Symptoms:

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

Signs and tests:

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