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Acroosteolysis dominant type


Other Names:
Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome; Hajdu-Cheney syndrome; Serpentine fibula-polycystic kidneys syndrome See More
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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]
Last updated: 4/29/2016

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.

Showing of 106 |
Medical Terms Other Names
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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
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 0000047
Inguinal hernia 0000023
Intestinal malrotation 0002566
Iris coloboma
Cat eye
0000612
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ] 		0000294
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Mitral stenosis 0001718
Multiple renal cysts
Multiple kidney cysts
0005562
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Patellar dislocation
Dislocated kneecap
0002999
Patent ductus arteriosus 0001643
Pectus carinatum
Pigeon chest
0000768
Peripheral neuropathy 0009830
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Rough bone trabeculation 0100670
Skin ulcer
Open skin sore
0200042
Splenomegaly
Increased spleen size
0001744
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Thickened skin
Thick skin
0001072
Umbilical hernia 0001537
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology 0001671
Autosomal dominant inheritance 0000006
Basilar impression 0005758
Cervical instability 0008462
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Crowded carpal bones 0006180
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Dislocated radial head 0003083
Elongated sella turcica 0005463
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Foot acroosteolysis 0001842
Genu valgum
Knock knees
0002857
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hirsutism
Excessive hairiness
0001007
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Kyphoscoliosis 0002751
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] 		0009748
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Osteolytic defects of the phalanges of the hand
Breakdown of small bones of fingers
0009771
Pathologic fracture
Spontaneous fracture
0002756
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
Renal cyst
Kidney cyst
0000107
Short nail
Short nails
0001799
Tall lumbar vertebral bodies 0008421
Vertebral compression fractures
Compression fracture
0002953
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Last updated: 7/1/2020
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]
Last updated: 4/29/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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  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; http://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; http://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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800570/. Accessed 4/29/2016.