People suffering from this disease often have varying degrees of the following symptoms. People with the disease often have overall inflammation with skeletal symptoms that could include increased bone density associated with dysplasia. Specifically, the extremities are especially thick and long; bones can be seen with wide diaphyseal medullary cavities. Most early manifestations of this disease are bowing of the legs and forearms with general weakness of the legs. The bowing of the legs is usually seen in adolescence, with the child often taking longer than average to walk. The increased bone density manifests with the skull with general widening of diploic space. Also, a thickened skull base suggests diaphyseal dysplasia, which can lead to sclerosis of the base of the skull. When it comes to blood, most symptoms can be summarized as defective hematopoiesis. It is speculated that this is due to the metadiaphyseal dysplasia of the long bones and fibrosis or sclerosis of the bone marrow. The symptoms can include corticosteroid-sensitive anemia, thrombocytopenia, hypocellular bone marrow, and myelofibrosis. The key symptom here is progressive anemia, and symptoms like thrombocytopenia or leukopenia may be present with varying degrees of penetrance between patients.
Ghosal hematodiaphyseal dysplasia
Pseudo-Hurler polydystrophy
Craniodiaphyseal dysplasia
Sirenomelia
Achondrogenesis type 2
Mesomelia
Acrofrontofacionasal dysostosis
Thanatophoric dysplasia