Information on WSS
Name: Wiedemann-Steiner syndrome | Acronym: WSS
Alt. names:
Gene: KMT2A | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2012
Last updated on: 2023-02-28 by
Description
Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. Refs. PMIDs: 22795537; 25810209
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Small for gestational age |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased body weight |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Abnormality of body height |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 103505 |
M | 215149 |
4 | 0 | Brazil | Brasilian | PMID:31630891 [P12] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).