Beckwith-Wiedemann syndrome (patient information): Difference between revisions
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{{Template:Beckwith-Wiedemann syndrome (patient information)}} | |||
'''For the WikiDoc page for this topic, click [[Beckwith-Wiedemann syndrome|here]]''' | '''For the WikiDoc page for this topic, click [[Beckwith-Wiedemann syndrome|here]]''' | ||
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==Overview== | ==Overview== | ||
Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms. | Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes [[large body size]], [[large organs]], and other symptoms. | ||
==What are the symptoms of Beckwith-Wiedemann syndrome?== | ==What are the symptoms of Beckwith-Wiedemann syndrome?== | ||
* [[Abdominal wall defect]]: [[umbilical hernia]] or [[omphalocele]] | * [[Abdominal wall defect]]: [[umbilical hernia]] or [[omphalocele]] | ||
* Creases in ear lobes | * [[Creases in ear lobes]] | ||
* Enlargement of | * [[Enlargement of organs]] and tissues | ||
* External ear (pinna) abnormalities and [[low-set ears]] | * External ear (pinna) abnormalities and [[low-set ears]] | ||
* Large size for a newborn ([[large for gestational age]]) | * Large size for a newborn ([[large for gestational age]]) | ||
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* [[Large tongue]], sometimes protruding | * [[Large tongue]], sometimes protruding | ||
* [[Lethargy]] | * [[Lethargy]] | ||
* Low blood sugar ([[hypoglycemia]]) | * [[Low blood sugar]] ([[hypoglycemia]]) | ||
* Mild [[microcephaly]] | * Mild [[microcephaly]] | ||
* [[Poor feeding]] | * [[Poor feeding]] | ||
* Separated abdominal muscles ([[diastasis recti]]) | * [[Separated abdominal muscles]] ([[diastasis recti]]) | ||
* [[Seizures]] | * [[Seizures]] | ||
* Undescended testicles ([[cryptorchidism]]) | * [[Undescended testicles]] ([[cryptorchidism]]) | ||
==What are the causes of Beckwith-Wiedemann syndrome?== | ==What are the causes of Beckwith-Wiedemann syndrome?== | ||
* The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. | * The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. | ||
* Most cases are associated with a defect in chromosome | * Most cases are associated with a defect in [[chromosome 11]]. | ||
==Diagnosis== | ==Diagnosis== | ||
* Blood tests for low sugar and other abnormalities | * Blood tests for [[low blood sugar]] and other abnormalities | ||
* Chromosomal studies for abnormalities in chromosome 11 | * [[Chromosomal studies]] for abnormalities in [[chromosome 11]] | ||
* [[MRI]] or [[CT scan]] of the abdomen | * [[MRI]] or [[CT scan]] of the abdomen | ||
* [[Ultrasound]] of the abdomen | * [[Ultrasound]] of the abdomen | ||
* [[X-ray]] of the abdomen | * [[X-ray]] of the abdomen | ||
* X-ray of the long bones | * X-ray of the long bones | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately. | If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately. | ||
==Treatment options== | ==Treatment options== | ||
* Infants with low blood sugar may be treated fluids given through a vein ( intravenous solutions). | * Infants with [[low blood sugar]] may be treated fluids given through a vein ( intravenous solutions). | ||
* Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors. | * Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors. | ||
==Where to find medical care for Beckwith-Wiedemann syndrome?== | ==Where to find medical care for Beckwith-Wiedemann syndrome?== | ||
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hydrophelus}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Beckwith-Wiedemann syndrome] | [http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hydrophelus}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Beckwith-Wiedemann syndrome] | ||
==Prevention of Beckwith-Wiedemann syndrome== | ==Prevention of Beckwith-Wiedemann syndrome== | ||
* There is no known prevention for Beckwith-Wiedemann syndrome. | * There is no known prevention for Beckwith-Wiedemann syndrome. | ||
* Genetic counseling may be of value for families who would like to have additional children. | * [[Genetic counseling]] may be of value for families who would like to have additional children. | ||
==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
* Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. | * Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. | ||
Latest revision as of 02:26, 31 July 2012
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Beckwith-Wiedemann syndrome |
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Beckwith-Wiedemann syndrome On the Web |
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Directions to Hospitals Treating Beckwith-Wiedemann syndrome |
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Risk calculators and risk factors for Beckwith-Wiedemann syndrome |
For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant-Editor-In-Chief: Kalsang Dolma, M.B.B.S.[2]
Overview
Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.
What are the symptoms of Beckwith-Wiedemann syndrome?
- Abdominal wall defect: umbilical hernia or omphalocele
- Creases in ear lobes
- Enlargement of organs and tissues
- External ear (pinna) abnormalities and low-set ears
- Large size for a newborn (large for gestational age)
- Large, prominent eyes
- Large tongue, sometimes protruding
- Lethargy
- Low blood sugar (hypoglycemia)
- Mild microcephaly
- Poor feeding
- Separated abdominal muscles (diastasis recti)
- Seizures
- Undescended testicles (cryptorchidism)
What are the causes of Beckwith-Wiedemann syndrome?
- The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic.
- Most cases are associated with a defect in chromosome 11.
Diagnosis
- Blood tests for low blood sugar and other abnormalities
- Chromosomal studies for abnormalities in chromosome 11
- MRI or CT scan of the abdomen
- Ultrasound of the abdomen
- X-ray of the abdomen
- X-ray of the long bones
When to seek urgent medical care?
If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.
Treatment options
- Infants with low blood sugar may be treated fluids given through a vein ( intravenous solutions).
- Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors.
Where to find medical care for Beckwith-Wiedemann syndrome?
Directions to Hospitals Treating Beckwith-Wiedemann syndrome
Prevention of Beckwith-Wiedemann syndrome
- There is no known prevention for Beckwith-Wiedemann syndrome.
- Genetic counseling may be of value for families who would like to have additional children.
What to expect (Outlook/Prognosis)?
- Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available.
- Mental development appears to be normal to very slightly decreased. Swelling of the tongue can cause problems with feeding and sleeping.
Possible complications
- Development of tumors
- Feeding problems
- Hypoglycemia
- Respiratory difficulties from obstruction due to large tongue
- Seizures