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Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.
Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.


'''Birth - 2 years:'''
{| class="wikitable" border="2"
|-style="background:silver; color:black" align="center"
| '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features'''
|-style="background:white; color:black"
| Birth - 2 years || • [[ALMS1]] [[mutation]] in 1 [[allele]] and/or family history of Alström Syndrome
 
• Vision pathology ([[nystagmus]], [[photophobia]])
|| • [[Obesity]]
 
• [[Dilated cardiomyopathy]] with [[congestive heart failure]]
 
|| Minimum diagnosis requires 2 major criteria
OR
 
1 major and 2 minor criteria
|| Recurrent pulmonary infections, normal digits, delayed developmental milestones
|-style="background:white; color:black"
| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome
 
• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by [[electroretinography]] (ERG)
 
|| • Obesity and/or [[insulin resistance]] and/or Type 2 Diabetes
 
• History of [[dilated cardiomyopathy]] with [[congestive heart failure]]
 
• [[Hearing loss ]]
 
• [[Liver failure|Hepatic dysfunction]]
 
• [[Renal failure]]
 
• Advanced bone age


Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
|| Minimum diagnosis requires 2 major criteria  


Major criteria are:
OR
1) [[ALMS1]] [[mutatio]]n in 1 [[allele]] and/or family history of Alström Syndrome
2) Vision pathology ([[nystagmus]], [[photophobia]])


Minor criteria are:
1 major and 3 minor criteria  
1) [[Obesity]]
2) [[Dilated cardiomyopathy]] with [[congestive heart failure]]


Other variable supportive evidence:
|| Recurrent pulmonary infections, normal digits, delayed developmental milestones, [[hyperlipidemia]], [[scoliosis]], flat wide feet, [[hypothyroidism]], [[hypertension]], recurrent [[urinary tract infection]], [[growth hormone deficiency]]
Recurrent pulmonary infections, normal digits, delayed developmental milestones.
|-style="background:white; color:black"
| 15 years - adulthood || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome


'''At 3-14 years of age:'''
• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG)


2 major criteria or 1 major and 3 minor criteria.
|| • Obesity and/or insulin resistance and/or Type 2 Diabetes


Major criteria are:
• History of dilated cardiomyopathy with congestive heart failure
1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome,
2) Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG).


Minor Criteria:
• Hearing loss  
1) Obesity and/or insulin resistance and/or Type 2 Diabetes
2) History of dilated cardiomyopathy with congestive heart failure
3) Hearing loss
4) Hepatic dysfunction
5) Renal failure
6) Advanced bone age


Variable supportive evidence:
• Hepatic dysfunction
Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency.


'''Presentation 15 years - adulthood:'''
• Renal failure


2 major and 2 minor criteria or 1 major and 4 minor criteria.
• [[Short stature]]


Major criteria are:
• Males: [[hypogonadism]], Females: irregular menses and/or hyperandrogenism
1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome.
2) Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).


Minor criteria:
|| Minimum diagnosis requires 2 major and 2 minor criteria
1) Obesity and/or insulin resistance and/or Type 2 Diabetes
2) History of dilated cardiomyopathy with congestive heart failure.
3) Hearing loss
4) Hepatic dysfunction
5) Renal failure
6) Short stature
7) Males: hypogonadism, Females: irregular menses and/or hyperandrogenism


Other supportive features:
OR
Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia.


1 major and 4 minor criteria


{|
|| Recurrent pulmonary infections, normal digits, history of developmental delay, [[hyperlipidemia]], scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, [[alopecia]]
|-style="background:silver; color:black" align="center"
| '''Age Range''' || '''Major Criteria''' || '''Minor Criteria''' || '''Criteria Required''' || '''Other Supportive Features'''
|-style="background:white; color:black"
| Birth - 2 years || • [[ALMS1]] [[mutatio]]n in 1 [[allele]] and/or family history of Alström Syndrome, • Vision pathology ([[nystagmus]], [[photophobia]]) || •[[Obesity]], • [[Dilated cardiomyopathy]] with [[congestive heart failure]] || Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria || Recurrent pulmonary infections, normal digits, delayed developmental milestones
|-style="background:white; color:black"
| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome, • Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG) ||  • Obesity and/or insulin resistance and/or Type 2 Diabetes, • History of dilated cardiomyopathy with congestive heart failure, • Hearing loss, • Hepatic dysfunction, • Renal failure, • Advanced bone age || Minimum diagnosis requires 2 major criteria or 1 major and 3 minor criteria || Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency
|}
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[CME Category::Cardiology]]


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[[Category:Genetic Disease]]
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[[Category:Cardiology]]
[[Category:Cardiology]]
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[[Category:Disease]]
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Latest revision as of 19:56, 14 March 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Diagnostic Criteria

Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.

Age Range Major Criteria Minor Criteria Criteria Required Other Supportive Features
Birth - 2 years • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (nystagmus, photophobia)

• Obesity

• Dilated cardiomyopathy with congestive heart failure

Minimum diagnosis requires 2 major criteria

OR

1 major and 2 minor criteria

Recurrent pulmonary infections, normal digits, delayed developmental milestones
3-14 years • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG)

• Obesity and/or insulin resistance and/or Type 2 Diabetes

• History of dilated cardiomyopathy with congestive heart failure

• Hearing loss

• Hepatic dysfunction

• Renal failure

• Advanced bone age

Minimum diagnosis requires 2 major criteria

OR

1 major and 3 minor criteria

Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency
15 years - adulthood • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG)

• Obesity and/or insulin resistance and/or Type 2 Diabetes

• History of dilated cardiomyopathy with congestive heart failure

• Hearing loss

• Hepatic dysfunction

• Renal failure

• Short stature

• Males: hypogonadism, Females: irregular menses and/or hyperandrogenism

Minimum diagnosis requires 2 major and 2 minor criteria

OR

1 major and 4 minor criteria

Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia

References


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