One in a million

[JeanettePNP, MSN, RN, NP]

Post here about some very rare conditions or diagnoses you've seen.

No identifying patient details... just about the condition itself.

Yesterday I had a patient with Miller syndrome.

Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.

Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.

People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.

Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine.

Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature.

I am embarrassed to admit that when I first examined the patient I completely failed to notice that he had 4 fingers on each hand! The resident who was with me had seen the patient before and knew about his Miller syndrome and pointed out some other features that this patient had. It was a good wake-up call for me about how to do a full physical assessment.

[nurseprnRN, BSN, RN]

http://en.wikipedia.org/wiki/Creutzfeldt%E2%80%93Jakob_disease

Nasty, nasty.

And I picked up a case of Kawasaki syndrome once, when the kid's docs had no clue.

[dansamy]

I've taken care of an Ehlers Danlos patient. He was really interesting.

We also have a frequent flyer with Angel man syndrome.

And another that has MCAD? I think.

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[OlivetheRN, ADN, BSN, RN]

When I was in my final semester of clinicals for school, I had a patient with situs inversus totalis. I was majorly confused when I heard his heart sounds on the right instead of the left. I must have had a look on my face because when I was done, he said, "Oh, by the way, my major organs are flipped." THAT threw me for a loop.

[prmenrs, RN]

Soft palate cleft no one else noticed. Baby help me a lot by opening her mouth really big right under the bili light. But I still 'scored' when the docs came on rounds. After all, she was too young to talk.

[letsbefriends]

Well it's not one in a million per se but I had a patient who had Guillain Barre syndrome.

[Bortaz, MSN, RN]

Potters Syndrome.

Trisomy 9.

[FDW630]

http://en.wikipedia.org/wiki/Creutzfeldt%E2%80%93Jakob_disease

Nasty, nasty.

My husband's uncle passed away from this several years ago. So, so sad.

[LadyFree28, BSN, LPN, RN]

Wolf Hirschhorn Syndrome

http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome

Kabuki Syndrome

http://en.m.wikipedia.org/wiki/Kabuki_syndrome

And Miller Syndrome's distant genetic "cousin"-

Nager Syndrome: http://en.m.wikipedia.org/wiki/Nager_acrofacial_dysostosis

[roser13, ASN, RN]

Walking Corpse syndrome.

[JustBeachyNurse, LPN]

Ehrlers Danlos with cerebral palsy

Poland Syndrome

[dansamy]

Cri du chat & trisomy 18

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