Miller Syndrome also called Post axial acrofacial dystosis (POADS) or Geenie-Wiendeman Acrofacial Dystosis is a rare genetic disorder which affects development of the face and limbs. It is estimated to affect 1 in 1 million newborn babies.

Features

  1. Underdeveloped check bones ( called as Malar Hypoplasia)
  2. Very Small lower jaw ( Micrognathia)Broad nasal ridge
    1. Causes restricted airway leading to life threatening breathing difficulties
  3. Broad nasal ridge
  4. Cleft lip and or Cleft palate
    1. Causing feeding problems in infants
    2. Misarticulations – unclear speech
    3. Resonance problems in speech
  5. Eye deformities
    1. Downward Slanting palpebral fissures, eyelids turn inwards and expose the inner surface ( This condition is called ectropion)
    2. Notch in the lower eye lid called coloboma
  6. Ear defects Presence of extra nipples
    1. Small cup shaped ears
    2. Defects in the middle ear attributing to conductive hearing loss which can range from mild – severe in degree
  7. Presence of extra nipples
  8. Average intelligence
  9. Limb defects Sometimes children might be born with defected ribs and spine
    1. Absent fifth finger and toe ( Hallmark feature)
    2. Webbed or fused fingers or toes ( syndactyly)
    3. Abnormally formed bones in forearms and forelegs
  10. Sometimes children might be born with defected ribs and spine
  11. Heart defects/kidney abnormalities, problems with genitals and gastrointestinal tract have also been reported though rarely

Speech and Language characteristics

  1. Delayed speech and language milestones due to hearing loss
  2. Misarticulations ( unclear speech)due to hearing loss and or cleft lip/palate
  3. Resonance problems in speech if the child has cleft palate

Cause

Mutations of the DODH gene cause the Miller syndrome. This gene is responsible for the production of enzymes that help in formation of DNA. The condition is inherited in an autosomal recessive pattern.

Intervention

After careful genetic testing and diagnosis, a child with this condition has to carefully referred to a team of professionals for further intervention. Pediatricians, Craniofacial surgeons, Neurologists, Speech Language Pathologists and Audiologists all have pivotal roles in managing children with Miller Syndrome.