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Disease Profile
Craniofacial dyssynostosis
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
Neonatal
ICD-10
Q87.0
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)
Craniosynostosis-craniofacial dysostosis syndrome; Craniofacial dyssynostosis and short stature
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1516
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 | ||
0001363 | ||
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Frontal bossing | 0002007 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Severe global |
0011344 | |
30%-79% of people have these symptoms | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Umbilical hernia | 0001537 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
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 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Nevus flammeus |
port-wine stain
|
0001052 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Patent ductus arteriosus | 0001643 | |
Sacral dimple |
Spinal dimple
|
0000960 |
Short neck |
Decreased length of neck
|
0000470 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal location of ears | 0000357 | |
Abnormal shape of the occiput |
Abnormal shape of posterior skull
Abnormal shape of the back of the skull
[ more ] |
0011217 |
Agenesis of corpus callosum | 0001274 | |
Arnold-Chiari type I malformation | 0007099 | |
Brachyturricephaly |
High, prominent forehead
|
0000244 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Enlarged cisterna magna | 0002280 | |
Esotropia |
Inward turning cross eyed
|
0000565 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High forehead | 0000348 | |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Pyloric stenosis | 0002021 | |
0001250 | ||
Sporadic |
No previous family history
|
0003745 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Ventriculomegaly | 0002119 |
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 dyssynostosis. Click on the link to view a sample search on this topic.