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Disease Profile
Osteopathia striata with cranial sclerosis
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.
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Age of onset
Infancy
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.
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.
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.
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
Other names (AKA)
OSCS; Hyperostosis generalisata with striations; Osteopathia striata cranial sclerosis;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and
Symptoms
The symptoms in females with OSCS can range from very mild to severe. Males with OSCS usually (but not always) have very severe symptoms and die before or shortly after birth.[3]
Symptoms of OSCS may include:[4][5985]
- Abnormal thickening of the bones (especially the long bones)
- Large head size (macrocephaly)
- Hardening of the bones of the head and face
Cleft palate Hearing loss
Less common features include heart defects, gastrointestinal abnormalities, and
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 | |||
Coarse metaphyseal trabecularization | 0100670 | ||
Facial hyperostosis |
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones
[ more ] |
0005465 | |
Growth |
0000845 | ||
High iliac wings | 0008808 | ||
Increased circulating prolactin concentration | 0000870 | ||
Increased serum insulin-like growth factor 1 | 0030269 | ||
Large iliac wings | 0008818 | ||
Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 | |
Tall stature |
Increased body height
|
0000098 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 | |
30%-79% of people have these symptoms | |||
Abnormal oral glucose tolerance | 0004924 | ||
Abnormality of optic chiasm morphology | 0025163 | ||
Bifid uvula | 0000193 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Decreased thyroid-stimulating hormone level | 0031098 | ||
Delayed cranial suture closure | 0000270 | ||
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 | |
Fasting hyperinsulinemia |
High blood insulin levels while fasting
|
0008283 | |
Flat occiput | 0005469 | ||
Frontal bossing | 0002007 | ||
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 | |
Increased body mass index | 0031418 | ||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | ||
Large fontanelles |
Wide fontanelles
|
0000239 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Pituitary adenoma |
Noncancerous tumor in pituitary gland
|
0002893 | |
Polyphagia |
Voracious appetite
|
0002591 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 | |
0002650 | |||
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 | |
Snoring | 0025267 | ||
Submucous cleft hard palate | 0000176 | ||
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
5%-29% of people have these symptoms | |||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 | |
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 | |
Abnormality of the skeletal system |
Skeletal abnormalities
Skeletal anomalies
[ more ] |
0000924 | |
Darkened and thickened skin
|
0000956 | ||
Adrenocorticotropic hormone deficiency | 0011748 | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 | |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 | |
Asymmetry of the thorax |
Asymmetric chest
|
0001555 | |
0001251 | |||
Brachycephaly |
Short and broad skull
|
0000248 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | |
Diabetes insipidus | 0000873 | ||
Diastema |
Gap between teeth
|
0000699 | |
Dysphasia | 0002357 | ||
Echolalia |
Echoing another person's speech
|
0010529 | |
Enlarged pituitary gland | 0012505 | ||
Epicanthus |
Eye folds
Promi
Cause Osteopathia striata with cranial sclerosis occurs when the AMER1
DiagnosisMaking 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
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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 moreThese 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
References
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