obsolete McKusick type metaphyseal dysplasia

Metaphyseal Chondrodysplasia, McKusick Type (Cartilage-hair Hypoplasia) is a rare genetic disorder characterized by short stature and skeletal abnormalities. The condition was first recognized as a clinical entity in 1965 [6].

The common characteristics of Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia) include:

• Short stature: Individuals with this condition typically have short-limbed dwarfism, which is usually recognized at birth or during early childhood.
• Shortened limbs: The arms and legs are disproportionately short compared to the body.
• Joint abnormalities: Patients may experience joint problems, such as genu varum (knee deformity) and coxa vara (hip deformity).
• Spinal abnormalities: Some individuals with this condition may have spinal issues, including scoliosis or kyphosis.

In addition to these physical characteristics, Cartilage-hair Hypoplasia is also associated with fine, sparse hair [1]. The disorder is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [5].

It's worth noting that Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia) is a rare and complex condition, and its symptoms can vary widely among affected individuals.

Signs and Symptoms of McKusick Type Metaphyseal Chondrodysplasia

McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia (CHH), is a rare inherited disorder characterized by unevenly short arms and legs. The disease is associated with several signs and symptoms, including:

• Short stature: Individuals with McKusick type metaphyseal chondrodysplasia often have short stature, which can be a result of the abnormal bone formation in their long bones.
• Fine, sparse hair: One of the common features of this disorder is fine, thin, or scarce hair on the head and eyebrows. This is due to the cartilage-hair hypoplasia aspect of the disease.
• Loose joints and scoliosis: Individuals with McKusick type metaphyseal chondrodysplasia may experience loose joints and scoliosis, which can be a result of the abnormal bone formation in their limbs.
• Bowed legs and shortened long bones: The disease is also associated with bowed legs and shortened long bones, which can lead to difficulties in walking or standing.
• Abnormalities of spine: Individuals with McKusick type metaphyseal chondrodysplasia may experience abnormalities of the spine, including scoliosis.
• Neutropenia: This disorder is also associated with neutropenia, a condition characterized by an abnormally low number of white blood cells.

These signs and symptoms can vary in severity and may be present at birth or develop later in life. It's essential to note that McKusick type metaphyseal chondrodysplasia is a rare disorder, and the extent of its symptoms can differ from person to person.

References:

• [1] Widened metaphyses, short long bones, elongated fibulae, and anterior angulation of the sternum are all signs of CHH. (Source: Search result 3)
• [2] The disease is associated with short stature, fine, sparse hair, and often with immune deficiency. Other symptoms include short fingers and possibly short, bowed legs. (Source: Search result 4)
• [3] Fine hair that may be thin or scarce, loose joints and scoliosis are common features of McKusick type metaphyseal chondrodysplasia. (Source: Search result 7)

Diagnostic Tests for McKusick Type Metaphyseal Dysplasia

McKusick type metaphyseal dysplasia, also known as cartilage-hair hypoplasia (CHH), is a rare genetic disorder. Diagnostic tests are essential to confirm the diagnosis of this condition.

• Blood Tests: Blood tests can help detect low levels of red blood cells (anemia) [1]. Additionally, laboratory tests that detect abnormally high levels of calcium in the urine (hypercalciuria) and blood (hypercalcemia) are helpful in confirming the diagnosis [8].
• Genetic Testing: Genetic testing is a crucial diagnostic tool for McKusick type metaphyseal dysplasia. Testing of the RMRP gene can confirm the diagnosis of CHH [5]. The genetic testing registry also provides information on this condition, including the availability of genetic tests from US and other countries [2].
• Radiographic Features: Radiographic features are essential in diagnosing McKusick type metaphyseal dysplasia. Schmid type metaphyseal chondrodysplasia is a type of metaphyseal dysplasia that can be differentiated based on radiographic features, including Braun-Tinschert type [6].
• Clinical Features: Clinical features such as disproportionate short stature and fine slow-growing hair are also important in diagnosing McKusick type metaphyseal dysplasia [4].

References

[1] Context 1: Blood tests should be done to detect low levels of red blood cells (anemia).

[2] Context 2: Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type.

[3] Context 5: Testing of the RMRP gene can confirm the diagnosis of CHH.

[4] Context 4: A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.

[5] Context 5: Cartilage Hair Hypoplasia (CHH) is also known as metaphyseal dysplasia, McKusick type.

[6] Context 6: The differential diagnosis includes Braun-Tinschert type of metaphyseal dysplasia.

[7] Context 8: Laboratory tests that detect abnormally high levels of calcium in the urine (hypercalciuria) and blood (hypercalcemia) are helpful in confirming the diagnosis.

Treatment Options for McKusick Type Metaphyseal Dysplasia

McKusick type metaphyseal dysplasia is a rare genetic disorder that affects bone growth and development. While there is no cure for this condition, various treatment options can help manage its symptoms and improve quality of life.

• Surgical Spinal Fusion: In patients with atlantoaxial instability, surgical spinal fusion may be indicated to stabilize the spine and prevent further complications [3].
• Bisphosphonates: Short- and intermediate-term results of treatment with bisphosphonates have shown a reduction in bone pain and frequency of fractures [13]. However, it is essential to note that these medications do not increase height.
• Growth Hormone (GH) Therapy: Although no established treatment for McKusick type metaphyseal dysplasia exists, GH therapy has been explored as a potential option. Research suggests that GH can have an effect on linear growth and bone remodeling [9].
• Multidisciplinary Approach: Treatment often involves a multidisciplinary approach to improve and maintain function. This may include physical therapy, occupational therapy, and other supportive care measures.

It is essential to note that treatment plans for McKusick type metaphyseal dysplasia are highly individualized and depend on the specific symptoms and needs of each patient [15]. Consultation with a qualified healthcare professional is necessary to determine the most effective course of treatment.

The differential diagnosis for McKusick type metaphyseal dysplasia, also known as Cartilage-Hair Hypoplasia (CHH), should include other diseases that combine immunodeficiency with skeletal dysplasia. Some of these conditions are:

• Schimke immuno-osseous dysplasia: This is a rare genetic disorder characterized by immunodeficiency and skeletal abnormalities, similar to CHH.
• Metaphyseal chondrodysplasia, Schmid type (MCDS): Although MCDS is primarily associated with short stature and abnormal bone growth, it can also present with immunodeficiency-like symptoms.

It's essential to consider these conditions when diagnosing McKusick type metaphyseal dysplasia, as they share similar clinical features. A thorough evaluation of the patient's medical history, physical examination, and laboratory results is necessary to differentiate between these conditions.

According to [5], Schimke immuno-osseous dysplasia should be included in the differential diagnosis due to its overlapping symptoms with CHH. Additionally, [6] mentions that MCDS can present with immunodeficiency-like symptoms, making it a relevant condition for consideration in the differential diagnosis of McKusick type metaphyseal dysplasia.

References: [5] [6]