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Hennekam syndrome


Información en español Title


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Other Names:
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; Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases; Nervous System Diseases; Skin Diseases See More

Summary Summary


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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]
Last updated: 2/17/2016

Symptoms Symptoms


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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.

Showing of 87 |
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
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers
[ more ]
0010554
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Hirsutism
Excessive hairiness
0001007
Hydronephrosis 0000126
Hyperactivity
More active than typical
0000752
Hypoalbuminemia
Low blood albumin
0003073
Hypoplastic iliac wing 0002866
Intestinal lymphangiectasia 0002593
Joint contracture of the hand 0009473
Malar flattening
Zygomatic flattening
0000272
Narrow palate
Narrow roof of mouth
0000189
Oligodontia
Failure of development of more than six teeth
0000677
Pectus excavatum
Funnel chest
0000767
Pericardial lymphangiectasia 0005183
Periorbital edema 0100539
Pleural effusion
Fluid around lungs
0002202
Pleural lymphangiectasia 0006531
Protein-losing enteropathy 0002243
Rectal prolapse
Rectum protrudes through anus
0002035
Scoliosis 0002650
Sensorineural hearing impairment 0000407
Short foot
Short feet
Small feet
[ more ]
0001773
Short palm 0004279
Small hand
Disproportionately small hands
0200055
Smooth philtrum 0000319
Spina bifida occulta 0003298
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Thyroid lymphangiectasia 0008229
Umbilical hernia 0001537
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vesicoureteral reflux 0000076
Showing of 87 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include other rare syndromes associated with congenital lymphoedema such ascholestasis-lymphoedema syndrome, as well as Noonan syndrome (see these terms).
Visit the Orphanet disease page for more information.

Organizations Organizations


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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

  • National Lymphedema Network (NLN)
    411 Lafayette Street, 6th Floor
    New York, NY 10003
    Toll-free: +1- 646-722-7410
    E-mail: nln@lymphnet.org
    Website: http://www.lymphnet.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Hennekam syndrome. This website is maintained by the National Library of Medicine.

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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Hennekam syndrome. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/hennekam-syndrome.
  2. HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1. OMIM. September 2014; http://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.
Do you know of a review article? We want to hear from you.
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