Cri Du Chat syndrome

Codes

IDC-10: Q93.4

ORPHA: 281

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
2:100,000 live births. More common in girls.
Cause
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.
Synonyms
5p deletion syndrome.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. Small lower jaw and narrow palate is common as well as 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.

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.
  • 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

Rare diseases
Updated: 0001-01-01 00:00