Freeman-Sheldon syndrome , FSS (skrót)
whistling-face syndrome dysplasia craniocarpotarsalis latin

Freeman-Sheldon syndrome has been described as a type of congenital myopathy.

General health maintenance should be the therapeutic emphasis in Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome can be inherited as an autosomal dominant genetic trait.

Malformations of the hands and feet are also characteristic of Freeman-Sheldon syndrome.

It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome (a congenital, heritable affection of the face, the hands, the feet and some joints)

Due to the abnormal muscle physiology in Freeman-Sheldon syndrome, therapeutic measures may have unfavourable outcomes.

DA2A (Freeman-Sheldon syndrome) is the most severe of the three, with more abnormalities and greater resistance to therapy.

Several syndromes are related to the Freeman-Sheldon syndrome spectrum, but more information is required before undertaking such nosological delineation.

Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.

Whistling face syndrome (Freeman-Sheldon syndrome)

Freeman-Sheldon syndrome is a type of distal arthrogryposis, related to distal arthrogryposis type 1 (DA1).

Operative measures should be pursued cautiously, with avoidance of radical measures and careful consideration of the abnormal muscle physiology in Freeman-Sheldon syndrome.

Distal arthrogryposis type 2A (DA2A) was originally described by Freeman and Sheldon in 1938, see Freeman-Sheldon syndrome.

The symptoms of Freeman-Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis, and walking difficulties.

In March 2006, Stevenson et al. published strict diagnostic criteria for distal arthrogryposis type 2A (DA2A) or Freeman-Sheldon syndrome.

I was always strong on eponyms, too-like Marfan syndrome, Freeman-Sheldon syndrome, Down syndrome, Tay-Sachs disease, etc.

They sequenced four individuals with Freeman-Sheldon syndrome (FSS) (OMIM 193700), a rare autosomal dominant disorder known to be caused by a mutation in the gene MYH3.

In 1996, more strict criteria for the diagnosis of Freeman-Sheldon syndrome were drawn up, assigning Freeman-Sheldon syndrome as distal arthrogryposis type 2A (DA2A).

Life expectancy among people with developmental disabilities as a group is estimated at 20 years below average, although this is improving with advancements in adaptive and medical technologies, and as people are leading healthier, more fulfilling lives, and some conditions (such as Freeman-Sheldon syndrome) do not impact life expectancy.