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Pierre-Robin syndrome
Other Resources UpToDate PubMed

Pierre-Robin syndrome

Other Resources UpToDate PubMed

Synopsis

A rare congenital abnormality consisting of prenatal mandibular hypoplasia, resulting in a sequential triad of micrognathia, glossoptosis, and cleft palate present at birth. The term Pierre-Robin sequence refers to this condition in isolation. The tongue may prolapse backward, causing life-threatening apnea or airway obstruction. Abnormalities may cause difficulty feeding and failure to thrive. Most commonly caused by an autosomal dominant mutation on gene SOX9, but often the result of a new mutation. In some cases, the mandibular will develop into a normal size. Management consists of mitigating airway obstruction.

Pierre-Robin sequence may occur with other abnormalities, including Stickler syndrome, velocardiofacial syndrome, or camptomelic dysplasia. These combined conditions are referred to as Pierre-Robin syndrome and may be significantly more life-threatening.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
4602007 – Robin sequence

Best Tests

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Last Updated:10/06/2022
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Pierre-Robin syndrome
A medical illustration showing key findings of Pierre-Robin syndrome : Failure to thrive, Micrognathia, Present at birth
Clinical image of Pierre-Robin syndrome - imageId=5364008. Click to open in gallery.  caption: 'Mandibular hypoplasia.'
Mandibular hypoplasia.
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