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.





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







The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2010, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.



Tagged in:

548
like
0
dislike
0
mail
flag

You must LOGIN to add comments