From the Guidelines
Laurence-Moon-Bardet-Biedl syndrome, not Laurence-Moon-Beetle syndrome, is the correct term for the rare genetic disorder characterized by multiple features including retinal degeneration, obesity, polydactyly, intellectual disability, and kidney abnormalities. This condition is associated with keratoconus, a progressive thinning of the cornea, as mentioned in the context of genetic disorders associated with keratoconus 1. The etiology of corneal ectasia, which can occur in keratoconus, may include genetic factors, chromosomal and enzyme abnormalities, and mechanical factors.
Key Features of Laurence-Moon-Bardet-Biedl Syndrome
- Retinal degeneration
- Obesity
- Polydactyly (extra fingers or toes)
- Intellectual disability
- Kidney abnormalities
- Keratoconus, a condition characterized by thinning of the cornea, which can lead to corneal ectasia
Management and Treatment
Treatment for Laurence-Moon-Bardet-Biedl syndrome focuses on managing specific symptoms, and patients require multidisciplinary care including:
- Ophthalmology for vision problems, such as retinal degeneration and keratoconus
- Endocrinology for obesity and diabetes management
- Nephrology for kidney issues
- Other specialists as needed Regular monitoring of kidney function, blood pressure, and vision is essential, as well as early intervention with educational support for cognitive issues and weight management strategies to improve quality of life 1.
Genetic Counseling
Genetic counseling is recommended for affected families to understand inheritance patterns and reproductive options, as the syndrome results from mutations in at least 24 different genes involved in the function of cellular structures called primary cilia 1.
From the Research
Characteristics of Laurence Moon Beetle Syndrome
- Laurence Moon Bardet Biedl syndrome is a rare genetic disorder with a wide range of presenting symptoms, including mental retardation, decreased visual acuity, obesity, hypogonadism, and polydactyly 2
- The syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation 3
- Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills 4
- Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus, and congenital heart disease 4
Diagnosis and Management
- The diagnosis of Laurence Moon Bardet Biedl syndrome is easily overlooked due to its rarity, with a prevalence rate of one in 125,000-160,000 reported within Europe 2
- Delayed diagnosis and inappropriate management may lead to an irreversible loss of functions, including loss of vision, cardiac problems, and renal abnormalities 2
- Early diagnosis and symptomatic management of complications as they arise remain the most important and vital step in the management of this illness 2
- A multidisciplinary team approach is necessary for adequate management of the syndrome, including psychiatry, neurology, endocrinology, and metabolic care 5
Complications and Associated Conditions
- Renal abnormalities are an additional cardinal feature of the syndrome, with some patients presenting with dilatation of the minor calyces of both kidneys 3
- Psychiatric disorders, including psychosis, can coexist with Laurence Moon syndrome, complicating clinical management 5
- Anaemia is a rare associated condition, reported in some cases of Laurence Moon Bardet Biedl syndrome 6
- Obesity and elevated cholesterol levels can further complicate treatment and management of the syndrome 5