Living with Metaphyseal chondrodysplasia, McKusick type
An inherited condition, also called cartilage-hair hypoplasia, with short stature, fine sparse hair, and immune problems.
Understanding Metaphyseal chondrodysplasia, McKusick type
People have short limbs and short stature from birth. Most are very flexible in some joints but may not fully straighten their elbows. Hair is light, thin, and sparse. The immune problem varies from mild to severe and can lead to repeated infections, especially of the breathing tract. The most severe form is called severe combined immunodeficiency (SCID).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and short limbs
- Fine, sparse, light-colored hair
- Repeated infections from weak immunity
- Loose joints
- Nail and tooth differences
- Bowed legs
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 allergy and immune system specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in RMRP 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
Immune Deficiency Foundation, Little People of America and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation, Little People of America, National Foundation for Ectodermal Dysplasias
- 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 Immune Deficiency Foundation and other patient organizations
- 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 RMRP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive metaphyseal chondrodysplasia; cartilage hair hypoplasia; cartilage hair syndrome; cartilage-hair hypoplasia; cartilage-hair hypoplasia syndrome; chh
Patient organizations
- Immune Deficiency FoundationMetaphyseal chondrodysplasia, McKusick type · United States
- Little People of AmericaMetaphyseal chondrodysplasia, McKusick type · United States
- Jeffrey Modell FoundationMetaphyseal chondrodysplasia, McKusick type · United States
- The MAGIC FoundationMetaphyseal chondrodysplasia, McKusick type · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal chondrodysplasia, McKusick type.
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