Disease Profile

Hennekam syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Childhood

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ICD-10

Q87.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Lymphangiectasies and lymphedema Hennekam type; Hennekam lymphangiectasia lymphedema syndrome; Intestinal lymphagiectasia lymphedema intellectual deficit syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases;

Summary

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.[1][2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Decreased circulating antibody level
0004313
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
External ear malformation
0008572
Flat face
Flat facial shape
0012368
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth

[ more ]

0011069
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Lymphangioma
0100764
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Malabsorption
Intestinal malabsorption
0002024
Mild postnatal growth retardation
0001530
Reduced number of teeth
Decreased tooth count
0009804
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Ascites
Accumulation of fluid in the abdomen
0001541
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Erysipelas
0001055
Gingival overgrowth
Gum enlargement
0000212
Glaucoma
0000501
Lymphadenopathy
Swollen lymph nodes
0002716
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Seizure
0001250
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Abnormal foot morphology
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity

[ more ]

0001760
Arteriovenous malformation
0100026
Benign neoplasm of the central nervous system
0100835
Camptodactyly of finger
Permanent flexion of the finger
0100490
Chylothorax
0010310
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Craniosynostosis
0001363
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Finger syndactyly
0006101
Horseshoe kidney
Horseshoe kidneys
0000085
Hydrops fetalis
0001789
Hypocalcemia
Low blood calcium levels
0002901
Narrow mouth
Small mouth
0000160
Pachygyria
Fewer and broader ridges in brain
0001302
Pericardial effusion
Fluid around heart
0001698
Pulmonary lymphangiectasia
0006521
Pyloric stenosis
0002021
Respiratory insufficiency
Respiratory impairment
0002093
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Short philtrum
0000322
Sparse axillary hair
Limited armpit hair
Little underarm hair

[ more ]

0002215
Percent of people who have these symptoms is not available through HPO
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Bilateral single transverse palmar creases
0007598
Camptodactyly
Permanent flexion of the finger or toe
0012385
Conical incisor
Cone shaped front tooth
Shark tooth incisor

[ more ]

0011065
Coronal craniosynostosis
0004440

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn More

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Hennekam syndrome. Click on the link to view a sample search on this topic.

        References

        1. Hennekam syndrome. Genetics Home Reference. July 2014; https://ghr.nlm.nih.gov/condition/hennekam-syndrome.
        2. HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1. OMIM. September 2014; https://www.omim.org/entry/235510.
        3. Frosk P1,2, Chodirker B3,4, Simard L5, El-Matary W6, Hanlon-Dearman A7, Schwartzentruber J8, Majewski J9; FORGE Canada Consortium, Rockman-Greenberg C. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet. April 2015; 16:28.