Description
Since birth, parents have noticed deformities in hands and toes. These deformities were painless and didn’t cause any difficulties with walking. However, running has been always difficult. He has no apparent intellectual disability as other siblings presenting with the same symptoms. He has bad teeth. He passed his baccalaureate at his third try and now he is in fifth grade (year) of medical school. Similar symptoms are present in some of his siblings, in his father, and in some of his uncles, aunts and cousins, with wide variability even within the same generation.
Symptoms / Signs
- On physical examination he has deformities in his hands and toes, and bad teeth. However, radiographs of his hands and toes did not show any bone or joint lesions. Blood calcium was normal, unlike in a 28 year old sister.
Current Treatments
- None
Prior Treatments
- None
Considered treatments
- None
Previously Considered Diagnoses
- Chronic Arthritis
Genetic Variants of Interest
- Karyotype, ANKH gene, WES.
Siblings, age & gender
28 and 36 years old affected brothers, 26 years old affected sister, 22 and 34 years old unaffected sisters.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Amadou is a 25-year-old medical student. His desire to help his community prompted him to get involved in student associations that offer free medical care to populations in need in his region of origin. He is very welcoming.
