Saturday, February, 11, 2012

Aase syndrome

Table of Contents

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome


Symptoms
  • 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

Signs and tests

Signs may include:

  • Delayed closure of soft spots (fontanelles)
  • Mildly slowed growth

Tests that may be done include:

  • Bone marrow biopsy
  • Complete blood count (CBC)
  • Echocardiogram
  • X-rays

Review Date: 08/11/2009
Reviewed 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)