Hennekam syndrome
Encyclopedia
Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal lymphagiectasia–lymphedema–mental retardation syndrome is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema
, and mild to moderate levels of growth and mental retardation
.
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".
It may be associated with CCBE1
.
Lymphedema
Lymphedema , also known as lymphatic obstruction, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system....
, and mild to moderate levels of growth and mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
.
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".
It may be associated with CCBE1
CCBE1
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.- Function :This gene is thought to function in extracellular matrix remodeling and migration...
.