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Aase syndrome

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

Causes

Many cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases (45%) have been shown to be inherited. These are due to a change in 1 of 9 genes important for making protein correctly (the genes make ribosomal proteins)

This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.

The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.

Symptoms

Symptoms may include:

  • Absent or small knuckles
  • Cleft palate
  • Decreased skin creases at finger joints
  • Deformed ears
  • Droopy eyelids
  • Inability to fully extend the joints from birth (contracture deformity)
  • Narrow shoulders
  • Pale skin
  • Triple-jointed thumbs

Exams and Tests

The health care provider will perform a physical exam. Tests that may be done include:

Treatment

Treatment may involve blood transfusions in the first year of life to treat anemia.

A steroid medicine called prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a provider who has experience treating anemias.

A bone marrow transplant may be necessary if other treatment fails.

Outlook (Prognosis)

The anemia tends to improve with age.

Possible Complications

Complications related to anemia include:

  • Fatigue
  • Decreased oxygen in the blood
  • Weakness

Heart problems can lead to a variety of complications, depending on the specific defect.

Severe cases of Aase syndrome have been associated with stillbirth or early death.

Prevention

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type

References

Clinton C, Gazda HT. Diamond-Blackfan anemia. Gene Reviews. Seattle, WA: University of Washington; 2014:9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Accessed August 1, 2015.

Jones KL, Jones MC, Del Campo M. Facial-limb defect as major feature. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap I.

Update Date 8/1/2015

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