Cri-du-Chat Syndrome

Reports from the MHC data base

Report from the Observation Chart (PDF)

Synonyms

5p deletion syndrome

Codes

ICD-10: Q93.4
ORPHA: 281

Estimated occurrence

1:50 000 live births. More common in girls.

Etiology

Deletion of chromosomal material on chromosome 5.

General symptoms

Newborns have a weak, high-pitched cry attributable to a small larynx. Mental retardation, delayed motor skill development and muscle laxity may be present to varying extents. Sensitivity to infection is common. One-third of these children have congenital heart defects.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. Bite abnormalities commonly occur, most often an open bite in the region of the front teeth and an overbite. Oral motor function is commonly affected and the majority has sucking difficulties in infancy, eating disorders and drooling problems. Learning disability and reduced oral motor skills lead to communication problems.

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.
  • Training in oral motor skills in cases of eating disorders, speech difficulties and drooling may be relevant.
  • Speech, language and communication training are often required.
  • When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc.).

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: 2017-09-12 13:58