Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

• Frequent middle ear infections
• Growth problems, short arms and legs
• Hearing problems
• Mental deficiency
• Unusual looking face

A physical exam confirms this disorder.

Findings may include:

• Advanced bone age
• Bone deformities in hands and feet
• Delays in growth
• Problems with the skin, genitals, teeth, and skeleton
• Short arms and legs with small hands and feet
• Short head, measured front to back (brachycephaly)
• Short height
• Small, upturned broad nose with flat bridge
• Unusual features of the face (short nose, open mouth, jaw that sticks out)
• Unusual head
• Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye

In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

• Abnormally short fingers and toes (brachydactyly)
• Early growth of bones in the hands and feet
• Short bones
• Shortening of the forearm bones near the wrist

Images

Anterior skeletal anatomy

Previous Section

Acrodysostosis Overview

Next Section

Acrodysostosis Treatment

Review Date: 11/01/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. 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)