Hennekam syndrome

Información en español Title

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

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

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 antibody level in blood		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
Seizures	Seizure	0001250
Splenomegaly	Increased spleen size	0001744
5%-29% of people have these symptoms
Abnormality of the foot	Abnormal feet morphology Abnormality of the feet 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	Puffiness around the eyes Puffy eyes Swelling around the eyes [ more ]	0100539
Pleural effusion	Fluid around lungs	0002202
Pleural lymphangiectasia		0006531
Protein-losing enteropathy		0002243
Rectal prolapse	Rectum protrudes through anus	0002035
Scoliosis	Abnormal curving of the spine	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: 11/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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

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

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

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

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

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

Hennekam syndrome. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/hennekam-syndrome.
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1. OMIM. September 2014; http://www.omim.org/entry/235510.
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.

You can help advance
rare disease research! You can help advance rare disease research!