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Table 1 Age of onset of the main signs and symptoms in different mucopolysaccharidosis (MPS) types

From: Mucopolysaccharidoses: early diagnostic signs in infants and children

Sign/ symptom

Age of onset 0-24 months

Age of onset >2 yrs

MPS

Hydrops foetalis [10, 19]

Birth

 

I, IVA, VII

Diarrhea [6, 13]

First months

 

I, II, III

Hernias [11, 12]

Birth or first months

 

Almost all MPS

Upper respiratory hypersecretion/Infections [6, 13]

First months –1 Year

 

I, II, III, VI

Heart valve [8, 13, 18, 21]

< 1 year

 

I

 

< 5 yrs

II, VI, VII

Coarse face [11, 15]

9-18 m

 

I,II, VI

 

2-4 yrs

II, III

Corneal clouding [11]

< 15 m

 

I, VI

Liver/spleen enlargement [6, 13]

< 1 year

 

I,II,III, VI

Cognitive delay [2, 12]

< 18 months

 

I

 

2-3 years

II,III

Macrocrania [1, 6, 21]

Birth – 1 year

 

I, II, III, IV, VI, VII

Skeletal dysplasia [2, 15]

< 1 year

 

II, IV

 

2- 4 yrs

I, VI

Growth impairment [13]

12 – 18 m

 

I

 

<3 yrs

IV, VI

Behavioural anomalies [1, 6]

< 2 yrs

 

I

 

2-4 years

II, III

Sleep disturbances [6, 13]

First year

 

I,II,III, VI