Hennekam Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases
Aliases & Descriptions for Hennekam Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases, Blood diseases, Immune diseases
ICD10: 28 27
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
NIH Rare Diseases:45 Hennekam syndrome is a rare condition that affects the lymphatic system. signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). hennekam syndrome is caused by changes (mutations) in the ccbe1 or fat4 genes and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 2/17/2016
MalaCards based summary: Hennekam Syndrome, also known as hennekam lymphangiectasia-lymphedema syndrome, is related to hennekam lymphangiectasia-lymphedema syndrome 2 and ausems wittebol-post hennekam syndrome, and has symptoms including malar flattening, hypertelorism and low-set, posteriorly rotated ears. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are liver/biliary system and digestive/alimentary.
Disease Ontology:10 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in 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.
Genetics Home Reference:23 Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
Wikipedia:68 Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal... more...
Symptoms:51 (show all 52)
HPO human phenotypes related to Hennekam Syndrome:(show all 46)
MalaCards organs/tissues related to Hennekam Syndrome:33
Skin, Eye, Kidney, Tongue, Lung, Brain, B cells
Articles related to Hennekam Syndrome:(show all 19)
Search GEO for disease gene expression data for Hennekam Syndrome.
Pathways related to Hennekam Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Hennekam Syndrome according to GeneCards Suite gene sharing:(show all 8)
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet