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Hennekam syndrome
Summary
- Synonym
-
- 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.
- Super Class
- lymphatic system disease
External Links
- Disease Ontology
- DOID:0060366
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15072 | A disintegrin and metalloproteinase with thrombospondin motifs 3 | |
| Q6UXH8 | Collagen and calcium-binding EGF domain-containing protein 1 | |
| Q6V0I7 | Protocadherin Fat 4 |
