What causes Nijmegen breakage syndrome?

Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. DNA can be damaged by agents such as toxic chemicals or radiation.

What is Nijmegen breakage syndrome like disorder?

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge.

What is Bloom’s syndrome?

Listen to pronunciation. (… SIN-drome) A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer.

What is the difference between Noonan syndrome and Turner syndrome?

However, there are many important differences between the two disorders. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome.

What is Newman’s syndrome?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

Who carries the gene for Noonan syndrome?

In around 30-75% of cases, Noonan syndrome is inherited in what’s known as an autosomal dominant pattern. This means that only one parent has to carry a copy of one of the faulty genes to pass it on, and each child they have will have a 50% chance of being born with Noonan syndrome.

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