Loeys-Dietz syndrome 6
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
Clinical tests (2 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
- Broad uvula
Broad uvula
- MedGen UID: 786050
- Concept ID: C3693299
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
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
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Bifid uvula
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- 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
- 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 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
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Carotid artery dilatation
Carotid artery dilatation
- MedGen UID: 1393749
- Concept ID: C4476554
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Carotid artery dissection
Carotid artery dissection
- MedGen UID: 488844
- Concept ID: C0338585
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Carotid artery tortuosity
Carotid artery tortuosity
- MedGen UID: 724577
- Concept ID: C1303076
- Finding: Finding
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
- Thoracic aortic aneurysm
Thoracic aortic aneurysm
- MedGen UID: 56525
- Concept ID: C0162872
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Transient ischemic attack
Transient ischemic attack
- MedGen UID: 853
- Concept ID: C0007787
- Finding: Disease or Syndrome
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
- Vertebral artery aneurysm
Vertebral artery aneurysm
- MedGen UID: 657756
- Concept ID: C0574027
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Vertebral artery tortuosity
Vertebral artery tortuosity
- MedGen UID: 1677223
- Concept ID: C5195051
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abdominal aortic aneurysm
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Allergy
Allergy
- MedGen UID: 9370
- Concept ID: C0020517
- Finding: Pathologic Function
Abnormality of the immune system
- Autoimmunity
Autoimmunity
- MedGen UID: 2136
- Concept ID: C0004368
- Finding: Pathologic Function
Abnormality of the immune system
- Allergy
- 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
- Bruising susceptibility
- 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
- Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
- MedGen UID: 68625
- Concept ID: C0235833
- Finding: Congenital Abnormality
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
- 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
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- 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
- Abnormal sternum morphology
- Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Migraine
- Abnormality of the respiratory system
- Spontaneous pneumothorax
Spontaneous pneumothorax
- MedGen UID: 57701
- Concept ID: C0149781
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Spontaneous pneumothorax
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Chronic fatigue
Chronic fatigue
- MedGen UID: 760077
- Concept ID: C0518656
- Finding: Finding
Constitutional symptom
- Arthralgia
- Growth abnormality
- Disproportionate tall stature
Disproportionate tall stature
- MedGen UID: 323048
- Concept ID: C1836996
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Tall stature
Tall stature
- MedGen UID: 69137
- Concept ID: C0241240
- Finding: Finding
Growth abnormality
- Disproportionate tall stature
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