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Prevalence (%) of clinical parameters based on data from 1 references describing 49 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 |
| Phocomelia | skeletal | 100 % | 19574259 | 2022-01-08 | |
| Radial hypoplasia | skeletal | 100 % | 19574259 | 2022-01-08 | |
| Ulnar hypoplasia | skeletal | 98 % | 19574259 | 2022-01-08 | |
| Thumb hypoplasia | skeletal | 98 % | 19574259 | 2022-01-08 | |
| Microcephaly | skeletal | 95 % | 19574259 | 2022-01-08 | |
| Nasal hypoplasia | skeletal | 92 % | 19574259 | 2022-01-08 | |
| Malar hypoplasia | skeletal | 88 % | 19574259 | 2022-01-08 | |
| Hypertelorism | skeletal | 86 % | 19574259 | 2022-01-08 | |
| Humeral defects | skeletal | 78 % | 19574259 | 2022-01-08 | |
| Humeral hypoplasia | skeletal | 78 % | 19574259 | 2022-01-08 | |
| Micrognathia | skeletal | 74 % | 19574259 | 2022-01-08 | |
| Clinodactyly | skeletal | 74 % | 19574259 | 2022-01-08 | |
| Fibular hypoplasia | skeletal | 74 % | 19574259 | 2022-01-08 | |
| Brachydactyly | skeletal | 70 % | 19574259 | 2022-01-08 | |
| Tibial hypoplasia | skeletal | 69 % | 19574259 | 2022-01-08 | |
| Haemangioma | skeletal | 68 % | 19574259 | 2022-01-08 | |
| Ear malformation | integumentary | 66 % | 19574259 | 2022-01-08 | |
| Club foot | skeletal | 64 % | 19574259 | 2022-01-08 | |
| Brachycephaly | skeletal | 63 % | 19574259 | 2022-01-08 | |
| Proptosis | nervous | 60 % | 19574259 | 2022-01-08 | |
| Developmental delay | multi | 59 % | 19574259 | 2022-01-08 | |
| Femoral hypoplasia | skeletal | 58 % | 19574259 | 2022-01-08 | |
| Downward sloping palpebral apertures | skeletal | 55 % | 19574259 | 2022-01-08 | |
| Cleft lip or palate | skeletal | 55 % | 19574259 | 2022-01-08 | |
| Synostosis | skeletal | 48 % | 19574259 | 2022-01-08 | |
| Corneal opacities | nervous | 36 % | 19574259 | 2022-01-08 | |
| Enlarged genitalia | reproductive | 35 % | 19574259 | 2022-01-08 | |
| Cryptorchidism | reproductive | 22 % | 19574259 | 2022-01-08 | |
| Bluish sclerae | skeletal | 22 % | 19574259 | 2022-01-08 | |
| Cafe-au-lait spots | integumentary | 10 % | 19574259 | 2022-01-08 | |
| Microphthalmia | nervous | 8 % | 19574259 | 2022-01-08 |
List of references:
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
H Vega, A H Trainer, M Gordillo, M Crosier, H Kayserili, F Skovby, M L Giovannucci Uzielli, R E Schnur, S Manouvrier, E Blair, J A Hurst, F Forzano, M Meins, K O J Simola, A Raas-Rothschild, R C M Hennekam, E Wang Jabs,
Journal of medical genetics - Jan 2010