Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands.
In infants with Baller-Gerold Syndrome, there is premature fusion of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis). As a result, the head may appear unusually short and wide and/or pointed at the top (turribrachycephaly) or relatively triangular in shape (trigonocephaly). Affected infants may also have a prominent forehead; downslanting eyelid folds (palpebral fissures), small, malformed (dysplastic), low-set ears, and/or other craniofacial abnormalities. Baller-Gerold Syndrome is also characterized by underdevelopment (hypoplasia) or absence (aplasia) of the bone on the thumb side of the forearms (radii). In addition, the bone on the "pinky" side of the forearms (ulnae) is unusually short and curved and the thumbs may be underdeveloped or absent. In some cases, additional physical abnormalities and/or mental retardation may also be present. Baller-Gerold Syndrome is thought to be inherited as an autosomal recessive trait.
Patients with Baller-Gerold syndrome are born with premature closure of the joints or seams (sutures) of the skull causing an upward growth of the head giving it a pointed or cone-shaped appearance. The large bone of the forearm on the opposite side of the thumb (ulnar) is short and curved and the short bone of the forearm on the thumb side (radius) is underdeveloped or missing.
Most patients with Baller-Gerold syndrome are very short and have a nasal bridge that is high. They also have a prominent lower jaw.
Hearing loss, absent or underdeveloped thumbs and bones of the hand, abnormalities of the pelvis and spine, a vertical fold of skin over the inner corner of the eye (epicanthal folds), eyes that are set close together, small abnormally developed ears, skin that sheds and/or mental or motor delay may also be present.
Problems with fine motor skills may be present due to the deformities of the hands and arms.
Baller-Gerold syndrome is caused, in most cases, by a malfunctioning (mutated) gene that has been tracked to a particular site on chromosome 8 known as 8q24.3. Some cases of BGS are the result of an unexpected, spontaneous mutation the cause of which cannot be attributed to the parental transmission (sporadic). In all cases the trait is transmitted by an autosomal recessive inheritance pattern. The responsible gene on chromosome 8 is known as the RECQL4 gene.
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, ‘chromosome 8q24.3″ refers to band 24.3 on the long arm of chromosome 8. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. The risk is the same for males and females.
All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Parents of some individuals with Baller-Gerold Syndrome have been closely related by blood (consanguineous). There is at least one report of a child with many of the features of BGS due to the inhalation of sodium valproate, an anti-convulsive medication sometimes used to control epileptic seizures.
There are too few cases of Baller-Gerold syndrome reported to determine, with any assurance, whether any bias in favor of one gender or another or any preference with regard to ethnicity exists. It is likely that there are between 20 and 30 reported cases.
Treatment of Baller-Gerold syndrome involves surgery to relieve pressure inside the skull due to the craniosynostosis. This can be done by separating the bony sections and lining the seams between them with materials to prevent fusion. The younger the patient is at the time of the surgery the better the results.
Surgery to correct other skeletal deformities may be required and physical as well as occupational therapy may also help in the development of fine motor skills.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
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FROM THE INTERNET
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