4 in 100,000 live births
Potocki-Lupski syndrome is caused by the duplication of part of chromosome 17 (17p11.2).
Children with Potocki-Lupski syndrome generally show late development and learning difficulties to varying degrees. Most have mild to moderate intellectual disabilities with a diagnosis of autism or autistic characteristics. Delayed motor development occurs due to reduced muscle tension. Sleeping problems with apnoea also occur, as does over-sensitivity to light and sound. Just over 50% of children with Potocki-Lupski syndrome have some kind of heart defect.
There are some typical facial characteristics associated with the diagnosis. Reduced muscle tension (hypotonus) is very common during infancy, and feeding difficulties are common. Acid reflux and vomiting often occur. Speech disorders and poor language development are seen in almost all children with this diagnosis. Some may have a high palate as well as crowded teeth.
- 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.
- When treating medically compromised patients always contact their doctor for medical advice (bleeding problems, heart diseases etc).
- Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
- Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
- The National Board of Health and Welfare’s knowledge database about rare diagnoses.
- The MHC – Mun-H-Center – database about oral health and orofacial function in rare diagnoses
- The Documentation from the Ågrenska national competence centre for rare diseases.