Busy. Please wait.
Log in with Clever

show password
Forgot Password?

Don't have an account?  Sign up 
Sign up using Clever

Username is available taken
show password

Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
Your email address is only used to allow you to reset your password. See our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Didn't know it?
click below
Knew it?
click below
Don't Know
Remaining cards (0)
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

Congenital syndrms

CMI - Fall 2011

What is the MC type of inherited hearing loss? Autosomal Recessive (75%)
How many ppl will have sensorineural hearing loss by age 55? 1 in 5
What are some head/facial differences in people with Down Syndrome? Small head for age, flat facial profile, slighly flattened bridge of nose, small nose
What are some ear differences in ppl w/Down Syn? Small, lowset on head, may fold over a bit on top, small ear canals; Very susceptible to ear infex and at ^d risk for hearing loss due to constant fluid in middle ear
What are some eye differences in people with Down Syndrome? Upward slant, epicanthal folds, Brushfield's spots
What are the light spots on the irises of the eyes of some ppl w/ Down Syn called? Brushfields's Spots
What are some mouth differences in people with Down Syndrome? Dental abn, small mouth, low roof of mouth (palate), tongue may appear lg in relation to mouth, may see cleft lip/palate
What are some hand differences in people with Down Syndrome? small, wide, simian crease, pinky fingers curve inward
What is a Simian Crease? A SINGLE crease across the palms in those w/ Down syndrome (instd of ONE)
Why do those with Down syndrome rarely live beyond 60 y.o? Alzheimer-type dementia usually develops in the 4th or 5th decade of life
What is most common -- Cleft lip AND palate, cleft lip, cleft palate? Cleft lip AND palate (50%)
What is it that causes the cleft lip/palate? Plates failing to fuse (at wk 6-11)
Genetic component of cleft lip/palate? Autosomal dominant (usually)
Who is most at risk for cleft lip/palate? Male, Asian, American Indian
What condition is assoc with a mutation of the gene that affects the type IV collagen family of proteins? Alport's
Type IV collagen is a major part of important tissue structures called? Basement membranes (present in all tissues)
Genetic component of Alport's? 80% X-linked
M or F more affected in ALport's? MALES
Kidney failure in the teen years is seen in which condition/inheritance route? Alport's - X-linked, Recessive
Kidney failure that occurs in the 40's in those with Alports is usually d/t which inheritance pattern? Dominant
Which kind of hearing loss may be assoc w/ Down syndrome? Conductive HL
Which kind of HL may be assoc w/ cleft lip/palate? Conductive HL
Which kind of HL may be assoc w/ ALport's? SNHL (not present at birth-but develops in later childhood-b4 kidney failure)
Which syndrome is d/t a gene mutation during fetal dev't and involved in the production of 3 difft types of collagen-which impedes the devt of the collagen? Stickler Syndrome
What is the major risk assoc with Stickler Syndrome? Dislocation (d/t lax jts)
Which kind of HL is assoc w/ Stickler syndrome? SNHL (worsens w/age)
What is another name for Oculoauricular dysplasia (OAV)? Goldenhar Syndrome
How is goldenhar syndrome inherited? Sporadically or Auto Dom
What is the devt issue with goldenhar syndrome? Abn devt of 1st and 2nd branchial/pharyngeal arches, on ONE side of the face
MVP may be assoc w/ which condition? Stickler syndrome
What kind of HL is assoc w/ goldenhar synd? CHL
Hypoplasia of face, pinna, middle ear, preauric pits or tags, and congenital hrt dz are assoc w/ which condition? Goldenhar syndrome
When can the jaw and pinna be fixed in someone w/ goldenhar synd? Begin to fix: Jaw at age 3; Pinna at age 6
Treacher collins synd involves an alteration in which chromosome? 5
HOw is treacher collins synd inherited? Auto dom; 60% new mutations
What kind of HL is treacher collins synd assoc w/? CHL (d/t malformed ears)
Hypoplasia of zygoma and mandible causing possible probs with eating/chewing/sucking is seen with which condit? Treacher Collins synd
Those w/ treacher collins synd are usually of NL intell...they can outgrow their probs by? Proper early nutrition, education, surgery
How does a conductive hearing aid work? Sits on mastoid process and transmits sounds thru bone to get to nerve (bc nerve is working fine)
Created by: ferrier.kath
Popular Clinical Skills sets




Use these flashcards to help memorize information. Look at the large card and try to recall what is on the other side. Then click the card to flip it. If you knew the answer, click the green Know box. Otherwise, click the red Don't know box.

When you've placed seven or more cards in the Don't know box, click "retry" to try those cards again.

If you've accidentally put the card in the wrong box, just click on the card to take it out of the box.

You can also use your keyboard to move the cards as follows:

If you are logged in to your account, this website will remember which cards you know and don't know so that they are in the same box the next time you log in.

When you need a break, try one of the other activities listed below the flashcards like Matching, Snowman, or Hungry Bug. Although it may feel like you're playing a game, your brain is still making more connections with the information to help you out.

To see how well you know the information, try the Quiz or Test activity.

Pass complete!
"Know" box contains:
Time elapsed:
restart all cards