Information on HKLLS2
Basic details
Name: Hennekam lymphangiectasia-lymphedema syndrome 2 | Acronym: HKLLS2
Alt. names: Hennekam lymphangiectasia-lymphedema syndrome-2
Gene: FAT4 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
It is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Facial dysmorphism |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Epicanthus |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypertelorism |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Depressed nasal bridge |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 5 | Irregular dentition |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Microtia |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Intellectual disability, mild |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 8 | Intestinal lymphangiectasia |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 9 | Blepharophimosis |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 10 | Narrow mouth |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 11 | Camptodactyly |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 12 | Growth delay |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 13 | Hearing impairment |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 14 | Osteoporosis |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 15 | Syndactyly |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 16 | Abnormal trachea morphology |
0 (0.0%) | 0 (0.0%) | 13 (99.9%) |
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.