lymphedema-distichiasis syndrome
Findings
No curated finding names lymphedema-distichiasis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
Definition from the Mondo Disease Ontology (MONDO:0007922), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DistichiasisHPO · MondoHP:0009743
- 42 of 42 reported patients
- Very frequent (80% to 99% of cases)
- ConjunctivitisHPOHP:0000509
- Very frequent (80% to 99% of cases)
- Corneal erosionHPOHP:0200020
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 10 of 49 reported patients
- Very frequent (80% to 99% of cases)
- Predominantly lower limb lymphedemaHPOHP:0003550
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
Show the remaining 24
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormality of the pulmonary vasculatureHPOHP:0004930
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- 5 of 39 reported patients
- Occasional (5% to 29% of cases)
- Cleft upper lipHPOHP:0000204
- Occasional (5% to 29% of cases)
- Diabetes mellitusHPOHP:0000819
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXC2HGNC:3801
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2023