Autozomálně dominantní
Caused by a change in one copy of FAM111A, a protein whose normal function is still being studied. Most cases arise de novo.
Příznaky a projevy
In Kenny-Caffey syndrome, short stature with thick-walled, narrow long bones, delayed closure of the soft spot of the skull, and eye and dental differences. Low parathyroid hormone causing low blood calcium is common, and seizures or spasms have been reported. Less often the condition is more severe, as osteocraniostenosis, with slender bones, thin ribs and breathing problems, which can be fatal in the newborn period.
Co se diagnózou změní
Blood calcium monitoring, with calcium and active vitamin D treatment for hypoparathyroidism, plus eye, dental and growth follow-up. Most cases arise de novo, so genetic counselling and parental testing guide recurrence risk.
Analyzované geny
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- autosomal dominant Kenny-Caffey syndrome
- osteocraniostenosis
