Loeys Dietz syndrome

Which are the symptoms of Loeys Dietz syndrome?

See the worst symptoms of affected by Loeys Dietz syndrome here

Symptoms of Loeys Dietz Syndrome

Loeys Dietz Syndrome (LDS) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the genes that are responsible for the production of proteins involved in the formation and maintenance of connective tissues. This syndrome is characterized by a wide range of symptoms that can vary in severity from person to person.

Cardiovascular Symptoms:

One of the most significant features of Loeys Dietz Syndrome is the presence of cardiovascular abnormalities. Individuals with LDS may experience aortic aneurysms, which are bulges or weak spots in the walls of the aorta, the main artery that carries blood from the heart to the rest of the body. These aneurysms can lead to life-threatening complications such as aortic dissection, where the layers of the aorta separate, causing severe internal bleeding. Other cardiovascular symptoms may include mitral valve prolapse, which is the improper closing of the valve between the left atrium and left ventricle of the heart, and arterial tortuosity, where the blood vessels become twisted and elongated.

Craniofacial Symptoms:

Individuals with Loeys Dietz Syndrome may exhibit various craniofacial abnormalities. These can include a cleft palate, a condition where the roof of the mouth does not fully close during development, resulting in a gap. Other craniofacial features may include widely spaced eyes (hypertelorism), a small jaw (micrognathia), a flat or broad forehead, and a highly arched palate.

Skeletal Symptoms:

LDS can also affect the skeletal system, leading to various skeletal abnormalities. These may include joint hypermobility, where the joints have an unusually large range of motion, scoliosis, which is an abnormal curvature of the spine, and pectus deformities, such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest). Additionally, individuals with LDS may have long, slender fingers and toes (arachnodactyly).

Soft Tissue Symptoms:

Loeys Dietz Syndrome can affect the soft tissues in the body, leading to certain symptoms. These may include easy bruising and scarring, as well as thin, translucent skin that is prone to tearing. Some individuals with LDS may also have hernias, which occur when an organ or tissue pushes through a weak spot in the surrounding muscle or connective tissue.

Other Symptoms:

There are several other symptoms that can be associated with Loeys Dietz Syndrome. These may include developmental delays, intellectual disability, and behavioral issues. Some individuals may have vision problems, such as nearsightedness or dislocated lenses. Additionally, there may be gastrointestinal issues, such as gastroesophageal reflux disease (GERD) or intestinal malrotation, where the intestines are not properly positioned during development.

Conclusion:

Loeys Dietz Syndrome is a complex genetic disorder that affects multiple systems in the body. The symptoms can vary widely, and not all individuals with LDS will experience the same set of symptoms or exhibit them to the same degree. Early diagnosis and management of the condition are crucial to prevent or minimize complications associated with cardiovascular abnormalities. Genetic counseling and regular medical follow-ups are recommended for individuals with Loeys Dietz Syndrome to ensure appropriate care and support.

by Diseasemaps

A bifid uvula, tortuous arteries, high palate, aortic root and valve issues are some of the key traits of Loeys-Dietz Syndrome or LDS.

2/6/18 by Helene 1600

Vary greatly. Mine is severe arthritis, and muscle, joint and tendon pain (common with connective tissue disease) Also common is arterial dissection. Waiting on an echo cardiogram and CTA to check for aneurisms.

5/12/19 by Sherri 800

Copied from loeysdietz.org Four main characteristics suggest the diagnosis of LDS. These features are not usually seen all together in other connective tissue disorders as major characteristics. These symptoms include: Aneurysms (widening or dilation of arteries), which can be observed by imaging techniques. These are most often observed in the aortic root (base of the artery leading from the heart) but can be seen in other arteries throughout the body Arterial tortuosity (twisting or spiraled arteries), most often occurring in the vessels of the neck and observed on imaging techniques Hypertelorism (widely spaced eyes) Bifid (split) or broad uvula (the little piece of flesh that hangs down in the back of the mouth) 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 Craniosynostosis (early fusion of the skull bones) Cleft palate (hole in the roof 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 Scoliosis (s-like curvature of the spine) Cervical-spine instability (instability in the vertebrae directly below the skull) Joint laxity Pectus excavatum (chest wall deformity that causes the sternum and breast bone to grow inward) / Pectus carinatum (chest wall deformity that pushes the sternum and breast bone out) Osteoarthritis Typically normal stature Skin Translucent skin Soft or velvety skin Easy bruising Abnormal or wide scarring Soft skin texture Hernias Cardiac 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) Ocular Myopia (nearsighted) Eye muscle disorders Retinal detachment: The retina is the light-sensitive layer of tissue that lines the inside of the eye and sends visual messages through the optic nerve to the brain. When the retina detaches, it is lifted or pulled from its normal position. If not promptly treated, retinal detachment can cause permanent vision loss. Other Food or environmental allergies Gastrointestinal inflammatory disease Hollow organs such as intestine, uterus and spleen prone to rupture

5/12/19 by Derek 4050

Arthritis, connective tissue disorders, aneurysms, Scoliosis, Hernias, blue tinge to whites of eyes, asthma, long limbs, deviated septum etc.

5/14/19 by Glenn 2500

Aortic dissection Spinal defects Spondolythesis scoliosis Cervical spine issues Osteoporosis Get rid of the aortic dissection because it is immediately life threatening and surgical repair leads to disabilities that alter the patient life or the rest of their life

5/15/19 by Vicki 1800

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