Diastrophic Dysplasia


AP Biology
Cockayne Syndrome
Spinal Muscular Atrophy
Diastrophic Dysplasia
Steroid Alpha Reducatse
Cadherin 6
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Diastrophic Dysplasia is a rare growth disorder in which patients shows symptoms of dwarfism, club feet, and malformed hand joints.  The disorder is often characterized short arms and legs, abnormal development of bones and joints in many areas of the body. Particularly characteristic of DTD is the 'hitchhiker' thumb (right). Also, DTD is an autosomal recessive trait.
Prenatal Diagnosis can be done at 16 weeks from the abnormally short limbs and projection of the thumbs on ultrasound examination. Studies were prompted by the birth of an affected child, so normal values for bone length were taken and measured to the child's and it was concluded that the metacarpophalangeal pattern profile (MCPP) may be a useful diagnostic tool to determine if the child has DTD. 
There is no therapy or cure for this because not enough research has been done in this field.

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