Living with Multiple epiphyseal dysplasia, Al-Gazali type
A rare bone condition that mainly affects the ends of the bones and joints, and can also involve the head, face, and fingers.
Understanding Multiple epiphyseal dysplasia, Al-Gazali type
This condition affects how the ends of the bones (epiphyses) grow. People with it usually have normal height, along with swollen joints and knock knees. Other features can include curved fingers, spindle-shaped fingers, and a sunken chest. GARD lists onset as newborn and infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swollen or enlarged joints
- Joint pain (arthralgia)
- Knock knees (genu valgum)
- Larger than usual head (macrocephaly)
- Wide-set eyes (hypertelorism)
- Sunken chest (pectus excavatum)
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in KIF7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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 lists changes in the KIF7 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: macrocephaly with multiple epiphyseal dysplasia and distinctive facies; multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia, Al-Gazali type · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia, Al-Gazali type.
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