Disease Information for Loeys-Dietz Syndrome

Clinical Manifestations
Signs & Symptoms
Contractures Fingers/Toes
Translucent Velvety Skin
Congenital facial deformities
Scars/paper-thin stretched
Abdominal Pain
Diffuse Abdominal Pain
Poorly Localized Abdominal Pain
Bifid uvula
Joint range of motion/excess
Long thin fingers/toes (arachnodactyly)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Sex & Age Groups
Associated Diseases & Rule outs
Associated Disease & Complications
Aortic valve bicuspid stenosis
Arnold-Chiari syndrome
Atrial septal defect
Cleft Lip
Cleft palate/deformity
Clubbed foot/congenital
Congenital heart disease
Dissecting aortic aneurysm
Dural Ectasia Stretch/Cord
Hypermobility joints syndrome
Hypertelorism/Wide Spaced Eyes
Loeys-Dietz Syndrome
Patent ductus arteriosis
Pectus carinatum/pigeon chest
Pectus excavatum
Thoracic aneurysm/dilated aorta/ectasia
Thoracic Aortic Aneurysm
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Dura disorder (ex)
Pathophysiology/Gene mutation Transforming Growth Factor
Pathophysiology/TGF-beta Signaling Vessel wall increased
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
Drug Therapy - Indication
RX/Losartan (Cozaar)

Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).[1][2][3]

It was identified and characterized by American physician Harry C. Dietz and Belgian physician Bart L. Loeys, for whom it is named.

Many of the physical findings typical in Loeys-Dietz syndrome are also found in Marfan syndrome cases, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). However, it also has some additional traits not typical of Marfan patients, including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.


The main clinical characteristics include:

Widely spaced eyes (orbital hypertelorism)

Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)

Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

Other findings can include: Scoliosis ;

Indented or protruding chest wall (pectus excavatum or pectus carinatum) ;Contractures of fingers and toes (camptodactyly); Long fingers and lax joints; Club foot

Premature fusion of the skull bones (craniosynostosis);

Joint hypermobility ; Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)

Translucency of the skin with velvety texture

Abnormal junction of the brain and medulla (Arnold-Chiari malformation); Bicuspid aortic valves

[Wikipedia Online 2009]


External Links Related to Loeys-Dietz Syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)