Mystery congenital condition
December 28, 2010 4:01 PM   Subscribe

A late friend of mine had a very rare genetic disability, which he never liked to go into great detail about. I'd like to know what it was. The condition had some very distinctive characteristics.

My friend (fake name: Tim) had dyslexia (affecting illiteracy), motor problems and speech problems, but was otherwise fully functional mentally. Tim had a somewhat malformed figure, with an arched back, small stature, and general asymmetry in his face and body. He walked with a limp and usually relied on a cane or crutches. Tim also wore glasses, and said he was blind without them.

He died of complications before his 29th birthday, and I'd heard that he hadn't been expected to live through childhood.

Tim had once explained to me that his condition was singular to Jews. Both of his parents were Jewish, and Tim had heard that the issue went back to an ancient incident of inbreeding or close breeding that had resulted in a genetic issue that was rare (ie recessive enough to skip many, many generations) but enduring in predominately Jewish bloodlines. I include this tidbit because I think it'll help pinpoint the exact condition, whether it's entirely true or not.

Any ideas?

I'd just like to say that Tim was a thoughtful, funny, warm man who I was grateful to know. I made this post out of curiosity: to better understand the life and untimely death of a good buddy.
posted by es_de_bah to Health & Fitness (11 answers total) 1 user marked this as a favorite
This article reviews Ashkenazi Jewish genetic disorders.
posted by ClaudiaCenter at 4:09 PM on December 28, 2010

Tay-Sachs disease is a possibility. He may have had the juvenile, not infantile, type.
posted by BlahLaLa at 4:10 PM on December 28, 2010 [1 favorite]

I'm sorry for the loss of your friend.

It sounds like it could have been Tay-Sachs, which is most frequent in those of Jewish descent. Most don't survive through childhood, but it can happen. It would explain the near blindness and possibly the reason he limped (muscle weakness, motor skill issues). I'm not sure if there is any relationship between Tay-Sachs and dyslexia.
posted by dayintoday at 4:11 PM on December 28, 2010

The Jewish Genetic Disease Consortium is also an excellent place to start for exactly this sort of thing.
posted by AngerBoy at 4:13 PM on December 28, 2010

another vote for Tay-Sachs
posted by custard heart at 4:13 PM on December 28, 2010

This site also lists a number of Jewish genetic diseases. Of the diseases listed, Fanconi Anemia sounds plausible, but I don't really know.
posted by cabingirl at 4:14 PM on December 28, 2010

I'm sorry about your friend. He sounds like he was a wonderful guy.

Based on the link ClaudiaCenter provides above, Fancomi anemia (Type C or another subtype, perhaps -- I'm not a geneticist) seems plausible.
About 60-75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Median age of death was 30 years in 2000.
This national foundation lists similar symptoms, but nothing about mobility problems because of asymmetry or leg problems.
posted by maudlin at 4:17 PM on December 28, 2010

The link provided by cabingirl mentions limb and skeletal abnormalities, so Fancomi Anemia looks to be a better match now.
posted by maudlin at 4:19 PM on December 28, 2010

Wikipedia claims: "90% of the Ashkenazi children born with Fanconi's have no thumbs." That's worth considering, if Tim's parents were Ashkenazi (meaning from Eastern Europe, not Spain or the Middle East -- and most North American Jews are) and wiki's claim is true.
posted by reren at 6:07 PM on December 28, 2010

Best answer: After reading through the disorders on the Jewish Genetic Disease Consortium website, it sounds like he had Familial Dysautonomia (FD), also called Riley-Day Syndrome. The following characteristics seemed to match the description you gave:

· Absence of tears / corneal drying (causing severe vision problems)
· Swallowing & feeding problems (speech difficulties)
· Poor muscle tone
· Short stature
· Delayed developmental milestones: motor, language, social
· Spinal curvature
· Osteoporosis and osteopenia
· despite generally normal intelligence, can experience learning difficulties including auditory
processing disorders, problems with writing, apraxia (motor planning), and may appear to be
on the autism spectrum (according to this website).

Les than 50% of individuals with FD live to 30.

My condolences on the loss of your friend.
posted by cdg7707 at 10:28 PM on December 28, 2010

Response by poster: cdg7707, now that you mention it, I remember him talking about his eyes not being able to tear. Thank you, and thanks to everyone else who helped.
posted by es_de_bah at 3:02 PM on December 29, 2010

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