Hennekam Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Hennekam Syndrome

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10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 11diseasecard, 22GeneTests, 24GTR, 65UMLS, 27ICD10, 36MeSH, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Hennekam Syndrome:

Name: Hennekam Syndrome 10 45 23 12 51
Hennekam Lymphangiectasia-Lymphedema Syndrome 10 11 22 23
Hennekam Lymphangiectasia Lymphedema Syndrome 45 24 65
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome 23 51
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome 45
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome 23
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome 10
Lymphangiectasies and Lymphedema Hennekam Type 45
Generalized Lymphatic Dysplasia 23


Orphanet epidemiological data:

hennekam syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:0060366
ICD1027 Q87.8
MeSH36 C537255
Orphanet51 2136
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0340834

Summaries for Hennekam Syndrome

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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...

Related Diseases for Hennekam Syndrome

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Diseases related to Hennekam Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 212.7
2ausems wittebol-post hennekam syndrome11.9
3cleft lip-retinopathy syndrome11.0
4hennekam lymphangiectasia-lymphedema syndrome 110.9
5uv-sensitive syndrome10.4CCBE1, FAT4
6tufted hair folliculitis10.3FLT4, PROX1
7hemangioma thrombocytopenia syndrome10.3FLT4, PROX1
8compensatory emphysema10.3FLT4, PROX1
10intestinal lymphangiectasia10.2
11seminal vesicle acute gonorrhea10.2FLT4, PROX1
12congenital megalo-ureter10.2FLT4, VEGFC
13congenital methemoglobinemia10.1ALB, EGF
14hematologic cancer9.9FLT4, PROX1
16van maldergem syndrome9.9
18congenital pulmonary lymphangiectasia9.9
19hydrops fetalis9.9
20hemopericardium9.8ALB, SERPINA1
21peritoneal serous papillary adenocarcinoma9.8ALB, SERPINA1
22allergic urticaria9.8ALB, SERPINA1
23diphtheria9.8EGF, SERPINA1
24vulvar melanoma9.8ALB, SERPINA1
25adult endodermal sinus tumor9.8ALB, SERPINA1
26autosomal recessive type iv ehlers-danlos syndrome9.7FLT4, PROX1, VEGFC
27myoma9.7FLT4, PROX1, VEGFC
28pyomyositis9.7ALB, SERPINA1
29frontotemporal dementia and/or amyotrophic lateral sclerosis 49.7EGF, VEGFC
30diffuse scleroderma9.6ALB, SERPINA1
31optic nerve disease9.6ALB, SERPINA1
3215q13.3 microduplication syndrome9.6ALB, CCBE1, FAT4, FLT4
33uterine corpus epithelioid leiomyosarcoma9.5ALB, SERPINA1
34esophageal cancer9.4ALB, EGF, VEGFC
35rectum signet ring adenocarcinoma9.3ALB, SERPINA1
36lymphoblastic lymphoma9.1CCBE1, FAT4, FLT4, PROX1, VEGFC
37orofaciodigital syndrome iii7.3ALB, CCBE1, EGF, FAT4, FLT4, PROX1

Graphical network of the top 20 diseases related to Hennekam Syndrome:

Diseases related to hennekam syndrome

Symptoms for Hennekam Syndrome

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 51 (show all 52)
  • facial dysmorphism
  • flat face
  • hypertelorism
  • broad nose/nasal bridge
  • depressed nasal bridge
  • tooth shape anomaly
  • supernumerary teeth/polyodontia
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • malabsorption/chronic diarrhea/steatorrhea
  • lymphangioma/lymphatic malformations
  • lymphedema
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • lymphopenia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • broad forehead
  • epicanthic folds
  • anomalies of tongue, gingiva and oral mucosa
  • thickened/hypertrophic/fibromatous gingivae
  • narrow rib cage/thorax
  • erysipela
  • ascitis
  • splenomegaly
  • repeat respiratory infections
  • lymphadenopathy/polyadenopathies
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • craniostenosis/craniosynostosis/sutural synostosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • microstomia/little mouth
  • short philtrum
  • conductive deafness/hearing loss
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • foot anomalies
  • gastric/pyloric stenosis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • ectopic/horseshoe/fused kidneys
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • hypocalcemia
  • benign tumor of the brain/nervous system
  • early death/lethality
  • hydrops fetalis

HPO human phenotypes related to Hennekam Syndrome:

(show all 46)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 delayed eruption of teeth hallmark (90%) HP:0000684
5 lymphedema hallmark (90%) HP:0001004
6 lymphopenia hallmark (90%) HP:0001888
7 abnormal facial shape hallmark (90%) HP:0001999
8 malabsorption hallmark (90%) HP:0002024
9 decreased antibody level in blood hallmark (90%) HP:0004313
10 depressed nasal bridge hallmark (90%) HP:0005280
11 abnormality of dental morphology hallmark (90%) HP:0006482
12 external ear malformation hallmark (90%) HP:0008572
13 reduced number of teeth hallmark (90%) HP:0009804
14 increased number of teeth hallmark (90%) HP:0011069
15 cognitive impairment hallmark (90%) HP:0100543
16 lymphangioma hallmark (90%) HP:0100764
17 abnormality of the genital system typical (50%) HP:0000078
18 gingival overgrowth typical (50%) HP:0000212
19 epicanthus typical (50%) HP:0000286
20 broad forehead typical (50%) HP:0000337
21 narrow chest typical (50%) HP:0000774
22 erysipelas typical (50%) HP:0001055
23 seizures typical (50%) HP:0001250
24 ascites typical (50%) HP:0001541
25 splenomegaly typical (50%) HP:0001744
26 recurrent respiratory infections typical (50%) HP:0002205
27 lymphadenopathy typical (50%) HP:0002716
28 narrow mouth occasional (7.5%) HP:0000160
29 short philtrum occasional (7.5%) HP:0000322
30 micrognathia occasional (7.5%) HP:0000347
31 conductive hearing impairment occasional (7.5%) HP:0000405
32 glaucoma occasional (7.5%) HP:0000501
33 craniosynostosis occasional (7.5%) HP:0001363
34 abnormality of the pericardium occasional (7.5%) HP:0001697
35 abnormality of the foot occasional (7.5%) HP:0001760
36 hydrops fetalis occasional (7.5%) HP:0001789
37 pyloric stenosis occasional (7.5%) HP:0002021
38 respiratory insufficiency occasional (7.5%) HP:0002093
39 abnormality of the pleura occasional (7.5%) HP:0002103
40 abnormality of neuronal migration occasional (7.5%) HP:0002269
41 hypocalcemia occasional (7.5%) HP:0002901
42 finger syndactyly occasional (7.5%) HP:0006101
43 arteriovenous malformation occasional (7.5%) HP:0100026
44 camptodactyly of finger occasional (7.5%) HP:0100490
45 abnormal localization of kidney occasional (7.5%) HP:0100542
46 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835

Drugs & Therapeutics for Hennekam Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hennekam Syndrome

Genetic Tests for Hennekam Syndrome

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Genetic tests related to Hennekam Syndrome:

id Genetic test Affiliating Genes
1 Hennekam Lymphangiectasia-Lymphedema Syndrome22 CCBE1

Anatomical Context for Hennekam Syndrome

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MalaCards organs/tissues related to Hennekam Syndrome:

Skin, Eye, Kidney, Tongue, Lung, Brain, B cells

Animal Models for Hennekam Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hennekam Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ALB, CCBE1, FLT4, PROX1
2MP:00053818.2ALB, EGF, FAT4, FLT4, PROX1
3MP:00028737.9ALB, CCBE1, EGF, FLT4, PROX1

Publications for Hennekam Syndrome

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Articles related to Hennekam Syndrome:

(show all 19)
Intestinal Lymphangiestasia with Hennekam Syndrome. (26863383)
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. (26686525)
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. (25925991)
Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. (24870712)
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (24913602)
Hennekam syndrome: a rare cause of primary lymphedema. (25148287)
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. (23180957)
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. (16780470)
Further delineation of Hennekam syndrome. (14564208)
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. (12794699)
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. (12376947)
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
Early death in two sisters with Hennekam syndrome. (10925377)
Two brothers with Hennekam syndrome and cerebral abnormalities. (10649792)
Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. (10609768)
Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. (9217224)
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (7645602)
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. (8465855)
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. (1897580)

Variations for Hennekam Syndrome

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Expression for genes affiliated with Hennekam Syndrome

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Search GEO for disease gene expression data for Hennekam Syndrome.

Pathways for genes affiliated with Hennekam Syndrome

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GO Terms for genes affiliated with Hennekam Syndrome

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Biological processes related to Hennekam Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor productionGO:001057510.1CCBE1, FLT4
2lymph vessel developmentGO:00019459.9FLT4, PROX1
3kidney developmentGO:00018229.9FAT4, PROX1
4peptidyl-tyrosine phosphorylationGO:00181089.8EGF, FLT4
5venous blood vessel morphogenesisGO:00488459.7CCBE1, PROX1
6platelet degranulationGO:00025769.4EGF, VEGFC
7vascular endothelial growth factor receptor signaling pathwayGO:00480108.9EGF, FLT4, VEGFC
8blood coagulationGO:00075968.4EGF, SERPINA1, VEGFC

Sources for Hennekam Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet