Pierre Robin syndrome is a condition present at birth in which an infant has a very small lower jaw, a tongue that tends to fall back and downward, and a soft cleft palate.
The syndrome is also called Pierre Robin complex or sequence.
Alternative Names:
Robin sequence
Causes, incidence, and risk factors:
The specific causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly over the first few months of life before birth, but speeds up during the first year after birth. The falling back of the tongue may cause choking episodes and feeding and breathing difficulties, especially when the child sleeps.
Symptoms:
Cleft soft palate
High-arched palate
Jaw that is very small jaw with significant receding chin
Jaw placed unusually far back in the throat
Large-appearing tongue in relation to jaw
Natal teeth (teeth appearing when the baby is born)
Recurrent ear infections
Small opening in the roof of the mouth, which causes choking
Signs and tests:
A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetics specialist can rule out other problems linked to this syndrome.
Review Date: 10/24/2007
Reviewed By: James L. Demetroulakos, M.D., F.A.C.S., Department of Otolaryngology, North Shore Medical Center, Salem, MA. Clinical Instructor in Otology and Laryngology, Harvard Medical School. Review provided by VeriMed Healthcare Network.
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Medical Genetics, General Pediatrics
