Rare Hematology News

Disease Profile

Dysosteosclerosis

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

Infancy

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ICD-10

Q78.8

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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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.
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Orpha Number: 1782

Definition
Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Epidemiology
Less than 30 cases have been reported in the literature to date.

Clinical description
The disease is characterized by sclerosis of the skull base, ribs, clavicles, scapulae, mid-diaphyses and increased bone fragility. Patients have a prominent forehead, narrow midface, flattening of the vertebral bodies and dental anomalies. Short stature, optic atrophy, hearing impairment, epilepsy, skin changes, and progressive psychomotor deficit are frequent.

Etiology
The disease is caused by mutations in SLC29A33. This gene encodes a nucleoside transporter. Mutations in this gene may also cause Faisalabad histiocytosis, RosaÔ-Dorfman disease, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (see these terms). Parental consanguinity has been noted in some cases.

Genetic counseling
Dysosteosclerosis is inherited in an autosomal recessive manner, but an X-linked pedigree has also been reported.

Prognosis
The overall prognosis is generally poor.

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
Abnormal cranial nerve morphology
0001291
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Coarse metaphyseal trabecularization
0100670
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Increased bone mineral density
Increased bone density
0011001
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Irregular vertebral endplates
0003301
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Platyspondyly
Flattened vertebrae
0000926
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Short stature
Decreased body height
Small stature

[ more ]

0004322
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Percent of people who have these symptoms is not available through HPO
Abducens palsy
0011349
Abnormal metaphyseal trabeculation
0005089
Absent frontal sinuses
0002688
Absent paranasal sinuses
Missing paranasal sinuses
0002689
Autosomal recessive inheritance
0000007
Blindness
0000618
Broad femoral neck
0006429
Broad ribs
Wide ribs
0000885
Clavicular sclerosis
Increased bone density in collarbone
0100923
Delayed closure of the anterior fontanelle
Later than typical closing of soft spot of skull
0001476
Dermal atrophy
Skin degeneration
0004334
Diaphyseal thickening
Thickening of shaft or central part of long bones
0005019
Disproportionate short stature
0003498
Facial paralysis
0007209
Flared metaphysis
Flared wide portion of long bone
0003015
Frontal bossing
0002007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Increased intervertebral space
0030320
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

0002659
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow iliac wings
0002868
Natal tooth
Born with teeth
Teeth present at birth

[ more ]

0000695
Obstructive sleep apnea
0002870
Oligodontia
Failure of development of more than six teeth
0000677
Osteopenia
0000938
Parietal bossing
0000242
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss

[ more ]

0006480
Progressive bowing of long bones
0006383
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Sclerosis of hand bone
Increased bone density in hand bone
0004054
Sclerosis of skull base
Dense bone of skull base
0002694
Sclerotic scapulae
0001474
Seizure
0001250
Short diaphyses
Short shaft of long bone
0000941
Short ribs
0000773
Short sternum
000087

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 Dysosteosclerosis. Click on the link to view a sample search on this topic.

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