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Disease Profile
Acroosteolysis dominant type
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
M89.5
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)
Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases
Summary
Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney
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 | ||
Short fingers or toes
|
0001156 | |
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Osteolysis |
Breakdown of bone
|
0002797 |
Osteopenia | 0000938 | |
0000939 | ||
Partial absence of toe | 0011305 | |
Periodontitis | 0000704 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Skeletal dysplasia | 0002652 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Absent frontal sinuses | 0002688 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Arnold-Chiari malformation | 0002308 | |
Arthralgia |
Joint pain
|
0002829 |
Biconcave vertebral bodies | 0004586 | |
Bone pain | 0002653 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplastic 5th lumbar vertebrae |
Underdeveloped 5th lumbar vertebrae
|
0008424 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Narrow mouth |
Small mouth
|
0000160 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Platybasia | 0002691 | |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
5%-29% of people have these symptoms | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cleft roof of mouth
|
0000175 | |
Coarse hair |
Coarse hair texture
|
0002208 |
Coarse metaphyseal trabecularization | 0100670 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Dry skin | 0000958 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Headache |
Headaches
|
0002315 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] |
0010669 |
Hypospadias |
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
Rare Rheumatology News |