Rare Disease Day

I spent all day learning the 4 million metabolic zebras (rare diseases) in celebration of:

http://www.rarediseaseday.org/default.asp?action=link&id=20

Lets play the STEP 1 STUDY GAME ! Its fun I have been playing it all week:

A 5ft 3 inch tall 23 yr old woman presents to your orthopedic clinic with complaints of anterior right hip pain of a three week duration.  She has no recent  history of trauma to the area. She does however have an extensive history of fracture including a right hip fracture 10 years ago. She tells you she has had extensive orthopedic surgeries during her childhood and adolescence. She also had a secondary clef palate repair at 18 months. You notice midface hypoplasia and that the patient wears bilateral hearing aides. You recognize her facial features as consistent with Pierre Robin Syndrome.  You get a x-ray of the hip and notice joint space narrowing and several osteophytes. You realize that this young woman must have a rare connective tissue disease.

1. What pharyngeal arch is involved?  A. 1 B. 2 C. 3 D. 4-6 E. what the heck?

2. What protein is most likely involved? A. Fibrillin B. Collagenase C. Collagen 1 D. Collagen III E. Collagen II

3. After finally just flat out asking the patient what the heck was wrong with her. She tells you she has Kniest Syndrome. You are surprised because the following is paradoxical:

A. Hip involement B. That’s she is still alive, its usually fatal C. She is of average height. D. Usually this disease presents in males. D. Why the heck is this on the boards…I will never see one of these zebras anyways…

Kniest is found in less than 1 in million  births.  It doesn’t show up in my Path flash cards. Sad. It does have a brief mention on a single chart in Robbins.

:::::Runs to frolic gimp-ly in tall grass in honor of Rare Disease Day::::

Answers: 1. A   2.  E 3. C