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Apert Syndrome News, Research and Latest Updates

Keep abreast with the latest news related to Apert Syndrome there are 273 news items on Apert Syndrome that covers updates, breakthroughs and in-depth reports.

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Apert Syndrome

Apert syndrome is a rare inherited condition marked by abnormal shape of the face and skull due to premature fusion of the bones, and webbing of hands and feet.

Research Shows How Genetic Mutations Disrupt ALS-linked Protein

Research Shows How Genetic Mutations Disrupt ALS-linked Protein

Study shows how ALS-linked mutations disrupt the protein TDP-43 at the atomic level, preventing it from executing its function.

Genetic Mutations Linked to Synchronous Colorectal Cancer Identified

Genetic Mutations Linked to Synchronous Colorectal Cancer Identified

Synchronous colorectal cancers are two primary tumors that originate and develop independently in around two to five percent of colorectal cancer cases.

FDA Approves Addition of Folic Acid to Corn Masa Flour to Prevent Birth Defects in Hispanic Population

FDA Approves Addition of Folic Acid to Corn Masa Flour to Prevent Birth Defects in Hispanic Population

Addition of folic acid to corn masa flour may lower the incidence of neural tube defects in Hispanic populations, whose staple diet is made of the flour.

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Anti-Epileptic Drug Linked to Birth Defects When Taken With Other Drugs

Anti-Epileptic Drug Linked to Birth Defects When Taken With Other Drugs

The use of topiramate, at least in combination with other anti-epileptic medications, ought to be used with caution in women who plan to become pregnant.

Uncategorized Genetic Mutations in Cystic Fibrosis

Uncategorized Genetic Mutations in Cystic Fibrosis

Cystic Fibrosis is a progressive genetic disease that causes persistent lung infections, clogs the airways and limits the ability to breathe over time.

Genetic Mutation Leading to Multiple Sclerosis Identified

Genetic Mutation Leading to Multiple Sclerosis Identified

An estimated 100,000 Canadians are living with MS, and the disease is most often diagnosed in young adults, aged 15 to 40.

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Birth Defects Major Cause Of Still Births and Neonatal Mortality: WHO

Birth Defects Major Cause Of Still Births and Neonatal Mortality: WHO

The web-based surveillance is a network of 150 hospitals in eight countries with the support of Centre for Diseases Control and Prevention, US.

France Reports 450 Cases of Birth Defects Due to Anti-Epileptic Drug

France Reports 450 Cases of Birth Defects Due to Anti-Epileptic Drug

The anti-epileptic drug has been flagged for several years due to the high risk of birth defects but also for increased risks of mental retardation and autism.

Birth Defects Caused by Smoking

Birth Defects Caused by Smoking

Smoking is the root cause to various health problems. But in pregnancy, there are additional birth effects on the baby.

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Program of Excellence for Rare Genetic Disorder Affecting Kids

Program of Excellence for Rare Genetic Disorder Affecting Kids

University of Pennsylvania has established a Program of Excellence to develop treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder.

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Novel Method to Evaluate Children With Rare Skull Abnormality

Novel Method to Evaluate Children With Rare Skull Abnormality

A new method to help determine when surgery is needed for children with metopic craniosynostosis has been developed by researchers.

One Gene Linked With Craniosynostosis, Delayed Tooth Eruption and Supernumerary Teeth

One Gene Linked With Craniosynostosis, Delayed Tooth Eruption and Supernumerary Teeth

A new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption and extra teeth has been identified by researchers.

Quiz on Genetic Disorders

Quiz on Genetic Disorders

genetic mutations and these mutations may be small, affecting just one gene or affecting entire chromosomes. Such mutations may develop spontaneously or they may be inherited from either parent. The consequences of such genetic disorders can vary ...

Genetic Testing of Diseases

Genetic Testing of Diseases

Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques

Stickler Syndrome

Stickler Syndrome

Stickler Syndrome is a rare genetic disorder which causes multisystem disorders predominantly affecting vision, joints, and heart.

Craniosynostosis

Craniosynostosis

Craniosynostosis is a condition where the bones of the skull are fused together prematurely affecting the development of the skull.