Sunday 14 November 2010

Cerebro-costo-mandibular Syndrome (CCM Syndrome or CCMS)

Cerebro-costo-mandibular Syndrome General Facts:
  • Also known as CCM syndrome, CCMS, or rib gap syndrome.
  • Cerebrocostomandibular syndrome is very rare condition.
  • The genetic mechanism is uncertain.
Clinical Features:
  • 11 pairs of ribs are usually present. The ribs characteristically have abnormal costovertebral articulations & posterior ossification gaps which resemble fractures.
  • The posterior ossification gaps will ossify later in life.
  • Neonatal respiratory distress is common due to flail chest & airway abnormalities.
Clinical Problems (Listed):
  • HEENT - cleft palate, conductive hearing loss, glossoptosis, high arched palate, micrognathia
  • Cardiac - congenital heart disease
  • Respiratory - respiratory distress, tracheal abnormalities
  • Skeletal - elbow hypoplasia, kyphosis, rib dysplasia, scoliosis, slow postnatal growth, vertebral fusion
  • Neurological - microcephaly
  • Psychiatric - mental retardation (+)
  • Genitourinary - ectopic kidney
  • Skin - excessive skin
Differential Diagnosis:
  • Multiple fractures
Prognosis:
  • Approximately 35% of babies with CCMS will die within one year.
  • Mortality rate of as high as 56% - especially from early respiratory problems.
  • Cerebral involvement is mostly related to hypoxia, so early recognition & intervention is very important.
  • Development progresses well once the initial respiratory problems are survived. [1]
  • Longterm life expectancy is thus related to early interventions & managing major developmental anomalies.
Management:
  • Includes intensive care for improving neonatal respiratory function
  • Prevention of feeding difficulties.
  • Operative interventions - musculoskeletal, palatal or hearing problems.
References:
  • [1] - Van den Ende JJ, Schrander-Stumpel C, Rupprecht E, Meinecke P, Maroteaux P, de Die-Smulders C, et al. The cerebro-costo-mandibular syndrome: seven patients and review of the literature. Clin Dysmorphol 1998;7:87-95.
  • Hosalkar HS, Shaw BA, Ceppi CL, Ng BC. The cerebro-costo-mandibular syndrome: 9-year follow-up of a case. J Postgrad Med 2000;46:268
  • Cerebrocostomandibular Syndrome (http://www.rare-disorders.com/cerebrocostomandibular.html)
Tags: Cerebro-costo-mandibular Syndrome - Microcephaly - Rib Dysplasia
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