Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanHajdu-Cheney syndrome
ORPHA:955Malformation syndrome
Also called Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible · Arthrodentoosteodysplasia · Cheney syndrome
What it is
A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
18- Abnormal facial shape
- Abnormal skull morphology
- Brachydactyly
- Decreased skull ossification
- Downslanted palpebral fissures
- Hypertelorism
- Long philtrum
- Micrognathia
- Osteolysis
- Osteopenia
- Osteoporosis
- Partial absence of toe
- Periodontitis
- Short distal phalanx of finger
- Short stature
- Short toe
- Skeletal dysplasia
- Thick eyebrow
Common30–79%
29- Abnormal fingernail morphology
- Abnormality of the dentition
- Abnormality of the mandible
- Absent frontal sinuses
- Anteverted nares
- Arthralgia
- Biconcave vertebral bodies
- Bone pain
- Chiari malformation
- Coarse facial features
- Dolichocephaly
- Downturned corners of mouth
- Full cheeks
- Generalized hirsutism
- Hearing impairment
- Hypoplastic 5th lumbar vertebrae
- Joint hypermobility
- Macrocephaly
- Narrow mouth
- Open bite
- Platybasia
- Prominent occiput
- Recurrent fractures
- Scoliosis
- Short neck
- Telecanthus
- Thin vermilion border
- Wide nose
- Wormian bones
Sometimes5–29%
39- Abnormal cardiovascular system morphology
- Abnormality of the voice
- Aortic valve stenosis
- Bowing of the long bones
- Cataract
- Cleft palate
- Coarse hair
- Delayed puberty
and 31 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.