Aarskog syndrome
Alternate Names : Facial-digital-genital syndrome
Symptoms & Signs
- 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
Diagnosis & Tests
- Genetic testing for mutations in the FGDY1 gene
- X-rays
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