This report describes Hennekam lymphangiectasia-lymphedema syndrome 2, which shows autosomal recessive inheritance. The human gene implicated in this disease, FAT4, is also implicated in a similar neurodevelopmental disorder, Van Maldergem syndrome 2 (FBhh0001081, MIM:612411, DOID:0060238). See the report for 'neurodevelopmental disorders, FAT4-related' (FBhh0001080) for information on experimental results using Drosophila models of this and related diseases.
[updated July 2019 by FlyBase; FBrf0222196]
[HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2](https://omim.org/entry/616006)
[FAT ATYPICAL CADHERIN 4; FAT4](https://omim.org/entry/612411)
Defects in lymphatic structures resulting in congenital lymphedema and lymphangiectasia (dilation of lymph vessels) are the main features of the Hennekam lymphangiectasia-lymphedema syndrome (HS). Other characteristics include unusual facial morphology, variable intellectual disabilities and, at a low frequency, malformations (Alders et al. 2014, pubmed:24913602).
Hennekam lymphangiectasia-lymphedema syndrome 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, pubmed:24913602). [from MIM:616006, 2019.7.16]
The FAT4 gene encodes a protein that is a member of a large family of protocadherins. DCHS1 (MIM:603057) is another protocadherin that is the ligand for FAT4; FAT4 and DCHS1 form an apically located adhesive complex in the developing brain (summary by Cappello et al. 2013, pubmed:24056717). [from MIM:612411, 2019.7.16]
