Lymphedema-distichiasis Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Lymphedema-distichiasis Syndrome

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis
  • Edema
  • Abnormality of cardiovascular system morphology
  • Obesity
  • Patent ductus arteriosus
  • Arrhythmia

And another 33 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Lymphedema-distichiasis Syndrome Is also known as lymphedema with distichiasis.

Researches and researchers

Doctors, researchs, and experts related to Lymphedema-distichiasis Syndrome extracted from public data.

Lymphedema-distichiasis Syndrome Experts map



Current Researchs and researchers

  • LAUSANNE — Pr Tatiana PETROVA

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — D√©partement d'oncologie UNIL-CHUV, Centre Hospitalier Universitaire Vaudois CHUV
    • Research area/topic::

      TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema - CH



Mendelian

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Lymphedema-distichiasis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
FOXC2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FOXC2
Specificity
100 %
Genes
100 %
Lymphedema-distichiasis syndrome (sequence analysis of FOXC2 gene).

By CGC Genetics (Portugal).

FOXC2
Specificity
100 %
Genes
100 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics (Portugal).

FOXC2, FOXF1, MYCN
Specificity
34 %
Genes
100 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics (Portugal).

FOXC2, FOXF1, MYCN
Specificity
34 %
Genes
100 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, FLT4, FOXC2, GATA2, GJA1, KIF11, PTPN14
Specificity
9 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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