Definitions for words in orange can be found in the glossary
- LS was first described as a syndrome in 1950 Dr. Loren J. Larsen and his associates in San Francisco, CA.
- The description of LS was first published in The Journal of Pediatrics, Vol. 37, No 4, Pages 574-581, October, 1950: “Multiple Congenital Dislocations Associated with Characteristic Facial Abnormality.”
- LS is considered to be an inherited genetic condition and is classified as a skeletal dysplasia- an abnormal development of the skeletal system.
- Congenital deformities most commonly seen in LS patients include dislocations of major joints including the elbows, hips, and knees.
- Common foot deformities may include club foot or equinovarus or equinovalgus deformities of the feet.
- Hand deformities include long-cylindrical-shaped fingers and and a larger than average, rounded thumb referred to as spatulate.
- Identifying facial features commonly include wide-spaced eyes, prominent forehead, and a depressed nasal bridge collectively described as flattened facies.
- People with LS are usually short-statured- oftentimes below 5 feet tall- when full growth is reached.
- LS can manifest in each patient differently, even among siblings or parents and their children.
- Intellectual development is generally unaffected but there can be associated defects in the cardiovascucular, respiratory, and/or urogenital systems. Spinal defects such as kyphosis and lordosis, sometimes severe, can also occur.
- LS is believed to occur in 1 out of every 100,000 births, but incorrect diagnosis of similar conditions such as arthrogryposis )are thought to affect this estimate.