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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 63446
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
It has been described in 5 individuals in 2 families.
Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.
Homozygous mutations in the Indian hedgehog homolog gene ( IHH ; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.
The condition is transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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