AREDYLD syndrome

AREDYLD Syndrome

AREDYLD Syndrome (pronounced: ah-red-yld sin-drome) is a rare genetic disorder characterized by a combination of heart defects, facial abnormalities, and developmental delays. The term AREDYLD stands for Armfield syndrome, Renal dysplasia, Ectodermal dysplasia, Diabetes mellitus, Y-linked, Limb defects, and Delayed growth.

Etymology

The term AREDYLD is an acronym derived from the main features of the syndrome. It was first described by Armfield et al. in 1980.

Symptoms and Signs

The symptoms of AREDYLD Syndrome can vary greatly from person to person. However, common features include:

Heart defects: These can range from minor to severe and may require surgery.
Facial abnormalities: These can include a broad forehead, wide-set eyes, and a small chin.
Developmental delays: These can affect both physical and mental development.
Renal dysplasia: This refers to abnormal kidney development.
Ectodermal dysplasia: This refers to abnormalities in the development of the skin, hair, nails, teeth, and sweat glands.
Diabetes mellitus: This is a condition that affects the body's ability to regulate blood sugar levels.
Limb defects: These can include missing or malformed limbs.
Delayed growth: This can result in a shorter stature and slower development than peers.

Causes

AREDYLD Syndrome is caused by mutations in the TRPS1 gene. This gene provides instructions for making a protein that regulates the growth and development of certain types of cells.

Diagnosis

Diagnosis of AREDYLD Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment for AREDYLD Syndrome is symptomatic and supportive. It may include surgery for heart defects, physical therapy for limb defects, and medication for diabetes.

External links

Medical encyclopedia article on AREDYLD syndrome
Wikipedia's article - AREDYLD syndrome

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AREDYLD syndrome