FaCD Online Syndrome Fact Sheet

Last updated: 15 Nov 2010

Name: Schinzel-Giedion syndrome

Synonym: SGC, Schinzel-Giedion Midface Retraction syndrome

Mode of Inheritance: de novo /(AR?)

Genes

SETBP1, mapped to 18q21.1

Tumor features (possible)

ependymoma
hepatoblastoma
primitive neuroectodermal tumor (PNET)
sacrococcygeal teratoma
Wilms' tumor (nephroblastoma)

Non-tumor features

cryptorchism
developmental delay/mental deficiency/mental retardation
ears, low-set
ears, malformed
frontal bossing / prominent forehead
groove under the eyes
heart, congenital defect
hypertelorism
hypertrichosis
hypospadia
midface, flat/hypoplastic
nails, hypoplastic
nasal bridge, depressed
neck, short
penis, small
polydactyly, postaxial
renal anomalies
short stature
skeletal dysplasia

Comment

This disorder is characterized by typical craniofacial abnormalities (including hypoplastic midface, prominent forehead and a groove under the eyes), short stature, urogenital anomalies, congenital heart defects, hypertrichosis and mental retardation[1-2]. Hepatoblastoma[2,3], Sacrococcygeal teratoma[4-6], lumbosacral PNET[7,8], Wilms tumor[9] and extradural ependymoma[10] have been reported in patients with this rare disorder.

References

[1] Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1978; 1:361-375.
[2] Al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. The Schinzel-Giedion syndrome. J Med Genet 1990; 27:42-47.
[3] Burck U (1982) Mittelgesichtshypoplasie, Skelettanomalien, Apnoen, Retardierung-eine weitere Beobachtung. Tolksdorf, M. and Spranger, J. Klinische Genetik in der Paediatrie. Wissenschaftliche Information 3. Symposium in Kiel/Germany(Jahrgang 8, Heft 5), Friedrichsdorf, Germany, Milupa, pp 351–358
[4] Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH. New finding of Schinzel-Giedion syndrome: a case with a malignant sacroccygeal teratoma. Am J Med Genet 1993; 47:852-856.
[5] Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V. Schinzel-Giedion syndrome: Report of two sibs. Am J Med Genet 1995; 59:96-99.
[6] Sandri A, Manazza AD, Bertin D, Silengo M, Basso ME, Forni M, Madon E. Schinzel-Giedion syndrome with sacrococcygeal teratoma. Journal of pediatric hematology/oncology 2003; 25(7):558-61.
[7] Rodríguez JI, Jiménez-Heffernan JA, Leal J. Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. American journal of medical genetics 1994; 53(4):374-7.
[8] McPherson E, Clemens M, Hoffner L, Surti U. Sacral tumors in Schinzel-Giedion syndrome. American journal of medical genetics 1998; 79(1):62-3.
[9] Matsumoto F, Tohda A, Shimada K, Okamoto N. Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. International journal of urology 2005; 12(12):1061-2.
[10] Beschorner R, Wehrmann M, Ernemann U, Bonin M, Horber V, Oehl-Jaschkowitz B, Meyermann R, Dufke A. Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. Acta neuropathologica 2007; 113(3):339-46.