FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Hennekam syndrome ID (Ontology) DOID:0060366 (Human Disease)
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.
Also Known As "Hennekam lymphangiectasia-lymphedema syndrome" ; "lymphedem-lymphangiectasia-intellectual disability syndrome"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Hennekam syndrome       2      1
 for disease ribbon | Hennekam syndrome       2       --
 model of | Hennekam syndrome       2       --
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  immune system disease
   |__lymphatic system disease
       |__Hennekam syndrome  3 rec.
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Is a lymphatic system disease
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Synonyms
  • "Hennekam lymphangiectasia-lymphedema syndrome" EXACT
    "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT
Secondary IDs
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GARD:3318
MESH:C537255
MIM:235510
MIM:616006
ORDO:2136
SNOMEDCT_US_2023_03_01:234146006
UMLS_CUI:C0340834