LIVING WITH LARSEN SYNDROME
PART ONE
What is Larsen Syndrome
What is Larsen Syndrome
WRITTEN BY :
TAWNY MULLINS
Let me see, I was trying to figure out where to start this. I want to explain what life is like living with LRS (Larsen Syndrome). I want people to understand what LRS is. I also want people to understand that even though some of us may have a disability; and it doesn't even have to be LRS, that our lives and dreams are often the same as anyone who has nothing wrong with them. I mean, YES , there maybe some differences but not as much as some people choose to believe. Even though, in some ways life is easier for us. And I also want to discuss that in some ways people with disabilities make it harder on themselves.
I will try my best to explain what life has been like for me, what it has been like for my twin daughters that inherited LS from me, and I will also try to explain what it has been like for my son that may or may not carrying the recessive gene ( which we are going to have testing done, so that we know for sure), all of this being from my point of view. Then, I will be telling you from my daughters' words what it is like for them; as well as from my son's words what it is like for him to grow up with having family members with LRS. And even some, hopefully, from my friends and family on what they feel and what it is/was like for them.
I will begin by telling you what LRS (Larsen Syndrome) actually is. First thing; it is a very rare genetic-congenital disorder that was discovered by Dr. Larsen in 1950 when he observed the dislocation of the large or major joints and the face defects / anomalies in 6 of his patients. LS is a mutation in the FLNB gene. Larsen Syndrome affects the development of the bones throughout the body. And now as they are finding out, other systems of the body as well. The signs and symptoms of LRS vary widely even within the same family. (As you will see later within my own family when we list our symptoms for you.
Here is a list of symptoms for you:
1. inward and / or upward turning feet
also known as being club-footed
2. dislocations of the hips
3. anterior dislocation of the knees
4. dislocation of the elbows
5. small extra bones in the wrists
6. small extra bones in the ankles
(5 and 6 are visible in x-rays)
7. tips of their fingers, especially their thumbs,
are typically blunt and have a square shape to them which is called Spatulate
8. unusually large range of joint movement called Hypermobility
9. short stature
10. abnormal curvature to their spine called Kyphosis or Scoliosis.
This may compress the spinal cord and lead to weakness of the limbs,
or cause them to become Paraplegic or Quadriplegic.
11. prominent forehead called a Frontal Bossing.
12. flattening of the bridge in their nose
13. flattening of the middle of their face,
912 and 13 are called Midface Hypoplasia)
14. wide set eyes called Ocular Hypertelorism.
15. opening in the roof of their mouth that is called a Cleft Palate.
16. have hearing loss that is caused by the malformations in tiny bones that are in the middle ear called Ossicles.
17. respiratory problems caused by the airways being weak and can lead to
partial closing or causing short pauses in breathing called Apnea or
commonly referred to as Sleep Apnea.
18. frequent respiratory infections
19. frequent ear infections.
20. connective tissue disorder
21. dislocation of the shoulders
22. elongation of the aorta
23. bicuspid aortic valve
24. subaortic stenosis
25. mitral valve prolapse with mitral regurgitation
26. atrial septal defect
27. patent ductus arteriosus
28. tricuspid valve prolapse
29. aortic dissection and aneurysm
30. aneurysm of ductus arteriosus
31. Cataracts
32. laryngomalacia
33. Malocclusion
34. Microdontia
35. hypodontia
36. Complete agenesis of anus
37. Bifid uterus
38. Bifid tongue
39. syndactyly
40. short metacarpals
41. hydrocephalus
42. abnormalities of spinal segmentation
43. short terminal phalanges
44. juxtacalcaneal accessory ossification center
45. abnormal vertebrae
46. atlantoaxial dislocation
47. narrowing of subdural space at the apex of the kyphosis
48. acid reflux
49. gastorial reflux
50. burr holes in the brain
51. stomach problems
52. intestinal problems
53. mental retardation
54. abnormal softening of cartilage of the windpipe (trachea) called tracheomalacia
55. atelosteogenesis
56. laryngotrachiomalacia
57. learning disabilities
58. developmental delay
59. short nails
60. multiple carpal ossification center
61. talipes equinovalgus
62. talipes varus
63. dysraphism
64. spina bifida
65. wedged vertebrae
66. lordosis
67. spondylosis
68. dysraphism of sacral spine
69. delayed ability to walk
70. webbed toes
71. webbed hands
72. drawn up hands
73. elasticity in the skin
74. elasticity of the muscles
75. elasticity of the nerves
76. elasticity of the tendons
77. elasticity of the ligaments
78. pulmonary hypoplasia
79. seizures
80. problems with anesthesia
81. heart murmur
82. COPD
83. aorta rupturing / tearing
84. arrhythmia
85. bronchial asthma
86. arthritis
87. carpal tunnel
88. tendonitis
Remember the above list is syptoms of LRS that doesn't mean that someone will have every single one of them and just because someone may have one or two of them, or even five to seven of them does not mean that have Larsen Syndrome. They are also finding new symptoms with new patients and older patients as they age.
This rare disorder is caused by a genetic defect in the gene encoding Filamin B, this is a cytoplasmic protein that is important to regulating the structure and activity of the Cytoskeleton. The gene that has influence on the emergence of LS is found in the chromosome region 3p21.1-14.1. This region contains the Human type VII collagen gene. LS has been also described as a Mesenchyme disorder that affects the connective tissue of an individual.
Both Autosomal Dominant and Recessive forms of LRS have been reported, in most cases it is found that the person has the Autosomal Dominant form. Reports of LRS have been found in the Western Societies. It is found in about 1 in every 100,000 births. But, more than likely this is a greatly underestimated because so many have still not been diagnosed or been misdiagnosed with another disorder. Cardiac defects are similar to those associated with the disease called Marfan's Syndrome, which is another disorder of the connective tissue. There is also a very lethal form of LS that has been reported. This form is described as being a combination of the Larsen Phenotype and of the Pulmonary Hypoplasia. People with LRS can survive into their adulthood and intelligence in unaffected most of the time.
Here is a list of links that you can look at that give a whole lot more information on Larsen Syndrome, and believe when I say that I just barely touched on the subject. I only list the first 6 pages on google. There are plenty more if you want to look them up. Each link has things in common about LS. But some stuff is different as well. It seems like none of the them give you the whole story about Larsen Syndrome. These links have medical journals, other blogs, and yes even a video from Youtube.
http://wordsiwheelby.com/2014/05/mothers-day-reflection/ a friend and fellow blogger with LS ghr.nlm.nih.gov/.../larsen-syn...
en.wikipedia.org/wiki/Larsen_syndrome
www.chop.edu/.../larsen-syndrome
www.omim.org/.../150250
www.webmd.com/children/larsen-syndrome
www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=503
rarediseases.org/.../larsen-syndr...
www.rightdiagnosis.com/l/larsen_syndrome/intro.htm
www.orthobullets.com/pediatrics/4090/larsens-syndrome
www.wow.com/Larsen+Syndrome+Pictures
medind.nic.in/icb/t05/i12/icbt05i12p1053.pdf
radiopaedia.org/articles/larsen-syndrome
jmg.bmj.com › Volume 43, Issue 5
https://summers3.wordpress.com/ this is another blog that I found
www.brighthub.com › Science › Genetics › Genetics of Disease
www.merriam-webster.com/.../larsen's%20syndrome
www.lifescript.com/Health
www.acpoc.org › ... › ACPOC News 2002 Vol 8, Num 1
wordsiwheelby.com/2013/10/mother-daughter-same-disability/ another blog
jdm.sagepub.com/content/28/5/240.abstract
www.youtube.com/watch?v=k9Ts8jXw5mI this is a video
www.oandp.com/articles/2013-12_07.asp
www.jpeds.com/article/S0022...8/abstract
link.springer.com/.../10.1007%2FBF00...
www.cafamily.org.uk/medical.../l/larsen-syndrome/
www.spine-deformity.org/article/S2212-134X(12)00009-3/abstract
web.memberclicks.com/mc/page.do?sitePageId=68902&orgId...
www.aapd.org/assets/1/25/Chien-17-01.pdf
www.scielo.br/scielo.php?script=sci_arttext&pid=S1807...
www.ineip.org/content/abstract/.../pp046-14-larsen-syndrome-seizure-ca...
https://makingcontact.org/index.php?ci=904 another blog
jbjs.org/content/jbjsam/.../562.full.pdf
ispn.guide/.../Evaluation%20of%20Metabolic%20Bone%20Disease%20i...
ctgt.net/disorder/larsen-syndrome-autosomal-recessive
www.sciencedirect.com/science/article/.../0952818096000219
primarychildrenshospitalblog.org/.../primary-childrens-helps-bridger-with-... another blog
onlinelibrary.wiley.com/doi/10.1002/pd.../pdf
https://myhealth.alberta.ca/health/Pages/conditions.aspx?hwid...
informahealthcare.com/doi/pdf/10.3109/17453677809005739
diseaseinfosearch.org/Larsen+syndrome/4093
www.researchgate.net/...Larsen_syndrome.../00b49528ca97925b630000...
genetics4medics.com/larsen-syndrome.html
www.karger.com/Article/PDF/10050
www.ischoolguide.com/.../vocational-rehabilitation-teachers-story-larsen... another blog
https://www.pharmgkb.org/disease/PA162373094
voxxi.com/2012/09/29/larsen-syndrome-rare-condition/
dreamoneworld.org/projects/larsen-syndrome/
www.scopemed.org/?mno=24339
www.ibis-birthdefects.org/start/larsen.htm
jscr.oxfordjournals.org/content/2012/11/rjs007
jonesgen564s14.weebly.com/
www.themissingniche.com/2014/01/larsen-syndrome-wheelchair.html/
www.cgcgenetics.com/.../larsen-syndrome-sequence-analysis-of-flnb-gen...
P.s.
I am sorry if there are words that you do not understand. Do not feel bad. I have this disease and I don't know half of these words; heck, some of them I can not even pronounce. So therefore, when I am telling my story I will be putting it in plain english. I promise.
P.s.s.
Part two is coming in a couple of days. So until then have a wonderful and blessed time.
I will begin by telling you what LRS (Larsen Syndrome) actually is. First thing; it is a very rare genetic-congenital disorder that was discovered by Dr. Larsen in 1950 when he observed the dislocation of the large or major joints and the face defects / anomalies in 6 of his patients. LS is a mutation in the FLNB gene. Larsen Syndrome affects the development of the bones throughout the body. And now as they are finding out, other systems of the body as well. The signs and symptoms of LRS vary widely even within the same family. (As you will see later within my own family when we list our symptoms for you.
Here is a list of symptoms for you:
1. inward and / or upward turning feet
also known as being club-footed
2. dislocations of the hips
3. anterior dislocation of the knees
4. dislocation of the elbows
5. small extra bones in the wrists
6. small extra bones in the ankles
(5 and 6 are visible in x-rays)
7. tips of their fingers, especially their thumbs,
are typically blunt and have a square shape to them which is called Spatulate
8. unusually large range of joint movement called Hypermobility
9. short stature
10. abnormal curvature to their spine called Kyphosis or Scoliosis.
This may compress the spinal cord and lead to weakness of the limbs,
or cause them to become Paraplegic or Quadriplegic.
11. prominent forehead called a Frontal Bossing.
12. flattening of the bridge in their nose
13. flattening of the middle of their face,
912 and 13 are called Midface Hypoplasia)
14. wide set eyes called Ocular Hypertelorism.
15. opening in the roof of their mouth that is called a Cleft Palate.
16. have hearing loss that is caused by the malformations in tiny bones that are in the middle ear called Ossicles.
17. respiratory problems caused by the airways being weak and can lead to
partial closing or causing short pauses in breathing called Apnea or
commonly referred to as Sleep Apnea.
18. frequent respiratory infections
19. frequent ear infections.
20. connective tissue disorder
21. dislocation of the shoulders
22. elongation of the aorta
23. bicuspid aortic valve
24. subaortic stenosis
25. mitral valve prolapse with mitral regurgitation
26. atrial septal defect
27. patent ductus arteriosus
28. tricuspid valve prolapse
29. aortic dissection and aneurysm
30. aneurysm of ductus arteriosus
31. Cataracts
32. laryngomalacia
33. Malocclusion
34. Microdontia
35. hypodontia
36. Complete agenesis of anus
37. Bifid uterus
38. Bifid tongue
39. syndactyly
40. short metacarpals
41. hydrocephalus
42. abnormalities of spinal segmentation
43. short terminal phalanges
44. juxtacalcaneal accessory ossification center
45. abnormal vertebrae
46. atlantoaxial dislocation
47. narrowing of subdural space at the apex of the kyphosis
48. acid reflux
49. gastorial reflux
50. burr holes in the brain
51. stomach problems
52. intestinal problems
53. mental retardation
54. abnormal softening of cartilage of the windpipe (trachea) called tracheomalacia
55. atelosteogenesis
56. laryngotrachiomalacia
57. learning disabilities
58. developmental delay
59. short nails
60. multiple carpal ossification center
61. talipes equinovalgus
62. talipes varus
63. dysraphism
64. spina bifida
65. wedged vertebrae
66. lordosis
67. spondylosis
68. dysraphism of sacral spine
69. delayed ability to walk
70. webbed toes
71. webbed hands
72. drawn up hands
73. elasticity in the skin
74. elasticity of the muscles
75. elasticity of the nerves
76. elasticity of the tendons
77. elasticity of the ligaments
78. pulmonary hypoplasia
79. seizures
80. problems with anesthesia
81. heart murmur
82. COPD
83. aorta rupturing / tearing
84. arrhythmia
85. bronchial asthma
86. arthritis
87. carpal tunnel
88. tendonitis
Remember the above list is syptoms of LRS that doesn't mean that someone will have every single one of them and just because someone may have one or two of them, or even five to seven of them does not mean that have Larsen Syndrome. They are also finding new symptoms with new patients and older patients as they age.
This rare disorder is caused by a genetic defect in the gene encoding Filamin B, this is a cytoplasmic protein that is important to regulating the structure and activity of the Cytoskeleton. The gene that has influence on the emergence of LS is found in the chromosome region 3p21.1-14.1. This region contains the Human type VII collagen gene. LS has been also described as a Mesenchyme disorder that affects the connective tissue of an individual.
Both Autosomal Dominant and Recessive forms of LRS have been reported, in most cases it is found that the person has the Autosomal Dominant form. Reports of LRS have been found in the Western Societies. It is found in about 1 in every 100,000 births. But, more than likely this is a greatly underestimated because so many have still not been diagnosed or been misdiagnosed with another disorder. Cardiac defects are similar to those associated with the disease called Marfan's Syndrome, which is another disorder of the connective tissue. There is also a very lethal form of LS that has been reported. This form is described as being a combination of the Larsen Phenotype and of the Pulmonary Hypoplasia. People with LRS can survive into their adulthood and intelligence in unaffected most of the time.
Here is a list of links that you can look at that give a whole lot more information on Larsen Syndrome, and believe when I say that I just barely touched on the subject. I only list the first 6 pages on google. There are plenty more if you want to look them up. Each link has things in common about LS. But some stuff is different as well. It seems like none of the them give you the whole story about Larsen Syndrome. These links have medical journals, other blogs, and yes even a video from Youtube.
http://wordsiwheelby.com/2014/05/mothers-day-reflection/ a friend and fellow blogger with LS ghr.nlm.nih.gov/.../larsen-syn...
en.wikipedia.org/wiki/Larsen_syndrome
www.chop.edu/.../larsen-syndrome
www.omim.org/.../150250
www.webmd.com/children/larsen-syndrome
www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=503
rarediseases.org/.../larsen-syndr...
www.rightdiagnosis.com/l/larsen_syndrome/intro.htm
www.orthobullets.com/pediatrics/4090/larsens-syndrome
www.wow.com/Larsen+Syndrome+Pictures
medind.nic.in/icb/t05/i12/icbt05i12p1053.pdf
radiopaedia.org/articles/larsen-syndrome
jmg.bmj.com › Volume 43, Issue 5
https://summers3.wordpress.com/ this is another blog that I found
www.brighthub.com › Science › Genetics › Genetics of Disease
www.merriam-webster.com/.../larsen's%20syndrome
www.lifescript.com/Health
www.acpoc.org › ... › ACPOC News 2002 Vol 8, Num 1
wordsiwheelby.com/2013/10/mother-daughter-same-disability/ another blog
jdm.sagepub.com/content/28/5/240.abstract
www.youtube.com/watch?v=k9Ts8jXw5mI this is a video
www.oandp.com/articles/2013-12_07.asp
www.jpeds.com/article/S0022...8/abstract
link.springer.com/.../10.1007%2FBF00...
www.cafamily.org.uk/medical.../l/larsen-syndrome/
www.spine-deformity.org/article/S2212-134X(12)00009-3/abstract
web.memberclicks.com/mc/page.do?sitePageId=68902&orgId...
www.aapd.org/assets/1/25/Chien-17-01.pdf
www.scielo.br/scielo.php?script=sci_arttext&pid=S1807...
www.ineip.org/content/abstract/.../pp046-14-larsen-syndrome-seizure-ca...
https://makingcontact.org/index.php?ci=904 another blog
jbjs.org/content/jbjsam/.../562.full.pdf
ispn.guide/.../Evaluation%20of%20Metabolic%20Bone%20Disease%20i...
ctgt.net/disorder/larsen-syndrome-autosomal-recessive
www.sciencedirect.com/science/article/.../0952818096000219
primarychildrenshospitalblog.org/.../primary-childrens-helps-bridger-with-... another blog
onlinelibrary.wiley.com/doi/10.1002/pd.../pdf
https://myhealth.alberta.ca/health/Pages/conditions.aspx?hwid...
informahealthcare.com/doi/pdf/10.3109/17453677809005739
diseaseinfosearch.org/Larsen+syndrome/4093
www.researchgate.net/...Larsen_syndrome.../00b49528ca97925b630000...
genetics4medics.com/larsen-syndrome.html
www.karger.com/Article/PDF/10050
www.ischoolguide.com/.../vocational-rehabilitation-teachers-story-larsen... another blog
https://www.pharmgkb.org/disease/PA162373094
voxxi.com/2012/09/29/larsen-syndrome-rare-condition/
dreamoneworld.org/projects/larsen-syndrome/
www.scopemed.org/?mno=24339
www.ibis-birthdefects.org/start/larsen.htm
jscr.oxfordjournals.org/content/2012/11/rjs007
jonesgen564s14.weebly.com/
www.themissingniche.com/2014/01/larsen-syndrome-wheelchair.html/
www.cgcgenetics.com/.../larsen-syndrome-sequence-analysis-of-flnb-gen...
P.s.
I am sorry if there are words that you do not understand. Do not feel bad. I have this disease and I don't know half of these words; heck, some of them I can not even pronounce. So therefore, when I am telling my story I will be putting it in plain english. I promise.
P.s.s.
Part two is coming in a couple of days. So until then have a wonderful and blessed time.
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