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Disease Profile

OSMED Syndrome

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

Q77.7

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)

Oto-Spondylo-Mega-Epiphyseal Dysplasia; OSMED; Otospondylomegaepiphyseal dysplasia;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 1427

Definition
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

Epidemiology
The prevalence is unknown but less than 30 cases have been described in the literature so far.

Clinical description
Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/bifid uvula, micrognathia, and hypertelorism. Joint pain and restricted mobility of the metacarpophalangeal joints appear during the second decade of life. The sensorineural hearing loss is generally described as moderate and nonprogressive. Early onset of osteoarthritis has also been reported.

Etiology
OSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygous mutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen.

Diagnostic methods
Diagnosis is made on the basis of the clinical phenotype and typical radiographic findings: shortening of the long bones (humerus, radius, ulna, tibia, and fibula) with large epiphyses and metaphyseal flaring, coronal clefting and mild to moderate platyspondyly.

Differential diagnosis
OSMED shows significant clinical overlap with Weissenbacher-Zweymuller syndrome (WZS) and Stickler syndrome (see these terms). Whilst OSMED and Stickler syndrome can be distinguished early in life due to the absence of ocular anomalies in OSMED, differentiation of OSMED and WZS (also associated with heterozygous mutations in the COL11A2 gene) may be more problematic.

Genetic counseling
OSMED is inherited as an autosomal recessive trait.

Management and treatment
Treatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain.

Prognosis
The prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain.

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
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cleft palate
Cleft roof of mouth
0000175
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Malar flattening
Zygomatic flattening
0000272
Micromelia
Smaller or shorter than typical limbs
0002983
Platyspondyly
Flattened vertebrae
0000926
Sensorineural hearing impairment
0000407
30%-79% of people have these symptoms
Abnormality of the skin
0000951
Feeding difficulties in infancy
0008872
Hyperlordosis
Prominent swayback
0003307
Kyphosis
Hunched back
Round back

[ more ]

0002808
Recurrent pneumonia
0006532
5%-29% of people have these symptoms
Abnormal lacrimal duct morphology
0011481
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Synostosis of carpal bones
Fusion of wrist bones
0005048
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Aplasia/Hypoplasia of the capital femoral epiphysis
Absent/small end part of innermost thighbone
Absent/underdeveloped end part of innermost thighbone

[ more ]

0005003
Arthralgia
Joint pain
0002829
Autosomal recessive inheritance
0000007
Beaking of vertebral bodies
0004568
Bulbous nose
0000414
Coronal cleft vertebrae
0003417
Enlarged joints
0003037
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
Flared metaphysis
Flared wide portion of long bone
0003015
Flexion contracture
Flexed joint that cannot be straightened
0001371
Large tarsal bones
Large ankle bones
0004679
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss

[ more ]

0000410
Pierre-Robin sequence
0000201
Premature osteoarthritis
Premature arthritis
0003088
Prominent interphalangeal joints
Prominent hinge joints
0006237
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short palm
0004279
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature

[ more ]

0004322

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.

    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

      Organizations Providing General Support

        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. 
          • 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 OSMED Syndrome. Click on the link to view a sample search on this topic.