Malan syndrome

Malan syndrome is a multiple congenital anomalies syndrome. It is a rare genetic disorder that occurs because of change in the NFIX gene (nuclear factor I/X (CCAAT-binding transcription factor)) located on the short arm (“p” arm) of chromosome 19 at position 13.2. Its prevalence is less than 1 per million.

What is Malan Syndrome?

Malan syndrome is a genetic, non-life threatening disorder caused by a mutation in chromosome 19.

Some Clinical features of Malan syndrome:

  • Tall stature
  • Stereotypical craniofacial features, such as tall forehead, long or triangular face, deeply set eyes down-slanting eyes, low set ears, a small mouth that is often held open, thin upper lip, dental crowding
  • Intellectual disability- ranging from mild to severe
  • Macrocephaly (large head circumference)
  • Hypotonia (low muscle tone)
  • Vision impairment- strabismus, optic nerve atrophy, optic nerve hypoplasia, limited fields of vision, cortical visual impairment (CVI), lack of depth perception
  • hearing impairment
  • Speech delay/inability to speak
  • Delayed gross and fine motor skills
  • Seizures or EEG abnormalities
  • Skeletal anomalies, such as advanced bone age, scoliosis, sternum malformations joint hypermobility (increase in the range of movement of which a joint is capable)
  • Autistic-like traits
  • Behavioral challenges- anxiety and mood swings
Treatment options for Malan Syndrome

While there is no cure for Malan Syndrome, there are treatments that can focus on specific symptoms.

Treatment options include:

  • Behavioral or occupational therapy
  • Speech therapy
  • Counseling
  • Medications to manage ADHD, irritability, or aggressiveness
  • Hearing aids for hearing loss
  • Obtaining a functional as well as acuity vision exam Glasses to correct vision problems