Larsen syndrome

[4] This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton.

Filamin B has been found to be expressed in human growth plate chondrocytes, which are especially important in vertebrae segmentation and skeleton morphogenesis.

Symptoms such as syndactyly, cleft palate, short stature, and cardiac defects are seen more commonly in individuals with the autosomal recessive form of the disorder.

Prenatal diagnosis is extremely important, as it can help families prepare for the arrival of an infant with specifics necessities.

Ultrasound can capture prenatal images of multiple joint dislocations, abnormal positioning of legs and knees, depressed nasal bridge, prominent forehead, and club feet.

[1] Orthopedic surgery can be performed to correct the serious joint defects associated with Larsen syndrome.

Posterior cervical arthrodesis has been performed on patients with cervical kyphosis, and the results have been successful[4] Propranolol has been used to treat some of the cardiac defects associated with Marfan's syndrome, so the drug also has been suggested to treat cardiac defects associated with Larsen syndrome.

Feet of a person with Larsen syndrome: Note the small size and joint abnormalities.