Friday, February, 10, 2012

Morquio syndrome

Table of Contents

Alternative Names

Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV


Symptoms
  • Abnormal development of bones, including the spine
  • Bell-shaped chest with ribs flared out at the bottom
  • Coarse facial features
  • Hypermobile joints
  • Knock-knees
  • Large head (macrocephaly)
  • Short stature with a particularly short trunk
  • Widely spaced teeth

Signs and tests

The doctor will perform a physical examination. Examination and testing may reveal:

  • Abnormal curvature of the spine (kyphoscoliosis)
  • Cloudy cornea
  • Heart murmur (aortic regurgitation)
  • Inguinal hernia
  • Liver enlargement
  • Loss of nerve function below the neck
  • Short stature (especially short trunk)

Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.

Other tests may include:

  • Blood culture
  • Echocardiogram
  • Genetic testing
  • Hearing test
  • Slit-lamp eye exam
  • Skin fibroblast culture
  • X-rays of the long bones, ribs, and spine

Persons with Morquio syndrome should have MRI of the lower skull and upper neck to determine if the upper vertebrae are underdeveloped.


Review Date: 05/15/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. 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)