Larsen syndrome

Overview

Larsen syndrome is a rare inherited condition caused by a generalised connective tissue disorder during embryological formation (the early stages when the unborn baby is in the womb). It is characterised by multiple dislocations of the major joints (wrists, elbows, hips and knees), characteristic facial features including a flat nasal bridge, wide-spaced eyes and prominent forehead, and abnormalities of the growth of the bones. Abnormalities of bone growth lead to short stature, scoliosis, or kyphosis (curvature of the spine, particularly in the neck region), short fingers, broad thumbs, short metacarpals (the bones between the wrist and the base of the fingers) and foot deformities. Individuals may also have cleft lip and/or palate, tracheomalacia (softening of the cartilages in the trachea), difficulties in swallowing and breathing, and poorly developed kidneys, ureters and urinary bladder. Mixed hearing loss has also been reported. There is variation in the severity of symptoms, so management of the condition is tailored according to a person’s specific features. It usually requires a coordinated multidisciplinary approach involving the family, physiotherapists, orthopaedic surgeons, speech therapists, and clinical geneticists.

Credits

Medical text approved March 2014 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for Larsen syndrome in the UK.

Families can use Contact’s freephone helpline for advice and information. To meet other families with disabled children, join Contact’s closed (private) Facebook group.