| Metadata | |
|---|---|
| ID | DOID:0060366 |
| Name | Hennekam syndrome |
| Definition | A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. http://ghr.nlm.nih.gov/condition/hennekam-syndrome, https://en.wikipedia.org/wiki/Hennekam_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/14564208, https://www.ncbi.nlm.nih.gov/pubmed/24870712, https://www.ncbi.nlm.nih.gov/pubmed/2624276 |
| Xrefs |
SNOMEDCT_US_2023_03_01:234146006 |
| Subsets |
DO_rare_slim |
| Synonyms |
Hennekam lymphangiectasia-lymphedema syndrome [EXACT] lymphedem-lymphangiectasia-intellectual disability syndrome [EXACT] |
| Parent Relationships |