Cutis laxa, autosomal dominant 1
- Synonyms
- ELN-Related Cutis Laxa
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Lionel Van Maldergem
- Bart Loeys
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Convex nasal ridge
Convex nasal ridge
- MedGen UID: 66809
- Concept ID: C0240538
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Convex nasal ridge
- Abnormality of the cardiovascular system
- Aortic regurgitation
Aortic regurgitation
- MedGen UID: 8153
- Concept ID: C0003504
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- 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
- Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis
- MedGen UID: 138014
- Concept ID: C0345030
- Finding: Finding
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic regurgitation
- Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperextensible skin
Hyperextensible skin
- MedGen UID: 66023
- Concept ID: C0241074
- Finding: Finding
Abnormality of the integument
- Poor wound healing
Poor wound healing
- MedGen UID: 377525
- Concept ID: C1851789
- Finding: Finding
Abnormality of the integument
- Prematurely aged appearance
Prematurely aged appearance
- MedGen UID: 346633
- Concept ID: C1857656
- Finding: Finding
Abnormality of the integument
- Progeroid facial appearance
Progeroid facial appearance
- MedGen UID: 341830
- Concept ID: C1857710
- Finding: Finding
Abnormality of the integument
- Redundant skin
Redundant skin
- MedGen UID: 154379
- Concept ID: C0581342
- Finding: Pathologic Function
Abnormality of the integument
- Cutis laxa
- Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Uterine prolapse
Uterine prolapse
- MedGen UID: 22591
- Concept ID: C0042140
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
- Abnormality of the respiratory system
- Bronchiectasis
Bronchiectasis
- MedGen UID: 14234
- Concept ID: C0006267
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Dyspnea
Dyspnea
- MedGen UID: 3938
- Concept ID: C0013404
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Emphysema
Emphysema
- MedGen UID: 18764
- Concept ID: C0034067
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Bronchiectasis
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