Aase syndrome - Symptoms,Causes

by Adam 2010-07-18 10:50:08

Aase syndrome - Symptoms,Causes

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


Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited.

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


Absent or small knuckles

Cleft palateCleft palate

Decreased skin creases at finger joints

Deformed ears

Droopy eyelids

Inability to fully extend the joints from birth (contracture deformitycontracture deformity)

Narrow shoulders

Pale skinPale skin

Triple-jointed thumbs

Exams and Tests

Signs may include:

Delayed closure of soft spots (fontanellesfontanelles)

Mildly slowed growth

Tests that may be done include:

Bone marrow biopsyBone marrow biopsy

Complete blood countComplete blood count (CBC)




Blood transfusions are given in the first year of life to treat anemia. 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 doctor who has experience treating anemias.

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

Update Date: 8/11/2009

Updated by:

Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Aase syndrome - Symptoms,Causes

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