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Prevalence (%) of clinical parameters based on data from 2 references describing 28 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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