Acrodysostosis

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Anterior skeletal anatomy

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

• Mild to moderate growth deficiency
• Mental deficiency
• Frequent middle ear infections
• Hearing problems

A physical exam confirms the symptoms and signs of this disorder.

Findings may include:

• Progressive growth delays
• Short stature
• Unusual head and facial (craniofacial) features
• Wide-spaced eyes (hypertelorism)
• Short head, measured front to back (brachycephaly)
• Small, upturned broad nose with flat nasal bridge
• Protruding jaw
• Short arms and legs with deformities of the hands and feet
• Problems with the skin, genitals, teeth, and skeleton

In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have short bones, early growth of bones of the hands and feet, shortening of the forearm bones near the wrist, and abnormally short fingers and toes (brachydactyly).

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.