Signs and Symptoms

model of heart

There are a variety of Loeys-Dietz syndrome (LDS) symptoms that can range from mild to severe and affect many areas of the body. 

Loeys-Dietz syndrome can affect individuals differently, even when they have the same type of LDS (types 1-6) or are from the same family. 

Signs and Symptoms

The most common features of LDS involve the following body systems.

  • Congenital (existing at birth) heart defects, which can include patent ductus arteriosus (PDA), atrial or ventricular septal defect (ASD/VSD) and bicuspid aortic valve (BAV)
  • Dilatation or dissection of the aorta and other arteries
  • Arterial tortuosity
  • Mitral valve prolapse

  • Long fingers and toes
  • Contractures of the fingers
  • Clubfoot or skewfoot deformity
  • Symptoms of flat feet
  • Scoliosis symptoms (s-like curvature of the spine)
  • Cervical spine instability (instability in the vertebrae directly below the skull)
  • Spondylolisthesis (slipping of vertebrae)
  • Joint laxity
  • Contracture (typically involving the fingers)
  • Pectis excavatum (chest wall deformity that causes the sternum and breastbone to grow inward) / Pectus carinatum (chest wall deformity that pushes the sternum and breastbone out)
  • Osteoarthritis
  • Joint hypermobility

  • Malar hypoplasia (flat cheek bones)
  • Slight downward slant to the eyes, lazy eye symptoms and/or cross-eyed
  • Hypertelorism (widely spaced eyes)
  • Craniosynostosis (early fusion of the skull bones)
  • Cleft palate (hole in the roof of the mouth)
  • Bifid (split) or broad uvula (the little piece of flesh that hangs down in the back of the mouth)
  • Blue sclerae (blue tinge to the whites of the eyes)
  • Micrognathia (small chin) and/or retrognathia (receding chin)
  • Ectopia lentis (rare)
  • Retinal detachment

  • Translucent skin
  • Soft or velvety skin
  • Thin skin
  • Easy bruising
  • Abnormal or wide scarring
  • Soft skin texture
  • Milia, prominently on the face
  • Eczema
  • Poor wound healing

  • Food or environmental allergies. Learn more about allergies and LDS
  • Asthma/chronic sinusitis (swelling of the lining of the sinuses)
  • Gastrointestinal inflammatory disease
  • Eosinophilic esophagitis

  • Hollow organs such as intestine, uterus, and spleen prone to rupture
  • Hernias
  • Dural ectasia (widening/ballooning of the membrane that surrounds the spinal cord)
  • Developmental delay (rare)
  • Chronic pain. Learn more about chronic pain and LDS
  • Pregnancy and postpartum complications, including an increased risk of aortic and arterial dissection and uterine rupture
  • Spontaneous pneumothorax (collapsed lung)

It is important to note that while these symptoms have been found in people with Loeys-Dietz syndrome, they may not be observed in all LDS patients, they do not concretely lead to an LDS diagnosis, and they may also be found in other connective tissue disorders

If you or someone you know is experiencing some of these symptoms and suspects LDS is the cause, you can be clinically evaluated and genetically tested for Loeys-Dietz syndrome. Find out how to get started and receive a diagnosis

About Loeys-Dietz Syndrome. Loeys-Dietz Syndrome Foundation. (n.d.). Retrieved October 11, 2022, from https://www.loeysdietz.org/en/medical-information/#diagnosis 

 

Johansen, H., Velvin, G., Fugl-Meyer, K., & Lidal, I. B. (2021). Adults with Loeys-Dietz syndrome and Vascular Ehlers-Danlos Syndrome: A cross-sectional study of life satisfaction. Journal of Rehabilitation Medicine. https://doi.org/10.2340/jrm.v53.572 

 

Loeys, B. L., & Dietz, H. C. (2008, February 28; updated 2018 March 1). Loeys-Dietz Syndrome. GeneReviews. Retrieved October 11, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1133/. 

 

Longmuir, S., Winter, T., Gross, J., & Boldt, H. (2014). Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus, 18(3), 288–290. https://doi.org/10.1016/j.jaapos.2013.12.013 

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