Reports from the MHC data base
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.
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.
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 is an increased risk of is sleep apnoea (frequent suspension of breathing while asleep).
- 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.
- 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.