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Laurence-Moon-Bardet-Biedl syndrome
Codes
ICD-10: Q87.8
ORPHA: 110
General information
Estimated occurrence
Uncommon diagnosis. Thirteen known cases in Sweden (2004).
Cause
Unknown. Genetically determined. Changes have been found in six chromosomes with different mutations in different families. Laurence-Moon-Bardet-Biedl syndrome (LMBB) 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, intellectual disability and coordination difficulties.
Synonyms
Bardet-Biedl syndrome, Laurence-Moon syndrome
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.
Advice on follow-up and 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.