FaCD Online Syndrome Fact Sheet

Last updated: 16 Oct 2009

Name: Craniopharyngioma, Familial

Mode of Inheritance: AR?/AD?/multifact?

Tumor features



Craniopharyngiomas are tumors of suprasellar base of the skull. They are thought to develop from remnants of the craniopharyngeal duct and/or Rathke cleft. A cystic swelling of the pituitary stalk is a usual presentation. Although histology is benign and they are slow-growing, they may invade surrounding tissue and behave malignantly. They are usually sporadic.
A few familial cases have been reported, including affected siblings and an affected parent-child pair[1-5].


[1] Boch AL, van Effenterre R, Kujas M. Craniopharyngiomas in two consanguineous siblings: case report. Neurosurgery 1997; 41(5):1185-7.
[2] Green AL, Yeh JS, Dias PS. Craniopharyngioma in a mother and daughter. Acta neurochirurgica 2002; 144(4):403-4.
[3] Combelles G, Ythier H, Wemeau JL, Cappoen JP, Delandsheer JM, Christiaens JL. [Craniopharyngioma in the same family]. Neuro-Chirurgie 1984; 30(5):347-9.
[4] Hayashi Y, Yamashita J, Muramatsu N, Sakuda K, Nitta H. Symptomatic Rathke's cleft cysts in identical twins. Case illustration. Journal of neurosurgery 1996; 84(4):710.
[5] Vargas JR, Pino JA, Murad TM. Craniopharyngioma in two siblings. JAMA : the journal of the American Medical Association 1981; 246(16):1807-8.