Rare Cardiology News
Advertisement
Disease Profile
Craniofacial dysostosis with diaphyseal hyperplasia
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 >
Age of onset
Neonatal
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)
Dysostosis Stanescu type; Stanescu osteosclerosis
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1798
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 nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ] |
0005105 |
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Short fingers or toes
|
0001156 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Flat face |
Flat facial shape
|
0012368 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] |
0010669 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Massively thickened long bone cortices | 0005665 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 |
Pectus excavatum |
Funnel chest
|
0000767 |
Persistent open anterior fontanelle | 0004474 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
5%-29% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
Short neck |
Decreased length of neck
|
0000470 |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Craniofacial dysostosis | 0004439 | |
Kyphoscoliosis | 0002751 | |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Thin calvarium |
Thin cranial bone
|
0010539 |
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 Craniofacial dysostosis with diaphyseal hyperplasia. Click on the link to view a sample search on this topic.