HomeHealth articlesgenetic inheritanceWhat Is Cartilage-Hair Hypoplasia?

Cartilage-Hair Hypoplasia- A Genetic Abnormality

Verified dataVerified data
0

4 min read

Share

Cartilage-hair hypoplasia is a genetic disorder that affects the growth of the bone. This article will describe further about this disorder.

Medically reviewed by

Dr. Rajesh Gulati

Published At December 1, 2022
Reviewed AtDecember 28, 2023

What Is Cartilage-Hair Hypoplasia?

Cartilage-hair hypoplasia is a disorder related to bone growth. This disorder is characterized by immune deficiency, short stature, and sparse hair. Moreover, due to immune deficiency, there are recurrent infections seen in children. Children with this abnormality have shorter limbs than usual, and this abnormality is seen by birth. The abnormality of bones is due to malformation of the end of the cartilage of the long bones or limbs. Due to this malformation, there are developmental defects seen in bones. Some of the joints are unusually flexible in some of the patients; in others, they are unusually stiff.

Additionally, children with this abnormality often have significantly lighter-colored hair due to missing pigments in the hair. Moreover, the thickness of each strand of hair is also affected. Each hair strand is thinner than usual, and this makes the appearance sparse in children as well as adults. In addition to this feature, there is an abnormality of nails and dental problems seen in the patients.

In cartilage-hair hypoplasia, the immune deficiency is seen in mild to severe form. Patients with the most severe immune deficiency have severe combined immunodeficiency (SCID), Where patients virtually lack immunity against bacteria, viruses, and fungi. Owing to a lack of immunity, these infections are recurrent and often cause life-threatening situations. Most people with milder immune deficiency, along with the disorder, also have infections related to the ears and sinuses. Moreover, there are autoimmune disorders that attack organs and body tissues due to immune system malfunction.

What Are the Causes of Cartilage-Hair Hypoplasia?

Cartilage-hair hypoplasia is caused by a mutation of the genes. This dysplasia is caused by the mutation of both copies of RMRP genes. This is typically an autosomal recessive mutation. This means that each parent carries one copy of the mutated genes, but they typically do not show any signs and symptoms of the disorder. A non-coding RNA is produced from RMRP, that attaches to other proteins. This binding produces enzymes called mitochondrial RNA-processing endoribonuclease or RNase MRP. This enzyme is essential in several processes in the cell.

Mutation of the RMRP genes results in the unstable formation of non-coding RNA. Due to unstable RNA, the binding and production of the enzymes are also interrupted. These interfere with the function of the cells, and this, in turn, causes signs and symptoms associated with cartilage-hair hypoplasia.

What Are the Signs and Symptoms of Cartilage-Hair Hypoplasia?

Individuals with this disorder usually have the following:

  1. Fine and light hair growth.

  2. Neck instability.

  3. Possibility of anemia that usually lessens with increased age.

  4. High risk of cancer.

  5. Abnormal cardiac septum morphology is one of the many common symptoms associated with this disorder. It is a defect related to the intraventricular or intra-atrial septum.

  6. Blue sclerae is a commonly seen symptom where the whites of the eyes appear bluish-gray in color.

  7. Cardiomyopathy is a commonly seen myocardial disorder, where the structural abnormality of the heart muscle is seen.

  8. Loose ligaments in elbows.

  9. Bowing of legs.

  10. Risk of infections.

  11. Inability to absorb nutrients from food.

  12. Constipation.

  13. Vision loss or visual impairment.

  14. Intestinal blockage.

  15. Enlargement of the colon.

  16. Scoliosis is a sideways curvature of the spine that grows with age and causes severe pain and disability in adults.

  17. Kyphosis (the forward rounding of the upper back. In infants, this is caused by malformation of the spine or the wedging of the spine).

  18. Abnormal bone ossification (a very common symptom associated with this disorder. It is an anomaly where the formation of bone, bony substance, or conversion of fibrous tissue or cartilage is converted into bony substances).

  19. Premature arthritis (usually hips and knees are affected by this).

  20. Cervical instability (the second neck vertebrae of the spine is the main cause of this complication).

How to Diagnose Cartilage-Hair Hypoplasia?

The very first step of any successful diagnosis is the detailed medical history that continues with other diagnostic methods, such as:

  • Medical History and Physical Examination:

    • To commence with, the doctor or other healthcare provider will start by asking and taking detailed medical and family history and current symptoms.

    • Commonly they also ask about patients' social history, past medical history, allergies, and medications.

    • During the physical examination, doctors usually check vital signs, including temperature, heart rate, breathing rate, blood pressure, weight, and height.

    • Also, doctors check for any abnormalities, such as swelling, lumps, masses, or other abnormal changes in the body.

  • Genetic Testing:

    • Genetic tests are usually ordered by primary care physicians, a geneticist, or other specialists.

    • Genetic tests use samples of blood, saliva, or other tissues.

    • The report evaluates pathogenic, benign, or other unknown variants.

  • Clinical Procedures:

    • The clinical procedure measures body processes and looks for any abnormality related to a particular disease.

    • For patients with any brain-related abnormality, an electroencephalogram (EEG) is used to measure the electrical activity of the brain.

  • Laboratory Tests:

    • Laboratory tests are used to check blood, urine, or other body tissues to evaluate medical conditions.

    • There are many health complications related to this disorder that require laboratory tests, such as hypocalcemia, abnormality of chromosomes, and decreased circulating antibody levels.

  • Imaging Studies:

    • Imaging studies such as X-rays are done to evaluate any complications related to the neck, spine, hips, and legs.

How to Manage Cartilage-Hair Hypoplasia?

Depending on the severity of the condition and involvement, or the location of the abnormality, there are multiple treatment options available for this disorder, Such as:

  • Cervical fusion along with placement of halo for cervical stability.

  • For scoliosis and kyphosis, posterior spinal fusion or placement of growing rods.

  • For hip dislocation, the traditional treatment is recommended.

  • For misalignment of bones, lower-extremity osteotomies are recommended.

  • In the cases of severe arthritis, total joint replacement is recommended.

Conclusion

Cartilage-hair dysplasia is a disorder that majorly affects the structure of the bone. According to the severity of the symptoms and location of the complication, the treatment plan and diagnosis are recommended by doctors. Due to its multi-system involvement, parents should follow the instructions given by interdisciplinary physicians. As some of the symptoms worsen with increasing age, it is essential for parents to take children for regular hospital visits.

Source Article IclonSourcesSource Article Arrow
Dr. Rajesh Gulati
Dr. Rajesh Gulati

Family Physician

Tags:

cartilage-hair hypoplasiagenetic inheritanceimmunity
Community Banner Mobile
By subscribing, I agree to iCliniq's Terms & Privacy Policy.

Source Article ArrowMost popular articles

Do you have a question on

genetic inheritance

Ask a doctor online

*guaranteed answer within 4 hours

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.

This website uses cookies to ensure you get the best experience on our website. iCliniq privacy policy