Dietz syndrome

Other Names

Loeys-Dietz aortic aneurysm syndrome; Aortic aneurysm syndrome, Loeys-Dietz type

Autosomal dominant and recessive

Clinical features

• Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula.
• Also see craniosynostosis, extropia, micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease.

Inheritance

• This condition is inherited in an autosomal dominant manner with variable clinical expression.

Types

• This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism.
• Individuals without these features are said to have Loeys-Dietz syndrome type 2.

Cause

• The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO). The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Diagnosis

It is diagnosed with person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis.

Treatment

• It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients.
• Many specialists may be involved for the best management of the patient.