Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fibulin 5
Synonyms:
EVEC

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 Fbln5 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 Fbln5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fbln5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology, Cutis laxa OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin, Abnormal heart valve morphology ORPHA:171719
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Skin ulcer, Chro... OMIM:604571
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficie... ORPHA:1164
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Coronary Arterial Fistula
Tachypnea, Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Abnormal left ventricula... ORPHA:2041
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Redundant skin, Aortic regurgitation OMIM:123700
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm, Portal hypertension OMIM:210050
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis, Redundant skin, Cutis laxa ORPHA:91135
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature graying of hair, Aortic valve stenosis, Congestive heart failure, Absent eye... ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Vascular tortuosity, Supravalvular aortic stenosis, Recurrent respiratory infections, ... OMIM:219100
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Left-to-right shunt, Bundle branch block, Increased pulmonary vascular ... ORPHA:99104
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Right atrial enlargement, Tachypnea, Right bundle branch ... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Sudden cardiac death, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Right ... OMIM:610476
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Abnormal left ventricular functio... ORPHA:229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... OMIM:253700
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Congestive heart failure, Supravalvular aortic stenosis, Peripher... ORPHA:90349
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614069
Loeys-Dietz Syndrome 4
Emphysema, Hyperextensible skin, Aortic root aneurysm, Striae distensae, Aortic dissection, Pneum... OMIM:614816
Aorto-Ventricular Tunnel
Aortic root aneurysm, Congestive heart failure, Abnormal coronary artery morphology, Heart murmur... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Netherton Syndrome
Emphysema, Abnormal hair morphology, Asthma, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Rec... ORPHA:634
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary ateri... OMIM:178600
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Redundant skin, Congestive heart failure OMIM:301021
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis, Cutis laxa, Epistaxis OMIM:610842
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Hypoxemia, Patent ductus arteriosus, Congestive heart failure, A... ORPHA:860
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Intermittent claudicat... OMIM:264800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Congenital, generalized hypertrichosis, Hypertrichosis, Mitral regur... ORPHA:363705
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Bronch... OMIM:619705
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Atelectasis, Hypertension, Right ventricula... OMIM:268500
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Aplasia/Hypoplasia of the nail... OMIM:106700
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary insufficiency, Bulbous nose, Generalized arterial tortuosity, Pulmonary arte... OMIM:614437
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Arterial Tortuosity Syndrome
Aortic regurgitation, Soft, doughy skin, Generalized arterial tortuosity, Telangiectases of the c... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Patent foramen ovale, Wide nasal bridge, Cutis laxa, Pulmonary artery ... OMIM:613177
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Pleural effusion, Cough, Dyspnea, ... ORPHA:36412
Immunodeficiency 49
Hirsutism, Cutis laxa, Pulmonary artery stenosis OMIM:617237
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Yellow Nail Syndrome
Sinusitis, Abnormal toenail morphology, Hypoplasia of lymphatic vessels, Cough, Onycholysis, Bron... ORPHA:662
Autosomal Dominant Cutis Laxa
Emphysema, Dermal translucency, Bronchiolitis, Aortic regurgitation, Hyperextensible skin, Conges... ORPHA:90348
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism, Purpura ORPHA:745
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis, Soft skin, Hyperextensible skin, Soft, doughy skin OMIM:130010
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism, Skin ulcer, Purpura ORPHA:743
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Dermal translucency, Ascending aortic dissection, Recurrent intrapulmonary hemorrhage,... OMIM:130050
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recur... ORPHA:1572
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Cough, Dyspnea, Pulmonary arterial hypertension, C... ORPHA:228116
Neonatal Marfan Syndrome
Emphysema, Hypoxemia, Mitral regurgitation, Aortic root aneurysm, Abnormal echocardiogram, Ascend... ORPHA:284979
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Absent pubic hair, Sparse eyebrow, Cutis laxa, Scaling skin, Absent axillary hair, Alopecia of sc... ORPHA:2269
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Rhinorrhea, Bronchiectasis, Right aortic arch, Wheezing OMIM:617577
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Aortic regurgitation, Abnormal left ventricular fu... ORPHA:91387
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonic stenosis, Coarctation of a... OMIM:613854
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Aplasia/Hypoplasia of the eyebrow, Fine hair, Cutis laxa, Pulmonar... ORPHA:276432
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Cutis laxa OMIM:105120
Cutis Laxa, Autosomal Dominant 2
Mitral regurgitation, Premature skin wrinkling, Cutis laxa OMIM:614434
Keutel Syndrome
Soft, doughy skin, Underdeveloped nasal alae, Pulmonary arterial hypertension, Recurrent sinusiti... ORPHA:85202
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspi... OMIM:612863
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower respiratory tract in... OMIM:619632
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Cuti... OMIM:314400
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Reduced FEV1/FVC ratio, ... ORPHA:70591
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failure, Peripheral arter... ORPHA:90308
Absence Of The Pulmonary Artery
Atrial fibrillation, Pulmonary edema, Recurrent pneumonia, Patent ductus arteriosus, Congestive h... ORPHA:980
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Depressed nasal ... ORPHA:93274
Takayasu Arteritis
Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Myocardial infarction, Abnormal pa... ORPHA:3287
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Ogden Syndrome
Torsade de pointes, Underdeveloped nasal alae, Premature ventricular contraction, Arrhythmia, Ven... OMIM:300855
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect, Depressed nasal bridge, Respiratory insufficiency... ORPHA:2655
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis OMIM:242700
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Redundant neck skin, Neonatal respiratory distre... OMIM:619003
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriovenous malformation, Skin ulcer, Int... ORPHA:624
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Long eyelashes in irregular rows, A... ORPHA:2963
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Hyperextensible s... OMIM:130090
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Arterial Tortuosity Syndrome
Cardiac arrest, Telangiectasia of the skin, Cardiorespiratory arrest, Hypertension, Arterial sten... ORPHA:3342
Rafiq Syndrome
Underdeveloped nasolabial fold, Bulbous nose, Wide nasal bridge, Cutis laxa, Wide nose, Prominent... OMIM:614202
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect ORPHA:369847
Aorta Coarctation
Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Coronary artery atherosc... ORPHA:1457
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Keutel Syndrome
Emphysema, Sinusitis, Airway obstruction, Pulmonary artery hypoplasia, Peripheral pulmonary arter... OMIM:245150
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta OMIM:615779
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short nose, Abnormal cardia... ORPHA:1200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Hypertension ORPHA:1345
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Sparse eyebrow, Cutis laxa, Trichorrhexis nodosa, Sparse hair OMIM:619691
Macs Syndrome
Hyperextensible skin, Sparse eyebrow, Cutis laxa, Bronchiectasis, Alopecia, Sparse hair, Redundan... OMIM:613075
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Asthma, Dilated left subclavian artery... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hy... ORPHA:275766
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Naxos Disease
Paroxysmal ventricular tachycardia, Woolly hair, Congestive heart failure, Arrhythmia, Sudden car... ORPHA:34217
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Vascular dilatation, Short nose OMIM:616430
Peeling Skin Syndrome 1
Brittle hair, Asthma, Erythema, Onycholysis, Abnormality of hair texture, Scaling skin OMIM:270300
Rin2 Syndrome
Hyperextensible skin, Aortic aneurysm, Sparse scalp hair, Hirsutism, Redundant skin ORPHA:217335
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Ventricular hypertrop... OMIM:300887
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory failure, Dyspnea, Respiratory distress, Anteverted nares, Shor... ORPHA:1832
Cranioectodermal Dysplasia 3
Broad nail, Sparse hair, Fine hair, Peripheral pulmonary artery stenosis, Cutis laxa, Short nail,... OMIM:614099
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Respiratory insufficiency, Tetralogy of Fallot, Abnormality of the pu... ORPHA:1166
Alg9-Cdg
Low insertion of columella, Right ventricular dilatation, Underdeveloped nasal alae, Asthma, Atri... ORPHA:79328
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
6P22 Microdeletion Syndrome
Redundant skin, Patent ductus arteriosus ORPHA:251046
Menkes Disease
Brittle hair, Cutis laxa, Alopecia, Sparse hair, Intracranial hemorrhage OMIM:309400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Ciliary dyskinesia, Recurrent respirator... ORPHA:1882
Marfan Syndrome
Emphysema, Congestive heart failure, Descending aortic dissection, Striae distensae, Pulmonary ar... ORPHA:558
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Rhiny
Anteverted nares, Short nose OMIM:180360
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Restrictive ventilatory defect, Gastrointestinal hemorrhage, Pulmonary ly... ORPHA:538
Carvajal Syndrome
Dilated cardiomyopathy, Woolly hair, Congestive heart failure ORPHA:65282
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hyperextensible skin, Wide nasal bridge, Cutis laxa, Pulmonic stenosis, Aortic valve stenosis ORPHA:75496
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Wide nasal bridge, Abnormal heart morphology, Prominent nasal bridge, Ventr... ORPHA:401935
Meier-Gorlin Syndrome 6
Emphysema, Depressed nasal ridge, Underdeveloped nasal alae, Tracheobronchomalacia, Recurrent res... OMIM:616835
Agel Amyloidosis
Arrhythmia, Sleep apnea, Respiratory tract infection, Cutis laxa, Nail dystrophy, Cardiomyopathy,... ORPHA:85448
Weaver Syndrome
Hypoplastic toenails, Fine hair, Thin nail, Deep-set nails, Abnormal fingernail morphology, Redun... ORPHA:3447
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Pulmonary hemorrhage, Ischemic stroke, Cough, Myocardial infarction, Dyspne... ORPHA:2038
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Inspiratory stridor, Short nose OMIM:618618
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Limited Cutaneous Systemic Sclerosis
Mucosal telangiectasiae, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary f... ORPHA:220402
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Ventricular septal defect, Emphysema, P... OMIM:619472
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pleural effusion, Cough, Pulmonic stenosis, Pulmonary arterial hyperten... ORPHA:2414
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Excessive wrinkl... ORPHA:1860
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair, Cutis laxa OMIM:614800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Glutamine Deficiency, Congenital
Bradycardia, Erythema, Wide nasal bridge, Recurrent respiratory infections, Depressed nasal bridg... OMIM:610015
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Prominent veins on trunk, Excessive wrinkled skin, Cutis laxa, Thick hair, Redundant... ORPHA:357074
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Congenital Gerbode Defect
Right atrial enlargement, Crackles, Left-to-right shunt, Ventricular septal defect, Holosystolic ... ORPHA:99095
Noonan Syndrome 8
Hyperextensible skin, Patent ductus arteriosus, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:615355
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Underdeveloped nasal alae, Ventricular septal defect, Truncus arterio... ORPHA:2516
Periodontal Ehlers-Danlos Syndrome
Hyperextensible skin ORPHA:75392
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose ORPHA:217340
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, In... ORPHA:90060
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ventricular tachycardia, Pulmonary artery hypoplasia, Congestive heart fa... OMIM:613426
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Hypoxemia, Abnormal left... ORPHA:97292
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia OMIM:613804
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Interrupted i... OMIM:613751
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Sleep apnea, Pulmonary arterial hypertension, Depressed nasal bridge, C... OMIM:616482
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nasal bridge, Cutis laxa, Wide nose, Prominent nose ORPHA:397941
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Focal Facial Dermal Dysplasia Type Iii
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... ORPHA:1807
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Patent ductus arteriosus, Ventricular septal defect, Short nose ORPHA:261120
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Prominent superficial veins, Redundant skin, Bulbous nose OMIM:612940
Transaldolase Deficiency
Abnormal respiratory system physiology, Telangiectasia, Premature skin wrinkling, Coarctation of ... ORPHA:101028
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Anauxetic Dysplasia 3
Small nail, Cutis laxa, Broad eyebrow, Recurrent respiratory infections, High anterior hairline, ... OMIM:618853
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm OMIM:616166
Fabry Disease
Emphysema, Abnormal myocardium morphology, Abnormal endocardium morphology, Left ventricular hype... ORPHA:324
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Fine hair, Cutis laxa, Sparse hair, Excessive wrinkled skin OMIM:614438
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure, Hypertension OMIM:605711
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Congestive heart failu... ORPHA:2326
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:181000
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxygen desatu... ORPHA:60025
Marfan Syndrome
Emphysema, Aortic regurgitation, Congestive heart failure, Aortic root aneurysm, Striae distensae... OMIM:154700
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonary arterial hypertension, Transien... ORPHA:464343
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Cutis laxa OMIM:614378
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Cutis laxa, Abnormality of hair texture, Redundant skin OMIM:219200
De Barsy Syndrome
Dermal translucency, Patent ductus arteriosus, Prominent veins on trunk, Cutis laxa, Recurrent si... ORPHA:2962
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Atrial septal defect, Narrow nose, Coarctation of aorta, Ventricular septal defect, Pn... OMIM:617602
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail m... ORPHA:248
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bulbous nose, Coarctation of aorta, Bicuspid aortic... OMIM:612474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Hyperextensible skin, Cutis laxa OMIM:615349
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Patent ductus arteriosus, Atrial septal defect, Prominent nasal bridge, Hypertensio... OMIM:613870
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Recurrent pneumonia, Wide nasal bridge, Recurrent bronchopulmonary infections, Cor pul... OMIM:219721
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Blepharonasofacial Malformation Syndrome
Wide nose, Redundant skin, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1252
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal aortic valve cusp morphology, Congestive heart failure, Patent for... ORPHA:99094
Monilethrix
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus OMIM:613355
Cardiac Diverticulum
Pulmonary artery hypoplasia, Premature ventricular contraction, Tricuspid atresia, Dextrocardia, ... ORPHA:1686
Baker-Gordon Syndrome
Sleep apnea, Prominent nasal tip, Short nose OMIM:618218
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Pulmonary arterial hypertension, Depressed nasal bridge, Hypertension, Wide nose, Card... OMIM:613320
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Exertional dyspnea, Right ventricular hypertrophy, Syncope, Angi... OMIM:265400
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Cutis laxa OMIM:612379
Antisynthetase Syndrome
Aortic regurgitation, Myocarditis, Cough, Pulmonary arterial hypertension, Recurrent respiratory ... ORPHA:81
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Patent ductus arteriosus, Pulmonic stenosis, Choanal atresia, Coarctation of aorta,... ORPHA:284169
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Abnormal heart valve morphology, Respiratory failure, ... ORPHA:31204
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Nail dysplasia, Fine hair, Slow-growing hair, Sparse eyelashes, Sparse hair, Dry ... OMIM:129490
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose OMIM:155050
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Aortic regurgitation, Cutis laxa OMIM:616603
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Mitral valve prolapse, Striae distensae OMIM:130020
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Depressed nasal bridge, Short nose, Pulmonary hypoplasia OMIM:241800
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, D... OMIM:613834
Maxillonasal Dysplasia
Depressed nasal ridge, Striae distensae, Depressed nasal bridge, Abnormality of the nares, Short ... ORPHA:1248
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Coarctation of aorta, Abnormal lung lo... ORPHA:1120
Heterotaxy, Visceral, 6, Autosomal
Right aortic arch, Total anomalous pulmonary venous return, Double outlet right ventricle, Transp... OMIM:614779
Chromosome 18P Deletion Syndrome
Anteverted nares, Wide nasal bridge, Redundant neck skin OMIM:146390
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Soft, doughy skin, Spontaneous neonatal pneumothorax, Hirsutism, Redundant skin OMIM:225410
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia, Wide nose, Anteverted nares, Short nose OMIM:300209
Aortic Arch Interruption
Tachypnea, Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertensi... ORPHA:2299
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Achondrogenesis
Anteverted nares, Aplasia/Hypoplasia of the lungs, Short nose ORPHA:932
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopath... ORPHA:1842
C Syndrome
Patent ductus arteriosus, Wide nasal bridge, Cutis laxa, Ventricular septal defect, Anteverted na... OMIM:211750
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Coarctation of aorta, Double outlet right ventricle, Pulmonic stenosis,... OMIM:618164
Ehlers-Danlos Syndrome, Classic-Like, 2
Thin eyebrow, Redundant skin, Hyperextensible skin, Low posterior hairline OMIM:618000
Costello Syndrome
Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Hypertrophic cardiomyopathy, Pulmoni... ORPHA:3071
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus ORPHA:2248
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Lysinuric Protein Intolerance
Hyperextensible skin, Intraalveolar phospholipid accumulation, Pulmonary hemorrhage, Fine hair, C... OMIM:222700
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Recurrent pneumonia, Short nose ORPHA:1495
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Atrial septal defect... ORPHA:289
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Hypotrichosis 6
Brittle hair, Pili torti, Sparse eyebrow, Erythema, Sparse eyelashes, Sparse hair OMIM:607903
Recombinant 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Depressed nasal bridge, Vent... ORPHA:96167
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers, Hyperextensible skin OMIM:608763
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensible skin, Aortic root aneurysm, Recurrent sinusitis, Recurrent lower respiratory trac... OMIM:130000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Carotid artery tortuosity, Hyperextensible skin, Soft, doughy skin, Striae d... OMIM:619329
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Obstructive sleep apnea, Persisten... OMIM:609008
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Congestive heart failu... ORPHA:774
Classical-Like Ehlers-Danlos Syndrome Type 1
Hyperextensible skin, Gastrointestinal hemorrhage, Arrhythmia, Precocious atherosclerosis ORPHA:230839
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Noonan Syndrome 9
Curly hair, Coarctation of aorta, Sparse eyebrow, Pulmonic stenosis OMIM:616559
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Noonan Syndrome 10
Hyperextensible skin, Patent ductus arteriosus, Palmoplantar cutis laxa, Sparse eyebrow, Hypertro... OMIM:616564
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Persistent left su... ORPHA:2306
Palmoplantar Keratoderma And Woolly Hair
Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Leukonychia, ... OMIM:616099
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Coarse hair, Nail dystrophy, Pulmonary artery stenosis, Alopecia ORPHA:75389
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Achondrogenesis Type 1B
Anteverted nares, Aplasia/Hypoplasia of the lungs, Short nose ORPHA:93298
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal hair morphology, Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus OMIM:608406
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Bulbous nose, Ventricular septal defect, Short nose OMIM:613458
Double Outlet Right Ventricle
Tetralogy of Fallot, Tachypnea, Pulmonic stenosis, Double outlet right ventricle, Coarctation of ... ORPHA:3426
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Short nose ORPHA:1389
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Restrictive ventilatory defect, Wide nasal bridge, Respiratory tract infection, Short nose OMIM:218000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Hypoplastic toenails, Vascular ring OMIM:601927
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Depressed nasal bridge, Neonatal respiratory distress, Anteverted nares... OMIM:618961
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eyebrow, Nai... ORPHA:2890
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Non-Distal Trisomy 10Q
Depressed nasal bridge, Convex nasal ridge, Short nose ORPHA:1695
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta ORPHA:2876
Tetrasomy 5P
Congestive heart failure, Wide nasal bridge, Pulmonary arterial hypertension, Recurrent respirato... ORPHA:3309
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Thin toenail, Hypoplastic toenails, Fine hair, Ridged fingernail, Fragil... ORPHA:2228
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Prolidase Deficiency
Recurrent pneumonia, Petechiae, Asthma, Depressed nasal bridge, Chronic lung disease, Concave nas... OMIM:170100
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Pulmona... ORPHA:391372
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Portal hypertension, Respiratory failure, Tachypnea, Cough, Dilatation of the cerebral... OMIM:613658
Achondrogenesis Type 1A
Anteverted nares, Aplasia/Hypoplasia of the lungs, Short nose ORPHA:93299
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Striae distensae OMIM:604308
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Abnormal heart valve morphology, Soft, doughy skin, Hyperextensib... ORPHA:536471
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dermal translucency, Coarse hair, Patent ductus arteriosus, Sparse lateral eyebrow, Aortic root a... OMIM:617506
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Hypoxemia, Foam cells, Intraalveolar phospholipid accumulation, C... ORPHA:747
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Bronchiectasis, Depressed nasal bridge, Anteverted nare... OMIM:242860
Encephalopathy Due To Sulfite Oxidase Deficiency
Abnormal pattern of respiration, Short nose ORPHA:833
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Alope... OMIM:613573
Naxos Disease
Dilated cardiomyopathy, Woolly hair, Premature ventricular contraction, Congestive heart failure,... OMIM:601214
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Absent eyelashes, Absent eyebrow, Right aortic arch, Alopecia, Sparse hair OMIM:147770
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Tra... ORPHA:1913
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, First degree atrioventricular block, At... ORPHA:392
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Wide nasal bridge, Hy... ORPHA:251071
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... OMIM:601186
Acrogeria
Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, Fine hair ORPHA:2500
Hereditary Mucoepithelial Dysplasia
Fine hair, Recurrent respiratory infections, Pulmonary fibrosis, Alopecia, Sparse hair ORPHA:1839
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Pseudoxanthoma Elasticum
Hyperextensible skin, Gastrointestinal hemorrhage, Retinal hemorrhage, Striae distensae, Sudden c... ORPHA:758
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Bulbous nose, Choanal stenosis, Redundant neck skin, Anteverted nares, Pulmon... OMIM:236500
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Prominent nasal bridge, Ven... OMIM:618652
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Central hypoventilation, Aortic root aneurysm ORPHA:171881
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Varicose veins, Hypotension, Cerebral hemorrhage OMIM:263400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Thoracic aortic ane... OMIM:619351
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Woolly hair, Erythema, Nail dystrophy, Syncope, Fragile nails, Leukonychi... OMIM:615821
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Nail dysplasia, Sparse eyebrow, Fine hair, Slow-grow... OMIM:129500
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Aplasia/Hypoplasia of the lungs, Short nose ORPHA:2145
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Patent ductus arteriosus OMIM:610498
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Joint hemorrhage, Ecchymosis, Epistaxis OMIM:277450
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hyperextensible skin, Prominent nasolabial fold, Abnormal heart ... ORPHA:2953
Myofibrillar Myopathy 11
Reduced forced vital capacity, Coarctation of aorta OMIM:619178
Hypotrichosis Simplex Of The Scalp
Fine hair, Allergic rhinitis, Scaling skin, Slow-growing scalp hair, Sparse scalp hair, Alopecia ... ORPHA:90368
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformat... OMIM:187300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Abnormal heart morphology, Depressed nasal bridge, Respiratory distre... ORPHA:314655
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Pulmonary arterial hypertension, Hypertension, Right ventricular hypert... OMIM:613623
Fontaine Progeroid Syndrome
Coarse hair, Anonychia, Hypertrichosis, Patent ductus arteriosus, Absent nipple, Low anterior hai... OMIM:612289
Braddock Syndrome
Neonatal respiratory distress, Abnormal hair pattern, Pulmonary arterial hypertension, Pulmonary ... ORPHA:52047
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Cardiofaciocutaneous Syndrome
Brittle hair, Hyperextensible skin, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morpholog... ORPHA:1340
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Wide nasal bridge, Depressed nasal bridge, Ventricula... OMIM:145420
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Coarctation of aorta OMIM:614857
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal lung lobation, Dry skin, Abnormal hair quantity ORPHA:1745
Dermatomyositis
Abnormality of the nail, Sinus tachycardia, Dry skin, Arrhythmia, Erythema, Lung adenocarcinoma, ... ORPHA:221
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Soft, doughy skin, Broad lateral eyebrow, Sparse eyebrow, Respiratory failure, Transie... ORPHA:500150
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Cough, Dyspnea, Heart murmur, Dilatation of the s... ORPHA:1054
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Nail dysplasia, Sparse eyebrow, Palmoplantar erythema, Alopecia, Leukonychia, Spars... OMIM:104100
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Cardiac-Valvular Ehlers-Danlos Syndrome
Hyperextensible skin, Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Soft, ... ORPHA:230851
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Arterial rupture ORPHA:300179
Sarcoidosis
Emphysema, Chylothorax, Portal hypertension, Ventricular tachycardia, Arrhythmia, Abnormal pleura... ORPHA:797
Adams-Oliver Syndrome
Tetralogy of Fallot, Portal hypertension, Gastrointestinal hemorrhage, Absent fingernail, Pulmona... ORPHA:974
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia involving the nose, Short nose, Depressed nasal ridge ORPHA:1529
Trichorhinophalangeal Syndrome Type 2
Thick nasal alae, Redundant skin, Wide nasal bridge, Bulbous nose ORPHA:502
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hypertension, Hypertensio... OMIM:230800
Diabetic Embryopathy
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Transpositi... ORPHA:1926
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Gapo Syndrome
Prominent scalp veins, Nail dysplasia, Sparse eyebrow, Hypoplastic nipples, Sparse eyelashes, Alo... OMIM:230740
Meier-Gorlin Syndrome 1
Emphysema, Long eyelashes, Respiratory distress, Hyperconvex nail, Breast hypoplasia OMIM:224690
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Bulbous nose, Atrial septal defect, Subvalvular aortic stenosis, Sleep apne... OMIM:614114
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Dyspnea... ORPHA:141127
Cocaine Intoxication
Tachypnea, Hypertension, Prolonged QRS complex, Wheezing, Pulmonary edema, Hypotension, Cough, Pr... ORPHA:90068
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Dermal translucency, Abdominal aortic aneurysm, Patent ductus arteriosus, A... OMIM:610168
Peho-Like Syndrome
Short nose OMIM:617507
Kagami-Ogata Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:608149
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Dyspnea, Pulmonary arterial hypertension, Telangiectasia of the skin, H... ORPHA:220393
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Respiratory failure requiring assisted ventilation, Depressed nasal ridge, Paten... ORPHA:79345
Coffin-Lowry Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Sleep apnea, Thick nasal a... ORPHA:192
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Scimitar anomaly, Partial anomalous pulmonary veno... OMIM:608978
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hyperextensible skin, Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Cutis lax... OMIM:245600
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Coarse hair, Nail dysplasia, Chronic mo... OMIM:158310
Occipital Horn Syndrome
Orthostatic hypotension, Hyperextensible skin, Carotid artery tortuosity, Coarse hair, Soft skin,... OMIM:304150
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Slow-growing hair OMIM:601453
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Budd-Chiari s... ORPHA:729
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Pulmonic stenosis OMIM:614300
Cleft Palate, Cardiac Defects, And Mental Retardation
Sparse eyebrow, Coarctation of aorta, Highly arched eyebrow, Laterally extended eyebrow, High ant... OMIM:600987
Immunodeficiency 23
Vasculitis in the skin, Aortic root aneurysm, Asthma, Erythema, Bronchiectasis, Recurrent respira... OMIM:615816
Chops Syndrome
Patent ductus arteriosus, Chronic lung disease, Aspiration pneumonia, Short nose, Abnormal cardia... OMIM:616368
Axenfeld-Rieger Syndrome
Depressed nasal bridge, Redundant skin, Wide nasal bridge ORPHA:782
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Wide nasal bridge, Pulmonic stenosis, Pulmonary a... OMIM:612541
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Anteverted nares, Broad columella, Atrial septal defect, Hypertrophic cardiomyopathy, Wide nasal ... OMIM:619383
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Short nose OMIM:615042
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Depressed nasal bridge, Ventricular septal defect... OMIM:613457
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Classical-Like Ehlers-Danlos Syndrome Type 2
Hyperextensible skin, Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Al... ORPHA:536532
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Supernumerary nipple, Pulmonary arterial hypertension, Redundant neck s... ORPHA:2519
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Obstructive sleep apnea, Transposition of the great arteries, Perimembranous v... OMIM:617877
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Respiratory insufficiency, Anteverted nares, Short nose ORPHA:1914
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Interrupted inferior vena c... OMIM:616749
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Schimke Immunoosseous Dysplasia
Coarse hair, Arteriosclerosis, Fine hair, Transient ischemic attack, Hypertension, Cerebral ischemia OMIM:242900
Odontochondrodysplasia
Respiratory distress, Depressed nasal bridge, Patent ductus arteriosus, Short nose ORPHA:166272
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Cutis laxa, Choanal atresia OMIM:270420
17P13.3 Microduplication Syndrome
Wide nose, Short nose ORPHA:217385
Scarf Syndrome
Hypoplastic nipples, Sparse hair, Cutis laxa, Low posterior hairline ORPHA:3134
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Patent ductus arteriosus, Depressed nasal bridge, Cardiomyopathy, Respiratory dis... OMIM:217980
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Woolly hair, Congestive heart failure OMIM:605676
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
9q subtelomeric deletion syndrome
Abnormal heart morphology, Anteverted nares, Short nose DECIPHER:52
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Hyperextensible skin, Arrhy... ORPHA:500
Noonan Syndrome 2
Hyperextensible skin, Patent ductus arteriosus, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:605275
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Hypoplastic fin... ORPHA:2059
Specific Granule Deficiency 2
Recurrent pneumonia, Hyperextensible skin, Nail dysplasia, Fragile nails, Hirsutism OMIM:617475
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613038
Alg12-Cdg
Recurrent pneumonia, Patent foramen ovale, Chronic rhinitis, Patent ductus arteriosus, Biventricu... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus, Long eyelashes OMIM:615502
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Wide nasal bridge, Pleural effusion, Ventricular septal defect, Pulm... OMIM:616897
Barber-Say Syndrome
Hyperextensible skin, Bulbous nose, Wide nasal bridge, Anteverted nares, Redundant skin ORPHA:1231
Alg8-Cdg
Premature skin wrinkling, Cutis laxa ORPHA:79325
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Aortic regurgitation, Coarctation of aorta, He... ORPHA:402075
Leopard Syndrome 3
Curly hair, Tetralogy of Fallot, Dry skin, Low posterior hairline OMIM:613707
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Aplasia/Hypoplasia of the eyebrow, Telangiectasia of the skin, Hypertensio... ORPHA:286
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Nail dysplasia, Sparse eyebrow, Abnormality of hair texture, Sparse eyelashes, Prog... OMIM:225060
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Vascular ring OMIM:603387
Edinburgh Malformation Syndrome
Respiratory insufficiency, Anteverted nares, Short nose, Choanal atresia ORPHA:1895
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Velocardiofacial Syndrome
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Double ao... OMIM:192430
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Coarse hair, Patent ductus arteriosus, Long eyelashes, Congestive heart fail... OMIM:617303
Dwarfism, Familial, With Muscle Spasms
Fine hair, Brittle scalp hair, Sparse scalp hair OMIM:600771
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Pulmonary insufficiency, Patent ductus arteriosus, Neonatal respiratory dist... OMIM:265380
Systemic Sclerosis
Vascular dilatation, Raynaud phenomenon, Nail bed telangiectasia, Myocarditis, Dyspnea, Pulmonary... ORPHA:90291
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
Clark-Baraitser Syndrome
Depressed nasal bridge, Short nose OMIM:617752
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
X-Linked Intellectual Disability, Nascimento Type
Generalized hirsutism, Tetralogy of Fallot, Lumbar hypertrichosis, Patent ductus arteriosus, Peri... ORPHA:163956
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cutis laxa OMIM:219150
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Prominent superficial veins, Sparse eyebrow, Alopecia, Right bundle branch blo... OMIM:614008
Pierpont Syndrome
Wide nose, Broad nasal tip, Short nose OMIM:602342
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Anteverted nares, Short nose, Pulmonic stenosis ORPHA:2701
Scarf Syndrome
Cutis laxa, Hypoplastic nipples, Low anterior hairline, Sparse hair, Low posterior hairline OMIM:312830
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Myocarditis, Dyspnea, Pulmonary arterial hypertension, Pulm... ORPHA:809
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Abnormal left ventricular function, Peripheral arterial stenosis, Cer... ORPHA:391665
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Choanal atresia ORPHA:1923
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Coarctation of aorta, Hypoplastic left heart, Depressed nasal br... OMIM:301022
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Hyperextensible skin, Aortic regurgitation, Mitral regurgitation, Soft skin, Mitral valve prolapse OMIM:225320
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Mitral valve prolapse, Striae distensae OMIM:225310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Thick nasal alae, Apneic episodes in infancy, Short nose ORPHA:163961
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Thick eyebrow, Mitral regurgitation, Supraventric... ORPHA:404443
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Wide nasal bridge, Bicuspid aortic valve, Anteverted nares, Short nose OMIM:618529
Pterygium Colli, Isolated
Short nose OMIM:177990
Weaver Syndrome
Fine hair, Cutis laxa, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Right ventricular hypertro... OMIM:614261
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Sparse hair, Trichorrhexis nodosa, Pili canaliculi, Uncombable hair OMIM:614602
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Neonatal respiratory distress, Shor... OMIM:618828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia, Budd-Chiari syndrome OMIM:226300
Lipoyltransferase 1 Deficiency