Living with Lethal short-limb skeletal dysplasia, Al Gazali type
A rare inherited bone condition with very short limbs, a small chest, and facial differences present before birth.
Understanding Lethal short-limb skeletal dysplasia, Al Gazali type
Growth plates look normal under a microscope, but bones do not grow as expected. Arm and leg bones are very short, fingers and toes can be short, and the chest is small. The face may look flatter, with wide-set eyes and low ears. Extra amniotic fluid and fluid buildup in the baby (hydrops) can occur during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short arms and legs
- Clubfeet
- Flat nasal bridge and midface
- Dense bones (osteosclerosis)
- Fluid buildup in the baby (hydrops fetalis)
- Extra amniotic fluid
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Also known as: dysplastic cortical hyperostosis, al-gazali type; lethal neonatal short limb dwarfism
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 Lethal short-limb skeletal dysplasia, Al Gazali type.
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