Living with Symptomatic form of Coffin-Lowry syndrome in female carriers
An X-linked condition in some females with Coffin-Lowry gene changes, with variable facial features, short stature, and learning differences.
Understanding Symptomatic form of Coffin-Lowry syndrome in female carriers
Features vary a lot from person to person. They can include facial differences, short hands with tapering fingers, short stature, and a spine that curves more over time. Intellectual disability is mild to moderate, though intelligence can also be normal. A high rate of psychiatric conditions has been reported. Signs may begin during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Large or short hands with tapered fingers
- Facial differences such as a prominent forehead
- Short stature
- Curving spine (kyphoscoliosis)
- Mild to moderate intellectual disability
- Mood or psychiatric conditions
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in RPS6KA3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Coffin-Lowry Syndrome Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RPS6KA3 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: symptomatic form of coffin-lowry syndrome in female carrier
Patient organizations
- Coffin-Lowry Syndrome FoundationSymptomatic form of Coffin-Lowry syndrome in female carriers · United States
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