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

• GARD:3318
• MESH:C537255
• MIM:235510
• MIM:616006
• ORDO:2136
• SNOMEDCT_US_2023_03_01:234146006
• UMLS_CUI:C0340834

Ontology

Human Disease   ( DOID:0060366 )