Top
20
Doctor insights on: Rieger Syndrome

Share
2

2
Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

3

3
What is bardet biedl syndrome?

What is bardet biedl syndrome?

Wow: I have to think back to medical school- best to review with a pediatrician- it is a syndrome that has many characteristic, which can have degrees of severity and may or may not exist among those affected- in other words, not all affected are necessarily alike-: it is genetic, obesity, mental deficiencies, blindness, problems with kidney function, problems with gonads, extra fingers, diabetes, wea. ...Read more

See 4 more doctor answers
4

4
Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

5

5
Did helen keller have usher syndrome?

Did helen keller have usher syndrome?

No: She lost her hearing and eyesight from an acute illness as a child. ...Read more

6

6
Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

7

7
What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

8

8
What is smith lemli opitz syndrome?

What is smith lemli opitz syndrome?

Inherited Condition: 1 / 20, 000- 60, 000 newborns are born w/ this condition which can cause malformations of heart, lungs, kidneys, gut & genitalia. Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. Infants may grow more slowly, have weaker muscle tone, & have feeding issues. ...Read more

9

9
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
10

10
What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

Disembarkment: Is a rare condition occurring after a motion event such as flying. Causes feelings of swaying or rocking, imbalance, fatigue & low concentration (brain fog), headaches, dizziness. Symptoms worsen by stress or lack of sleep or loud noises. Cause unknown. Some benefit from Benzodiazepines & Repetitive Transcranial Magnetic Stimulation. ...Read more

11

11
Is miller syndrome the same as miller fisher syndrome ?

Is miller syndrome the same as miller fisher syndrome ?

No: Miller Syndrome is a rare condition affecting the face and arms- here is a link with more information http://ghr.nlm.nih.gov/condition/miller-syndrome Miller-Fisher syndrome is causes poor muscle coordination and paralysis of the eye muscles - here is a link for MFS http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm ...Read more

12

12
Is munchausen syndrome herreitery?

Possibly: There may be some hereditary predisposition. Munchausen syndrome was reported in two brothers, two twins and couple families. ...Read more

13

13
Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

14

14
What's evans syndrome?

What's evans syndrome?

Anemia: Evans syndrome is a rare type of anemia in which the body makes antibodies that destroys white blood cells, red blood cells and platelets. ...Read more

15

15
Diagnosis of eagle barrett syndrome.?

Diagnosis of eagle barrett syndrome.?

Prune-belly syndrome: Prune-belly or eagle-barrett syndrome is a rare form of fetal obstructive uropathy with reported incidence of 1:20, 000-1:50, 000 births. No definite genetic etiology has been determined, although seen 95% in male fetuses. 10% of affected cases have cardiac defects as well. Many affected individuals perish perinatally from lung hypoplasia and kidney failure - not always lethal, though. ...Read more

16

16
Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

See 1 more doctor answer
17

17
Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

18

18
Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more

20

20
Is down's syndrome a recessive condition?

Is down's syndrome a recessive condition?

No: Down syndrome is not a recessive condition. It is caused by an extra chromosome #21. We normally have a pair (=two copies) of each chromosomes #1-22. Individuals with down syndrome have a third chromosome #21. Thus name "trisomy 21" as well. Here more about mechanism and heritability of down syndrome if you are interested: http://ghr.Nlm.Nih.Gov/condition/down-syndrome. ...Read more

See 2 more doctor answers