Aarskog Syndrome

By John Smith

Aarskog-Scott syndrome is an inherited illness that primarily affects males. It occurs for one in one million births. However, mild forms of the disorder do exist and may go unrecognized. The disorder is identified by stunted growth along with facial, genital and skeletal abnormalities.
Aarskog-Scott syndrome (AAS) is also called:
•Aarskog disease.
•Aarskog-Scott Syndrome.
•AAS.
•Faciodigitogenital Syndrome.
•Faciogenital Dysplasia.
•FGDY.
•Scott Aarskog syndrome.
If your loved one is suffering from this disorder, this guide contains invaluable information about the genetic causes of Aarskog along with a wealth of contact information and resources for further reading.

• Language: English
• Publisher: Andale LLC
• Release date: Nov 9, 2011
• ISBN: 9781466160057

John Smith

John was born in Norwich, Norfolk from a merchant family. He made his first dives among the wrecks on the east coast of the North Sea. For few years he worked on British oil rigs and then moved to Sharm El Sheikh in Egypt where he worked as an underwater guide. After he moved to Thailand and then to the Philippines. He now lives in Florida where he is a diver and writes novels. His articles on diving and marine biology have been published in many magazines

Book preview

Aarskog Syndrome

John Smith MA

M Awad MD (Ed.)

Smashwords Edition

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Copyright 2011 John Smith MA, M Awad MD

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Contents

Introduction

Diagnosis

Genetics

Genetic Testing

Aarskog Syndrome Organizations

Glossary of Medical Terms

Appendix A: Internet Resources / Further Reading

References

Introduction

Aarskog-Scott syndrome is an inherited illness that primarily affects males. It occurs for one in one million births. However, mild forms of the disorder do exist and may go unrecognized. The disorder is identified by stunted growth along with facial, genital and skeletal abnormalities.

The syndrome is named after Dagfinn Aarskog, a Norwegian pediatrician and geneticist who first described the syndrome in 1970, and also after Charles I. Scott, Jr., an American geneticist who also noted the syndrome in 1971.

Aarskog-Scott syndrome (AAS) is also called:

• Aarskog disease.

• Aarskog-Scott Syndrome.

• AAS.

• Faciodigitogenital Syndrome.

• Faciogenital Dysplasia.

• FGDY.

• Scott Aarskog syndrome.

Signs and symptoms

The Aarskog-Scott syndrome is a disorder characterized by a set of characteristic facial, genital and skeletal abnormalities including anteverted nostrils, hypertelorism, downslanting palpebral fissures, joint laxity, mental retardation, short stature and shawl scrotum. The physical phenotype of the syndrome varies with age and postpuberal males might only show minor manifestations of the prepuberal phenotype. Female carriers may exhibit mild symptoms.

Mild to moderate growth is evident by one to three years old, accompanied by a delayed growth spurt during adolescence. Mild mental retardation is sometimes present, along with attention deficit disorder and hyperactivity. Despite these factors, social skills are usually normal.

People afflicted with Aarskog syndrome usually have rounded faces with a widow’s peak and ocular hypertelorism (wide set eyes). The eyelids are generally droopy (ptosis) along with palpebral fissures (downward slanting eyelids). The nose has small nostrils that are tipped forward accompanied by a broad nasal bridge. The mid-portion of the face – the maxilla – usually does not develop properly. A broad philtrum – a groove – is present above the top lip and a crease is present below the bottom lip. Teeth eruption is also delayed and there may be underdevelopment of enamel, called enamel hypoplasia. In addition, the top parts of the ear are folded over and the ears may be low set.

In addition to