Achard syndrome

Achard Syndrome

Achard syndromeDescription:

Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet.

The Achard syndrome is a well-defined clinical entity consisting of widespread dysostoses and increased ligament laxity. The bony involvement appears most consistently in the tubular bones of the hands and feet, the mandible and the calvarium, but may also be noted elsewhere in the body. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity.

It is defined as a condition in which the syndrome consists of receding lower jaw, joint laxity of the hands and feet and arachnodactyly. There is a hyper mobility of the joints along with the subluxations. There is increased lateral movement of the patellas. There is also increased ligament laxity and is not included under the distinct entity.

Symptoms:

Symptoms include small thumbs; joint laxity in hands and feet, mandibular (lower jaw) rami is short and brachycephaly (flat-head syndrome).

Other Symptoms include:

  • Small thumbs.
  • Brachycephaly.
  • Slender body.
  • Long body.

Causes and Risk Factors:

Achard syndrome is inherited as an autosomal dominant trait of chromosome 15. It is caused by mutations in gene fibrillin-1, producing changes in elastic tissues, especially of the aorta, eye, and skin. Mutations of fibrillin-1 also cause overgrowth of long bones. In 85% of patients with this disease, the family history confirms Marfan syndrome in one parent as well. In the remaining 15%, a negative family history suggests a fresh mutation, possibly from advanced paternal age.

Treatment Options:

There is no specific treatment for this disorder.

For both children and adults, appropriate medical care, accurate information, and social support are key to living with the disease. Genetic counseling may also be helpful in understanding the disease and its potential impact on future generations.

In young patients with early dilation of the aorta, prompt treatment with beta-adrenergic blockers may decrease ventricular ejection and protect the aorta. Extreme dilation requires surgical replacement of the aorta and the aortic valve. Steroids and sex hormones have been successful, especially in girls in inducing precocious puberty and early epiphyseal closure to prevent abnormal adult height.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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