Synonyms
Bardet-Biedl syndrome, Laurence-Moon syndrome, LMBBS
Estimated occurrence
8-55: 1,000,000 inhabitants. These figures are uncertain and the prevalence differs in different populations. It is estimated that 1-4 children with LMBBS are born annually in Sweden. The disorder affects both sexes.
Etiology
Unknown. Genetically determined. Changes have been found in six chromosomes with different mutations in different families. LMBBS is an autosomal recessive disorder.
General symptoms
Symptoms may vary but the core symptoms are retinal changes, extra fingers and/or toes, obesity, underdevelopment of the male reproductive organs (hypogenitalism) and low concentrations of sexual hormones (hypogonadism), renal changes, mental retardation and coordination difficulties.
Orofacial/odontological symptoms
Tooth anomalies may occur, such as lack of anlage for one or more teeth (hypodontia), small/thin teeth and short tooth roots. Snoring is common. Impaired oral motor function occurs and may cause speech and eating difficulties, as well as drooling.
Orofacial/odontological treatment
- Problems in managing tooth brushing justify extra preventive dental care and brushing with an electric toothbrush may be helpful.
- An orthodontist should be consulted when the child is between the ages of 7 and 9 in order to determine whether there are any dental or bite anomalies and whether corrective treatment is necessary.
- Extra care is recommended in orthodontic treatment of patients with short tooth roots.
- Snoring problems should be investigated by a physician in cases of suspected sleep apnea (frequent breathing pauses during sleep).
- Oral motor training may be required in cases of eating difficulties, speech impairment and drooling
Sources
The rare disease database of the Swedish National Board of Health and Welfare.
MHC-basen - Mun-H-Center's database of orofacial manifestations in rare disorders.
Ågrenska's Newsletter (Swedish)
