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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 4

Ehlers-Danlos syndrome, type 4

Synonyms
Ehlers Danlos syndrome, Sack-Barabas type; Ehlers Danlos syndrome, arterial type; Ehlers Danlos syndrome, ecchymotic type; Ehlers-Danlos Syndrome Type IV; Ehlers-Danlos syndrome vascular type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Vascular Ehlers-Danlos Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Peter H Byers
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Available tests

151 tests are in the database for this condition.

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Clinical tests (151 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDS4A, EDSVASC, PMGEDSV, COL3A1
    Summary: collagen type III alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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