Arthrochalasia EDS

Arthrochalasia Ehlers-Danlos Syndrome Arthrochalasia Ehlers-Danlos Syndrome (aEDS) is a rare genetic disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. It is one of the subtypes of the Ehlers-Danlos Syndromes (EDS), which are a group of connective tissue disorders.

Clinical Features

Individuals with aEDS typically present with the following clinical features:

• Joint Hypermobility: This is a hallmark of aEDS, where joints can move beyond the normal range of motion. This can lead to frequent dislocations and subluxations.
• Congenital Hip Dislocation: Many individuals with aEDS are born with dislocated hips, which is a distinguishing feature of this subtype.
• Skin Hyperextensibility: The skin can be stretched further than normal and may feel velvety.
• Tissue Fragility: There is an increased tendency for bruising and scarring due to fragile tissues.

Genetic Basis

Arthrochalasia EDS is caused by mutations in the COL1A1 or COL1A2 genes, which encode the alpha chains of type I collagen. These mutations lead to defects in collagen synthesis, affecting the structural integrity of connective tissues.

Diagnosis

Diagnosis of aEDS is based on clinical evaluation, family history, and genetic testing. The presence of congenital hip dislocation, along with other characteristic features, can prompt genetic testing for mutations in the COL1A1 or COL1A2 genes.

Management

There is no cure for aEDS, and management focuses on symptomatic treatment and supportive care:

• Physical Therapy: To strengthen muscles and improve joint stability.
• Orthopedic Interventions: May be necessary for joint dislocations or severe joint instability.
• Pain Management: To address chronic pain associated with joint and tissue issues.

Prognosis

The prognosis for individuals with aEDS varies depending on the severity of symptoms. With appropriate management, many individuals can lead relatively normal lives, although they may need to avoid activities that put excessive strain on their joints.

See Also

• Ehlers-Danlos Syndromes
• Connective Tissue Disorders
• Beighton, P., et al. (1998). "Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997." *American Journal of Medical Genetics*.
• Malfait, F., et al. (2017). "The 2017 international classification of the Ehlers-Danlos syndromes." *American Journal of Medical Genetics Part C: Seminars in Medical Genetics*.

NIH genetic and rare disease info

• NIH info on Arthrochalasia EDS

Arthrochalasia EDS is a rare disease.