Patient with suspected Connective Tissue Dysplasia

A referral to clinical genetics is recommended if your patient has clinical features, or family history, suggestive of a connective tissue dysplasia that would predispose to significant cardiovascular complications such as:

• Young onset of thoracic aortic enlargement, vascular dissection or extensive varicosities

• Ectopia lentis

• Extensive widened atrophic scars and poor would healing/ recurrent large hernias

• Severe scoliosis

• Personal/family history of organ rupture

• Recurrent pneumothoraces 

 * As the most significant and life-threatening complication of many CTD's is aortic dissection,      please arrange an echocardiogram prior to the genetic appointment.  

Generalised Joint Hypermobility Disorder is a clinical diagnosis and no specific genetic testing is available. There are well established diagnostic criteria for hypermobile EDS and a genetic consultation is not necessary for diagnosis. 

In order to minimise unneccesary cost and delay in managment, we recommend that you refer your patient to a local rheumatologist, rehabilitation physician or sports medicine practitioner. These specialists can diagnose GJH and also provide management advice, which geneticists do not do.