Living with Metaphyseal dysplasia without hypotrichosis
A rare bone growth condition with very short height, loose joints, and sometimes immune problems.
Understanding Metaphyseal dysplasia without hypotrichosis
Common features include very short height with arms and legs shorter than the trunk. Others can include very flexible joints, fine silky hair, immune problems, low red blood cells (anemia), and digestive problems. GARD says the most severe form can involve instability between the top spine bones and learning difficulties. Symptoms vary, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Loose joints
- Bowed legs
- Short hand bones
- Changes at the ends of long bones
- Fine, silky hair
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent. GARD does not name a gene here.
Also known as: cartilage-hair hypoplasia variant, skeletal manifestations only; cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; metaphyseal dysplasia without hypotrichosis (mdwh)
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 Metaphyseal dysplasia without hypotrichosis.
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