A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
Acral dysostosis - dyserythropoiesis
Global developmental delay-osteopenia-ectodermal defect
Osteoporosis -- oculocutaneous -- hypopigmentation syndrome
Anophthalmia-short stature-obesity
Brachydactyly - arterial hypertension
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Polycystic kidneys, severe infantile, with tuberous sclerosis
Cholestasis -- pigmentary retinopathy -- cleft palate