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Prevalence (%) of clinical parameters based on data from 1 references describing 11 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 |
| Hypertelorism | skeletal | 100 % | 20082460 | 2015-06-05 | |
| Short nose | skeletal | 100 % | 20082460 | 2015-06-05 | |
| Brachydactyly | skeletal | 100 % | 20082460 | 2015-06-05 | |
| Short stature | skeletal | 100 % | 20082460 | 2015-06-05 | |
| Shawl scrotum | reproductive | 91 % | 20082460 | 2015-06-05 | |
| Long philtrum | skeletal | 82 % | 20082460 | 2015-06-05 | |
| Widow's peak | integumentary | 73 % | 20082460 | 2015-06-05 | |
| Broad feet | skeletal | 73 % | 20082460 | 2015-06-05 | |
| Delayed bone age | skeletal | 57 % | 20082460 | 2015-06-05 | |
| Crease below lower lip | integumentary | 55 % | 20082460 | 2015-06-05 | |
| Cryptorchidism | reproductive | 55 % | 20082460 | 2015-06-05 | |
| Camptodactyly | skeletal | 45 % | 20082460 | 2015-06-05 | |
| Developmental delay | nervous | 45 % | 20082460 | 2015-06-05 | |
| Interdigital webbing | integumentary | 36 % | 20082460 | 2015-06-05 | |
| Ptosis | nervous | 36 % | 20082460 | 2015-06-05 | |
| Downward sloping palpebral apertures | skeletal | 36 % | 20082460 | 2015-06-05 | |
| Obesity | multi | 36 % | 20082460 | 2015-06-05 | |
| Single palmar creases | integumentary | 36 % | 20082460 | 2015-06-05 | |
| Bossed forehead | skeletal | 36 % | 20082460 | 2015-06-05 | |
| Hypermobile joints | skeletal | 18 % | 20082460 | 2015-06-05 | |
| Hernia | digestive | 18 % | 20082460 | 2015-06-05 | |
| Prominent umbilicus | integumentary | 9 % | 20082460 | 2015-06-05 | |
| Dental malocclusion | digestive | 9 % | 20082460 | 2015-06-05 | |
| Hypospadia | reproductive | 9 % | 20082460 | 2015-06-05 |
List of references:
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
A Orrico, L Galli, L Faivre, J Clayton-Smith, S M Azzarello-Burri, J M Hertz, S Jacquemont, R Taurisano, I Arroyo Carrera, E Tarantino, K Devriendt, D Melis, T Thelle, U Meinhardt, V Sorrentino,
American journal of medical genetics. Part A - Feb 2010