MECP2-duplication syndrome

Synonym

Trisomi Xq28, Lubs-Arena syndrome, X-linked intellectual disability, Lubs type, X-linked intellectual disability-hypotonia-recurrent Infections syndrome. 

Codes

ICD-10: Q99.8

ORPHA: 1762

Estimated occurrence

Very rare.

Etiology

MECP2 is a gene on the long arm of the X chromosome, band 28. This can be termed an Xq28 duplication. Xq28 duplication means that the body’s cells have extra genetic material from one of the 46 chromosomes, the X chromosome.                   

General symptoms

Boys with this syndrome have in the majority of cases symptoms that are manifested more than is the case with girls with the same syndrome. Each person has their own individual preconditions and medical needs. Common symptoms are low muscle tone (hypotonia) in children, progressive spasticity and epilepsy. Many have recurring respiratory tract infections/pneumonia. Intellectual disability/learning difficulties, autism and delayed linguistic development are common.

Orofaciala/odontological symptoms

Bite abnormalities occur in a number of cases and are probably a result of progressive hypotonic orofacial musculature. The parents often report delayed tooth eruption and teeth grinding. Developmental enamel defects are common. Medication can in certain cases cause dryness of the mouth. Dryness of the mouth is a risk factor for caries and infection in the mucosal membrane in the mouth, and could affect swallowing ability. Oral motor skills are often affected, which could impact on speech and communication, feeding skill development and saliva control. Distinctive facial features are associated with the diagnosis.

Orofacial/odontological behandling

  • It is important that individuals with MECP2-duplication syndrome receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • Tooth grinding should be followed up, and be managed with a splint when necessary.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • Speech, language and communication training is often warranted.

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 Center.
Updated: 2018-06-05 16:27