What are the facial features of DiGeorge syndrome?

What are the facial features of DiGeorge syndrome?

In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.

How does DiGeorge syndrome affect a person?

DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. The severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

How long can you live with DiGeorge syndrome?

Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not “complete” survive to adulthood.

What is the most common heart defect in DiGeorge syndrome?

The most common congenital heart defects are called conotruncal lesions and include interrupted aortic arch, truncus arteriosus, and tetralogy of Fallot, ventricular septal defects are also frequently diagnosed in children with 22q11.

What are the common manifestations of DiGeorge syndrome?

Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect. Frequent infections. Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip.

What is the inheritance pattern of DiGeorge syndrome?

Autosomal dominant inheritance In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

Is DiGeorge a disability?

Many children with 22q have some social difficulties, developmental delays or learning disabilities. For the majority, the symptoms are not severe or extensive enough to warrant an autism diagnosis. Individuals with 22q also share common health issues. Many have heart defects and immune problems.

What are the symptoms of DiGeorge syndrome?

Some of the symptoms of Digeorge syndrome are weakness, poor muscular structure, and bluish skin, improper circulation of blood, poor weight gain, and shortness of breath, getting infection frequently, difficulty in feeding and delayed development of the child. For some children, there may be a gap in the cleft palate and retarded speech.

What is the treatment for DiGeorge syndrome?

Since the Digeorge syndrome is inherited by chromosomes, heredity is the main cause for this disorder. There is no permanent cure for this disorder and only the symptoms can be treated. Hypo para-thryoid is treated by giving calcium and vitamin D supplements.

What is other name does DiGeorge syndrome go by?

DiGeorge syndrome also goes by a couple other names, including velocardiofacial syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome. There are also a couple other health conditions, called autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome, that are more common in people with DiGeorge syndrome.

How prevalent is DiGeorge syndrome?

DiGeorge syndrome occurs very sporadically. The prevalence is the subject of much debate; however, current estimates of the incidence range from 1:4000 to 1:6395.