Laurence Moon Bardet Biedl syndrome is a rare recessive disorder with mutation in 61 oci found in communities with high risk of family marriage. Family marriage risk characterized by: Central obesity Reduced vision Mental retardation Deafness Hypogonadism Delayed devolvement and learning difficulty Postaxial polydactyly Renal dysfunction Increased risk of renal carcinoma In examination patient has: Moon face Bilateral gynaecomastia Small penis Disability in bones Undescended testes Retinitis pigmentosa There is no definite treatment. Early diagnosis, symptomatic, supportive treatment, rehabilitation can reduce disability.
Other measures are dietary restrictions, oral hypoglycemic agents, testosterone supplements. Relatives of the patient should be screened for renal cell carcinoma. Share your opinions.
