Pediatric Cerebrocostomandibular Syndrome

Pediatric Cerebrocostomandibular Syndrome

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Summary

Cerebrocostomandibular syndrome is an extremely rare condition in which a child will have an abnormally small jaw, malformations of the palate, improper tongue position and abnormal rib development.

Expanded Overview

Cerebrocostomandibular syndrome (CCMS) is a rare condition that affects the jaw, mouth and ribs. Researchers have documented fewer than 100 cases of CCMS.

Most children with CCMS have what’s known as Pierre Robin sequence. This is a set of abnormalities affecting the head and face, including a small lower jaw and a tongue that starts further back than normal that can block the airways. 

The difference between Pierre Robin sequence and CCMS is the presence of the rib abnormality. Children usually have 12 pairs of ribs. With CCMS, some ribs may be absent or not form completely. Also, abnormal gaps can occur in the back of the rib cage, which can change the appearance of the chest.

Causes

Most cases of CCMS are sporadic and are not a result of an inherited condition. However, some cases are linked to a genetic condition.

Symptoms

Symptoms of CCMS include:

  • Abnormal rib development
  • Abnormally small, underdeveloped jaw (micrognathia)
  • Cleft palate
  • Difficulty swallowing or feeding
  • Hearing and vision problems
  • Improperly formed palate and abnormal tongue position
  • Intellectual difficulties caused by lack of oxygen and respiratory distress
  • Malformation of the head and facial area
  • Microcephaly (smaller than the average head size)
  • Respiratory difficulties
  • Slow growth in the mother’s womb and after birth
  • Smaller than normal jaw

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