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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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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
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General Surgeon,  's  Response
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
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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