Characteristics, Cont'd
Teeth and Mouth
Dental anomalies are common and may include:
- high, narrow palate
- small, widely-spaced peg-shaped baby teeth
- midline lingual furrow (midline groove in tongue)
- malocclusion ("bad bite")
- early loss of baby teeth
- late eruption of primary teeth
- missing permanent teeth
- small jaw
- obstructive sleep apnea
Psychiatric Disorders
Four families have been reported in which females with Coffin-Lowry syndrome have shown episodic or long standing psychotic behaviour. In one instance this resulted in hospitalisation for over 30 years. In another family, one woman was described as being “shy and retiring” whereas her sister had a life long history of being “in a world of her own”. Three other affected females in two different families have been diagnosed as having either schizophrenia or a depressive psychosis. Given the relative rarity of the Coffin-Lowry syndrome, these reports indicate that psychotic behaviour in affected females is a true complication rather than a spurious chance observation. Onset is usually around the age of 20 years and response to therapy is variable. This pattern of behaviour is observed only rarely in affected males,who are usually cheerful, easy going, and friendly. (Source)
Life Span
Life span may be reduced in some persons with CLS, although accurate information is not available. Of individuals reported in the literature, death occurred in 13.5% of males and 4.5% of females at a mean age of 20.5 (range: 13-34) years [Hunter 2002]. Coffin (2003) reported that one of his original patients died at age 18.8 years of pneumonia superimposed on chronic lung and heart disease, and a second at age 18 years of acute food aspiration.
Factors that may affect life span
- cardiac anomalies
- respiratory complication
- progressive kyphoscoliosis
- seizure-associated aspiration of stomach contents