Reports from the MHC data base
1-2:100 000 live births
Usually damage to the short arm of chromosome 16 (16p 13.3) but damage on chromosome 22 (22q13) has also been detected. The genes affected (CBP and EP300) are crucial for the development of different organ systems during fetal life. Diagnosis made on the basis of symptoms, and in about one half of individuals this can be confirmed with DNA analysis.
Characteristic for the diagnosis is short stature even from birth, broad thumbs and big toes turned outwards and a prominent nose. Vertebral deformations as well as anomalies of the sternum and ribs are often visible on X-ray. Deformation of internal organs such as cardiac and urinary tract defects is common and so are hyper mobility of joints, funnel chest, scoliosis and lordosis. Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection. Intellectual disability and delayed motor development are included in the clinical picture and many have difficulties with concentration and hyperactivity.
There are characteristic facial features that become more distinct with age. Small jaws and a high, arched palate are frequent, as are crowded teeth. Some teeth may curve outwards, a condition known as "talon cusp". Many of these children have eating difficulties and delayed speech and language development. Drooling may occur.
- 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 could be relevant in cases of difficulties with eating, speech or drooling.
- Speech, language and communication training are often justified.
- Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center.
- Caution should be shown in cases of intubation for anaesthetized dental care, owing to the possibility of instability in the cervical vertebral column.
- When treating medically compromised patients always contact their doctors 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.