Jacobsen Syndrome

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Jacobsen Syndrome Ashley Osborne Quesha McClanahan Orchi Haghighi

description

Jacobsen Syndrome . Ashley Osborne Quesha McClanahan Orchi Haghighi. is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. - PowerPoint PPT Presentation

Transcript of Jacobsen Syndrome

Page 1: Jacobsen Syndrome

Jacobsen Syndrome

Ashley Osborne Quesha McClanahan

Orchi Haghighi

Page 2: Jacobsen Syndrome

• is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1.

• It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder.

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Young girl with Jacobsen Syndrome from Clermont, Florida.

• Other common medical complications include recurrent infections, decreased platelet count

• The syndrome derives its name from a Danish physician, Dr. Petra Jacobsen, who first described an affected child in 1973.

• One copy of chromosome 11 is missing so an affected person has one out of a possible two copies of the genes in that region.

• It is the loss of these genes that leads to the multiple problems found in Jacobsen syndrome.

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Symptoms • Individuals with

Jacobsen syndrome have a distinctive physical appearance. The face is characterized by wide-spaced eyes (hypertelorism), droopy eyelids (ptosis), redundant skin covering the inner eye (epicanthal folds), a broad or flat nasal bridge, a short nose with upturned nostrils, a small chin (micrognathia), low-set ears, and a thin upper lip.

Hypertelorism- upper left & Ptosis- upper rightEpicathal Folds- bottom left & Micrognathia- bottom right

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• Children with Jacobsen syndrome usually have some degree of mental retardation, ranging from mild to severe.

• Nearly all affected individuals also have decreased muscle tone (hypotonia) or increased muscle tone (hypertonia) as well as motor delays. Occasionally, brain abnormalities are present.

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• Multiple types of physical abnormalities are known to occur in individuals with

Jacobsen syndrome.• Congenital heart disease is present in about half of

affected children • Other common internal

abnormalities include pyloric stenosis,

undescended testes, inguinal hernia, kidney defects, urinary tract

abnormalities, craniofacial abnormalities, and

external ear anomalies are frequent.

Craniofacial Abnormalities

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• There are a variety of other health problems found in individuals with

Jacobsen syndrome. Illnesses including recurrent respiratory

infections• Also gastrointestinal problems such

as gastroesophageal reflux and chronic constipation may occur.

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Causes• It is caused by

the loss of a small portion of a chromosome at conception.

• In Jacobsen syndrome a small piece of the 11th chromosome is missing (or deleted) and this causes a range of clinical features in individuals with this condition.

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• The features are related to the genes that are absent from the small piece of chromosome 11 that is missing.

• The reason for the loss of the piece of chromosome is not fully understood.

• Jacobsen syndrome occurs more frequently in females than males.

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Diagnosis • Most individuals with

Jacobsen syndrome are diagnosed after birth. The diagnosis is usually made through a blood test called chromosome analysis in an infant or child who has mental retardation and a typical facial appearance.

• The karyotype will show a deletion or rearrangement of the longer segment, known as the q arm, of one copy of chromosome 11.

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• Jacobsen Syndrome can be diagnosed before birth. There have been reports of prenatal diagnosis through amniocentesis after an ultrasound demonstrated one or more fetal abnormalities.

• Another technique, known as FISH (fluorescent in-situ hybridization), may be used to further define the chromosome 11q deletion breakpoints

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Treatment• Varies depending on the severity that may

develop• Services and Programs

-Physical and Speech Therapy

-Social, Vocational and Medical services

-Educational Support• Surgery• Genetic counseling

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Impact• Family is emotionally disturbed• Many join a support group • Impacts learning disabilities and your ability to

take care of yourself• Mobility