Facial-digital-genital syndrome

• Belly button that sticks out
• Bulge in the groin or scrotum (inguinal hernia)
• Delayed sexual maturation
• Delayed teeth
• Downward palpebral slant to eyes
• Hairline with a "widow's peak"
• Mildly sunken chest (pectus excavatum)
• Mild to moderate mental problems
• Mild to moderate short stature (which may not be obvious until the child is 1 - 3 years old)
• Poorly developed midportion of the face
• Rounded face
• "Shawl" scrotum, testicles that have not come down (undescended)
• Short fingers and toes with mild webbing
• Single crease in palm of hand
• Small, broad hands and feet with short fingers and curved-in fifth finger
• Small nose with nostrils tipped forward
• Top portion of the ear folded over slightly
• Wide groove above the upper lip, crease below the lower lip
• Wide-set eyes with droopy eyelids

• Genetic testing for mutations in the FGDY1 gene
• X-rays

Images

Simian crease

The face

Pectus excavatum

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Aarskog syndrome Overview

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Aarskog syndrome Treatment

Review Date: 05/17/2010
Reviewed By: A.D.A.M. Editorial Team: David Zieve, MD, MHA, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).

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