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Prevalence (%) of clinical parameters based on data from 2 references describing 28 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Short stature |
multi |
100 % |
3728563 |
2022-11-17 |
|
Pseudoepiphyses |
skeletal |
100 % |
3728563 |
2022-11-17 |
|
Short stature |
skeletal |
100 % |
11694546 |
2022-11-17 |
|
Brachydactyly |
skeletal |
100 % |
11694546 |
2022-11-17 |
|
Long philtrum |
integumentary |
73 % |
11694546 |
2022-11-17 |
|
Contracture |
skeletal |
65 % |
11694546 |
2022-11-17 |
|
Anteverted nares |
integumentary |
64 % |
11694546 |
2022-11-17 |
|
Long eyelashes |
integumentary |
64 % |
11694546 |
2022-11-17 |
|
Prominent eyebrows |
integumentary |
64 % |
11694546 |
2022-11-17 |
|
Full lips |
integumentary |
59 % |
11694546 |
2022-11-17 |
|
Small mouth |
integumentary |
55 % |
11694546 |
2022-11-17 |
|
Respiratory distress |
respiratory |
50 % |
11694546 |
2022-11-17 |
|
Visual impairment |
nervous |
40 % |
11694546 |
2022-11-17 |
|
Eye abnormalities |
nervous |
40 % |
11694546 |
2022-11-17 |
|
Dysphonia |
nervous |
33 % |
11694546 |
2022-11-17 |
|
Ear malformation |
integumentary |
30 % |
11694546 |
2022-11-17 |
|
Carpal tunnel syndrome |
nervous |
14 % |
11694546 |
2022-11-17 |
|
List of references:
Acromicric dysplasia. P Maroteaux, R Stanescu, V Stanescu, R Rappaport,
American journal of medical genetics - Jul 1986
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. L Faivre, M Le Merrer, C Baumann, M Polak, P Chatelain, V Sulmont, J Cousin, M Bost, M P Cordier, E Zackai, K Russell, G Finidori, J C Pouliquen, A Munnich, P Maroteaux, V Cormier-Daire,
Journal of medical genetics - Nov 2001
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