Resources » Syndrome Description

Facial Features

A number of unique facial features have been described in individuals with M-CM.  Although it is difficult to articulate the subtle similarities among affected individuals, it is clear when looking at photos that children with M-CM look more like each other than members of their own families.  The facial features of M-CM are not necessarily specific to the diagnosis, though a clinician with experience in the diagnosis may recognize a specific pattern of the facial features in M-CM more readily than another provider.  

While the individual facial features can be highly variable, frontal bossing appears to be the most frequent and consistent finding among affected individuals.  Other commonly reported characteristics include:

  • Facial asymmetry
  • Midline facial capillary malformations (see skin
  • Full lips
  • Everted lower lip
  • Full cheeks
  • Low-set ears
  • Thick gums
  • Large mouth
  • Low or depressed nasal bridge
  • Anteverted nostrils
  • Overfolded superior helices (the outer fold of the ear)
  • Thick, fleshy nose
  • Large, fleshy ears or earlobes
  • Long philtrum
  • Deep-set eyes
  • Hypertelorism (wide-spaced eyes)