Q: Which doctor should I consult for Coffin-Lowry syndrome?
A: For this syndrome, a well-qualified, experienced and trained physician in the field of genetics needs to be consulted. In addition, consultations with other specialists can be done based on the specific requirement.
Q: How common is Coffin-Lowry syndrome?
A: The exact incidence of Coffin-Lowry syndrome is not known, but it is rare and is estimated to affect about 1 in 40,000 to 50,000 people.
Q: How is Coffin-Lowry syndrome inherited?
A: Coffin-Lowry syndrome is inherited in an X-linked dominant pattern. In an X-linked inheritance, the mutated gene causing the disorder is present on X-chromosome (one of the two sex chromosome).
Males have one X chromosome and one Y chromosome, while females have 2 X chromosomes in each cell. This means that all males with the defect will suffer from the condition. Since the defect is ‘dominant’, even if it is present only on one X chromosome, the female will also suffer from the syndrome. However, since the gene on the other X chromosome in the female may be normal, the symptoms may not be very severe.
A male passes his X chromosome to his daughter and Y chromosome to his son. Thus, the daughter of an affected male can inherit the condition. On the other hand, the son does not get the defective gene and will be free from the syndrome.
However, it has been noted that most people who suffer from the syndrome do not have a documented family history of the condition.
Q: What other names are used for Coffin-Lowry syndrome?
A:
- CLS
- Mental retardation with osteocartilaginous abnormalities
Q: Are there any organizations/support groups for Coffin-Lowry syndrome?
A:
- Coffin-Lowry Syndrome Foundation: Website: http://www.clsf.info
- National Organization for Rare Disorders (NORD): Website: http://www.rarediseases.org
- National Institute of Mental Health (NIMH): Website: http://www.nimh.nih.gov
- The Arc of the United States: Website: http://www.thearc.org
- Genetic and Rare Diseases (GARD) Information Center: Website: http://rarediseases.info.nih.gov/GARD/
