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Ehlers-Danlos Syndrome Type 4 Details

Expanded Description

Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.

Prevalence

1.0 ( Per 100,000 Population ) [Source]

Causes

Ehlers-Danlos Syndrome Type 4 is caused by a mutation in the COL3A1 gene.

Disorder Symptoms

Fragile blood vessels and organs that are prone to tearing (rupture)
Thin, translucent skin that bruises easily
Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin
Collapsed lung (pneumothorax)
Heart valve problems (mitral valve prolapse and others)

We don't have any symptoms yet.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

Name
COL3A1 Genomic Sequencing

Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

We don't have any tips yet.