The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Synonyms
Bardet-Biedl syndrome, Laurence-Moon syndrome, LMBBS
ICD-10
Q87.8
Estimated occurrence
5 – 100: 100 000 inhabitants
Etiology
Unknown. Genetically determined. Changes have been found in six chromosomes with different mutations in different families. LMBB syndrome 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 tooth buds 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
- Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
- Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
- 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.
The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
The Newsletter of the Ågrenska Center.
