Kenny-Caffey syndrome type 2

From WikiMD's Wellness Encyclopedia

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]

Autosomal dominant pattern, a 50/50 chance.

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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Contributors: Deepika vegiraju