Larsen Syndrome: Description And Symptoms
Larsen Syndrome is a rare, autosomal dominant, genetically heterogeneous disorder with a prevalence rate of one in every 100, 000 individuals born. Larsen syndrome is an osteochondrodysplasia, a medical term for developmental disorders of bone and cartilage, that is characterized by big-joint dislocations and craniofacial abnormities.
The symptoms range from congenital dislocations of the joints (hip, knee, and elbow), club feet, scoliosis and cervical kyphosis, or spinal abnormalities, and the presence of short, broad, spatula-shaped distal phalanges of the thumbs. The craniofacial abnormities include: abnormally large forehead, flat nasal bridge and mid-face, and ocular hypertelorism.
A midline cleft palate, short stature, wide-spaced eyes and conductive loss of hearing is also presented in most cases. Foot deformities and the presence of supernumerary carpal and tarsal bones is another common symptom of Larsen Syndrome, especially during early childhood years.