Autosomal dominant
Caused by a change in one copy of FAM111A, a protein whose normal function is still being studied. Most cases arise de novo.
Signs and symptoms
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.
What a diagnosis changes
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.
Genes analysed
Includes 2 related subtypes ↓Hide subtypes ↑
- autosomal dominant Kenny-Caffey syndrome
- osteocraniostenosis
