Jarcho Levin Syndrome

[angellady24]

Could use andy information about Jarcho Levin Syndrome. Thank you.

[sirI, MSN, APRN, NP]

Could use andy information about Jarcho Levin Syndrome. Thank you.

This is a very rare genetic disorder. The infant is recognizable at birth with this, too. Distinct abnormalities of the spine/ribs. The neck is short and range of motion is most limited. They have short stature.

These babes are usually plagued with respiratory problems, such as pneumonia secondary to the respiratory insufficiency. The fused vertebrae do not allow the lungs to properly expand. Most of the time, the pneumonia and other comorbid dz's are fatal.

Many of these infants have other abnormalites such as, imperforate orifice, undescended testicles, hydonephrosis, congential heart dz.

Mortality rate is high, normally the infants die withing the first year of life secondary to respiratory involvement. But, there are those that live through adulthood with MINIMAL problems. It is so unpredictable. There are different subtypes of the disorder that range in severe abnormalities and early death to minimal involvement.

This disorder has other names, too: Spondylothoracic dysostosis, Spondylothoracic dysplasia, autosomal recessive 1, occipitofacial-cervicothoracic-abdominodigital dysplasia, .....and others.

This is a very scaled down account of Jarcho Levin syndrome.

I hope this has helped you.

[prmenrs, RN]

http://www.amazon.com/exec/obidos/tg/detail/-/0721661157/qid=1125784413/sr=1-2/ref=sr_1_2/102-5006933-6649725?v=glance&s=books

Find a copy of this book. It will tell you the essentials.

And here is another link: http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=337

[suebird3]

Hi! Try NORD. Specializes in rare diseases.