Reports from the MHC data base
Kabuki Makeup Syndrome, Niikawa-Kuroki Syndrome
Genetic, most often new mutation
Mild to moderate developmental delay, growth retardation, skeletal anomalies, chubby finger pads and various malformations of bodily organs, such as the heart and urinary tract.
There are facial features that are characteristic for the diagnosis. Facial expression is often flattened and speech is unclear. Difficulties in the ability to suck, chew and swallow, as well as gastroesophageal reflux are common. Many have a thin and narrow upper lip and some have pits or raised blisters on the lower lip. High palate is common, as is cleft palate; cleft lip and jaw also occur. Deformities in tooth shape and number are noted in most cases; usually it is the front teeth in the upper or lower jaw that are missing. The teeth may be conical or tapered (screwdriver form). Tooth eruption may be delayed.
- 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.
- In cases of defective palate, a specialist team will be needed for follow up and treatment.
- Training in oral motor skills and extra stimulation in cases of eating disorders are often required.
- When treating medically compromised patients always contact their doctor for medical advice (heart diseases etc).
- 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.