Short-limb skeletal dysplasia with severe combined immunodeficiency

Autosomal recessive - en

Short-limb skeletal dysplasia with severe combined immunodeficiency is a rare genetic disorder characterized by abnormalities in bone development and a significantly weakened immune system. This condition is part of a broader group of disorders known as skeletal dysplasias and is also associated with primary immunodeficiency.

Clinical Features

Individuals with short-limb skeletal dysplasia with severe combined immunodeficiency typically present with markedly short stature due to disproportionate shortening of the limbs. Other skeletal abnormalities may include dwarfism, bowed legs, and joint deformities. The immune system deficiencies in these patients lead to increased susceptibility to infections, which can be life-threatening if not managed properly.

Genetics

This disorder is usually inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific genetic mutations responsible for this condition can vary, but they often involve genes that play crucial roles in both bone development and immune system function.

Diagnosis

Diagnosis of short-limb skeletal dysplasia with severe combined immunodeficiency typically involves a combination of clinical evaluation, radiographic imaging, and genetic testing. X-rays can reveal characteristic skeletal abnormalities, while genetic tests can identify mutations in the relevant genes.

Treatment

Management of this condition requires a multidisciplinary approach. Treatment may include growth hormone therapy, orthopedic interventions to address skeletal deformities, and bone marrow transplantation to correct the immune deficiency. Supportive care to prevent and treat infections is also critical.

Prognosis

The prognosis for individuals with short-limb skeletal dysplasia with severe combined immunodeficiency varies depending on the severity of the immune deficiency and the success of treatments such as bone marrow transplantation. Early diagnosis and intervention are crucial for improving outcomes.

See Also

• Skeletal dysplasia
• Severe combined immunodeficiency
• Primary immunodeficiency
• Dwarfism
• Bone marrow transplantation

References

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