Aase syndrome - Symptoms,Causes
Aase syndrome is a rare disorder that involves anemiaanemia and certain joint and skeletal deformities.
Causes
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.
Symptoms
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)
EchocardiogramEchocardiogram
X-rays
Treatment
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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