Introduction:
Malan syndrome is a multiple congenital anomaly syndrome. It is a rare genetic disorder that occurs because of a 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