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Diaphyseal medullary stenosis-bone malignancy syndrome

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Disease definition

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

ORPHA:85182

Classification level: Disorder

Synonym(s):
  • Bone dysplasia-medullary fibrosarcoma syndrome
  • Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
  • Hardcastle syndrome

Prevalence: -

Inheritance: Autosomal dominant

Age of onset:

ICD-10: M89.8

ICD-11: LD24.1Y

OMIM: 112250

UMLS: C1862177

MeSH: C536169

GARD: 10072

A summary on this disease is available in Español (2012) Deutsch (2012) Italiano (2012) Nederlands (2012)
Additional information

Further information on this disease

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Specialised Social Services

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.