Ehlers-Danlos syndrome, fibronectinemic type

Ehlers-Danlos syndromes (EDS) are a group of inherited disorders that affect the connective tissues. People with this type, known as fibronectinemic type or type X EDS, may have joint hypermobility and increased skin extensibility. A unique feature of this condition is the presence of platelet dysfunction that is associated with a fibronectin abnormality. This type has been described in only one family so far. The onset of symptoms is usually during adolescence or early adulthood, between the ages of 13 and 25 years. The condition is inherited in an autosomal recessive manner, meaning that two copies of the abnormal gene (one from each parent) are required for the condition to be expressed.

Common signs reported in the definition include joint hypermobility (loose joints) and hyperextensible (stretchy) skin. A key distinguishing feature of this type of EDS is platelet dysfunction, which can affect blood clotting. Detailed symptom descriptions are limited due to the rarity of the condition.

Ehlers-Danlos syndrome, fibronectinemic type, is caused by a fibronectin abnormality. The condition is inherited in an autosomal recessive pattern, which means that a person needs to inherit two copies of the defective gene (one from each parent) to develop the disorder. Specific genetic details and risk factors are not yet fully described in the available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition. Because it has been reported in only one family so far, further studies are needed to better understand the disorder.