Discussions By Condition: I cannot get a diagnosis.

help with diagnosing possible genetic/hereditory disorder/syndrome

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Anonymous
  • August 9, 2010
  • 06:27 AM

I'm hoping someone here will be able to help. I have done a fair amount of googling and have not yet been able to find an answer.

I am wondering if there is a particular syndrome/disorder that is also hereditary that would fit the following symptoms.

- causes delayed development/mild to medium mental retardation,
- poor co-ordination,
- hypotonia (low muscle tone),
- limbs and fingers noticeably longer than expected for height, (out of proportion to trunk),
- lack of flexibility, arms and legs can be fully straightened but toe touching etc is impossible.
- low set ears,
- flat cheek bones,
- significantly delayed speech which remains hard to understand,
- affects both males and females
- causes no other defects, eg, skin, eyes, hearing, heart, lungs, palate, metabolism, height, head circumference are all unremarkable.

Family history is:
Generation 1 - no signs/symptoms
Generation 2 - signs/sypmtoms in 1 out of 2 offspring
Generation 3 - signs/sypmtoms in all offspring from the affected Generation 2 child/parent. Children of the unaffected Generation 2 child/parent show no signs/sypmtoms.

I'm hoping someone out there can help as I have come to a dead end so far.

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