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Metadata
DOID 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

GARD:3318

MESH:C537255

OMIM:235510

OMIM:616006

ORDO:2136

UMLS_CUI:C0340834

Subsets

DO_rare_slim

Synonyms

Hennekam lymphangiectasia-lymphedema syndrome [EXACT]

lymphedem-lymphangiectasia-intellectual disability syndrome [EXACT]

Relationships

is_a lymphatic system disease

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