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Coverage: 2010-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Hennekam Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.
Mascarenhas Selinda et al., American journal of medical genetics. Part A (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/41992670/
- 2.
Novel biallelic splicing and deletion variants of ADAMTS3 found in adult patients with Hennekam lymphangiectasia-lymphedema syndrome 3
Arisa Igarashi et al., BMJ connections. (1 July 2025)
https://doi.org/10.1136/bmjccgg-2024-000006
- 3.
Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.
Tessarin G et al., Journal of investigational allergology & clinical immunology (14 December 2023)
https://pubmed.ncbi.nlm.nih.gov/36748365/
- 4.
Newfound features associated with Hennekam Syndrome (
Safari Vejin Tannaz et al., Clinical case reports (1 November 2023)
https://pubmed.ncbi.nlm.nih.gov/38028107/
- 5.
HENNEKAM SYNDROME: LITERATURE REVIEW
Assylzhan M. Messova et al., Ġylym men densaulyķ saķtau. (30 June 2023)
https://doi.org/10.34689/sh.2023.25.3.027
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Hennekam Syndrome
Hennekam syndrome is a rare inherited condition in which the lymphatic vessels do not form properly. This leads to swelling of the limbs and face (lymphoedema), widened lymph vessels in the bowel that cause protein loss, and often distinctive facial features and learning difficulties. Care is supportive and may include compression therapy, a specialised diet, nutritional support and developmental services.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
There is not much recent research on Hennekam Syndrome, so this page includes research published since 2010. Most pages on RareWays start at 2020.
Most Recent Research
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is an autosomal recessive disorder, caused by biallelic variants in CCBE1, FAT4, and ADAMTS3 genes. We herein report a 15-month-old male with peripheral lymphedema, facial dysmorphism, camptodactyly and generalized hypotonia. Solo exome sequencing revealed a homozygous splice site variant, c.12479+3A>G in intron 14 of FAT4 (NM_001291303.3). Reverse transcriptase-PCR (RT-PCR) was performed using cDNA isolated from patient-derived fibroblasts, which revealed aberrant splicing. This study provides a report of an additional family with a novel biallelic splice site variant in FAT4 which disrupts the normal splicing of the FAT4 mRNA, leading to aberrant splicing causing a milder form of HKLLS2.
Common Questions
What is Hennekam Syndrome?
Hennekam syndrome is a rare inherited condition in which the lymphatic vessels do not form properly. This leads to swelling of the limbs and face (lymphoedema), widened lymph vessels in the bowel that cause protein loss, and often distinctive facial features and learning difficulties. Care is supportive and may include compression therapy, a specialised diet, nutritional support and developmental services.
How many clinical trials are available for Hennekam Syndrome?
No clinical trials are currently indexed for Hennekam Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Hennekam Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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