Rare Rheumatology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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)

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.
orphanet

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
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
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
Left and right leg differ in length or width
0100559
Pneumonia
0002090
Prominent supraorbital ridges
Prominent brow
0000336
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis
0002650
Severe global developmental delay
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 contracture of the 5th finger
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

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.

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

  • The Mast Cell Disease Society provides information about mast cell diseases, including Mastocytosis cutaneous with short stature conductive hearing loss and microtia.

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.

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