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
- 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
- High palate
- 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
- Carotid artery dilatation
Carotid artery dilatation
- MedGen UID: 1393749
- Concept ID: C4476554
- Finding: Anatomical Abnormality
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
- 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
- Abdominal aortic aneurysm
- Abnormality of the integument
- Striae distensae
Striae distensae
- MedGen UID: 57541
- Concept ID: C0152459
- Finding: Acquired Abnormality
Abnormality of the integument
- Striae distensae
- 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
- Osteoarthritis, hip
Osteoarthritis, hip
- MedGen UID: 14530
- Concept ID: C0029410
- 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
- Intervertebral disk degeneration
- 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
- Disproportionate tall stature
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