Mandibulofacial Dystosis

EXPLANATION: Mandibulofacial Dystosis is a syndrome that includes various malformations of specialized structures in the head and neck, including notched eyelid fissures, hypoplasia of the mandible, enlarged mouth with high or cleft palate and incorrectly positioned teeth, and atypicalhair growth. Mandibulofacial Dystosis is also known as "Teacher Collins Syndrome"

Symptoms

  • disproportionately large mouth (macrostomia)
  • small or absent cheekbones
  • large and pointed nose
  • droopy misshaped eyes with notched lower lids
  • absent lower eyelashes
  • absent floor of the eye sockets
  • overgrowth of scalp hair onto the cheeks
  • low-set, misshapen, small or absent ears
  • deformities of the ear canal
  • conductive hearing loss or conductive deafness, caused by malformations of inner ear structures.

Name of gene is MFMDN, The disorder is located on the 5th chromosome

Complications

Depending on how severe you have it, the normal complications are

  • feeding
  • breathing
  • speech
  • learning problems
  • dry eye syndrome
  • psychological problems

Inheritance: autosomal dominant trait

Organizations

FACES: The National Craniofacial Associationhttp://www.faces-cranio.org/Disord

/Treacher.htm

Cleft Palate Foundation: www.cleftline.org

Treatments

There's no definite treatment for this disorder, but you could get surgeries. Most likely  you'll have to go through wearing hearing aids, dental work, and speech therapy.

Graph of People in U.S with Disorder.

Picture of the chromosome carrying gene

Cites Used