The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Synonyms
5p deletion syndrome.
ICD-10
Q93.4
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 of orofacial manifestations in rare diseases.
The Newsletter of the Ågrenska Center
