Marfanoid Hypermobility Syndrome

Clinical Features

Walker et al. (1969) described a 27-year-old man with a marfanoid habitus, pectus excavatum, and fifth finger camptodactyly. There was no evidence of aortic or eye involvement although a systolic click was heard over the heart and mesodermal anomalies were found in the angle of the anterior chamber. Very marked joint hypermobility and excessive stretchability of the skin suggested Ehlers-Danlos syndrome (EDS; see 130000), but no other features of that condition were present. The patient reported by Goodman et al. (1965, 1969) as having both EDS and Marfan syndrome probably had this disorder, and other possible examples are the cases of Roederer (1951) and Coventry (1961). Little information on the genetics was available. Relatives of Goodman's patient were said to be similarly affected. McKusick (1974) restudied the patient of Walker et al. (1969) and found that he had aortic regurgitation. Valvular heart disease occurred also in Goodman's family. The patient reported by Walker et al. (1969) died of dissecting aneurysm of the aorta in 1976.

Cotton and Brandt (1976) reported 2 male patients with marfanoid body habitus, cutaneous hyperextensibility, and atrophic 'cigarette paper' scars; neither had ectopia lentis. The first patient was a 22-year-old black man, who had mild joint hypermobility and an aneurysm of the proximal aorta due to cystic medionecrosis for which he underwent replacement surgery; the second patient was a 19-year-old white man, who had generalized ligamentous laxity and a 'floppy' mitral valve. In both patients, the disorder appeared to have arisen de novo. Cotton and Brandt (1976) suggested that cardiovascular disease might be a significant feature of the marfanoid hypermobility syndrome.

Handa et al. (2001) reported a 50-year-old Indian man with the unusual association of classic cutaneous features of Ehlers-Danlos syndrome, a marfanoid habitus, bladder diverticula, and multiple emphysematous bullae. He had a history of hyperextensible skin and joints, progressive dyspnea, and obstructive urinary voiding symptoms since childhood. The skin was of normal consistency, but could be stretched for several centimetres and on release sprang back into its former position. There were cigarette paper scars on the right anterolateral aspect of the thigh, elbows, and shoulders. The subcutaneous fat was reduced. Ophthalmologic examination did not reveal ectopia lentis and an echocardiogram revealed mild tricuspid regurgitation. A chest x-ray showed multiple emphysematous bullae with collapse of lung parenchyma. Abdominal ultrasound showed bladder diverticula, which was confirmed by cystography. Histologic examination of the skin showed a normal epidermis with dermal edema, decreased collagen fibers, and increased fragmented elastic fibers. The findings in this patient suggested that lung and bladder involvement may also be a part of this syndrome.