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About Loeys-Dietz Syndrome

Clinical Characteristics

LDS represents a wide spectrum of symptoms in which individuals with the syndrome present with various combinations of features ranging from mild to severe in presentation. The most common findings involve these body systems:

  • Cardiovascular (heart and blood vessels)
  • Skeletal (bones)
  • Craniofacial (head and face)
  • Cutaneous (skin)
  • Allergic/Inflammatory
  • Ocular (eyes)

It is important to note, however, that these findings are not observed in all patients and do not concretely lead to a diagnosis of LDS.

Categorized by system, below is a more detailed list of symptoms recorded in individuals diagnosed with Loeys-Dietz syndrome:

Craniofacial (head and face)

  • Malar hypoplasia (flat cheek bones)
  • Slight downward slant to the eyes, lazy eye 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)

Skeletal (bones)

  • Long fingers and toes
  • Contractures of the fingers
  • Clubfoot or skewfoot deformity
  • Flatfoot
  • Scoliosis (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
  • Typically normal stature

Skin

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

Cardiovascular

  • 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

Other

  • Food or environmental allergies
  • 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)

Medical information both provisioned by The Loeys-Dietz Syndrome Foundation © 2020 and retrieved from: Loeys B, Dietz H. The Loeys-Dietz Syndrome. GeneReviews [Internet]. 2018

Last Updated January 31, 2020