Laurence-Moon-Bardet-Biedl Syndrome

Reports from the MHC data base

Report from the Questionnaire (PDF)
Report from the Observation Chart (PDF)

Synonyms

  • Bardet-Biedl syndrome
  • Laurence-Moon syndrome
  • LMBBS

Codes

ICD-10: Q87.8
ORPHA: 110

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 Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-13 08:06