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Disease Profile

Acroosteolysis dominant type

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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

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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.

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Not applicable

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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 syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. [1][2][3][4] Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.[2]

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
Brachydactyly
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
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Osteolysis
Breakdown of bone
0002797
Osteopenia
0000938
Osteoporosis
0000939
Partial absence of toe
0011305
Periodontitis
0000704
Short distal phalanx of finger
Short outermost finger bone
0009882
Short stature
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
Scoliosis
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
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
Hydrocephalus
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

Cause

Acroosteolysis dominant type is caused by mutations in the NOTCH2 gene. It is inherited in an autosomal dominant manner. However, most cases result from a new mutation and occur in people with no family history of the condition.[1][2]

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 Acroosteolysis dominant type. Click on the link to view a sample search on this topic.

References

  1. Hajdu-Cheney syndrome. Genetics Home Reference. February, 2015; https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome. Accessed 4/29/2016.
  2. Nishimura, Gen. Acroosteolysis dominant type. Orphanet. April, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=955. Accessed 4/29/2016.
  3. Hajdu Cheney Syndrome. National Organization of Rare Disorders (NORD). 2005; https://rarediseases.org/rare-diseases/hajdu-cheney-syndrome/. Accessed 4/29/2016.
  4. Samuel, Shini Susan et al. Hajdu Cheney Syndrome. J Clin Diagn res.. February, 2016; 10(2):OD07-OD09. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800570/. Accessed 4/29/2016.

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