Overview
Qazi-Markouizos syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain, face, and limbs. It is sometimes referred to as Qazi syndrome. The condition is present from birth and is characterized by a combination of features including an unusually large head (macrocephaly), distinctive facial features, intellectual disability, and abnormalities of the hands and feet. Some affected individuals may also have seizures and delayed development. The facial features associated with this syndrome can include a prominent forehead, widely spaced eyes, a broad or flat nasal bridge, and abnormalities of the ears. Hand and foot abnormalities may include extra fingers or toes (polydactyly), unusually broad thumbs or big toes, and other skeletal differences. Brain imaging may reveal structural abnormalities such as enlarged ventricles or other malformations. Because this syndrome is so rare, with only a handful of cases described in the medical literature, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms and may include therapies for developmental delays, seizure management with medications, and surgical correction of physical abnormalities when needed. A team of specialists is typically involved in the care of affected individuals.
Key symptoms:
Unusually large head (macrocephaly)Intellectual disabilityDelayed developmentSeizuresExtra fingers or toesBroad thumbs or big toesWidely spaced eyesProminent foreheadFlat or broad nasal bridgeAbnormal ear shapeBrain structural abnormalitiesLow muscle toneShort statureFeeding difficulties in infancy
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Qazi-Markouizos syndrome.
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Specialists
View all specialists →No specialists are currently listed for Qazi-Markouizos syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Qazi-Markouizos syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific features of my child's condition led to this diagnosis?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,What therapies should we start right away to support my child's development?,How should we monitor for and manage seizures?,Are there any surgical options for the hand or foot abnormalities?,What is the expected developmental outlook for my child?,Are there any other family members who should be tested or evaluated?
Common questions about Qazi-Markouizos syndrome
What is Qazi-Markouizos syndrome?
Qazi-Markouizos syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain, face, and limbs. It is sometimes referred to as Qazi syndrome. The condition is present from birth and is characterized by a combination of features including an unusually large head (macrocephaly), distinctive facial features, intellectual disability, and abnormalities of the hands and feet. Some affected individuals may also have seizures and delayed development. The facial features associated with this syndrome can include a prominent forehead, widely spaced eyes, a b
How is Qazi-Markouizos syndrome inherited?
Qazi-Markouizos syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Qazi-Markouizos syndrome typically begin?
Typical onset of Qazi-Markouizos syndrome is neonatal. Age of onset can vary across affected individuals.