Rare Pulmonology News
Disease Profile
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
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.
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
Age of onset
Neonatal
ICD-10
Q82.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Hennekam Beemer syndrome
Categories
Congenital and Genetic Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2135
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.
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 | ||
| 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 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
| Muscular |
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 |
| 0001250 | ||
|
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 | |
|
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 |
Left and right leg differ in length or width
|
0100559 |
| Pneumonia | 0002090 | |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 0002650 | ||
| Severe global |
0011344 | |
| Skin vesicle | 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 |
| 1%-4% of people have these symptoms | ||
| Cutaneous mastocytosis | 0200151 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Joint |
0009183 | |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Percent of people who have these symptoms is not available through HPO | ||
TreatmentFDA-Approved TreatmentsThe 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.
Learn moreThese 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
Rare Pulmonology News | ||