Dysosteosclerosis

Rare Pediatrics News

2012

Rare Pediatrics News

Disease Profile

Dysosteosclerosis

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q78.8

Inheritance

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.

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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.

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.

Not applicable

Summary

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

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. Rare Pediatrics News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Pediatrician News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Pediatrician News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

In-Depth Information

Rare Pediatrics News

Rare Pediatrics News

Infancy

Q78.8

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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.

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.

Not applicable

Categories

Summary

Symptoms

Learn more

Rare Pediatrics News

Rare Pediatrics News

Infancy

Q78.8

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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.

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.

Not applicable

Categories

Summary

Symptoms

Learn more

In-Depth Information

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.