Ehlers-Danlos syndrome, cardiac valvular type
- Synonyms
- Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (59 available)
Clinical features
Help- Abnormality of limbs
- Calcaneovalgus deformity
Calcaneovalgus deformity
- MedGen UID: 395489
- Concept ID: C1860450
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu recurvatum
Genu recurvatum
- MedGen UID: 107486
- Concept ID: C0546964
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Calcaneovalgus deformity
- Abnormality of the cardiovascular system
- Aortic regurgitation
Aortic regurgitation
- MedGen UID: 8153
- Concept ID: C0003504
- 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
- Aortic regurgitation
- 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
- Hyperextensible skin
Hyperextensible skin
- MedGen UID: 66023
- Concept ID: C0241074
- Finding: Finding
Abnormality of the integument
- Soft skin
Soft skin
- MedGen UID: 336730
- Concept ID: C1844592
- Finding: Finding
Abnormality of the integument
- Thin skin
Thin skin
- MedGen UID: 140848
- Concept ID: C0423757
- Finding: Finding
Abnormality of the integument
- Atrophic scars
- Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
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