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What Causes Thin Finger Nails With Thick Thumb Pads And Joint Laxity?
I m a pediatric occupational therapist. I ve tested a boy with some syndrome type appearances. I m researching what syndromes might include significant joint laxity and low upper / lower extremity tone. More specifically, he had very short, wide, distal phalanx of both thumbs, paper thin finger nails, and thick thumb pads . Writing is very difficult for him. He had additional remarkable features of the earlobe (attached at base), almond shaped eyes, and steep, short upper lip.
Thu, 16 Apr 2020
Hello,
* The narrated feature of child seems in concern with development disorder of genetic origin most likely through some sort of inherited mutation condition.
* There are various possibilities as
- Ehler Danlos syndrome
- Osteogenesis imperfecta
- Musculopathy or myotonic dystrophy
- kidney issues with erythropoietin
- complement mediated multi system damage
- severe calcium deficiency or parathyroid disorders
- others
However, multiple clinical parameters need to be evolved here as
- serial skeletal survey
- complete hemogram
- renal and liver function tests
- level of Growth hormone, thyroid and parathyroid hormones
- serum calcium, vitamin D and trace elements level
- Genetic testing for possible chromosome disorders
- others as per the clinician decision and evaluation.
Hope I have answered your query. Let me know if I can assist you further.
Take care
Regards,
Dr. Bhagyesh V. Patel
* The narrated feature of child seems in concern with development disorder of genetic origin most likely through some sort of inherited mutation condition.
* There are various possibilities as
- Ehler Danlos syndrome
- Osteogenesis imperfecta
- Musculopathy or myotonic dystrophy
- kidney issues with erythropoietin
- complement mediated multi system damage
- severe calcium deficiency or parathyroid disorders
- others
However, multiple clinical parameters need to be evolved here as
- serial skeletal survey
- complete hemogram
- renal and liver function tests
- level of Growth hormone, thyroid and parathyroid hormones
- serum calcium, vitamin D and trace elements level
- Genetic testing for possible chromosome disorders
- others as per the clinician decision and evaluation.
Hope I have answered your query. Let me know if I can assist you further.
Take care
Regards,
Dr. Bhagyesh V. Patel
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