, Platyspondyly, Atrial septal defect, Kyphosis, Patent ductus arteriosus, Respirat... ORPHA:93274
Zimmermann-Laband Syndrome 3
Kyphosis, Patent ductus arteriosus, Wide nasal bridge, Broad nasal tip OMIM:618658
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, S... OMIM:235200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Dica... OMIM:201475
Cerebellar-Facial-Dental Syndrome
Scoliosis, Short neck, Ventricular septal defect, Laryngeal stridor, Wide nasal bridge, Laryngoma... ORPHA:444072
Gm1-Gangliosidosis, Type I
Scoliosis, Hydrops fetalis, Abnormal heart valve morphology, Beaking of vertebral bodies, Kyphosi... OMIM:230500
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Splenomegaly, Incre... OMIM:256550
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Respiratory insufficiency, Wide nasal bridge, Thoracolumbar scoliosis, R... OMIM:313420
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Spinal arteriovenous malformation, Congestive heart failure,... ORPHA:53721
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Overriding aorta, Short neck OMIM:616145
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Bulbous nose, Oligohydramnios, Pulmonary insufficiency, Generalized arterial... OMIM:614437
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Scoliosis, Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Abnormal h... ORPHA:453499
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Renal artery atherosclerosis, Coronary artery stenosis, Dyspnea, Angina... ORPHA:565612
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... OMIM:106700
Transaldolase Deficiency
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Asthm... OMIM:606003
Sickle Cell Anemia
Hematuria, Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Atrial septal defect, Broad nasal tip OMIM:617190
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Proteinuria, Urinary glycosamin... ORPHA:505248
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Cantu Syndrome
Platyspondyly, Lymphedema, Pericardial effusion, Ovoid vertebral bodies, Patent ductus arteriosus... OMIM:239850
Perlman Syndrome
Polyhydramnios, Interrupted aortic arch, Wide nasal bridge, Edema, Ascites, Depressed nasal bridge OMIM:267000
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Bannayan-Riley-Ruvalcaba Syndrome
Scoliosis, Short nose, Intracranial hemorrhage, Angina pectoris, Telangiectasia, Lymphedema, Arte... ORPHA:109
Chromosome 1P36 Deletion Syndrome
Scoliosis, Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Ventricula... OMIM:607872
Kyphoscoliotic Ehlers-Danlos Syndrome
Scoliosis, Atlantoaxial instability, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Abn... ORPHA:536545
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction OMIM:253250
Alport Syndrome
Recurrent bronchitis, Dyspnea, Abnormal aortic morphology, Cough, Hypertension, Stridor, Aortic a... ORPHA:63
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Coarctation of aorta, Lon... OMIM:617602
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Noonan Syndrome 10
Scoliosis, Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arter... OMIM:616564
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Hepatic steatosis, Renal tubular epithelial necrosis, My... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Depressed nasal bridge OMIM:300434
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Patent ductus arteriosus, Aortic rupture, Kyphoscoliosis, Bruising susc... OMIM:614557
Kawasaki Disease
Recurrent pharyngitis, Arrhythmia, Pericarditis, Abnormal heart valve morphology, Abnormal pulmon... ORPHA:2331
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:2962
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Abnormal aortic valve morphology, Neonatal respiratory distress, Pulmonary hypoplasia,... ORPHA:2990
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis, Respiratory insufficiency, Arteriovenous malformation, Recurrent respiratory... ORPHA:702
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic tortuosity, Ischemic stroke, Aortic regurgitation, Generalized ar... OMIM:208050
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dyspnea, Kyphosis, Respiratory insufficiency, Spinal rigidity, Spinal deformities, Di... OMIM:615084
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Pneumonia, Unroofed coronary sinus, Right atrial enlargement, Anomalous origi... ORPHA:99104
3C Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve mor... ORPHA:7
Buschke-Ollendorff Syndrome
Lymphedema, Abnormal aortic morphology, Hypertension ORPHA:1306
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Anomalous pulmonary venous return, Anteverted nares, Abnormal form of the vertebral bo... ORPHA:2311
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Respiratory distress, Interrupted aortic arch,... ORPHA:2255
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Kyphosis, Short neck OMIM:618393
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventricular septal defect, Patent ductus arteriosus, Coarctation o... OMIM:300514
Bethlem Myopathy 2
Kyphosis OMIM:616471
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Respiratory insufficiency, Caudal... OMIM:156530
Distal Monosomy 15Q
Broad nasal tip, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Wide nose ORPHA:276630
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Underdeveloped nasal alae, Interrupted aortic arch, Ventricular septal defe... ORPHA:163979
H Syndrome
Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Scoliosis, Anteverted nares, Hypoplastic aortic arch ORPHA:457284
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory failure, Short... OMIM:611890
22Q11.2 Deletion Syndrome
Scoliosis, Polyhydramnios, Bulbous nose, Patent ductus arteriosus, Choanal atresia, Corneal neova... ORPHA:567
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... OMIM:300712
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
1Q21.1 Microdeletion Syndrome
Scoliosis, Bulbous nose, Interrupted aortic arch, Patent ductus arteriosus, Wide nasal bridge, Ab... ORPHA:250989
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Su... ORPHA:391665
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion, Hypertension, Vascular ... OMIM:108050
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Respiratory insufficiency, Short neck, Prominent nasal bridge, Reduced vital... ORPHA:178148
Thanatophoric Dysplasia Type 1
Polyhydramnios, Platyspondyly, Atrial septal defect, Kyphosis, Patent ductus arteriosus, Respirat... ORPHA:1860
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tr... ORPHA:2414
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Arrhythmia, Membranous subvalvular aortic stenosis, Ky... ORPHA:3191
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Aplas... ORPHA:2635
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis, Atrial septal defect, Truncus arteriosus, Underdeveloped nasal alae, Ventricular s... ORPHA:261330
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Emanuel Syndrome
Scoliosis, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Kyphosis, Patent ... OMIM:609029
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Ventricular septal defect, Enlarged kidney, Abnormal right ventr... ORPHA:500095
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Small vessel vasculitis, Dyspnea, Abnormal heart valve morphology... ORPHA:36412
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Kyphosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes OMIM:301900
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, C1-C2 vertebral abnormality, Obstructive sleep apnea, Mitral valve prolapse, Anteverte... OMIM:182212
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Hypertens... ORPHA:371428
Tangier Disease
Left ventricular hypertrophy, Carotid artery stenosis, Accelerated atherosclerosis, Coronary arte... ORPHA:31150
Seckel Syndrome 10
Hypertension, Ventricular hypertrophy, Congestive heart failure, Abdominal aortic aneurysm OMIM:617253
Congenital Disorder Of Glycosylation, Type Il
Short nose, Pericardial effusion, Kyphosis, Edema, Ascites, Abnormal cardiac septum morphology, S... OMIM:608776
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity,... ORPHA:352447
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Bruising susceptibility OMIM:130060
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Wide nasal bridge, Aortic valve stenosis, Spina bifida occulta, Coarcta... ORPHA:2780
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Atrial septal defect, Abnormal heart morphology, Kyphosis, Wide nasal bridge, Antevert... ORPHA:352490
Noonan Syndrome 2
Polyhydramnios, Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect,... OMIM:605275
Acute Interstitial Pneumonia
Bronchiectasis, Pericardial effusion, Reticulonodular pattern on pulmonary HRCT, Ground-glass opa... ORPHA:79126
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Abnormal left ventricular fun... OMIM:607155
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Prominent nose, Anteverted nar... OMIM:234250
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Aortic regurgitation, Kyphosis, Aortic valve stenosis, Short neck OMIM:252605
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Oculoectodermal Syndrome
Atrial septal defect, Lymphedema, Patent ductus arteriosus, Wide nasal bridge, Depressed nasal br... OMIM:600268
Sialidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Wide nasal bridge, Cherry red spot of... ORPHA:812
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Ventricular hypertrophy, Kyphosis, Prominent nose, Mitral regurgitation, Cardiomyopath... OMIM:300280
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Atrial septal defect, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Pulmonic sten... OMIM:618223
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis, Short nose ORPHA:2429
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Short nose ORPHA:2598
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Double outlet right vent... ORPHA:2209
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Hyperventilation, Persistent left superior vena ... OMIM:618775
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Platyspondyly, Restrictive ventilatory defect, Atrial septal defect, Short nose, Abnor... ORPHA:536471
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis, Hy... ORPHA:508
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Sacral dimple, Hemiver... ORPHA:96121
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Ck Syndrome
Scoliosis, Hyperlordosis, Prominent nasal bridge, Kyphosis OMIM:300831
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Hurler-Scheie Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, Tracheal stenosis, Pulmonary arterial hypertension, Mi... OMIM:607015
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Bulbous nose, Kyphosis, Sacral dimple, Wide nasal bridge, Anteverted na... OMIM:615761
Trisomy 13
Scoliosis, Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Kyphosis, Patent duc... ORPHA:3378
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Polyhydramnios, Restrictive ventilatory defect, Atrial septal defect, Ventricular sept... ORPHA:96334
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Tracheomalacia, Laryngomalacia, Short neck... ORPHA:1001
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Abnormal respiratory system physiology ORPHA:505652
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Angina pectoris, Aortic a... ORPHA:412
Charge Syndrome
Scoliosis, Polyhydramnios, Interrupted aortic arch, Abnormal aortic valve morphology, Patent duct... ORPHA:138
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Anteverted nares, Prominent nasal bridge OMIM:618443
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis, Prominent nasal bridge, Broad nasal tip OMIM:618050
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left heart, Mitral stenosis, Coa... OMIM:617260
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Pear-shaped nose, Bulbous nose, Underdeveloped nasal alae, Intraventricular hemorrhage... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Pear-shaped nose, Bulbous nose, Underdeveloped nasal alae, Intraventricular hemorrhage... ORPHA:363958
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Tracheomalacia, Bifid thoracic vertebrae, Coarctation... ORPHA:268249
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Patent ductus arter... OMIM:618454
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Short nose OMIM:617061
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, Depre... OMIM:618929
Alstrom Syndrome
Scoliosis, Kyphosis, Atherosclerosis, Hypertension, Congestive heart failure, Asthma, Recurrent p... OMIM:203800
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Hydrops fetalis, Ventricular septal defect, Abnormal hea... ORPHA:354
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Mosaic Trisomy 16
Atrial septal defect, Abnormal lung morphology, Ventricular septal defect, Abnormal heart morphol... ORPHA:1708
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Coarctation of aorta OMIM:163200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress, Interrupted aortic arch, Patent ductus arteriosus, Coarctation of ao... ORPHA:17
Classic Homocystinuria
Scoliosis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Kyphosis, Hypertension, Pulmonar... ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Prominent nasal bridge OMIM:300676
Sialidosis Type 2
Hydrops fetalis, Dyspnea, Kyphosis, Pedal edema, Ascites ORPHA:87876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Vertebral fusion OMIM:606612
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Ischemic stroke, Cerebral arteriovenous malformation, Lip t... OMIM:610655
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect OMIM:617159
Pagod Syndrome
Arrhythmia, Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Sudd... ORPHA:991
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Abnormal lung lobation, Bifid epiglottis, Short nose, Ventric... OMIM:146510
Aicardi-Goutières Syndrome
Scoliosis, Moyamoya phenomenon, Calcification of the aorta, Cardiomegaly, Aortic aneurysm, Raynau... ORPHA:51
Esophageal Atresia
Scoliosis, Polyhydramnios, Restrictive ventilatory defect, Episodic respiratory distress, Chronic... ORPHA:1199
Crisponi Syndrome
Scoliosis, Kyphosis, Respiratory insufficiency, Sudden cardiac death, Anteverted nares, Wide nose ORPHA:1545
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Scoliosis, Atrial septal defect, Broad nasal tip, Underdeveloped nasal alae, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Scoliosis, Atrial septal defect, Broad nasal tip, Underdeveloped nasal alae, Ventricular septal d... ORPHA:352665
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Ventricular septal defect, Polysplenia, Hepatomegaly, Pancreatic islet-cell hype... OMIM:312870
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck, Underdeveloped nasal alae, Wide nasal bridge OMIM:616455
Fontaine Progeroid Syndrome
Scoliosis, Platyspondyly, Atrial septal defect, Short nose, Oligohydramnios, Abnormal heart morph... OMIM:612289
Tuberous Sclerosis Complex
Respiratory tract infection, Cardiac rhabdomyoma, Respiratory distress, Internal hemorrhage, Hype... ORPHA:805
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck ORPHA:75840
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Restrictive ventilatory defect OMIM:618484
Myofibrillar Myopathy 10
Kyphosis, Increased QRS voltage, Left ventricular hypertrophy, Prolonged QTc interval OMIM:619040
1P36 Deletion Syndrome
Scoliosis, Abnormal heart valve morphology, Kyphosis, Patent ductus arteriosus, Wide nasal bridge... ORPHA:1606
Lateral Meningocele Syndrome
Scoliosis, Biconcave vertebral bodies, Short nasal bridge, Kyphosis, Patent ductus arteriosus, Ve... OMIM:130720
Restrictive Dermopathy
Polyhydramnios, Atrial septal defect, Thoracic kyphoscoliosis, Patent ductus arteriosus, Choanal ... ORPHA:1662
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Sleep apnea, Kyphosis, Central apnea, Lumbar hyperlordosis, Congestive heart failu... OMIM:616482
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Wide nasal bridge, Mitral st... ORPHA:2008
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Atrial septal defect, Sleep apnea, Bulbous nose, Short nose, Ventricular ... OMIM:614114
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Williams Syndrome
Scoliosis, Abnormal carotid artery morphology, Abnormal endocardium morphology, Mitral regurgitat... ORPHA:904
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Aortic regurgitation, Aortic valve stenosis, Tetralogy of Fallot, Coarctation of aort... ORPHA:96147
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Mcdonough Syndrome
Scoliosis, Kyphosis, Underdeveloped nasal alae, Prominent nose ORPHA:2471
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Kleefstra Syndrome
Scoliosis, Arrhythmia, Dyspnea, Short nose, Ventricular septal defect, Tracheomalacia, Bicuspid a... ORPHA:261494
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:98863
Frank-Ter Haar Syndrome
Scoliosis, Beaking of vertebral bodies, Kyphosis, Wide nasal bridge, Mitral valve prolapse, Depre... ORPHA:137834
Mosaic Trisomy 1
Polyhydramnios, Ventricular septal defect, Wide nasal bridge, Increased nuchal translucency, Pulm... ORPHA:1692
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Blau Syndrome
Dyspnea, Pericarditis, Joint swelling, Large vessel vasculitis, Hypertension, Xerostomia, Pulmona... ORPHA:90340
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Hypoplastic right heart, Short nose, Ventricular septal defect, Kyphosis, Patent ductu... OMIM:616894
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Recurrent upper respirat... OMIM:253000
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:98853
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Le... ORPHA:308552
Digeorge Syndrome
Scoliosis, Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic ... OMIM:188400
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Obstructive sleep apnea, Cardiac conduction abnormality, Abnormal heart mor... ORPHA:353281
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis OMIM:255200
Hsd10 Disease, Infantile Type
Abnormality of the lower urinary tract, Abnormal concentration of acylcarnitine in the urine, Car... ORPHA:391428
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Increased nuchal translucency, Kyphosis, Underdeveloped nasal alae, Wide nasal bridge ORPHA:77300
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Blomstrand Lethal Chondrodysplasia