Living with Qazi Markouizos syndrome
A very rare genetic syndrome present from infancy with very low muscle tone, severe developmental delay, and constipation.
Understanding Qazi Markouizos syndrome
The low muscle tone does not worsen over time. Other features include severe delays in development, long-lasting constipation, a swollen belly, and slow bone maturation. Seizures may occur. GARD says it hasn't been described in the literature since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very low muscle tone as a baby (floppy infant)
- Severe delays in development
- Chronic constipation
- Seizures
- Undescended testicles
- Repeated infections
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
GARD says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
Also known as: dysharmonic skeletal maturation - muscular fiber disproportion; dysharmonic skeletal maturation - muscular fibre disproportion; dysharmonic skeletal maturation and muscular fiber disproportion syndrome; dysharmonic skeletal maturation muscular fibre disproportion; dysharmonic skeletal maturation-muscular fiber disproportion syndrome; dysharmonic skeletal maturation-muscular fibre disproportion syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Qazi Markouizos syndrome.
Explore research for Qazi Markouizos syndrome
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