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Larsen syndrome

What are the symptoms?

The wide range of features associated with Larsen syndrome include abnormalities of the growth centres and length of the bones. This leads to short stature, Scoliosis, short stubby fingers, broad thumbs, short metacarpals (the bones between the wrist and the base of the fingers) and foot deformities. Individuals may also have abnormalities of the cervical spine (the seven bones of the top end of the backbone that form the neck) leading to cervical kyphosis (forward curving of the spine); the thoraco-lumbar spine (the twelve bones below the cervical spine together with the five bones of the lower back) leading to spina-bifida and scoliosis; cleft lip and/or palate; tracheomalacia (softening of the cartilages in the trachea); difficulties in swallowing and breathing; and poorly developed kidneys (see entry, Kidney disease), ureters and urinary bladder. Mixed hearing loss (see entry, Deafness) has been reported.

There is variation in the severity of the syndrome. A rare lethal form has been described but is likely to be a different disorder.

View Background Background  |  What are the causes? View What are the causes?

Medical text written October 2003 by Contact a Family. Approved October 2003 by Professor M Patton, Professor of Medical Genetics, St George's Hospital Medical School, London, UK.

 

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