Search for a rare disease
Other search option(s)
Laurence-Moon syndrome
Disease definition
A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.
ORPHA:2377
Classification level: DisorderSummary
Epidemiology
The prevalence is unknown.
Clinical description
The neurological manifestations include intellectual deficit and ataxia that lead to progressive spastic paraplegia by early adulthood. The ophthalmologic manifestations consist of retinal mottling due to thinning of the retina (retinitis pigmentosa) leading to progressive optic atrophy and finally blindness. Hypogenitalism is present at birth due to hypogonadotrophic hypogonadism. Growth retardation has also been described.
Etiology
Mutations in the BBS5 gene (responsible for Bardet-Biedl syndrome, BBS) and in the MKKS gene (responsible for McKusick-Kaufman syndrome) have been identified in some patients. As a result, LMS is sometimes referred to as Laurence-Moon-Biedl syndrome or Laurence-Moon-Bardet-Biedl syndrome. The differences between BBS and LMS have not been clearly defined.
Differential diagnosis
The absence of obesity and the presence of polydactyly in BBS may allow the two diseases to be distinguished but the occurrence of these two manifestations in BBS is variable. LMS, like McKusick-Kaufman syndrome, may therefore be another variant of BBS but, as no genetic tests were conducted on the initial LMS patients, the relationship between these diseases remains unclear.
Genetic counseling
The syndrome is transmitted as an autosomal recessive trait.
Management and treatment
There is no treatment for LMS and management is supportive.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Nederlands (2006) Português (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information