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Detailed information of Aasw Syndrome
AASE SYNDROME
DEFINITION:
A disorder characterized by congenital hypoplasic anemia and
triphalangeal thumbs.
EPIDEMIOLOGY:
- incidence: rare
- age of onset:
- risk factors:
- familial - autosomal recessive
PATHOGENESIS:
- one of at least 3 autosomal recessive syndromes associated
with hematopoietic and skeletal anomalies
- other syndromes:
- Fanconi Anemia
- Thrombocytopenia-Absent Radius (TAR) Syndrome
- etiology is unknown but is considered to be one of at least
3 disorders where there is a congenital deficiency in erythroid
precursors
- other congenital single cytopenias:
- Diamond-Blackfan Syndrome
- Congenital Dyserythropoietic Anemia
CLINICAL FEATURES:
- onset in newborn period but tends to improve with age
- pallor and lethargy
2. Musculoskeletal Manifestations
- short stature
- triphalangeal thumbs with mild radial hypoplasia
- narrow shoulders
- late closure of fontanelles
3. Others
INVESTIGATIONS:
- Hb: normocytic or macrocytic, increased HbF, low
reticulocytes
- variable leukopenia
2. Imaging Studies
3. Chromosomal Breakage Analysis
MANAGEMENT:
- steroids (prednisone) and/or PRBC transfusions
- anemia tends to improve with time
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Pediatric Database - AASE SYNDROME
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