Loeys-Dietz Syndrome (also known as Loeys Dietz Syndrome, Syndrome, Loeys-Dietz): An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELO

NIH MeSH · D055947Diseases

Loeys-Dietz Syndrome

Also known asLoeys Dietz Syndrome · Syndrome, Loeys-Dietz · Loeys-Dietz Aortic Aneurysm Syndrome · Loeys Dietz Aortic Aneurysm Syndrome · Loeys-Dietz Syndrome, Type 1a · Loeys Dietz Syndrome, Type 1a

Definition

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

MeSH classification

  • C05.660.207.532
  • C14.907.055.239.587
  • C14.907.109.139.587
  • C16.131.077.537
  • C16.320.510

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Acrocephalosyndactylia

Congenital craniostenosis with syndactyly.

Common questions about Loeys-Dietz Syndrome

What does Loeys-Dietz Syndrome mean in medicine?
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Loeys-Dietz Syndrome known by any other names?
Yes. Loeys-Dietz Syndrome is also referred to as Loeys Dietz Syndrome, Syndrome, Loeys-Dietz, Loeys-Dietz Aortic Aneurysm Syndrome, Loeys Dietz Aortic Aneurysm Syndrome in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Loeys-Dietz Syndrome sit in the medical classification?
Loeys-Dietz Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C05.660.207.532, C14.907.055.239.587, C14.907.109.139.587). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Loeys-Dietz Syndrome?
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Source: NIH MeSH 2026 (D055947) — National Library of Medicine, public domain. View official MeSH record ↗