Hennekam lymphangiectasia-lymphedema syndrome 2
Findings
No curated finding names Hennekam lymphangiectasia-lymphedema syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014454), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal facial shapeHPOHP:0001999
- 9 of 9 reported patients
- EpicanthusHPOHP:0000286
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Irregular dentitionHPOHP:0040079
- 8 of 8 reported patients
- MicrotiaHPOHP:0008551
- 8 of 8 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 8 of 9 reported patients
- Intestinal lymphangiectasiaHPOHP:0002593
Show the remaining 8
- SyndactylyHPOHP:0001159
- 2 of 8 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 9 reported patients
- OsteoporosisHPOHP:0000939
- 2 of 9 reported patients
- Abnormal tracheal morphologyHPOHP:0002778
- 0 of 13 reported patients
- Flat faceHPOHP:0012368
- LymphedemaHPOHP:0001004
- Pericardial lymphangiectasiaHPOHP:0005183
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.
- FAT4HGNC:23109
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: Hennekam lymphangiectasia-lymphedema syndrome 2
- Also called
- FAT4 Hennekam syndromeHennekam lymphangiectasia-lymphedema syndrome type 2Hennekam syndrome caused by mutation in FAT4