Grebe chondrodysplasia, also known as Acromesomelic Dysplasia-2A (AMD2A), is a rare, autosomal recessive genetic disorder affecting limb development. It is characterized by severe abnormalities of the limbs and their joints.
Here's a more detailed breakdown:
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Nature of the Disorder: Grebe chondrodysplasia is a skeletal dysplasia, meaning it primarily affects the growth and development of cartilage and bone.
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Inheritance Pattern: It follows an autosomal recessive inheritance pattern. This means that both parents must carry a copy of the mutated gene for the child to be affected. Parents are usually asymptomatic carriers.
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Key Characteristics:
- Limb Abnormalities: The most prominent feature is severe shortening of the limbs (acromesomelic dysplasia).
- Proximal-Distal Gradient: The severity of limb shortening increases from the torso outwards, with the hands and feet being most severely affected.
- Joint Abnormalities: Significant abnormalities in the joints are also typical.
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Severity: The severity of Grebe chondrodysplasia can vary, but it generally leads to significant physical disabilities.
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Genetic Basis: This disorder is caused by mutations in genes involved in limb development. Mutations in genes like GDF5 have been associated with Grebe chondrodysplasia.
In simpler terms, Greeby syndrome, more accurately known as Grebe chondrodysplasia or Acromesomelic Dysplasia-2A, is a rare genetic condition that leads to severely shortened limbs, particularly affecting the hands and feet.
