Laurence-Moon syndrome

Laurence-Moon syndrome, abbreviated LNMS or LMS, is a rare inherited condition in which problems of the eyes, the brain and the hormone-producing pituitary gland occur together. The National Organization for Rare Disorders describes it as a genetic condition affecting several body parts, with a tendency to short stature and obesity. People with it typically lose vision gradually through retinitis pigmentosa, which begins with night blindness and can progress to tunnel vision. Many have cerebellar ataxia with spasticity, so that walking and speech are affected, along with mild to moderate learning difficulties. A small anterior pituitary gland can lower sex hormone levels and reduce fertility. Hand and foot differences such as webbed digits and short digits, and taurodont teeth, are also reported. Most cases are attributed to mutations in the PNPLA6 gene and the condition follows an autosomal recessive pattern of inheritance. It was historically merged with Bardet-Biedl syndrome as Laurence-Moon-Bardet-Biedl syndrome, but the same source treats the two as distinct, since extra fingers or toes and kidney problems point to Bardet-Biedl syndrome. Management is supportive and follows each person's symptoms, with physical therapy for ataxia and spasticity.