Aneurysm-osteoarthritis syndrome
- Synonyms
- ANEURYSMS-OSTEOARTHRITIS SYNDROME; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome 3; Loeys-Dietz syndrome, type 1C; SMAD3-Related Loeys-Dietz Syndrome; SMAD3-Related Thoracic Aortic Aneurysms and Aortic Dissections
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Bart L Loeys
- Harry C Dietz
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (104 available)
Clinical features
Help- Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Bifid uvula
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Osteoarthritis, knee
Osteoarthritis, knee
- MedGen UID: 98371
- Concept ID: C0409959
- Finding: Disease or Syndrome
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Protrusio acetabuli
Protrusio acetabuli
- MedGen UID: 98369
- Concept ID: C0409495
- Finding: Anatomical Abnormality
Abnormality of limbs
- Arachnodactyly
- Abnormality of the cardiovascular system
- Abdominal aortic aneurysm
Abdominal aortic aneurysm
- MedGen UID: 56524
- Concept ID: C0162871
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Aortic aneurysm
Aortic aneurysm
- MedGen UID: 362
- Concept ID: C0003486
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic dissection
Aortic dissection
- MedGen UID: 83315
- Concept ID: C0340643
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic tortuosity
Aortic tortuosity
- MedGen UID: 870555
- Concept ID: C4025003
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Arterial tortuosity
Arterial tortuosity
- MedGen UID: 480821
- Concept ID: C3279191
- Finding: Finding
Abnormality of the cardiovascular system
- Ascending aortic dissection
Ascending aortic dissection
- MedGen UID: 322966
- Concept ID: C1836653
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial fibrillation
Atrial fibrillation
- MedGen UID: 445
- Concept ID: C0004238
- Finding: Finding
Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Descending aortic dissection
Descending aortic dissection
- MedGen UID: 868484
- Concept ID: C4022878
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Dilatation of the cerebral artery
Dilatation of the cerebral artery
- MedGen UID: 1386760
- Concept ID: C4476540
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Dilatation of the sinus of Valsalva
Dilatation of the sinus of Valsalva
- MedGen UID: 1392959
- Concept ID: C4476551
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral valve prolapse
Mitral valve prolapse
- MedGen UID: 7671
- Concept ID: C0026267
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Thoracic aortic aneurysm
Thoracic aortic aneurysm
- MedGen UID: 56525
- Concept ID: C0162872
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Tortuous cerebral arteries
Tortuous cerebral arteries
- MedGen UID: 373178
- Concept ID: C1836791
- Finding: Finding
Abnormality of the cardiovascular system
- Varicose disease
Varicose disease
- MedGen UID: 21827
- Concept ID: C0042345
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular hypertrophy
Ventricular hypertrophy
- MedGen UID: 87400
- Concept ID: C0340279
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Abdominal aortic aneurysm
- Abnormality of the digestive system
- Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus
- MedGen UID: 1637185
- Concept ID: C4703646
- Finding: Finding
Abnormality of the digestive system
- Eosinophilic infiltration of the esophagus
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Ectopia lentis
Ectopia lentis
- MedGen UID: 41704
- Concept ID: C0013581
- Finding: Congenital Abnormality
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the integument
- Atrophic scars
Atrophic scars
- MedGen UID: 57875
- Concept ID: C0162154
- Finding: Pathologic Function
Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Dermal translucency
Dermal translucency
- MedGen UID: 373141
- Concept ID: C1836646
- Finding: Finding
Abnormality of the integument
- Soft skin
Soft skin
- MedGen UID: 336730
- Concept ID: C1844592
- Finding: Finding
Abnormality of the integument
- Striae distensae
Striae distensae
- MedGen UID: 57541
- Concept ID: C0152459
- Finding: Acquired Abnormality
Abnormality of the integument
- Atrophic scars
- Abnormality of the musculoskeletal system
- Abnormal sternum morphology
Abnormal sternum morphology
- MedGen UID: 349830
- Concept ID: C1860493
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Cervical spine instability
Cervical spine instability
- MedGen UID: 96083
- Concept ID: C0410652
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Cystocele
Cystocele
- MedGen UID: 730551
- Concept ID: C1394494
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Intervertebral disk degeneration
Intervertebral disk degeneration
- MedGen UID: 102357
- Concept ID: C0158266
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteoarthritis
Osteoarthritis
- MedGen UID: 45244
- Concept ID: C0029408
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoarthritis, hip
Osteoarthritis, hip
- MedGen UID: 14530
- Concept ID: C0029410
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteochondritis dissecans
Osteochondritis dissecans
- MedGen UID: 10494
- Concept ID: C0029421
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spondylolisthesis
Spondylolisthesis
- MedGen UID: 52470
- Concept ID: C0038016
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Uterine prolapse
Uterine prolapse
- MedGen UID: 22591
- Concept ID: C0042140
- Finding: Finding
Abnormality of the musculoskeletal system
- Abnormal sternum morphology
- Abnormality of the nervous system
- Dural ectasia
Dural ectasia
- MedGen UID: 377094
- Concept ID: C1851712
- Finding: Finding
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Subarachnoid hemorrhage
Subarachnoid hemorrhage
- MedGen UID: 11625
- Concept ID: C0038525
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dural ectasia
- Abnormality of the respiratory system
- Pneumothorax
Pneumothorax
- MedGen UID: 19365
- Concept ID: C0032326
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pneumothorax
- Constitutional symptom
- Chronic fatigue
Chronic fatigue
- MedGen UID: 760077
- Concept ID: C0518656
- Finding: Finding
Constitutional symptom
- Sudden death
Sudden death
- MedGen UID: 8257
- Concept ID: C0011071
- Finding: Pathologic Function
Constitutional symptom
- Chronic fatigue
- Growth abnormality
- Disproportionate tall stature
Disproportionate tall stature
- MedGen UID: 323048
- Concept ID: C1836996
- Finding: Finding
Growth abnormality
- Disproportionate tall stature
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