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Genetic and Rare Diseases Information Center (GARD)

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Larsen syndrome


Other Names for this Disease
  • Autosomal dominant Larsen syndrome
  • LRS
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Overview



What is Larsen syndrome?

What are the signs and symptoms of Larsen syndrome?

How is Larson syndrome inherited?


What is Larsen syndrome?

Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene.[1][2] Management may include surgeries (especially for hip dislocation), and physiotherapy.[1]
Last updated: 3/31/2014

What are the signs and symptoms of Larsen syndrome?

The signs and symptoms of Larsen syndrome vary from person to person, but may include the following:[3]
  • Joint dislocation (especially of the hips, knees, and elbows)
  • Hypermobile joints
  • Flat, rectangular face
  • Depressed nasal bridge
  • Prominent forehead
  • Widely spaced eyes (hypertelorism)
  • 'Spatula-like' thumbs
  • Long fingers with broad ends and short nails
  • Short arms
  • Cleft palate
  • Clubfoot
  • Curved spine
  • Short stature
  • Breathing problems in infancy (due to soft cartilage in the airway)
  • Cardiovascular (heart) anomalies
Last updated: 3/31/2014

How is Larson syndrome inherited?

Larson syndrome is inherited in an autosomal dominant manner.[1][4] A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person.

While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism.[4] This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive.[2]

Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.[4][1][2]
Last updated: 3/31/2014

References
  1. Stephen Robertson. Autosomal dominant Larsen syndrome. Orphanet. July, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=503. Accessed 3/31/2014.
  2. Larsen syndrome. Genetics Home Reference. September, 2011; http://ghr.nlm.nih.gov/condition/larsen-syndrome. Accessed 3/31/2014.
  3. Wiedemann HR, Kunze J, Grosse FR. Clinical Syndromes. 3th ed. Italy: Mosby-Wolfe; 1997..
  4. Stephen Robertson. FLNB-Related Disorders. GeneReviews. October 17, 2013; http://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 3/31/2014.