Mastocytosis cutaneous with short stature conductive hearing loss and microtia

Title

Other Names:

Hennekam Beemer syndrome; Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Mastocytosis

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2135

Disease definition

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.

Visit the Orphanet disease page for more resources.

Last updated: 2/14/2006

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 57 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Areflexia	Absent tendon reflexes	0001284
Camptodactyly of finger	Permanent flexion of the finger	0100490
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Delayed cranial suture closure		0000270
Erythema		0010783
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized hyperpigmentation		0007440
High palate	Elevated palate Increased palatal height [ more ]	0000218
Irregular hyperpigmentation		0007400
Macule	Flat, discolored area of skin	0012733
Mastocytosis		0100495
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Muscular hypotonia	Low or weak muscle tone	0001252
Optic atrophy		0000648
Papule		0200034
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Seizures	Seizure	0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Urticaria	Hives	0001025
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Fatigue	Tired Tiredness [ more ]	0012378
Hypotension	Low blood pressure	0002615
Immunologic hypersensitivity		0100326
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Irritability	Irritable	0000737
Lichenification		0100725
Long nose	Elongated nose Increased height of nose Increased length of nose Increased nasal height Increased nasal length Nasal elongation [ more ]	0003189
Lower limb asymmetry		0100559
Pneumonia		0002090
Prominent supraorbital ridges	Prominent brow	0000336
Respiratory insufficiency	Respiratory impairment	0002093
Scoliosis	Abnormal curving of the spine	0002650
Severe global developmental delay		0011344
Skin vesicle	Blister	0200037
Telangiectasia of the skin		0100585
Thickened skin	Thick skin	0001072
Vomiting	Throwing up	0002013
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
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Abnormality of skin pigmentation	Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ]	0001000
Autosomal recessive inheritance		0000007
Cutaneous mastocytosis		0200151
Dermatographic urticaria		0011971
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430

Showing of 57 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

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

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Cromolyn sodium (Brand name: Gastrocrom® (oral)) - Manufactured by Azur Pharma
FDA-approved indication: Treatment of mastocytosis.
National Library of Medicine Drug Information Portal

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.

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.

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 Mastocytosis cutaneous with short stature conductive hearing loss and microtia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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.

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