Information on TKS
Basic details
Name: Takenouchi-Kosaki syndrome | Acronym: TKS
Alt. names:
Gene: CDC42 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
It is a complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).[OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Camptodactyly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Dental malocclusion |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Eversion of lateral third of lower eyelids |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Exotropia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Global developmental delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Highly arched eyebrow |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Increased mean platelet volume |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Lymphoedema |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Midface retrusion |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Progressive microcephaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Ptosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Sensorineural hearing impairment |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Short philtrum |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Thin upper lip vermilion |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Ventriculomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Ataxia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Cerebellar atrophy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Patent ductus arteriosus |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.