GTR Home > Conditions/Phenotypes > Aase syndrome

Disease characteristics

Excerpted from the GeneReview: Diamond-Blackfan Anemia
Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.

Available tests

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Associated genes

Clinical features

  • Neutropenia
  • Strabismus
  • Thrombocytopenia
  • Persistence of hemoglobin F
  • Absent thumb
  • Short stature
  • Short neck
  • Erythrocyte macrocytosis
  • Reticulocytopenia
  • triphalangeal thumb
  • 11 pairs of ribs
  • Depressed nasal ridge
  • Intellectual disability
  • Microcephaly
  • Hypoplastic ilia
  • Coarctation of aorta
  • Retrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Downslanted palpebral fissures
  • Micrognathia
  • Myelodysplasia
  • Premature birth
  • Cleft palate
  • Failure to thrive
  • Bifid thoracic vertebrae
  • Hypoplastic sacral vertebrae
  • Hypoplastic coccygeal vertebrae
  • Cleft upper lip
  • High palate
  • Delayed cranial suture closure
  • Hypertelorism
  • Webbed neck
  • Narrow chest
  • Pallor
  • Defect in the atrial septum
  • Congestive heart failure
  • Thrombocytosis
  • Macrocytic anemia
  • Osteosarcoma
  • Parietal foramina
  • Hypoplasia of the radius
  • Colon cancer
  • Congenital hypoplastic anemia
  • Short thumb
  • Partial duplication of thumb phalanx
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