Term Name: Loeys-Dietz syndrome
Synonyms:
Definition: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
Ontology: Human Disease [DOID:0050466]   ( DOID:0050466 )

Relationships
is a type of: autosomal dominant disease syndrome
has subtype: Loeys-Dietz syndrome 1 Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 3 Loeys-Dietz syndrome 4 Loeys-Dietz syndrome 5 Loeys-Dietz syndrome 6