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Human Disease

Hennekam syndrome

Term ID
DOID:0060366
Synonyms
  • Hennekam lymphangiectasia-lymphedema syndrome
  • lymphedem-lymphangiectasia-intellectual disability 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. (5)
References
Ontology
Human Disease   ( DOID:0060366 )
Relationships
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Genes Involved
Zebrafish Models