Congenital myelopathies are very rare bone marrow diseases. They manifest initially in small or school age children.



There are a number of hereditary panmyelopathies, i.e., functional disorders of the bone marrow, that affect all 3 cell types (red and white cells as well as the thrombocytes). The most frequent are summarized as follows.

The most frequent diseases of all three cell lines:


Blood clotting disorders

Congenital blood clotting disorders are caused by a genetic defect of the megakaryocytes (precursor of thrombocytes) or the plasmatic coagulation factors.


In the thrombocytopenias one distinguishes between two autosomal recessive hereditary forms:

  • Amegakaryocytic thrombopenia
  • Thrombocytopenia with radius aplasia


Hereditary coagulopathies

Today one knows many differing coagulopathies. Most of them are inherited autosomal recessively. The only exceptions are hemophilias A and B, which are X chromosomal recessively inherited.


Disorders of the lymph vessels

Primary lymphatic edema is subdivided into 3 groups:

  • Congenital lymphatic edema is present already at birth: Milroy disease
  • Somewhat later (mostly in adolescence but before age 35) lymphatic edema praecox commences: Meige disease
  • Lymphatic edema tarda begins only after age 35