Loeys-Dietz syndrome

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


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PMID (PMCID)
24440784
 FEMALE
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.
Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D.
Gene. 2014;538(1):69-73.
Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called Loeys-Dietz syndrome, type 4.