Larsen syndrome Disease

About Gene:

Larsen syndrome is a congenital disease that results in faulty collagen formation and therefore hinders the development of the bones.

Number of Patients: 1

Disease Causing Genes:

FLNB HLA-DRB1 LRSL IL1B IL4 B3GAT3 CHST3 GZF1

Sign and Symptoms:

  1. Deformed face
  2. Multiple joint dislocation
  3. spine abnormalities
  4. neck instability
  5. Osteoarthritis

Diagnosis:

(1) Medical history collection (2) Physical examination (3) Hematology test (4) Radiological Survey

Preventions:

Genetic counselling

Treatment:

Symptomatic treatment : - empirical treatment of neonatal sepsis - manual treatment exercise - surgical joint replacement