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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.
* The narrated feature of child seems in concern with development disorder of genetic origin most likely through some sort of inherited mutation condition.
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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What Causes Thin Finger Nails With Thick Thumb Pads And Joint Laxity?
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