Dysosteosclerosis

Title

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

Orpha Number: 1782

Disease 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.

Last updated: 3/8/2013

Symptoms 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.

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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
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
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		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
Rough bone trabeculation		0100670
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
Seizures	Seizure	0001250
Short diaphyses	Short shaft of long bone	0000941
Short ribs		0000773
Short sternum		0000879

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More 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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