Wat is het Aarskog Scott syndrome?
Het Aarskog syndroom is een erfelijke aandoening waarbij jongens kleiner zijn van lengte in combinatie met bijzondere uiterlijke kenmerken zoals korte vingers en een balzakje wat rondom de penis gedraaid ligt als een soort sjaal.
Wat is Brachydactylie?
Bij brachydactylie zijn een of meer vingers of tenen abnormaal kort doordat de kootjes, de middenhand- of middenvoetbeentjes te kort zijn of ontbreken. Deze afwijking is meestal erfelijk, dubbelzijdig en symmetrisch.
Is brachydactyly a genetic disease?
It’s possible that your brachydactyly is symptomatic of a genetic syndrome. This is much rarer. If so, you will have other symptoms besides the shortened fingers or toes. Brachydactyly might be caused by Down syndrome or Cushing’s syndrome, for example. The different types of brachydactyly are categorized by the bones and digits affected.
What is the pathophysiology of brachydactyly type E?
If brachydactyly type E is syndromic, it means a person has another genetic disease or health issue that includes the shortening of the hand and feet bones as one of its symptoms. [3] [4] Isolated brachydactyly type E is caused by genetic changes (pathogenic variants or mutations) in the HOXD13 gene.
What is the difference between Type C and Type D brachydactyly?
Type C is rare and affects the index, middle, and little fingers. The middle phalanges, as in type A, are shortened, but the ring finger is often not affected and is the longest finger on the hand. Type D brachydactyly is considered to be common and affects only the thumbs. The end bones of the thumbs are shortened but all the fingers are normal.
What is brachydactyly (short digits)?
Brachydactyly (“short digits”) is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.