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
Illustrations: Anders Nyberg
Estimated occurrence
8:1 000 000 inhabitants.
Etiology
Not completely known. The majority has a defect on the NSD1-gene on chromosome 5. A variety of chromosomal defects have been reported such as micro deletion and translocation between chromosome 5 and 8. The inheritance pattern is autosomal dominant but in most cases the syndrome is caused by a new mutation.
General symptoms
These children are long at birth and remain large throughout their lives, with a big head, hands and feet. Muscle laxity is common. Many have delayed development, speech- and language impairment and learning disabilities. Some have congenital heart defects. Difficulties with concentration, hyperactivity and autistic traits may be found. Immunodeficiency during childhood is common. Other symptoms associated with the diagnosis are eye defects, defects in the urinary tract and scoliosis.
Orofacial/odontological symptoms
Characteristic facial features are associated with the diagnosis. These are more pronounced in children than in adults. Sucking difficulties are common in newborns. Delayed oral motor development and muscle weakness may lead to orofacial dysfunctions such as difficulties with chewing, speech and drooling. The palate is often high and narrow. Enamel defects may be seen and some are missing one or more tooth buds. Narrow airways may result in snoring problems, and there an increased risk of is sleep apnoea (frequent suspension of breathing while asleep).
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.
- Orofacial therapy and oral motor skills training and stimulation in cases of difficulties with eating, speech or drooling may be relevant.
- Speech, language and communication training are often justified.
- Snoring problems should be followed up by a physician.
- When treating medically compromised patients always contact their doctor for medical advice.
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 Newsletter from the Ågrenska center.
