Top
10
Doctor insights on: Is Lymphangioma Associated With Downs Syndrome Or Any Other Genetic Disorders

Share
1

1
Is lymphangioma associated with downs syndrome or any other genetic disorders?

Is lymphangioma associated with downs syndrome or any other genetic disorders?

Yes and No: About 70% 0f lymphangiomas are seen associatted with genetic syndromes. It is frequently seen in patients with turner syndrome (x0) & occasionally seen in down syndrome (trisomy 21) and others. It also occurs sporadicly in otherwise normal kids. The largest one i ever saw was locates over the trunk and side of a normal kid. ...Read more

See 1 more doctor answer
Dr. Richard Roberts
214 doctors shared insights

Genetic Disease (Definition)

A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene(s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change(s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result ...Read more


2

2
Can you tell me is hanhart syndrome a genetic disease?

Can you tell me is hanhart syndrome a genetic disease?

Unknown: The Dysmorphologic condition, short tongue and short fingers has unknown etiology but doesn't run in families. The metabolic condition is genetic ...Read more

3

3
What kind of genetic disease is Down syndrome considered?

What kind of genetic disease is Down syndrome considered?

Chromosomal abnormal: Down syndrom is considered a chromosomal abnormality due to the presence of three number 21 chromosomes instead of the normal 2. ...Read more

See 1 more doctor answer
4

4
Is WPW syndrome a genetic disease?

Is WPW syndrome a genetic disease?

Yes: While WPW syndrome is genetic, not every patient behaves or is treated the same way. A good percentage of the WPW population will not need any treatment as they do not have fast heart rates (arrhythmias). At the other end of the spectrum however, live patients with WPW who may need ablation or possibly an icd. The proper course of action is determined by an electrophysiologist usually. ...Read more

See 1 more doctor answer
5

5
Can you tell me about a genetic disease called apert syndrome?

Can you tell me about a genetic disease called apert syndrome?

Genetic condition: Caused by gene changes in FGFR2 mutations which produce fibroblast growth factor receptors which control growth. Characterized by early fusion of the sutures in the skull (soft spot) and webbed hands or toes. Good reference: http://ghr.nlm.nih.gov/condition/apert-syndrome ...Read more

6

6
Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

See 1 more doctor answer
7

7
Help docs, is hanhart syndrome a genetic disease?

Hanhart syndrome: Hanhart syndrome is a rare birth defect which is believed to be sporadic. Currently, there is no known associated gene. ...Read more

8

8
Is cri-du-chat syndrome a common genetic disease?

Is cri-du-chat syndrome a common genetic disease?

Is rare.: This is a rare genetic disorder due to the deletion of chromosome 5p. It is called this due to the so called "cat cry" that these infants make. It occurs in 1 in 50000 live births, throughout all ethnicities, and is seen in females more than males by a 4:3 ratio. ...Read more

9

9
Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

 Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more

10

10
What is the least common genetic disease that is seen in the U.S.?

What is the least common genetic disease that is seen in the U.S.?

Unknown: Some are rarer than one in 100,000. Is continually finding new genetic disordersand we may have no clue with regard to how frequent they are. There are dozens of severe multiple malformation syndromes which are striking but none of the worlds geneticists have a clue with regard to what causes them.how do you estimate a single case in the world's medical literature? ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


Dr. Andy Chung
205 doctors shared insights

Lymphangioma (Definition)

Lymphangiomas are malformations of the lymphatic system that lead to a collection of fluid under the skin. The lymphatic system is a network of vessels that collect the tiny amounts of fluid and protein that normally leak ...Read more