Kenny-Caffey syndrome type 2
Other Names: KCS2; Dwarfism, cortical thickening of tubular bones and transient hypocalcemia; Kenny-Caffey syndrome, autosomal dominant
Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia).
Cause[edit | edit source]
This syndrome is caused by changes (pathogenic variants) in the FAM111A gene.
Inheritance[edit | edit source]
It is inherited in an autosomal dominant pattern.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Cortical thickening of long bone diaphyses
- Delayed cranial suture closure
- Short stature(Decreased body height)
- Stenosis of the medullary cavity of the long bones
30%-79% of people have these symptoms
- Abnormal circulating follicle-stimulating hormone level
- Anemia(Low number of red blood cells or hemoglobin)
- Basal ganglia calcification
- Bilateral microphthalmos(Abnormally small eyeball on both sides)
- Calvarial osteosclerosis
- Carious teeth(Dental cavities)
- Congenital hypoparathyroidism
- Decreased skull ossification(Decreased bone formation of skull)
- Decreased testicular size(Small testes)
- Delayed skeletal maturation(Delayed bone maturation)
- Hypermetropia(Farsightedness)
- Hyperphosphatemia(High blood phosphate levels)
- Hypertelorism(Wide-set eyes)
- Hypocalcemic seizures(Low calcium seizures)
- Hypocalcemic tetany
- Intrauterine growth retardation(Prenatal growth deficiency)
- Papilledema
- Postnatal growth retardation(Growth delay as children)
- Postnatal macrocephaly
- Prominent forehead(Pronounced forehead)
- Retinal calcification
- Thin long bone diaphyses(Thin shaft of long bone)
5%-29% of people have these symptoms
- Developmental cataract(Clouding of the lens of the eye at birth)
- High pitched voice
- Persistence of primary teeth(Delayed loss of baby teeth)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur.
NIH genetic and rare disease info[edit source]
Kenny-Caffey syndrome type 2 is a rare disease.
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