Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hajdu-Cheney syndrome does not have a unique, dedicated code in the ICD-10 or ICD-9 systems; instead, it is typically classified under broader categories for osteolysis or acro-osteolysis syndromes. Clinicians often use ICD-10 code Q79.8 (Other congenital malformations of musculoskeletal system) or ICD-9 code 756.59 (Other specified osteodysplasia) to facilitate billing and documentation for patients with this rare condition. What is the clinical nature of Hajdu-Cheney syndrome? Hajdu-Cheney syndrome is an exceptionally rare multisystem disorder characterized by progressive acro-osteolysis (the resorption of the terminal phalanges of the fingers and toes).
ICD10 code of Hajdu-Cheney Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Hajdu-Cheney Syndrome, with classification details for clinicians, coders and patients.
Hajdu-Cheney syndrome does not have a unique, dedicated code in the ICD-10 or ICD-9 systems; instead, it is typically classified under broader categories for osteolysis or acro-osteolysis syndromes. Clinicians often use ICD-10 code Q79.8 (Other congenital malformations of musculoskeletal system) or ICD-9 code 756.59 (Other specified osteodysplasia) to facilitate billing and documentation for patients with this rare condition.
What is the clinical nature of Hajdu-Cheney syndrome?
Hajdu-Cheney syndrome is an exceptionally rare multisystem disorder characterized by progressive acro-osteolysis (the resorption of the terminal phalanges of the fingers and toes). Beyond bone involvement, Hajdu-Cheney syndrome often presents with craniofacial abnormalities, dental anomalies, and early-onset osteoporosis. Because the condition is so rare—with fewer than 100 cases reported in global medical literature—coding can be challenging for healthcare providers, often requiring the use of supplementary codes to describe specific skeletal manifestations.
Is Hajdu-Cheney syndrome hereditary?
Yes, Hajdu-Cheney syndrome is a genetic condition caused by heterozygous, gain-of-function mutations in the NOTCH2 gene. It typically follows an autosomal dominant inheritance pattern, meaning a child of an affected parent has a 50% chance of inheriting the mutation. In some instances, Hajdu-Cheney syndrome may occur as a *de novo* mutation in an individual with no prior family history.
What are the primary diagnostic features?
Diagnosis of Hajdu-Cheney syndrome is usually confirmed through molecular genetic testing targeting the NOTCH2 gene. Clinicians look for specific clinical and radiological hallmarks, including:
- Progressive resorption of distal phalanges (acro-osteolysis).
- Characteristic craniofacial features, such as low-set ears and a flattened midface.
- Severe, early-onset osteoporosis leading to increased fracture risk.
- Delayed eruption and premature loss of primary and permanent teeth.
- Basilar invagination or other neurological complications related to skeletal changes.
Next steps
- Consult with a clinical geneticist to confirm a diagnosis of Hajdu-Cheney syndrome through NOTCH2 sequencing.
- Connect with the DiseaseMaps.org community, where 5 individuals have shared their experiences, to find peer support and shared insights.
- Coordinate care with a multidisciplinary team including an endocrinologist, orthopedist, and dentist to manage the systemic effects of Hajdu-Cheney syndrome.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Hajdu-Cheney syndrome.
- Online Mendelian Inheritance in Man (OMIM): #102500 - Hajdu-Cheney Syndrome.
- Orphanet: ORPHA2074 - Hajdu-Cheney syndrome.
- PubMed: Recent clinical reviews on NOTCH2-related skeletal disorders.
