Living with Ghosal hematodiaphyseal dysplasia
A rare inherited condition with thick, dense bones and low red blood cells (anemia), starting in early childhood.
Understanding Ghosal hematodiaphyseal dysplasia
Signs appear in early childhood. The long bones of the arms and legs are unusually dense and wide, which can lead to bowed legs and trouble walking. Scarring (fibrosis) of the bone marrow means it can't make enough red blood cells, which causes anemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, dense long bones
- Bowed legs and trouble walking
- Anemia (low red blood cells)
- Very pale skin
- Excessive tiredness (fatigue)
- Extra bone growth of the skull and face
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 TBXAS1 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
- 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
Changes in the TBXAS1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: diaphyseal dysplasia anemia syndrome; diaphyseal dysplasia with anemia; diaphyseal dysplasia-anemia syndrome; ghosal hematodiaphyseal syndrome; ghosal 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 Ghosal hematodiaphyseal dysplasia.
Explore research for Ghosal hematodiaphyseal dysplasia
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