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Disease Profile

Morquio syndrome B

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.

Unknown

Age of onset

-

ICD-10

E76.2

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)

Mucopolysaccharidosis type IVB; MPS IVB; MPS 4B

Categories

Metabolic disorders

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
Percent of people who have these symptoms is not available through HPO
Aortic valve stenosis
Narrowing of aortic valve
0001650
Autosomal recessive inheritance
0000007
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Cervical myelopathy
0002318
Cervical subluxation
0003308
Coarse facial features
Coarse facial appearance
0000280
Constricted iliac wings
0003277
Coxa valga
0002673
Decreased beta-galactosidase activity
0008166
Disproportionate short-trunk short stature
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism

[ more ]

0003521
Epiphyseal deformities of tubular bones
0003053
Flaring of rib cage
0000904
Genu valgum
Knock knees
0002857
Grayish enamel
Gray colored tooth enamel
Greyish enamel

[ more ]

0000683
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hepatomegaly
Enlarged liver
0002240
Hyperlordosis
Prominent swayback
0003307
Hypoplasia of the odontoid process
0003311
Inguinal hernia
0000023
Intimal thickening in the coronary arteries
0005292
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Keratan sulfate excretion in urine
0012069
Kyphosis
Hunched back
Round back

[ more ]

0002808
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Metaphyseal widening
Broad wide portion of long bone
0003016
Opacification of the corneal stroma
0007759
Osteoporosis
0000939
Ovoid vertebral bodies
0003300
Platyspondyly
Flattened vertebrae
0000926
Pointed proximal second through fifth metacarpals
0001223
Prominent sternum
0000884
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Scoliosis
0002650
Ulnar deviation of the wrist
0003049
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

0000687

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

    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

      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

        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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Morquio syndrome B. Click on the link to view a sample search on this topic.