What is Baller Gerold syndrome?
General Discussion. Baller-Gerold syndrome (BGS) is a rare genetic disorder that is apparent at birth (congenital). Common features of BGS include a distinctive misshaped appearance of the skull, facial (craniofacial) area and bones of the forearms and hands.
What is muenke?
Muenke syndrome is a genetic form of craniosynostosis – the early closing of 1 or more of the soft, fibrous seams (sutures) between the skull bones. Muenke is pronounced MUN-kuh.
What does charge syndrome stand for?
CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
What causes Muenke syndrome?
Muenke syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. This affects how certain cells in the body – including bone cells – grow, divide and die.
Is there a cure for Muenke syndrome?
Surgical Treatment The treatment of Muenke syndrome is focused on correction of the abnormal skull shape and mirrors the treatment of coronal craniosynostosis. Surgical correction is most often done between 6 and 12 months of age.
What causes CHARGE syndrome?
The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12. 2 where the CHD7 gene is located. Among 119 French children with CHARGE syndrome, CHD7 mutations were found in 83% of typical CHARGE syndrome individuals, and 58% of atypical cases.
What is the life expectancy of a child with CHARGE syndrome?
Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis).
How is Bloom syndrome caused?
Bloom syndrome is caused by a mutation (change) in the BLM gene that causes cells to have abnormal breaks in the chromosomes. Also called Bloom-Torre-Machacek syndrome.
What is Ashkenazi inheritance?
How are Ashkenazi Genetic Diseases Inherited? For a child to develop one of the genetic diseases prevalent among Ashkenazi Jews, they must inherit two mutations for the same disease. In every living person, genes are paired – in each pair, one gene comes from the mother and the other comes from the father.
Is Noonan syndrome more common in one ethnicity?
It’s estimated that between 1 in 1,000 and 1 in 2,500 children are born with Noonan syndrome. It affects both sexes and all ethnic groups equally.
What causes syndromic craniosynostosis?
Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. It can range from mild to severe.