Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay syndrome |
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Prevalence (%) of clinical parameters based on data from 2 references describing 38 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 |
| Delayed bone age | skeletal | 100 % | 25045128 | 2022-11-17 | |
| Delayed dental development | skeletal | 100 % | 26497935 | 2022-11-17 | |
| Deep-set eyes | skeletal | 100 % | 26497935 | 2022-11-17 | |
| Triangular face | multi | 100 % | 26497935 | 2022-11-17 | |
| Ovarian cysts | reproductive | 100 % | 26497935 | 2022-11-17 | |
| Hypoplastic alae nasi | integumentary | 97 % | 26497935 | 2022-11-17 | |
| Bossed forehead | skeletal | 97 % | 26497935 | 2022-11-17 | |
| Thin lips | integumentary | 94 % | 26497935 | 2022-11-17 | |
| Decreased subcutaneous fat | integumentary | 90 % | 26497935 | 2022-11-17 | |
| Low set ears | skeletal | 90 % | 26497935 | 2022-11-17 | |
| Micrognathia | skeletal | 88 % | 26497935 | 2022-11-17 | |
| Intrauterine growth retardation | multi | 85 % | 26497935 | 2022-11-17 | |
| Midfacial hypoplasia | skeletal | 83 % | 26497935 | 2022-11-17 | |
| Short stature | skeletal | 81 % | 26497935 | 2022-11-17 | |
| Insulin resistance | endocrine | 76 % | 26497935 | 2022-11-17 | |
| Weight loss | multi | 76 % | 26497935 | 2022-11-17 | |
| Prominent veins | circulatory | 73 % | 26497935 | 2022-11-17 | |
| Skin wrinkles | integumentary | 73 % | 26497935 | 2022-11-17 | |
| Speech delay | nervous | 52 % | 26497935 | 2022-11-17 | |
| Visual impairment | nervous | 50 % | 26497935 | 2022-11-17 | |
| Rieger abnomalities | nervous | 43 % | 26497935 | 2022-11-17 | |
| Hernia | integumentary | 34 % | 26497935 | 2022-11-17 | |
| Hypermobile joints | skeletal | 34 % | 26497935 | 2022-11-17 |
List of references:
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, , Nursel H Elcioglu, M Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A Gibbs, James R Lupski,
American journal of medical genetics. Part A - Sep 2014
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
M Avila, D A Dyment, J V Sagen, J St-Onge, U Moog, B H Y Chung, S Mo, S Mansour, A Albanese, S Garcia, D O Martin, A A Lopez, T Claudi, R König, S M White, S L Sawyer, J A Bernstein, L Slattery, R K Jobling, G Yoon, C J Curry, M L Merrer, B L Luyer, D Héron, M Mathieu-Dramard, P Bitoun, S Odent, J Amiel, P Kuentz, J Thevenon, M Laville, Y Reznik, C Fagour, M-L Nunes, D Delesalle, S Manouvrier, O Lascols, F Huet, C Binquet, L Faivre, J-B Rivière, C Vigouroux, P R Njølstad, A M Innes, C Thauvin-Robinet,
Clinical genetics - Apr 2016