Aase syndrome
Incidence
Transmission seems to be autosomal recessive. Very rare condition.
Clinical Characteristics
Aase syndrome is a very rare syndrome, characterized by hematological and malformative defects. Patients present with congenital hypoplastic anemia and erythroblastopenia of progressive course sometimes associated with leukopenia. It may be detected during early infancy. Newborns are pale, lethargic and dyspneic while sucking, which leads to feeding difficulties. Triphalangeal thumbs with mild radial hypoplasia and growth retardation are constant signs. Malformative defects also include cleft lip or palate, ventricular septal defects, narrow and sloping shoulders, various osseous radiological features. Other malformations of sporadic occurrence have been associated to this syndrome. Mental retardation is also described. Transmission seems to be autosomal recessive. Multidisciplinary medical care is necessary, consisting mainly of corticotherapy, red blood cell transfusion and cardiac and facial surgery. Prognosis depends on the response to corticotherapy and on the presence of a cardiac defect.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.