Medical Definition of Aase-Smith syndrome II

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Reviewed on 12/11/2018

Aase-Smith syndrome II: A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia).

The exact cause of the syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait.

The syndrome is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith. Alternative names for the syndrome include:
Anemia and triphalangeal thumbs
Congenital anemia and triphalangeal thumbs
Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.

CONTINUE SCROLLING OR CLICK HERE FOR RELATED SLIDESHOW

QUESTION

The abbreviated term ADHD denotes the condition commonly known as: See Answer

Health Solutions From Our Sponsors

Reviewed on 12/11/2018