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Greig Cephalopolysyndactyly Syndrome
Wednesday, 21 September 2005
Wednesday, 21 September 2005
Greig Syndrome, Cephalopolysyndactyly Syndrome

What

Greig Cephalopolysyndactyly Syndrome is a syndrome in which the head, face and limbs develop abnormally. There may be extra fingers or toes, fused fingers or toes, increased distance between the eyes, and/or an enlarged head. This syndrome is sometimes caused by a gene that was inherited from a parent in an autosomal dominant manner, which means that a child will develop the condition if he or she acquires one abnormal copy of a gene from either parent.

Who

Greig Cephalopolysyndactyly Syndrome does not seem to affect a specific population. It occurs equally in males and females. This syndrome is rare, but exactly how often it occurs is not known.

Signs and Symptoms

Several of the following characteristics may be seen in a person with this syndrome, but not all may be present. • Polydactyly (extra fingers or toes) • Syndactyly (fused fingers or toes) • Ocular hypertelorism (increased distance between the eyes) • Macrocephaly (enlarged head) • Frontal bossing (protrusion of the forehead) • High forehead In severe cases of Greig Cephalopolysyndactyly, there may be seizures, developmental delay or learning problems.

Possible Causes

Some cases of Greig Cephalopolysyndactyly Syndrome are caused by a gene with a change or mutation that is inherited from a parent. The gene that causes these abnormalities is named GLI3 and is located on chromosome 7. This is an autosomal dominant disease, which means that a child will develop the condition if he or she inherits one copy of an altered gene from either one of the parents. However, Greig Cephalopolysyndactyly Syndrome can also occur spontaneously and without any previous person in the family having Greig Cephalopolysyndactyly Syndrome.

Diagnosis

The diagnosis for Greig Cephalopolysyndactyly Syndrome involves physical examination, family history and genetic testing. The physical exam is important to determine which parts of the body are involved and some facial features can be very subtle. Genetic testing for the changes in the GLI3 gene is only available on a research basis.

Treatment

Many people with Greig Cephalopolysyndactyly Syndrome do not need any surgery to correct the abnormalities. Surgical intervention may be needed if there is an extra thumb since it may affect the hand grip. Extra toes may be amputated in order to make shoes fit better. Some may have hydrocephalus, an excessive amount of fluid in the skull, causing a gradual increase in head circumference. This excess fluid must be eliminated in order to prevent further injury to the brain. Those who develop seizures will need to be treated with anti-seizure medications.

Prognosis

The prognosis of this syndrome is good. Many will live normal lives with only minor problems throughout their lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

FACES: The National Craniofacial Association:
This organization provides information and support to individuals and families affected with craniofacial abnormalities.

Children’s Craniofacial Association
This organization provides information and support to individuals and families affected with craniofacial abnormalities.

WebMD
This webpage has a list of organizations that one may contact for further information.

Google Search for Greig Cephalopolysyndactyly Syndrome

References and Sources

Biesecker LG (2003). Greig Cephalopolysyndactyly Syndrome. www.genetests.org/profiles/gcps Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG (2003). Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet. Dec 15;123A(3):236-42. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M (2003). Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet. Jul 1;120A(1):49-58.