Hereditary connective tissue disease

Last revised by Daniel J Bell on 22 Feb 2021

Citation, DOI, disclosures and article data

Citation:

Jones J, Bell D, Smith H, et al. Hereditary connective tissue disease. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-5887

DOI:

https://doi.org/10.53347/rID-5887

Permalink:

https://radiopaedia.org/articles/5887

rID:

5887

Article created:

26 Mar 2009, Jeremy Jones ◉

Disclosures:

At the time the article was created Jeremy Jones had no recorded disclosures.

View Jeremy Jones's current disclosures

Last revised:

22 Feb 2021, Daniel J Bell ◉

Disclosures:

At the time the article was last revised Daniel J Bell had no recorded disclosures.

View Daniel J Bell's current disclosures

Revisions:

5 times, by 4 contributors - see full revision history and disclosures

Systems:

Vascular, Chest, Musculoskeletal, Paediatrics

Sections:

Classifications

Tags:

stub, refs, endocrine

Synonyms:

Hereditary connective tissue disorders

Hereditary connective tissue diseases are an enlarging group of connective tissue diseases that have a degree of inheritance risk. They include:

Marfan syndrome: genetic disease causing abnormal fibrillin
Ehlers-Danlos syndrome: progressive deterioration of collagen and affects joints, heart valves, organ walls, arterial walls and soft tissues
osteogenesis imperfecta: insufficient good quality collagen for bone formation
Stickler syndrome: affects collagen and results in characteristic facies
epidermolysis bullosa: a blistering condition of the skin
arterial tortuosity syndrome: marked twisting course of arteries